04 Faculty of Medicine > Department of Gynaecology, Paediatrics and Endocrinology (DFKE) > Clinic of Human Genetics

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Number of items at this level: 210.

Aeberli, Daniel

Grassi, Mara; Laubscher, Bernard; Pandey, Amit V; Tschumi, Sibylle; Graber, Franziska; Schaller, André; Janner, Marco; Aeberli, Daniel; Hewer, Ekkehard; Nuoffer, Jean-Marc; Gautschi, Matthias (2023). Expanding the p.(Arg85Trp) Variant-Specific Phenotype of HNF4A: Features of Glycogen Storage Disease, Liver Cirrhosis, Impaired Mitochondrial Function, and Glomerular Changes. Molecular syndromology, 14(4), pp. 347-361. Karger 10.1159/000529306

Agbariah, Nada

Agbariah, Nada; Sanz, Javier; Rovó, Alicia (2022). “A Dangerous Black Box:” Idiopathic Hemophagocytic Lymphohistiocytosis in Adult Patients—A Case Report and Review of the Literature. Case reports in hematology, 2022, pp. 1-8. Hindawi 10.1155/2022/5867129

Aliu, Nijas

Fasler-Kan, Elizaveta; Milošević, Milan; Ruggiero, Sabrina; Aliu, Nijas; Cholewa, Dietmar; Häcker, Frank-Martin; Dekany, Gabriela; Bartenstein, Andreas; Berger, Steffen M. (2024). Cytokine Signaling in Pediatric Kidney Tumor Cell Lines WT-CLS1, WT-3ab and G-401. International journal of molecular sciences, 25(4) MDPI 10.3390/ijms25042281

Ferrario, Alessandra; Aliu, Nijas; Rieubland, Claudine; Vuilleumier, Sébastian; Grabe, Hilary M.; Escher, Pascal (2023). Expanding Genotype/Phenotype Correlation in 2p11.2-p12 Microdeletion Syndrome. Genes, 14(12) MDPI, Molecular Diversity Preservation International 10.3390/genes14122222

Schlichtner, Stephanie; Yasinska, Inna M; Lall, Gurprit S; Berger, Steffen M; Ruggiero, Sabrina; Cholewa, Dietmar; Aliu, Nijas; Gibbs, Bernhard F; Fasler-Kan, Elizaveta; Sumbayev, Vadim V (2023). T lymphocytes induce human cancer cells derived from solid malignant tumors to secrete galectin-9 which facilitates immunosuppression in cooperation with other immune checkpoint proteins. Journal for immunotherapy of cancer, 11(1) BioMed Central 10.1136/jitc-2022-005714

Schlichtner, Stephanie; Yasinska, Inna M; Ruggiero, Sabrina; Berger, Steffen M; Aliu, Nijas; Prunk, Mateja; Kos, Janko; Meyer, N Helge; Gibbs, Bernhard F; Fasler-Kan, Elizaveta; Sumbayev, Vadim V (2022). Expression of the Immune Checkpoint Protein VISTA Is Differentially Regulated by the TGF-β1 - Smad3 Signaling Pathway in Rapidly Proliferating Human Cells and T Lymphocytes. Frontiers in medicine, 9, p. 790995. Frontiers 10.3389/fmed.2022.790995

Santi, Maristella; Grafmüller, Stefanie; Zeino, Mazen; Cools, Martine; Van De Vijver, Koen; Trippel, Mafalda; Aliu, Nijas; Flück, Christa E (2021). Approach to the Virilizing Girl at Puberty. The Journal of clinical endocrinology and metabolism, 106(5), pp. 1530-1539. Oxford University Press 10.1210/clinem/dgaa948

Schlichtner, Stephanie; Meyer, N. Helge; Yasinska, Inna M.; Aliu, Nijas; Berger, Steffen M.; Gibbs, Bernhard F.; Fasler-Kan, Elizaveta; Sumbayev, Vadim V. (2021). Functional role of galectin-9 in directing human innate immune reactions to Gram-negative bacteria and T cell apoptosis. International immunopharmacology, 100, p. 108155. Elsevier 10.1016/j.intimp.2021.108155

Altay, Firat

Altay, Melek Firat; Kumar, Senthil T; Burtscher, Johannes; Jagannath, Somanath; Strand, Catherine; Miki, Yasuo; Parkkinen, Laura; Holton, Janice L; Lashuel, Hilal A (2024). Author Correction: Development and validation of an expanded antibody toolset that captures alpha-synuclein pathological diversity in Lewy body diseases. NPJ Parkinson's disease, 10(1) Nature Publishing Group 10.1038/s41531-024-00634-0

Altay, Melek Firat; Kumar, Senthil T; Burtscher, Johannes; Jagannath, Somanath; Strand, Catherine; Miki, Yasuo; Parkkinen, Laura; Holton, Janice L; Lashuel, Hilal A (2023). Development and validation of an expanded antibody toolset that captures alpha-synuclein pathological diversity in Lewy body diseases. NPJ Parkinson's disease, 9(1), p. 161. Nature Publishing Group 10.1038/s41531-023-00604-y

Amstutz, Deborah

Sousa, M; Maamari, B; Bremova, T; Nuoffer, J M; Wiest, R; Amstutz, D; Krack, P; Bartholdi, D; Tinkhauser, G (2024). Late adult-onset Niemann Pick type C (NPC): An "atypical" typical presentation at the age of 62. Parkinsonism & related disorders, 120, p. 105460. Elsevier 10.1016/j.parkreldis.2023.105460

Anderegg, Manuel

Anderegg, Manuel A; Olinger, Eric G; Bargagli, Matteo; Geraghty, Rob; Taylor, Lea; Nater, Alexander; Bruggmann, Rémy; Sayer, John A; Vogt, Bruno; Schaller, André; Fuster, Daniel G (2024). Prevalence and characteristics of genetic disease in adult kidney stone formers. (In Press). Nephrology, dialysis, transplantation Oxford University Press 10.1093/ndt/gfae074

Anderegg, Manuel A.; Olinger, Eric G.; Bargagli, Matteo; Geraghty, Rob; Pohlmeier, Lea; Nater, Alexander; Bruggmann, Rémy; Sayer, John A.; Vogt, Bruno; Schaller, André; Fuster, Daniel G. (27 July 2023). Prevalence and characteristics of monogenic disease in adult kidney stone formers (medRxiv). Cold Spring Harbor Laboratory 10.1101/2023.07.23.23292924

Asatryan, Babken

Rieder, Marina; Kreifels, Paul; Stuplich, Judith; Ziupa, David; Servatius, Helge; Nicolai, Luisa; Castiglione, Alessandro; Zweier, Christiane; Asatryan, Babken; Odening, Katja E (2022). Genotype-Specific ECG-Based Risk Stratification Approaches in Patients With Long-QT Syndrome. Frontiers in cardiovascular medicine, 9, p. 916036. Frontiers 10.3389/fcvm.2022.916036

Bargagli, Matteo

Anderegg, Manuel A; Olinger, Eric G; Bargagli, Matteo; Geraghty, Rob; Taylor, Lea; Nater, Alexander; Bruggmann, Rémy; Sayer, John A; Vogt, Bruno; Schaller, André; Fuster, Daniel G (2024). Prevalence and characteristics of genetic disease in adult kidney stone formers. (In Press). Nephrology, dialysis, transplantation Oxford University Press 10.1093/ndt/gfae074

Anderegg, Manuel A.; Olinger, Eric G.; Bargagli, Matteo; Geraghty, Rob; Pohlmeier, Lea; Nater, Alexander; Bruggmann, Rémy; Sayer, John A.; Vogt, Bruno; Schaller, André; Fuster, Daniel G. (27 July 2023). Prevalence and characteristics of monogenic disease in adult kidney stone formers (medRxiv). Cold Spring Harbor Laboratory 10.1101/2023.07.23.23292924

Bartenstein, Andreas

Fasler-Kan, Elizaveta; Milošević, Milan; Ruggiero, Sabrina; Aliu, Nijas; Cholewa, Dietmar; Häcker, Frank-Martin; Dekany, Gabriela; Bartenstein, Andreas; Berger, Steffen M. (2024). Cytokine Signaling in Pediatric Kidney Tumor Cell Lines WT-CLS1, WT-3ab and G-401. International journal of molecular sciences, 25(4) MDPI 10.3390/ijms25042281

Bartholdi, Deborah

Sousa, M; Maamari, B; Bremova, T; Nuoffer, J M; Wiest, R; Amstutz, D; Krack, P; Bartholdi, D; Tinkhauser, G (2024). Late adult-onset Niemann Pick type C (NPC): An "atypical" typical presentation at the age of 62. Parkinsonism & related disorders, 120, p. 105460. Elsevier 10.1016/j.parkreldis.2023.105460

Liang, Lina; Liu, Huihui; Bartholdi, Deborah; van Haeringen, Arie; Fernandez-Jaén, Alberto; Peeters, Els E A; Xiong, Hongbo; Bai, Xuemei; Xu, Chengqi; Ke, Tie; Wang, Qing K (2022). Identification and Functional Analysis of Two New De Novo KCNMA1 Variants Associated with Liang-Wang syndrome. Acta physiologica, 235(1), e13800. Wiley 10.1111/apha.13800

Broser, Philip; von Mengershausen, Ursula; Heldt, Katrin; Bartholdi, Deborah; Braun, Dominique; Wolf, Christine; Lee-Kirsch, Min Ae (2022). Precision treatment of Singleton Merten syndrome with ruxolitinib: a case report. Pediatric rheumatology, 20(1), p. 24. BioMed Central 10.1186/s12969-022-00686-7

Baumgartner, Iris

Themis-Areti A, Andreoti; Tuleja, Aleksandra; Döring, Yvonne; Maiolo, Massimo; Schaller, André; Vassella, Erik; Zweier, Christiane; Boon, Laurence M; Vikkula, Miikka; Rössler, Jochen; Bernhard, Sarah M.; Baumgartner, Iris (2023). Parkes Weber Syndrome: Contribution of the Genotype to the Diagnosis. Journal of vascular anomalies, 4(4), e076. Wolters Kluwer Health 10.1097/JOVA.0000000000000076

Berger, Daria Olena

Barben, Jürg; Pedersen, Eva S. L.; Berger, Daria; Rueegg, Corina S.; Sanz, Javier; Sluka, Susanna; Baumgartner, Matthias; Kuehni, Claudia E. (2023). Dix ans de dépistage néonatal de la mucoviscidose en Suisse. Swiss medical forum, 23(5), pp. 871-874. EMH Schweizerischer Ärzteverlag AG 10.4414/smf.2023.09321

Berger, Lieselotte Erika

Buhler, Virginie M. M.; Berger, Lieselotte; Schaller, André; Zinkernagel, Martin S.; Wolf, Sebastian; Escher, Pascal (2021). Absence of Genotype/Phenotype Correlations Requires Molecular Diagnostic to Ascertain Stargardt and Stargardt-Like Swiss Patients. Genes, 12(6) MDPI, Molecular Diversity Preservation International 10.3390/genes12060812

Berger, Steffen Michael

Fasler-Kan, Elizaveta; Milošević, Milan; Ruggiero, Sabrina; Aliu, Nijas; Cholewa, Dietmar; Häcker, Frank-Martin; Dekany, Gabriela; Bartenstein, Andreas; Berger, Steffen M. (2024). Cytokine Signaling in Pediatric Kidney Tumor Cell Lines WT-CLS1, WT-3ab and G-401. International journal of molecular sciences, 25(4) MDPI 10.3390/ijms25042281

Schlichtner, Stephanie; Yasinska, Inna M; Lall, Gurprit S; Berger, Steffen M; Ruggiero, Sabrina; Cholewa, Dietmar; Aliu, Nijas; Gibbs, Bernhard F; Fasler-Kan, Elizaveta; Sumbayev, Vadim V (2023). T lymphocytes induce human cancer cells derived from solid malignant tumors to secrete galectin-9 which facilitates immunosuppression in cooperation with other immune checkpoint proteins. Journal for immunotherapy of cancer, 11(1) BioMed Central 10.1136/jitc-2022-005714

Schlichtner, Stephanie; Yasinska, Inna M; Ruggiero, Sabrina; Berger, Steffen M; Aliu, Nijas; Prunk, Mateja; Kos, Janko; Meyer, N Helge; Gibbs, Bernhard F; Fasler-Kan, Elizaveta; Sumbayev, Vadim V (2022). Expression of the Immune Checkpoint Protein VISTA Is Differentially Regulated by the TGF-β1 - Smad3 Signaling Pathway in Rapidly Proliferating Human Cells and T Lymphocytes. Frontiers in medicine, 9, p. 790995. Frontiers 10.3389/fmed.2022.790995

Schlichtner, Stephanie; Meyer, N. Helge; Yasinska, Inna M.; Aliu, Nijas; Berger, Steffen M.; Gibbs, Bernhard F.; Fasler-Kan, Elizaveta; Sumbayev, Vadim V. (2021). Functional role of galectin-9 in directing human innate immune reactions to Gram-negative bacteria and T cell apoptosis. International immunopharmacology, 100, p. 108155. Elsevier 10.1016/j.intimp.2021.108155

Bernhard, Sarah Maike

Themis-Areti A, Andreoti; Tuleja, Aleksandra; Döring, Yvonne; Maiolo, Massimo; Schaller, André; Vassella, Erik; Zweier, Christiane; Boon, Laurence M; Vikkula, Miikka; Rössler, Jochen; Bernhard, Sarah M.; Baumgartner, Iris (2023). Parkes Weber Syndrome: Contribution of the Genotype to the Diagnosis. Journal of vascular anomalies, 4(4), e076. Wolters Kluwer Health 10.1097/JOVA.0000000000000076

Bovermann, Xenia Ursula

Oestreich, Marc-Alexander; Keller, Fabian; Bovermann, Xenia; Braun, Dominique; Schiller, Rike; Raio, Luigi; Zweier, Christiane; Casaulta, Carmen; Usemann, Jakob; Kidszun, André; Popa-Todirenchi, Mircea-Horia (2024). A Mild Case of Jeune Syndrome Associated with a Recurrent Missense Variant in DYNC2H1: Confirmation of a Genotype-Phenotype Correlation. Klinische Pädiatrie, 236(2), pp. 145-147. Thieme 10.1055/a-2235-6201

Braun, Dominique

Ha, Thoa; Morgan, Angela; Bartos, Meghan N; Beatty, Katelyn; Cogné, Benjamin; Braun, Dominique; Gerber, Céline B; Gaspar, Harald; Kopps, Anna M; Rieubland, Claudine; Hurst, Anna C E; Amor, David J; Nizon, Mathilde; Pasquier, Laurent; Pfundt, Rolph; Reis, André; Siu, Victoria Mok; Tessarech, Marine; Thompson, Michelle L; Vincent, Marie; ... (2024). De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay. (In Press). American journal of medical genetics. Part A(e63559), e63559. Wiley-Liss 10.1002/ajmg.a.63559

Oestreich, Marc-Alexander; Keller, Fabian; Bovermann, Xenia; Braun, Dominique; Schiller, Rike; Raio, Luigi; Zweier, Christiane; Casaulta, Carmen; Usemann, Jakob; Kidszun, André; Popa-Todirenchi, Mircea-Horia (2024). A Mild Case of Jeune Syndrome Associated with a Recurrent Missense Variant in DYNC2H1: Confirmation of a Genotype-Phenotype Correlation. Klinische Pädiatrie, 236(2), pp. 145-147. Thieme 10.1055/a-2235-6201

Szakszon, Katalin; Lourenco, Charles Marques; Callewaert, Bert Louis; Geneviève, David; Rouxel, Flavien; Morin, Denis; Denommé-Pichon, Anne-Sophie; Vitobello, Antonio; Patterson, Wesley; Louie, Raymond; Pinto E Vairo, Filippo; Klee, Eric; Kaiwar, Charu; Gavrilova, Ralitza H; Agre, Katherine E; Jacquemont, Sebastien; Khadijé, Jizi; Giltay, Jacques; van Gassen, Koen; Merő, Gabriella; ... (2024). Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with ZNF148 mutations. Journal of medical genetics, 61(2), pp. 132-141. BMJ Publishing Group 10.1136/jmg-2022-109030

Bruggmann, Rémy

Anderegg, Manuel A; Olinger, Eric G; Bargagli, Matteo; Geraghty, Rob; Taylor, Lea; Nater, Alexander; Bruggmann, Rémy; Sayer, John A; Vogt, Bruno; Schaller, André; Fuster, Daniel G (2024). Prevalence and characteristics of genetic disease in adult kidney stone formers. (In Press). Nephrology, dialysis, transplantation Oxford University Press 10.1093/ndt/gfae074

Anderegg, Manuel A.; Olinger, Eric G.; Bargagli, Matteo; Geraghty, Rob; Pohlmeier, Lea; Nater, Alexander; Bruggmann, Rémy; Sayer, John A.; Vogt, Bruno; Schaller, André; Fuster, Daniel G. (27 July 2023). Prevalence and characteristics of monogenic disease in adult kidney stone formers (medRxiv). Cold Spring Harbor Laboratory 10.1101/2023.07.23.23292924

Brémovà-Ertl, Tatiana

Sousa, M; Maamari, B; Bremova, T; Nuoffer, J M; Wiest, R; Amstutz, D; Krack, P; Bartholdi, D; Tinkhauser, G (2024). Late adult-onset Niemann Pick type C (NPC): An "atypical" typical presentation at the age of 62. Parkinsonism & related disorders, 120, p. 105460. Elsevier 10.1016/j.parkreldis.2023.105460

Bühler, Virginie Manuela Marie

Buhler, Virginie M. M.; Berger, Lieselotte; Schaller, André; Zinkernagel, Martin S.; Wolf, Sebastian; Escher, Pascal (2021). Absence of Genotype/Phenotype Correlations Requires Molecular Diagnostic to Ascertain Stargardt and Stargardt-Like Swiss Patients. Genes, 12(6) MDPI, Molecular Diversity Preservation International 10.3390/genes12060812

Casaulta, Carmen

Oestreich, Marc-Alexander; Keller, Fabian; Bovermann, Xenia; Braun, Dominique; Schiller, Rike; Raio, Luigi; Zweier, Christiane; Casaulta, Carmen; Usemann, Jakob; Kidszun, André; Popa-Todirenchi, Mircea-Horia (2024). A Mild Case of Jeune Syndrome Associated with a Recurrent Missense Variant in DYNC2H1: Confirmation of a Genotype-Phenotype Correlation. Klinische Pädiatrie, 236(2), pp. 145-147. Thieme 10.1055/a-2235-6201

Castiglione, Alessandro

Rieder, Marina; Kreifels, Paul; Stuplich, Judith; Ziupa, David; Servatius, Helge; Nicolai, Luisa; Castiglione, Alessandro; Zweier, Christiane; Asatryan, Babken; Odening, Katja E (2022). Genotype-Specific ECG-Based Risk Stratification Approaches in Patients With Long-QT Syndrome. Frontiers in cardiovascular medicine, 9, p. 916036. Frontiers 10.3389/fcvm.2022.916036

Cholewa, Dietmar

Fasler-Kan, Elizaveta; Milošević, Milan; Ruggiero, Sabrina; Aliu, Nijas; Cholewa, Dietmar; Häcker, Frank-Martin; Dekany, Gabriela; Bartenstein, Andreas; Berger, Steffen M. (2024). Cytokine Signaling in Pediatric Kidney Tumor Cell Lines WT-CLS1, WT-3ab and G-401. International journal of molecular sciences, 25(4) MDPI 10.3390/ijms25042281

Schlichtner, Stephanie; Yasinska, Inna M; Lall, Gurprit S; Berger, Steffen M; Ruggiero, Sabrina; Cholewa, Dietmar; Aliu, Nijas; Gibbs, Bernhard F; Fasler-Kan, Elizaveta; Sumbayev, Vadim V (2023). T lymphocytes induce human cancer cells derived from solid malignant tumors to secrete galectin-9 which facilitates immunosuppression in cooperation with other immune checkpoint proteins. Journal for immunotherapy of cancer, 11(1) BioMed Central 10.1136/jitc-2022-005714

Christen, Matthias

Christen, Matthias; Gregor, Anne; Gutierrez-Quintana, Rodrigo; Bongers, Jos; Rupp, Angie; Penderis, Jacques; Shelton, G Diane; Jagannathan, Vidhya; Zweier, Christiane; Leeb, Tosso (2024). NDUFS7 variant in dogs with Leigh syndrome and its functional validation in a Drosophila melanogaster model. Scientific Reports, 14(2975) Nature Publishing Group 10.1038/s41598-024-53314-7

Degen, Martin

Degen, Martin; Girousi, Eleftheria; Feldmann, Julia; Parisi, Ludovica; La Scala, Giorgio C.; Schnyder, Isabelle; Schaller, André; Katsaros, Christos (2020). A Novel Van der Woude Syndrome-Causing IRF6 Variant Is Subject to Incomplete Non-sense-Mediated mRNA Decay Affecting the Phenotype of Keratinocytes. Frontiers in cell and developmental biology, 8, p. 583115. Frontiers 10.3389/fcell.2020.583115

Dekany, Gabriela Marta

Fasler-Kan, Elizaveta; Milošević, Milan; Ruggiero, Sabrina; Aliu, Nijas; Cholewa, Dietmar; Häcker, Frank-Martin; Dekany, Gabriela; Bartenstein, Andreas; Berger, Steffen M. (2024). Cytokine Signaling in Pediatric Kidney Tumor Cell Lines WT-CLS1, WT-3ab and G-401. International journal of molecular sciences, 25(4) MDPI 10.3390/ijms25042281

Döring, Yvonne

Themis-Areti A, Andreoti; Tuleja, Aleksandra; Döring, Yvonne; Maiolo, Massimo; Schaller, André; Vassella, Erik; Zweier, Christiane; Boon, Laurence M; Vikkula, Miikka; Rössler, Jochen; Bernhard, Sarah M.; Baumgartner, Iris (2023). Parkes Weber Syndrome: Contribution of the Genotype to the Diagnosis. Journal of vascular anomalies, 4(4), e076. Wolters Kluwer Health 10.1097/JOVA.0000000000000076

Escher, Pascal

Ferrario, Alessandra; Aliu, Nijas; Rieubland, Claudine; Vuilleumier, Sébastian; Grabe, Hilary M.; Escher, Pascal (2023). Expanding Genotype/Phenotype Correlation in 2p11.2-p12 Microdeletion Syndrome. Genes, 14(12) MDPI, Molecular Diversity Preservation International 10.3390/genes14122222

Hundsberger, Felix; Escher, Pascal; Schaller, André; Valmaggia, Christophe; Todorova, Margarita G (2023). The Value of a Combined Ophthalmogenetic Approach in Differentiating a Presumed Case of Isolated Retinitis Pigmentosa from Refsum Disease. Klinische Monatsblätter für Augenheilkunde, 240(4), pp. 549-552. Thieme 10.1055/a-2055-1051

Sanlialp, Ayse; Escher, Pascal; Schaller, André; Todorova, Margarita (2023). Clinical Heterogeneity in Two Siblings Harbouring a Heterozygous PRPH2 Pathogenic Variant. Klinische Monatsblätter für Augenheilkunde, 240(4), pp. 536-543. Thieme 10.1055/a-2034-6250

Buhler, Virginie M. M.; Berger, Lieselotte; Schaller, André; Zinkernagel, Martin S.; Wolf, Sebastian; Escher, Pascal (2021). Absence of Genotype/Phenotype Correlations Requires Molecular Diagnostic to Ascertain Stargardt and Stargardt-Like Swiss Patients. Genes, 12(6) MDPI, Molecular Diversity Preservation International 10.3390/genes12060812

Vaclavik, Veronika; Naderi, Francine; Schaller, André; Escher, Pascal (2020). Longitudinal case study and phenotypic multimodal characterization of McArdle disease-linked retinopathy: insight into pathomechanisms. Ophthalmic genetics, 41(1), pp. 73-78. Taylor & Francis 10.1080/13816810.2020.1727536

Fasel, Pascale Denise

Szakszon, Katalin; Lourenco, Charles Marques; Callewaert, Bert Louis; Geneviève, David; Rouxel, Flavien; Morin, Denis; Denommé-Pichon, Anne-Sophie; Vitobello, Antonio; Patterson, Wesley; Louie, Raymond; Pinto E Vairo, Filippo; Klee, Eric; Kaiwar, Charu; Gavrilova, Ralitza H; Agre, Katherine E; Jacquemont, Sebastien; Khadijé, Jizi; Giltay, Jacques; van Gassen, Koen; Merő, Gabriella; ... (2024). Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with ZNF148 mutations. Journal of medical genetics, 61(2), pp. 132-141. BMJ Publishing Group 10.1136/jmg-2022-109030

Fasler-Kan, Elizaveta

Fasler-Kan, Elizaveta; Milošević, Milan; Ruggiero, Sabrina; Aliu, Nijas; Cholewa, Dietmar; Häcker, Frank-Martin; Dekany, Gabriela; Bartenstein, Andreas; Berger, Steffen M. (2024). Cytokine Signaling in Pediatric Kidney Tumor Cell Lines WT-CLS1, WT-3ab and G-401. International journal of molecular sciences, 25(4) MDPI 10.3390/ijms25042281

Schlichtner, Stephanie; Yasinska, Inna M; Lall, Gurprit S; Berger, Steffen M; Ruggiero, Sabrina; Cholewa, Dietmar; Aliu, Nijas; Gibbs, Bernhard F; Fasler-Kan, Elizaveta; Sumbayev, Vadim V (2023). T lymphocytes induce human cancer cells derived from solid malignant tumors to secrete galectin-9 which facilitates immunosuppression in cooperation with other immune checkpoint proteins. Journal for immunotherapy of cancer, 11(1) BioMed Central 10.1136/jitc-2022-005714

Schlichtner, Stephanie; Yasinska, Inna M; Ruggiero, Sabrina; Berger, Steffen M; Aliu, Nijas; Prunk, Mateja; Kos, Janko; Meyer, N Helge; Gibbs, Bernhard F; Fasler-Kan, Elizaveta; Sumbayev, Vadim V (2022). Expression of the Immune Checkpoint Protein VISTA Is Differentially Regulated by the TGF-β1 - Smad3 Signaling Pathway in Rapidly Proliferating Human Cells and T Lymphocytes. Frontiers in medicine, 9, p. 790995. Frontiers 10.3389/fmed.2022.790995

Schlichtner, Stephanie; Meyer, N. Helge; Yasinska, Inna M.; Aliu, Nijas; Berger, Steffen M.; Gibbs, Bernhard F.; Fasler-Kan, Elizaveta; Sumbayev, Vadim V. (2021). Functional role of galectin-9 in directing human innate immune reactions to Gram-negative bacteria and T cell apoptosis. International immunopharmacology, 100, p. 108155. Elsevier 10.1016/j.intimp.2021.108155

Feldmann, Julia

Degen, Martin; Girousi, Eleftheria; Feldmann, Julia; Parisi, Ludovica; La Scala, Giorgio C.; Schnyder, Isabelle; Schaller, André; Katsaros, Christos (2020). A Novel Van der Woude Syndrome-Causing IRF6 Variant Is Subject to Incomplete Non-sense-Mediated mRNA Decay Affecting the Phenotype of Keratinocytes. Frontiers in cell and developmental biology, 8, p. 583115. Frontiers 10.3389/fcell.2020.583115

Felser, Andrea Debora

Laemmle, Alexander; Steck, Andrea Lisa; Schaller, André; Kurth, Sandra; Perret Hoigné, Eveline; Felser, Andrea Deborah; Slavova, Nedelina; Salvisberg, Claudia; Atencio, Mariana; Mochel, Fanny; Nuoffer, Jean-Marc; Gautschi, Matthias (2021). Triheptanoin - Novel therapeutic approach for the ultra-rare disease mitochondrial malate dehydrogenase deficiency. Molecular genetics and metabolism reports, 29, p. 100814. Elsevier 10.1016/j.ymgmr.2021.100814

Flück Pandey, Christa Emma

Santi, Maristella; Grafmüller, Stefanie; Zeino, Mazen; Cools, Martine; Van De Vijver, Koen; Trippel, Mafalda; Aliu, Nijas; Flück, Christa E (2021). Approach to the Virilizing Girl at Puberty. The Journal of clinical endocrinology and metabolism, 106(5), pp. 1530-1539. Oxford University Press 10.1210/clinem/dgaa948

Fuster, Daniel Guido

Anderegg, Manuel A; Olinger, Eric G; Bargagli, Matteo; Geraghty, Rob; Taylor, Lea; Nater, Alexander; Bruggmann, Rémy; Sayer, John A; Vogt, Bruno; Schaller, André; Fuster, Daniel G (2024). Prevalence and characteristics of genetic disease in adult kidney stone formers. (In Press). Nephrology, dialysis, transplantation Oxford University Press 10.1093/ndt/gfae074

Anderegg, Manuel A.; Olinger, Eric G.; Bargagli, Matteo; Geraghty, Rob; Pohlmeier, Lea; Nater, Alexander; Bruggmann, Rémy; Sayer, John A.; Vogt, Bruno; Schaller, André; Fuster, Daniel G. (27 July 2023). Prevalence and characteristics of monogenic disease in adult kidney stone formers (medRxiv). Cold Spring Harbor Laboratory 10.1101/2023.07.23.23292924

Fux, Michaela

Yogarajah, J.; Gouveia, C.; Iype, J.; Häfliger, Stefanie; Schaller, A.; Nuoffer, J. M.; Fux, M.; Gautschi, M. (2021). Efficacy and safety of secukinumab for the treatment of severe ABCA12 deficiency‐related ichthyosis in a child. Skin health and disease, 1(2), e25. Wiley 10.1002/ski2.25

Gallati, Sabina

Saffari, Afshin; Lau, Tracy; Tajsharghi, Homa; Karimiani, Ehsan Ghayoor; Kariminejad, Ariana; Efthymiou, Stephanie; Zifarelli, Giovanni; Sultan, Tipu; Toosi, Mehran Beiraghi; Sedighzadeh, Sahar; Siu, Victoria Mok; Ortigoza-Escobar, Juan Darío; AlShamsi, Aisha M; Ibrahim, Shahnaz; Al-Sannaa, Nouriya Abbas; Al-Hertani, Walla; Sandra, Whalen; Tarnopolsky, Mark; Alavi, Shahryar; Li, Chumei; ... (2023). The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders. Brain : a journal of neurology, 146(8), pp. 3273-3288. Oxford University Press 10.1093/brain/awad039

Strehlow, Vincent; Rieubland, Claudine; Gallati, Sabrina; Kim, Sukhan; Myers, Scott J; Peterson, Vincent; Ramsey, Amy J; Teuscher, Daniel D; Traynelis, Stephen F; Lemke, Johannes R (2022). Compound-heterozygous GRIN2A null variants associated with severe developmental and epileptic encephalopathy. Epilepsia, 63(10), e132-e137. Wiley-Blackwell 10.1111/epi.17394

Gaspar, Harald

Ha, Thoa; Morgan, Angela; Bartos, Meghan N; Beatty, Katelyn; Cogné, Benjamin; Braun, Dominique; Gerber, Céline B; Gaspar, Harald; Kopps, Anna M; Rieubland, Claudine; Hurst, Anna C E; Amor, David J; Nizon, Mathilde; Pasquier, Laurent; Pfundt, Rolph; Reis, André; Siu, Victoria Mok; Tessarech, Marine; Thompson, Michelle L; Vincent, Marie; ... (2024). De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay. (In Press). American journal of medical genetics. Part A(e63559), e63559. Wiley-Liss 10.1002/ajmg.a.63559

Lenz, Dominic; Schlieben, Lea D; Shimura, Masaru; Bianzano, Alyssa; Smirnov, Dmitrii; Kopajtich, Robert; Berutti, Riccardo; Adam, Rüdiger; Aldrian, Denise; Baric, Ivo; Baumann, Ulrich; Bozbulut, Neslihan Eksi; Brugger, Melanie; Brunet, Theresa; Bufler, Philip; Burnytė, Birutė; Calvo, Pier Luigi; Crushell, Ellen; Dalgıç, Buket; Das, Anibh M; ... (2023). Genetic landscape of pediatric acute liver failure of indeterminate origin. (In Press). Hepatology Wiley 10.1097/HEP.0000000000000684

Meyer-Landolt, Lukas; Gaspar, Harald; Sanz, Javier; Trippel, Mafalda; Sabina, Gallati; Rössler, Jochen (2022). Cutaneous squamous cell carcinoma in an autosomal-recessive Adams-Oliver syndrome patient with a novel frameshift pathogenic variant in the EOGT gene. American journal of medical genetics. Part A, 188(11), pp. 3318-3323. Wiley-Liss 10.1002/ajmg.a.62961

Gautschi, Matthias

Grassi, Mara; Laubscher, Bernard; Pandey, Amit V; Tschumi, Sibylle; Graber, Franziska; Schaller, André; Janner, Marco; Aeberli, Daniel; Hewer, Ekkehard; Nuoffer, Jean-Marc; Gautschi, Matthias (2023). Expanding the p.(Arg85Trp) Variant-Specific Phenotype of HNF4A: Features of Glycogen Storage Disease, Liver Cirrhosis, Impaired Mitochondrial Function, and Glomerular Changes. Molecular syndromology, 14(4), pp. 347-361. Karger 10.1159/000529306

Laemmle, Alexander; Steck, Andrea Lisa; Schaller, André; Kurth, Sandra; Perret Hoigné, Eveline; Felser, Andrea Deborah; Slavova, Nedelina; Salvisberg, Claudia; Atencio, Mariana; Mochel, Fanny; Nuoffer, Jean-Marc; Gautschi, Matthias (2021). Triheptanoin - Novel therapeutic approach for the ultra-rare disease mitochondrial malate dehydrogenase deficiency. Molecular genetics and metabolism reports, 29, p. 100814. Elsevier 10.1016/j.ymgmr.2021.100814

Yogarajah, J.; Gouveia, C.; Iype, J.; Häfliger, Stefanie; Schaller, A.; Nuoffer, J. M.; Fux, M.; Gautschi, M. (2021). Efficacy and safety of secukinumab for the treatment of severe ABCA12 deficiency‐related ichthyosis in a child. Skin health and disease, 1(2), e25. Wiley 10.1002/ski2.25

Gerber, Céline Berit

Ha, Thoa; Morgan, Angela; Bartos, Meghan N; Beatty, Katelyn; Cogné, Benjamin; Braun, Dominique; Gerber, Céline B; Gaspar, Harald; Kopps, Anna M; Rieubland, Claudine; Hurst, Anna C E; Amor, David J; Nizon, Mathilde; Pasquier, Laurent; Pfundt, Rolph; Reis, André; Siu, Victoria Mok; Tessarech, Marine; Thompson, Michelle L; Vincent, Marie; ... (2024). De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay. (In Press). American journal of medical genetics. Part A(e63559), e63559. Wiley-Liss 10.1002/ajmg.a.63559

Girousi, Eleftheria

Degen, Martin; Girousi, Eleftheria; Feldmann, Julia; Parisi, Ludovica; La Scala, Giorgio C.; Schnyder, Isabelle; Schaller, André; Katsaros, Christos (2020). A Novel Van der Woude Syndrome-Causing IRF6 Variant Is Subject to Incomplete Non-sense-Mediated mRNA Decay Affecting the Phenotype of Keratinocytes. Frontiers in cell and developmental biology, 8, p. 583115. Frontiers 10.3389/fcell.2020.583115

Gouveia, Carolina

Yogarajah, J.; Gouveia, C.; Iype, J.; Häfliger, Stefanie; Schaller, A.; Nuoffer, J. M.; Fux, M.; Gautschi, M. (2021). Efficacy and safety of secukinumab for the treatment of severe ABCA12 deficiency‐related ichthyosis in a child. Skin health and disease, 1(2), e25. Wiley 10.1002/ski2.25

Grabe, Hilary Michelle

Ferrario, Alessandra; Aliu, Nijas; Rieubland, Claudine; Vuilleumier, Sébastian; Grabe, Hilary M.; Escher, Pascal (2023). Expanding Genotype/Phenotype Correlation in 2p11.2-p12 Microdeletion Syndrome. Genes, 14(12) MDPI, Molecular Diversity Preservation International 10.3390/genes14122222

Graber, Franziska

Grassi, Mara; Laubscher, Bernard; Pandey, Amit V; Tschumi, Sibylle; Graber, Franziska; Schaller, André; Janner, Marco; Aeberli, Daniel; Hewer, Ekkehard; Nuoffer, Jean-Marc; Gautschi, Matthias (2023). Expanding the p.(Arg85Trp) Variant-Specific Phenotype of HNF4A: Features of Glycogen Storage Disease, Liver Cirrhosis, Impaired Mitochondrial Function, and Glomerular Changes. Molecular syndromology, 14(4), pp. 347-361. Karger 10.1159/000529306

Grafmüller, Stefanie

Santi, Maristella; Grafmüller, Stefanie; Zeino, Mazen; Cools, Martine; Van De Vijver, Koen; Trippel, Mafalda; Aliu, Nijas; Flück, Christa E (2021). Approach to the Virilizing Girl at Puberty. The Journal of clinical endocrinology and metabolism, 106(5), pp. 1530-1539. Oxford University Press 10.1210/clinem/dgaa948

Gregor, Anne

Christen, Matthias; Gregor, Anne; Gutierrez-Quintana, Rodrigo; Bongers, Jos; Rupp, Angie; Penderis, Jacques; Shelton, G Diane; Jagannathan, Vidhya; Zweier, Christiane; Leeb, Tosso (2024). NDUFS7 variant in dogs with Leigh syndrome and its functional validation in a Drosophila melanogaster model. Scientific Reports, 14(2975) Nature Publishing Group 10.1038/s41598-024-53314-7

Beaman, M Makenzie; Guidugli, Lucia; Hammer, Monia; Barrows, Chelsea; Gregor, Anne; Lee, Sangmoon; Deak, Kristen L; McDonald, Marie T; Jensen, Courtney; Zaki, Maha S; Masri, Amira T; Hobbs, Charlotte A; Gleeson, Joseph G; Cohen, Jennifer L (2023). Novel association of Dandy-Walker malformation with CAPN15 variants expands the phenotype of oculogastrointestinal neurodevelopmental syndrome. American journal of medical genetics. Part A, 191(11), pp. 2757-2767. Wiley 10.1002/ajmg.a.63363

Schmid, Cosima M; Gregor, Anne; Costain, Gregory; Morel, Chantal F; Massingham, Lauren; Schwab, Jennifer; Quélin, Chloé; Faoucher, Marie; Kaplan, Julie; Procopio, Rebecca; Saunders, Carol J; Cohen, Ana S A; Lemire, Gabrielle; Sacharow, Stephanie; O'Donnell-Luria, Anne; Segal, Ranit Jaron; Shamshoni, Jessica Kianmahd; Schweitzer, Daniela; Ebrahimi-Fakhari, Darius; Monaghan, Kristin; ... (2023). LHX2 haploinsufficiency causes a variable neurodevelopmental disorder. Genetics in medicine, 25(7), p. 100839. Springer Nature 10.1016/j.gim.2023.100839

Hertig, Damian

Meyer, Christoph; Hertig, Damian; Arnold, Janine; Urzì, Christian; Kurth, Sandra; Mayr, Johannes A; Schaller, André; Vermathen, Peter; Nuoffer, Jean-Marc (2024). Complex I, V, and MDH2 deficient human skin fibroblasts reveal distinct metabolic signatures by 1 H HR-MAS NMR. Journal of inherited metabolic disease, 47(2), pp. 270-279. Springer 10.1002/jimd.12696

Hewer, Ekkehard Walter

Grassi, Mara; Laubscher, Bernard; Pandey, Amit V; Tschumi, Sibylle; Graber, Franziska; Schaller, André; Janner, Marco; Aeberli, Daniel; Hewer, Ekkehard; Nuoffer, Jean-Marc; Gautschi, Matthias (2023). Expanding the p.(Arg85Trp) Variant-Specific Phenotype of HNF4A: Features of Glycogen Storage Disease, Liver Cirrhosis, Impaired Mitochondrial Function, and Glomerular Changes. Molecular syndromology, 14(4), pp. 347-361. Karger 10.1159/000529306

Häfliger, Stefanie

Yogarajah, J.; Gouveia, C.; Iype, J.; Häfliger, Stefanie; Schaller, A.; Nuoffer, J. M.; Fux, M.; Gautschi, M. (2021). Efficacy and safety of secukinumab for the treatment of severe ABCA12 deficiency‐related ichthyosis in a child. Skin health and disease, 1(2), e25. Wiley 10.1002/ski2.25

Iype, Joseena Mariam

Yogarajah, J.; Gouveia, C.; Iype, J.; Häfliger, Stefanie; Schaller, A.; Nuoffer, J. M.; Fux, M.; Gautschi, M. (2021). Efficacy and safety of secukinumab for the treatment of severe ABCA12 deficiency‐related ichthyosis in a child. Skin health and disease, 1(2), e25. Wiley 10.1002/ski2.25

Jagannathan, Vidya

Christen, Matthias; Gregor, Anne; Gutierrez-Quintana, Rodrigo; Bongers, Jos; Rupp, Angie; Penderis, Jacques; Shelton, G Diane; Jagannathan, Vidhya; Zweier, Christiane; Leeb, Tosso (2024). NDUFS7 variant in dogs with Leigh syndrome and its functional validation in a Drosophila melanogaster model. Scientific Reports, 14(2975) Nature Publishing Group 10.1038/s41598-024-53314-7

Janner, Marco

Grassi, Mara; Laubscher, Bernard; Pandey, Amit V; Tschumi, Sibylle; Graber, Franziska; Schaller, André; Janner, Marco; Aeberli, Daniel; Hewer, Ekkehard; Nuoffer, Jean-Marc; Gautschi, Matthias (2023). Expanding the p.(Arg85Trp) Variant-Specific Phenotype of HNF4A: Features of Glycogen Storage Disease, Liver Cirrhosis, Impaired Mitochondrial Function, and Glomerular Changes. Molecular syndromology, 14(4), pp. 347-361. Karger 10.1159/000529306

Katsaros, Christos

Degen, Martin; Girousi, Eleftheria; Feldmann, Julia; Parisi, Ludovica; La Scala, Giorgio C.; Schnyder, Isabelle; Schaller, André; Katsaros, Christos (2020). A Novel Van der Woude Syndrome-Causing IRF6 Variant Is Subject to Incomplete Non-sense-Mediated mRNA Decay Affecting the Phenotype of Keratinocytes. Frontiers in cell and developmental biology, 8, p. 583115. Frontiers 10.3389/fcell.2020.583115

Keller, Fabian

Oestreich, Marc-Alexander; Keller, Fabian; Bovermann, Xenia; Braun, Dominique; Schiller, Rike; Raio, Luigi; Zweier, Christiane; Casaulta, Carmen; Usemann, Jakob; Kidszun, André; Popa-Todirenchi, Mircea-Horia (2024). A Mild Case of Jeune Syndrome Associated with a Recurrent Missense Variant in DYNC2H1: Confirmation of a Genotype-Phenotype Correlation. Klinische Pädiatrie, 236(2), pp. 145-147. Thieme 10.1055/a-2235-6201

Kidszun, André

Oestreich, Marc-Alexander; Keller, Fabian; Bovermann, Xenia; Braun, Dominique; Schiller, Rike; Raio, Luigi; Zweier, Christiane; Casaulta, Carmen; Usemann, Jakob; Kidszun, André; Popa-Todirenchi, Mircea-Horia (2024). A Mild Case of Jeune Syndrome Associated with a Recurrent Missense Variant in DYNC2H1: Confirmation of a Genotype-Phenotype Correlation. Klinische Pädiatrie, 236(2), pp. 145-147. Thieme 10.1055/a-2235-6201

Kopps, Anna

Ha, Thoa; Morgan, Angela; Bartos, Meghan N; Beatty, Katelyn; Cogné, Benjamin; Braun, Dominique; Gerber, Céline B; Gaspar, Harald; Kopps, Anna M; Rieubland, Claudine; Hurst, Anna C E; Amor, David J; Nizon, Mathilde; Pasquier, Laurent; Pfundt, Rolph; Reis, André; Siu, Victoria Mok; Tessarech, Marine; Thompson, Michelle L; Vincent, Marie; ... (2024). De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay. (In Press). American journal of medical genetics. Part A(e63559), e63559. Wiley-Liss 10.1002/ajmg.a.63559

Krack, Paul

Sousa, M; Maamari, B; Bremova, T; Nuoffer, J M; Wiest, R; Amstutz, D; Krack, P; Bartholdi, D; Tinkhauser, G (2024). Late adult-onset Niemann Pick type C (NPC): An "atypical" typical presentation at the age of 62. Parkinsonism & related disorders, 120, p. 105460. Elsevier 10.1016/j.parkreldis.2023.105460

Kurth, Sandra

Meyer, Christoph; Hertig, Damian; Arnold, Janine; Urzì, Christian; Kurth, Sandra; Mayr, Johannes A; Schaller, André; Vermathen, Peter; Nuoffer, Jean-Marc (2024). Complex I, V, and MDH2 deficient human skin fibroblasts reveal distinct metabolic signatures by 1 H HR-MAS NMR. Journal of inherited metabolic disease, 47(2), pp. 270-279. Springer 10.1002/jimd.12696

Laemmle, Alexander; Steck, Andrea Lisa; Schaller, André; Kurth, Sandra; Perret Hoigné, Eveline; Felser, Andrea Deborah; Slavova, Nedelina; Salvisberg, Claudia; Atencio, Mariana; Mochel, Fanny; Nuoffer, Jean-Marc; Gautschi, Matthias (2021). Triheptanoin - Novel therapeutic approach for the ultra-rare disease mitochondrial malate dehydrogenase deficiency. Molecular genetics and metabolism reports, 29, p. 100814. Elsevier 10.1016/j.ymgmr.2021.100814

Lämmle, Alexander; Schaller, André; Rusca, Nicola; Kurth, Sandra; Salvisberg, Claudia; Fuhrer Kradolfer, Katharina; Wyder, Corinne (2021). Erleichterung und Sorge, Hoffnung und Angst – der Weg zur Diagnosestellung einer SLC16A2-Mutation. Paediatrica, 32(1) Schweizerische Gesellschaft für Pädiatrie SGP 10.35190/d2021.1.2

Kühni, Claudia

Barben, Jürg; Pedersen, Eva S. L.; Berger, Daria; Rueegg, Corina S.; Sanz, Javier; Sluka, Susanna; Baumgartner, Matthias; Kuehni, Claudia E. (2023). Dix ans de dépistage néonatal de la mucoviscidose en Suisse. Swiss medical forum, 23(5), pp. 871-874. EMH Schweizerischer Ärzteverlag AG 10.4414/smf.2023.09321

Langhammer, Franziska

Langhammer, Franziska; Maroofian, Reza; Badar, Rueda; Gregor, Anne; Rochman, Michelle; Ratliff, Jeffrey B; Koopmans, Marije; Herget, Theresia; Hempel, Maja; Kortüm, Fanny; Heron, Delphine; Mignot, Cyril; Keren, Boris; Brooks, Susan; Botti, Christina; Ben-Zeev, Bruria; Argilli, Emanuela; Sherr, Elliot H; Gowda, Vykuntaraju K; Srinivasan, Varunvenkat M; ... (2023). Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders. Genetics in medicine, 25(8), p. 100885. Springer Nature 10.1016/j.gim.2023.100885

Leeb, Tosso

Christen, Matthias; Gregor, Anne; Gutierrez-Quintana, Rodrigo; Bongers, Jos; Rupp, Angie; Penderis, Jacques; Shelton, G Diane; Jagannathan, Vidhya; Zweier, Christiane; Leeb, Tosso (2024). NDUFS7 variant in dogs with Leigh syndrome and its functional validation in a Drosophila melanogaster model. Scientific Reports, 14(2975) Nature Publishing Group 10.1038/s41598-024-53314-7

Di Lazzaro Filho, Ricardo; Yamamoto, Guilherme Lopes; Silva, Tiago J; Rocha, Leticia A; Linnenkamp, Bianca D W; Castro, Matheus Augusto Araújo; Bartholdi, Deborah; Schaller, André; Leeb, Tosso; Kelmann, Samantha; Utagawa, Claudia Y; Steiner, Carlos E; Steinmetz, Leandra; Honjo, Rachel Sayuri; Kim, Chong Ae; Wang, Lisa; Abourjaili-Bilodeau, Raphaël; Campeau, Philippe; Warman, Matthew; Passos-Bueno, Maria Rita; ... (2023). Biallelic variants in DNA2 cause poikiloderma with congenital cataracts and severe growth failure reminiscent of Rothmund-Thomson syndrome. Journal of medical genetics, 60(11), pp. 1127-1132. BMJ Publishing Group 10.1136/jmg-2022-109119

Lämmle, Alexander

Ramosaj, Adhuresa; Singhal, Palak; Schaller, André; Laemmle, Alexander (2023). Induced pluripotent stem cell technology as diagnostic tool in patients with suspected ornithine transcarbamylase deficiency lacking genetic confirmation. Molecular genetics and metabolism reports, 37(101007), p. 101007. Elsevier 10.1016/j.ymgmr.2023.101007

Laemmle, Alexander; Steck, Andrea Lisa; Schaller, André; Kurth, Sandra; Perret Hoigné, Eveline; Felser, Andrea Deborah; Slavova, Nedelina; Salvisberg, Claudia; Atencio, Mariana; Mochel, Fanny; Nuoffer, Jean-Marc; Gautschi, Matthias (2021). Triheptanoin - Novel therapeutic approach for the ultra-rare disease mitochondrial malate dehydrogenase deficiency. Molecular genetics and metabolism reports, 29, p. 100814. Elsevier 10.1016/j.ymgmr.2021.100814

Lämmle, Alexander; Schaller, André; Rusca, Nicola; Kurth, Sandra; Salvisberg, Claudia; Fuhrer Kradolfer, Katharina; Wyder, Corinne (2021). Erleichterung und Sorge, Hoffnung und Angst – der Weg zur Diagnosestellung einer SLC16A2-Mutation. Paediatrica, 32(1) Schweizerische Gesellschaft für Pädiatrie SGP 10.35190/d2021.1.2

Maamari, Basel

Sousa, M; Maamari, B; Bremova, T; Nuoffer, J M; Wiest, R; Amstutz, D; Krack, P; Bartholdi, D; Tinkhauser, G (2024). Late adult-onset Niemann Pick type C (NPC): An "atypical" typical presentation at the age of 62. Parkinsonism & related disorders, 120, p. 105460. Elsevier 10.1016/j.parkreldis.2023.105460

Maiolo, Massimo Vincenzo

Themis-Areti A, Andreoti; Tuleja, Aleksandra; Döring, Yvonne; Maiolo, Massimo; Schaller, André; Vassella, Erik; Zweier, Christiane; Boon, Laurence M; Vikkula, Miikka; Rössler, Jochen; Bernhard, Sarah M.; Baumgartner, Iris (2023). Parkes Weber Syndrome: Contribution of the Genotype to the Diagnosis. Journal of vascular anomalies, 4(4), e076. Wolters Kluwer Health 10.1097/JOVA.0000000000000076

Meyer, Christoph Manuel

Meyer, Christoph; Hertig, Damian; Arnold, Janine; Urzì, Christian; Kurth, Sandra; Mayr, Johannes A; Schaller, André; Vermathen, Peter; Nuoffer, Jean-Marc (2024). Complex I, V, and MDH2 deficient human skin fibroblasts reveal distinct metabolic signatures by 1 H HR-MAS NMR. Journal of inherited metabolic disease, 47(2), pp. 270-279. Springer 10.1002/jimd.12696

Meyer-Landolt, Lukas

Meyer-Landolt, Lukas; Gaspar, Harald; Sanz, Javier; Trippel, Mafalda; Sabina, Gallati; Rössler, Jochen (2022). Cutaneous squamous cell carcinoma in an autosomal-recessive Adams-Oliver syndrome patient with a novel frameshift pathogenic variant in the EOGT gene. American journal of medical genetics. Part A, 188(11), pp. 3318-3323. Wiley-Liss 10.1002/ajmg.a.62961

Milosevic, Milan

Fasler-Kan, Elizaveta; Milošević, Milan; Ruggiero, Sabrina; Aliu, Nijas; Cholewa, Dietmar; Häcker, Frank-Martin; Dekany, Gabriela; Bartenstein, Andreas; Berger, Steffen M. (2024). Cytokine Signaling in Pediatric Kidney Tumor Cell Lines WT-CLS1, WT-3ab and G-401. International journal of molecular sciences, 25(4) MDPI 10.3390/ijms25042281

Nater, Alexander

Anderegg, Manuel A; Olinger, Eric G; Bargagli, Matteo; Geraghty, Rob; Taylor, Lea; Nater, Alexander; Bruggmann, Rémy; Sayer, John A; Vogt, Bruno; Schaller, André; Fuster, Daniel G (2024). Prevalence and characteristics of genetic disease in adult kidney stone formers. (In Press). Nephrology, dialysis, transplantation Oxford University Press 10.1093/ndt/gfae074

Anderegg, Manuel A.; Olinger, Eric G.; Bargagli, Matteo; Geraghty, Rob; Pohlmeier, Lea; Nater, Alexander; Bruggmann, Rémy; Sayer, John A.; Vogt, Bruno; Schaller, André; Fuster, Daniel G. (27 July 2023). Prevalence and characteristics of monogenic disease in adult kidney stone formers (medRxiv). Cold Spring Harbor Laboratory 10.1101/2023.07.23.23292924

Nogueira da Silva e Sousa, Mario Jorge

Sousa, M; Maamari, B; Bremova, T; Nuoffer, J M; Wiest, R; Amstutz, D; Krack, P; Bartholdi, D; Tinkhauser, G (2024). Late adult-onset Niemann Pick type C (NPC): An "atypical" typical presentation at the age of 62. Parkinsonism & related disorders, 120, p. 105460. Elsevier 10.1016/j.parkreldis.2023.105460

Nuoffer, Jean-Marc

Sousa, M; Maamari, B; Bremova, T; Nuoffer, J M; Wiest, R; Amstutz, D; Krack, P; Bartholdi, D; Tinkhauser, G (2024). Late adult-onset Niemann Pick type C (NPC): An "atypical" typical presentation at the age of 62. Parkinsonism & related disorders, 120, p. 105460. Elsevier 10.1016/j.parkreldis.2023.105460

Meyer, Christoph; Hertig, Damian; Arnold, Janine; Urzì, Christian; Kurth, Sandra; Mayr, Johannes A; Schaller, André; Vermathen, Peter; Nuoffer, Jean-Marc (2024). Complex I, V, and MDH2 deficient human skin fibroblasts reveal distinct metabolic signatures by 1 H HR-MAS NMR. Journal of inherited metabolic disease, 47(2), pp. 270-279. Springer 10.1002/jimd.12696

Grassi, Mara; Laubscher, Bernard; Pandey, Amit V; Tschumi, Sibylle; Graber, Franziska; Schaller, André; Janner, Marco; Aeberli, Daniel; Hewer, Ekkehard; Nuoffer, Jean-Marc; Gautschi, Matthias (2023). Expanding the p.(Arg85Trp) Variant-Specific Phenotype of HNF4A: Features of Glycogen Storage Disease, Liver Cirrhosis, Impaired Mitochondrial Function, and Glomerular Changes. Molecular syndromology, 14(4), pp. 347-361. Karger 10.1159/000529306

Gschwind, Markus; Garcia Segarra, Nuria; Schaller, André; Bolognini, Ramona; Nuoffer, Jean-Marc; Hourez, Raphael; Deprez, Manuel; Lhermitte, Benoit; Maeder, Philippe; Tran, Christel; Kuntzer, Thierry (2022). Early-onset leukoencephalomyelopathy due to a biallelic NDUFV1 variant in a mid-forties patient. Annals of Clinical and Translational Neurology, 9(6), pp. 888-892. Wiley 10.1002/acn3.51556

Laemmle, Alexander; Steck, Andrea Lisa; Schaller, André; Kurth, Sandra; Perret Hoigné, Eveline; Felser, Andrea Deborah; Slavova, Nedelina; Salvisberg, Claudia; Atencio, Mariana; Mochel, Fanny; Nuoffer, Jean-Marc; Gautschi, Matthias (2021). Triheptanoin - Novel therapeutic approach for the ultra-rare disease mitochondrial malate dehydrogenase deficiency. Molecular genetics and metabolism reports, 29, p. 100814. Elsevier 10.1016/j.ymgmr.2021.100814

Yogarajah, J.; Gouveia, C.; Iype, J.; Häfliger, Stefanie; Schaller, A.; Nuoffer, J. M.; Fux, M.; Gautschi, M. (2021). Efficacy and safety of secukinumab for the treatment of severe ABCA12 deficiency‐related ichthyosis in a child. Skin health and disease, 1(2), e25. Wiley 10.1002/ski2.25

Odening, Katja Elisabeth

Rieder, Marina; Zweier, Christiane; Odening, Katja E (2023). Novel Insights Into the Prevalence of TNNI3K-Mediated Dilated Cardiomyopathy and Putative Disease Mechanisms. Circulation. Genomic and precision medicine, 16(4), pp. 337-339. American Heart Association 10.1161/CIRCGEN.123.004207

Rieder, Marina; Kreifels, Paul; Stuplich, Judith; Ziupa, David; Servatius, Helge; Nicolai, Luisa; Castiglione, Alessandro; Zweier, Christiane; Asatryan, Babken; Odening, Katja E (2022). Genotype-Specific ECG-Based Risk Stratification Approaches in Patients With Long-QT Syndrome. Frontiers in cardiovascular medicine, 9, p. 916036. Frontiers 10.3389/fcvm.2022.916036

Oestreich, Marc-Alexander Heinz

Oestreich, Marc-Alexander; Keller, Fabian; Bovermann, Xenia; Braun, Dominique; Schiller, Rike; Raio, Luigi; Zweier, Christiane; Casaulta, Carmen; Usemann, Jakob; Kidszun, André; Popa-Todirenchi, Mircea-Horia (2024). A Mild Case of Jeune Syndrome Associated with a Recurrent Missense Variant in DYNC2H1: Confirmation of a Genotype-Phenotype Correlation. Klinische Pädiatrie, 236(2), pp. 145-147. Thieme 10.1055/a-2235-6201

Pandey, Amit Vikram

Grassi, Mara; Laubscher, Bernard; Pandey, Amit V; Tschumi, Sibylle; Graber, Franziska; Schaller, André; Janner, Marco; Aeberli, Daniel; Hewer, Ekkehard; Nuoffer, Jean-Marc; Gautschi, Matthias (2023). Expanding the p.(Arg85Trp) Variant-Specific Phenotype of HNF4A: Features of Glycogen Storage Disease, Liver Cirrhosis, Impaired Mitochondrial Function, and Glomerular Changes. Molecular syndromology, 14(4), pp. 347-361. Karger 10.1159/000529306

Parisi, Ludovica

Degen, Martin; Girousi, Eleftheria; Feldmann, Julia; Parisi, Ludovica; La Scala, Giorgio C.; Schnyder, Isabelle; Schaller, André; Katsaros, Christos (2020). A Novel Van der Woude Syndrome-Causing IRF6 Variant Is Subject to Incomplete Non-sense-Mediated mRNA Decay Affecting the Phenotype of Keratinocytes. Frontiers in cell and developmental biology, 8, p. 583115. Frontiers 10.3389/fcell.2020.583115

Pedersen, Eva Sophie Lunde

Barben, Jürg; Pedersen, Eva S. L.; Berger, Daria; Rueegg, Corina S.; Sanz, Javier; Sluka, Susanna; Baumgartner, Matthias; Kuehni, Claudia E. (2023). Dix ans de dépistage néonatal de la mucoviscidose en Suisse. Swiss medical forum, 23(5), pp. 871-874. EMH Schweizerischer Ärzteverlag AG 10.4414/smf.2023.09321

Perret, Eveline

Laemmle, Alexander; Steck, Andrea Lisa; Schaller, André; Kurth, Sandra; Perret Hoigné, Eveline; Felser, Andrea Deborah; Slavova, Nedelina; Salvisberg, Claudia; Atencio, Mariana; Mochel, Fanny; Nuoffer, Jean-Marc; Gautschi, Matthias (2021). Triheptanoin - Novel therapeutic approach for the ultra-rare disease mitochondrial malate dehydrogenase deficiency. Molecular genetics and metabolism reports, 29, p. 100814. Elsevier 10.1016/j.ymgmr.2021.100814

Popa-Todirenchi, Mircea-Horia

Oestreich, Marc-Alexander; Keller, Fabian; Bovermann, Xenia; Braun, Dominique; Schiller, Rike; Raio, Luigi; Zweier, Christiane; Casaulta, Carmen; Usemann, Jakob; Kidszun, André; Popa-Todirenchi, Mircea-Horia (2024). A Mild Case of Jeune Syndrome Associated with a Recurrent Missense Variant in DYNC2H1: Confirmation of a Genotype-Phenotype Correlation. Klinische Pädiatrie, 236(2), pp. 145-147. Thieme 10.1055/a-2235-6201

Raio, Luigi

Oestreich, Marc-Alexander; Keller, Fabian; Bovermann, Xenia; Braun, Dominique; Schiller, Rike; Raio, Luigi; Zweier, Christiane; Casaulta, Carmen; Usemann, Jakob; Kidszun, André; Popa-Todirenchi, Mircea-Horia (2024). A Mild Case of Jeune Syndrome Associated with a Recurrent Missense Variant in DYNC2H1: Confirmation of a Genotype-Phenotype Correlation. Klinische Pädiatrie, 236(2), pp. 145-147. Thieme 10.1055/a-2235-6201

Rieder, Marina Hedwig

Rieder, Marina; Kreifels, Paul; Stuplich, Judith; Ziupa, David; Servatius, Helge; Nicolai, Luisa; Castiglione, Alessandro; Zweier, Christiane; Asatryan, Babken; Odening, Katja E (2022). Genotype-Specific ECG-Based Risk Stratification Approaches in Patients With Long-QT Syndrome. Frontiers in cardiovascular medicine, 9, p. 916036. Frontiers 10.3389/fcvm.2022.916036

Rieubland, Claudine

Ha, Thoa; Morgan, Angela; Bartos, Meghan N; Beatty, Katelyn; Cogné, Benjamin; Braun, Dominique; Gerber, Céline B; Gaspar, Harald; Kopps, Anna M; Rieubland, Claudine; Hurst, Anna C E; Amor, David J; Nizon, Mathilde; Pasquier, Laurent; Pfundt, Rolph; Reis, André; Siu, Victoria Mok; Tessarech, Marine; Thompson, Michelle L; Vincent, Marie; ... (2024). De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay. (In Press). American journal of medical genetics. Part A(e63559), e63559. Wiley-Liss 10.1002/ajmg.a.63559

Ferrario, Alessandra; Aliu, Nijas; Rieubland, Claudine; Vuilleumier, Sébastian; Grabe, Hilary M.; Escher, Pascal (2023). Expanding Genotype/Phenotype Correlation in 2p11.2-p12 Microdeletion Syndrome. Genes, 14(12) MDPI, Molecular Diversity Preservation International 10.3390/genes14122222

Kesim, Yesim; Ceroni, Fabiola; Damián, Alejandra; Blanco-Kelly, Fiona; Ayuso, Carmen; Williamson, Kathy; Paquis-Flucklinger, Véronique; Bax, Dorine A; Plaisancié, Julie; Rieubland, Claudine; Chamlal, Mostafa; Cortón, Marta; Chassaing, Nicolas; Calvas, Patrick; Ragge, Nicola K (2023). Clinical and genetic analysis further delineates the phenotypic spectrum of ALDH1A3-related anophthalmia and microphthalmia. European journal of human genetics, 31(10), pp. 1175-1180. Springer Nature 10.1038/s41431-023-01342-8

Kesim, Yesim; Ceroni, Fabiola; Damián, Alejandra; Blanco-Kelly, Fiona; Ayuso, Carmen; Williamson, Kathy; Paquis-Flucklinger, Véronique; Bax, Dorine A; Plaisancié, Julie; Rieubland, Claudine; Chamlal, Mostafa; Cortón, Marta; Chassaing, Nicolas; Calvas, Patrick; Ragge, Nicola K (2023). Correction: Clinical and genetic analysis further delineates the phenotypic spectrum of ALDH1A3-related anophthalmia and microphthalmia. European journal of human genetics, 31(10), pp. 1196-1198. Springer Nature 10.1038/s41431-023-01363-3

Saffari, Afshin; Lau, Tracy; Tajsharghi, Homa; Karimiani, Ehsan Ghayoor; Kariminejad, Ariana; Efthymiou, Stephanie; Zifarelli, Giovanni; Sultan, Tipu; Toosi, Mehran Beiraghi; Sedighzadeh, Sahar; Siu, Victoria Mok; Ortigoza-Escobar, Juan Darío; AlShamsi, Aisha M; Ibrahim, Shahnaz; Al-Sannaa, Nouriya Abbas; Al-Hertani, Walla; Sandra, Whalen; Tarnopolsky, Mark; Alavi, Shahryar; Li, Chumei; ... (2023). The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders. Brain : a journal of neurology, 146(8), pp. 3273-3288. Oxford University Press 10.1093/brain/awad039

Gracia-Diaz, Carolina; Zhou, Yijing; Yang, Qian; Maroofian, Reza; Espana-Bonilla, Paula; Lee, Chul-Hwan; Zhang, Shuo; Padilla, Natàlia; Fueyo, Raquel; Waxman, Elisa A; Lei, Sunyimeng; Otrimski, Garrett; Li, Dong; Sheppard, Sarah E; Mark, Paul; Harr, Margaret H; Hakonarson, Hakon; Rodan, Lance; Jackson, Adam; Vasudevan, Pradeep; ... (2023). Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders. Nature Communications, 14(1), p. 4109. Springer Nature 10.1038/s41467-023-39645-5

Banka, Siddharth; Bennington, Abigail; Baker, Martin J; Rijckmans, Ellen; Clemente, Giuliana D; Ansor, Nurhuda Mohamad; Sito, Hilary; Prasad, Pritha; Anyane-Yeboa, Kwame; Badalato, Lauren; Dimitrov, Boyan; Fitzpatrick, David; Hurst, Anna C E; Jansen, Anna C; Kelly, Melissa A; Krantz, Ian; Rieubland, Claudine; Ross, Meredith; Rudy, Natasha L; Sanz, Javier; ... (2022). Activating RAC1 variants in the switch II region cause a developmental syndrome and alter neuronal morphology. Brain : a journal of neurology, 145(12), pp. 4232-4245. Oxford University Press 10.1093/brain/awac049

Strehlow, Vincent; Rieubland, Claudine; Gallati, Sabrina; Kim, Sukhan; Myers, Scott J; Peterson, Vincent; Ramsey, Amy J; Teuscher, Daniel D; Traynelis, Stephen F; Lemke, Johannes R (2022). Compound-heterozygous GRIN2A null variants associated with severe developmental and epileptic encephalopathy. Epilepsia, 63(10), e132-e137. Wiley-Blackwell 10.1111/epi.17394

Faundes, Víctor; Goh, Stephanie; Akilapa, Rhoda; Bezuidenhout, Heidre; Bjornsson, Hans T; Bradley, Lisa; Brady, Angela F; Brischoux-Boucher, Elise; Brunner, Han; Bulk, Saskia; Canham, Natalie; Cody, Declan; Dentici, Maria Lisa; Digilio, Maria Cristina; Elmslie, Frances; Fry, Andrew E; Gill, Harinder; Hurst, Jane; Johnson, Diana; Julia, Sophie; ... (2021). Clinical delineation, sex differences, and genotype-phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2. Genetics in medicine, 23(7), pp. 1202-1210. Springer Nature 10.1038/s41436-021-01119-8

Rovó, Alicia

Agbariah, Nada; Sanz, Javier; Rovó, Alicia (2022). “A Dangerous Black Box:” Idiopathic Hemophagocytic Lymphohistiocytosis in Adult Patients—A Case Report and Review of the Literature. Case reports in hematology, 2022, pp. 1-8. Hindawi 10.1155/2022/5867129

Ruggiero, Sabrina

Fasler-Kan, Elizaveta; Milošević, Milan; Ruggiero, Sabrina; Aliu, Nijas; Cholewa, Dietmar; Häcker, Frank-Martin; Dekany, Gabriela; Bartenstein, Andreas; Berger, Steffen M. (2024). Cytokine Signaling in Pediatric Kidney Tumor Cell Lines WT-CLS1, WT-3ab and G-401. International journal of molecular sciences, 25(4) MDPI 10.3390/ijms25042281

Schlichtner, Stephanie; Yasinska, Inna M; Lall, Gurprit S; Berger, Steffen M; Ruggiero, Sabrina; Cholewa, Dietmar; Aliu, Nijas; Gibbs, Bernhard F; Fasler-Kan, Elizaveta; Sumbayev, Vadim V (2023). T lymphocytes induce human cancer cells derived from solid malignant tumors to secrete galectin-9 which facilitates immunosuppression in cooperation with other immune checkpoint proteins. Journal for immunotherapy of cancer, 11(1) BioMed Central 10.1136/jitc-2022-005714

Schlichtner, Stephanie; Yasinska, Inna M; Ruggiero, Sabrina; Berger, Steffen M; Aliu, Nijas; Prunk, Mateja; Kos, Janko; Meyer, N Helge; Gibbs, Bernhard F; Fasler-Kan, Elizaveta; Sumbayev, Vadim V (2022). Expression of the Immune Checkpoint Protein VISTA Is Differentially Regulated by the TGF-β1 - Smad3 Signaling Pathway in Rapidly Proliferating Human Cells and T Lymphocytes. Frontiers in medicine, 9, p. 790995. Frontiers 10.3389/fmed.2022.790995

Rusca, Nicola

Lämmle, Alexander; Schaller, André; Rusca, Nicola; Kurth, Sandra; Salvisberg, Claudia; Fuhrer Kradolfer, Katharina; Wyder, Corinne (2021). Erleichterung und Sorge, Hoffnung und Angst – der Weg zur Diagnosestellung einer SLC16A2-Mutation. Paediatrica, 32(1) Schweizerische Gesellschaft für Pädiatrie SGP 10.35190/d2021.1.2

Rössler, Jochen Karl

Themis-Areti A, Andreoti; Tuleja, Aleksandra; Döring, Yvonne; Maiolo, Massimo; Schaller, André; Vassella, Erik; Zweier, Christiane; Boon, Laurence M; Vikkula, Miikka; Rössler, Jochen; Bernhard, Sarah M.; Baumgartner, Iris (2023). Parkes Weber Syndrome: Contribution of the Genotype to the Diagnosis. Journal of vascular anomalies, 4(4), e076. Wolters Kluwer Health 10.1097/JOVA.0000000000000076

Meyer-Landolt, Lukas; Gaspar, Harald; Sanz, Javier; Trippel, Mafalda; Sabina, Gallati; Rössler, Jochen (2022). Cutaneous squamous cell carcinoma in an autosomal-recessive Adams-Oliver syndrome patient with a novel frameshift pathogenic variant in the EOGT gene. American journal of medical genetics. Part A, 188(11), pp. 3318-3323. Wiley-Liss 10.1002/ajmg.a.62961

Santi, Maristella

Santi, Maristella; Grafmüller, Stefanie; Zeino, Mazen; Cools, Martine; Van De Vijver, Koen; Trippel, Mafalda; Aliu, Nijas; Flück, Christa E (2021). Approach to the Virilizing Girl at Puberty. The Journal of clinical endocrinology and metabolism, 106(5), pp. 1530-1539. Oxford University Press 10.1210/clinem/dgaa948

Sanz, Javier

Barben, Jürg; Pedersen, Eva S. L.; Berger, Daria; Rueegg, Corina S.; Sanz, Javier; Sluka, Susanna; Baumgartner, Matthias; Kuehni, Claudia E. (2023). Dix ans de dépistage néonatal de la mucoviscidose en Suisse. Swiss medical forum, 23(5), pp. 871-874. EMH Schweizerischer Ärzteverlag AG 10.4414/smf.2023.09321

Banka, Siddharth; Bennington, Abigail; Baker, Martin J; Rijckmans, Ellen; Clemente, Giuliana D; Ansor, Nurhuda Mohamad; Sito, Hilary; Prasad, Pritha; Anyane-Yeboa, Kwame; Badalato, Lauren; Dimitrov, Boyan; Fitzpatrick, David; Hurst, Anna C E; Jansen, Anna C; Kelly, Melissa A; Krantz, Ian; Rieubland, Claudine; Ross, Meredith; Rudy, Natasha L; Sanz, Javier; ... (2022). Activating RAC1 variants in the switch II region cause a developmental syndrome and alter neuronal morphology. Brain : a journal of neurology, 145(12), pp. 4232-4245. Oxford University Press 10.1093/brain/awac049

Agbariah, Nada; Sanz, Javier; Rovó, Alicia (2022). “A Dangerous Black Box:” Idiopathic Hemophagocytic Lymphohistiocytosis in Adult Patients—A Case Report and Review of the Literature. Case reports in hematology, 2022, pp. 1-8. Hindawi 10.1155/2022/5867129

Meyer-Landolt, Lukas; Gaspar, Harald; Sanz, Javier; Trippel, Mafalda; Sabina, Gallati; Rössler, Jochen (2022). Cutaneous squamous cell carcinoma in an autosomal-recessive Adams-Oliver syndrome patient with a novel frameshift pathogenic variant in the EOGT gene. American journal of medical genetics. Part A, 188(11), pp. 3318-3323. Wiley-Liss 10.1002/ajmg.a.62961

Kollbrunner, Lara; Hirt-Minkowski, Patricia; Sanz, Javier; Bresin, Elena; Neuhaus, Thomas J; Hopfer, Helmut; Jehle, Andreas W (2021). Case Report: Lipoprotein Glomerulopathy Complicated by Atypical Hemolytic Uremic Syndrome. Frontiers in medicine, 8, p. 679048. Frontiers 10.3389/fmed.2021.679048

Schaller, André

Anderegg, Manuel A; Olinger, Eric G; Bargagli, Matteo; Geraghty, Rob; Taylor, Lea; Nater, Alexander; Bruggmann, Rémy; Sayer, John A; Vogt, Bruno; Schaller, André; Fuster, Daniel G (2024). Prevalence and characteristics of genetic disease in adult kidney stone formers. (In Press). Nephrology, dialysis, transplantation Oxford University Press 10.1093/ndt/gfae074

Meyer, Christoph; Hertig, Damian; Arnold, Janine; Urzì, Christian; Kurth, Sandra; Mayr, Johannes A; Schaller, André; Vermathen, Peter; Nuoffer, Jean-Marc (2024). Complex I, V, and MDH2 deficient human skin fibroblasts reveal distinct metabolic signatures by 1 H HR-MAS NMR. Journal of inherited metabolic disease, 47(2), pp. 270-279. Springer 10.1002/jimd.12696

Themis-Areti A, Andreoti; Tuleja, Aleksandra; Döring, Yvonne; Maiolo, Massimo; Schaller, André; Vassella, Erik; Zweier, Christiane; Boon, Laurence M; Vikkula, Miikka; Rössler, Jochen; Bernhard, Sarah M.; Baumgartner, Iris (2023). Parkes Weber Syndrome: Contribution of the Genotype to the Diagnosis. Journal of vascular anomalies, 4(4), e076. Wolters Kluwer Health 10.1097/JOVA.0000000000000076

Ramosaj, Adhuresa; Singhal, Palak; Schaller, André; Laemmle, Alexander (2023). Induced pluripotent stem cell technology as diagnostic tool in patients with suspected ornithine transcarbamylase deficiency lacking genetic confirmation. Molecular genetics and metabolism reports, 37(101007), p. 101007. Elsevier 10.1016/j.ymgmr.2023.101007

Di Lazzaro Filho, Ricardo; Yamamoto, Guilherme Lopes; Silva, Tiago J; Rocha, Leticia A; Linnenkamp, Bianca D W; Castro, Matheus Augusto Araújo; Bartholdi, Deborah; Schaller, André; Leeb, Tosso; Kelmann, Samantha; Utagawa, Claudia Y; Steiner, Carlos E; Steinmetz, Leandra; Honjo, Rachel Sayuri; Kim, Chong Ae; Wang, Lisa; Abourjaili-Bilodeau, Raphaël; Campeau, Philippe; Warman, Matthew; Passos-Bueno, Maria Rita; ... (2023). Biallelic variants in DNA2 cause poikiloderma with congenital cataracts and severe growth failure reminiscent of Rothmund-Thomson syndrome. Journal of medical genetics, 60(11), pp. 1127-1132. BMJ Publishing Group 10.1136/jmg-2022-109119

Grassi, Mara; Laubscher, Bernard; Pandey, Amit V; Tschumi, Sibylle; Graber, Franziska; Schaller, André; Janner, Marco; Aeberli, Daniel; Hewer, Ekkehard; Nuoffer, Jean-Marc; Gautschi, Matthias (2023). Expanding the p.(Arg85Trp) Variant-Specific Phenotype of HNF4A: Features of Glycogen Storage Disease, Liver Cirrhosis, Impaired Mitochondrial Function, and Glomerular Changes. Molecular syndromology, 14(4), pp. 347-361. Karger 10.1159/000529306

Anderegg, Manuel A.; Olinger, Eric G.; Bargagli, Matteo; Geraghty, Rob; Pohlmeier, Lea; Nater, Alexander; Bruggmann, Rémy; Sayer, John A.; Vogt, Bruno; Schaller, André; Fuster, Daniel G. (27 July 2023). Prevalence and characteristics of monogenic disease in adult kidney stone formers (medRxiv). Cold Spring Harbor Laboratory 10.1101/2023.07.23.23292924

Hundsberger, Felix; Escher, Pascal; Schaller, André; Valmaggia, Christophe; Todorova, Margarita G (2023). The Value of a Combined Ophthalmogenetic Approach in Differentiating a Presumed Case of Isolated Retinitis Pigmentosa from Refsum Disease. Klinische Monatsblätter für Augenheilkunde, 240(4), pp. 549-552. Thieme 10.1055/a-2055-1051

Sanlialp, Ayse; Escher, Pascal; Schaller, André; Todorova, Margarita (2023). Clinical Heterogeneity in Two Siblings Harbouring a Heterozygous PRPH2 Pathogenic Variant. Klinische Monatsblätter für Augenheilkunde, 240(4), pp. 536-543. Thieme 10.1055/a-2034-6250

Gschwind, Markus; Garcia Segarra, Nuria; Schaller, André; Bolognini, Ramona; Nuoffer, Jean-Marc; Hourez, Raphael; Deprez, Manuel; Lhermitte, Benoit; Maeder, Philippe; Tran, Christel; Kuntzer, Thierry (2022). Early-onset leukoencephalomyelopathy due to a biallelic NDUFV1 variant in a mid-forties patient. Annals of Clinical and Translational Neurology, 9(6), pp. 888-892. Wiley 10.1002/acn3.51556

Schaller, André (2021). Mitochondriopathien - Erkrankungen zweier Genome. In: Müller, Hansjakob; Hadorn, Hans-Beat (eds.) Humangenetik und Anthropologie heute (pp. 23-34). Schwabe Verlag

Laemmle, Alexander; Steck, Andrea Lisa; Schaller, André; Kurth, Sandra; Perret Hoigné, Eveline; Felser, Andrea Deborah; Slavova, Nedelina; Salvisberg, Claudia; Atencio, Mariana; Mochel, Fanny; Nuoffer, Jean-Marc; Gautschi, Matthias (2021). Triheptanoin - Novel therapeutic approach for the ultra-rare disease mitochondrial malate dehydrogenase deficiency. Molecular genetics and metabolism reports, 29, p. 100814. Elsevier 10.1016/j.ymgmr.2021.100814

Yogarajah, J.; Gouveia, C.; Iype, J.; Häfliger, Stefanie; Schaller, A.; Nuoffer, J. M.; Fux, M.; Gautschi, M. (2021). Efficacy and safety of secukinumab for the treatment of severe ABCA12 deficiency‐related ichthyosis in a child. Skin health and disease, 1(2), e25. Wiley 10.1002/ski2.25

Buhler, Virginie M. M.; Berger, Lieselotte; Schaller, André; Zinkernagel, Martin S.; Wolf, Sebastian; Escher, Pascal (2021). Absence of Genotype/Phenotype Correlations Requires Molecular Diagnostic to Ascertain Stargardt and Stargardt-Like Swiss Patients. Genes, 12(6) MDPI, Molecular Diversity Preservation International 10.3390/genes12060812

Lämmle, Alexander; Schaller, André; Rusca, Nicola; Kurth, Sandra; Salvisberg, Claudia; Fuhrer Kradolfer, Katharina; Wyder, Corinne (2021). Erleichterung und Sorge, Hoffnung und Angst – der Weg zur Diagnosestellung einer SLC16A2-Mutation. Paediatrica, 32(1) Schweizerische Gesellschaft für Pädiatrie SGP 10.35190/d2021.1.2

Degen, Martin; Girousi, Eleftheria; Feldmann, Julia; Parisi, Ludovica; La Scala, Giorgio C.; Schnyder, Isabelle; Schaller, André; Katsaros, Christos (2020). A Novel Van der Woude Syndrome-Causing IRF6 Variant Is Subject to Incomplete Non-sense-Mediated mRNA Decay Affecting the Phenotype of Keratinocytes. Frontiers in cell and developmental biology, 8, p. 583115. Frontiers 10.3389/fcell.2020.583115

Vaclavik, Veronika; Naderi, Francine; Schaller, André; Escher, Pascal (2020). Longitudinal case study and phenotypic multimodal characterization of McArdle disease-linked retinopathy: insight into pathomechanisms. Ophthalmic genetics, 41(1), pp. 73-78. Taylor & Francis 10.1080/13816810.2020.1727536

Sinnecker, Tim; Andelova, Michaela; Mayr, Michael; Rüegg, Stephan; Sinnreich, Michael; Hench, Juergen; Frank, Stephan; Schaller, André; Stippich, Christoph; Wuerfel, Jens; Bonati, Leo H (2019). Diagnosis of adult-onset MELAS syndrome in a 63-year-old patient with suspected recurrent strokes - a case report. BMC neurology, 19(1), p. 91. BioMed Central 10.1186/s12883-019-1306-6

Lazdinyte, Simona; Schorderet, Daniel F; Schaller, André; Valmaggia, Christophe; Todorova, Margarita G (2019). Analysis of Inherited Optic Neuropathies. Klinische Monatsblätter für Augenheilkunde, 236(4), pp. 451-461. Thieme 10.1055/a-0829-6828

Schiller, Rike

Oestreich, Marc-Alexander; Keller, Fabian; Bovermann, Xenia; Braun, Dominique; Schiller, Rike; Raio, Luigi; Zweier, Christiane; Casaulta, Carmen; Usemann, Jakob; Kidszun, André; Popa-Todirenchi, Mircea-Horia (2024). A Mild Case of Jeune Syndrome Associated with a Recurrent Missense Variant in DYNC2H1: Confirmation of a Genotype-Phenotype Correlation. Klinische Pädiatrie, 236(2), pp. 145-147. Thieme 10.1055/a-2235-6201

Schnyder, Isabelle

Degen, Martin; Girousi, Eleftheria; Feldmann, Julia; Parisi, Ludovica; La Scala, Giorgio C.; Schnyder, Isabelle; Schaller, André; Katsaros, Christos (2020). A Novel Van der Woude Syndrome-Causing IRF6 Variant Is Subject to Incomplete Non-sense-Mediated mRNA Decay Affecting the Phenotype of Keratinocytes. Frontiers in cell and developmental biology, 8, p. 583115. Frontiers 10.3389/fcell.2020.583115

Servatius, Helge Simon

Rieder, Marina; Kreifels, Paul; Stuplich, Judith; Ziupa, David; Servatius, Helge; Nicolai, Luisa; Castiglione, Alessandro; Zweier, Christiane; Asatryan, Babken; Odening, Katja E (2022). Genotype-Specific ECG-Based Risk Stratification Approaches in Patients With Long-QT Syndrome. Frontiers in cardiovascular medicine, 9, p. 916036. Frontiers 10.3389/fcvm.2022.916036

Singhal, Palak

Ramosaj, Adhuresa; Singhal, Palak; Schaller, André; Laemmle, Alexander (2023). Induced pluripotent stem cell technology as diagnostic tool in patients with suspected ornithine transcarbamylase deficiency lacking genetic confirmation. Molecular genetics and metabolism reports, 37(101007), p. 101007. Elsevier 10.1016/j.ymgmr.2023.101007

Slavova, Nedelina Bozhidarova

Laemmle, Alexander; Steck, Andrea Lisa; Schaller, André; Kurth, Sandra; Perret Hoigné, Eveline; Felser, Andrea Deborah; Slavova, Nedelina; Salvisberg, Claudia; Atencio, Mariana; Mochel, Fanny; Nuoffer, Jean-Marc; Gautschi, Matthias (2021). Triheptanoin - Novel therapeutic approach for the ultra-rare disease mitochondrial malate dehydrogenase deficiency. Molecular genetics and metabolism reports, 29, p. 100814. Elsevier 10.1016/j.ymgmr.2021.100814

Sokollik, Christiane

Lenz, Dominic; Schlieben, Lea D; Shimura, Masaru; Bianzano, Alyssa; Smirnov, Dmitrii; Kopajtich, Robert; Berutti, Riccardo; Adam, Rüdiger; Aldrian, Denise; Baric, Ivo; Baumann, Ulrich; Bozbulut, Neslihan Eksi; Brugger, Melanie; Brunet, Theresa; Bufler, Philip; Burnytė, Birutė; Calvo, Pier Luigi; Crushell, Ellen; Dalgıç, Buket; Das, Anibh M; ... (2023). Genetic landscape of pediatric acute liver failure of indeterminate origin. (In Press). Hepatology Wiley 10.1097/HEP.0000000000000684

Taylor, Lea

Anderegg, Manuel A; Olinger, Eric G; Bargagli, Matteo; Geraghty, Rob; Taylor, Lea; Nater, Alexander; Bruggmann, Rémy; Sayer, John A; Vogt, Bruno; Schaller, André; Fuster, Daniel G (2024). Prevalence and characteristics of genetic disease in adult kidney stone formers. (In Press). Nephrology, dialysis, transplantation Oxford University Press 10.1093/ndt/gfae074

Tinkhauser, Gerd

Sousa, M; Maamari, B; Bremova, T; Nuoffer, J M; Wiest, R; Amstutz, D; Krack, P; Bartholdi, D; Tinkhauser, G (2024). Late adult-onset Niemann Pick type C (NPC): An "atypical" typical presentation at the age of 62. Parkinsonism & related disorders, 120, p. 105460. Elsevier 10.1016/j.parkreldis.2023.105460

Trippel, Mafalda Arasceli

Meyer-Landolt, Lukas; Gaspar, Harald; Sanz, Javier; Trippel, Mafalda; Sabina, Gallati; Rössler, Jochen (2022). Cutaneous squamous cell carcinoma in an autosomal-recessive Adams-Oliver syndrome patient with a novel frameshift pathogenic variant in the EOGT gene. American journal of medical genetics. Part A, 188(11), pp. 3318-3323. Wiley-Liss 10.1002/ajmg.a.62961

Santi, Maristella; Grafmüller, Stefanie; Zeino, Mazen; Cools, Martine; Van De Vijver, Koen; Trippel, Mafalda; Aliu, Nijas; Flück, Christa E (2021). Approach to the Virilizing Girl at Puberty. The Journal of clinical endocrinology and metabolism, 106(5), pp. 1530-1539. Oxford University Press 10.1210/clinem/dgaa948

Tschumi, Sibylle

Grassi, Mara; Laubscher, Bernard; Pandey, Amit V; Tschumi, Sibylle; Graber, Franziska; Schaller, André; Janner, Marco; Aeberli, Daniel; Hewer, Ekkehard; Nuoffer, Jean-Marc; Gautschi, Matthias (2023). Expanding the p.(Arg85Trp) Variant-Specific Phenotype of HNF4A: Features of Glycogen Storage Disease, Liver Cirrhosis, Impaired Mitochondrial Function, and Glomerular Changes. Molecular syndromology, 14(4), pp. 347-361. Karger 10.1159/000529306

Tuleja, Aleksandra Beata

Themis-Areti A, Andreoti; Tuleja, Aleksandra; Döring, Yvonne; Maiolo, Massimo; Schaller, André; Vassella, Erik; Zweier, Christiane; Boon, Laurence M; Vikkula, Miikka; Rössler, Jochen; Bernhard, Sarah M.; Baumgartner, Iris (2023). Parkes Weber Syndrome: Contribution of the Genotype to the Diagnosis. Journal of vascular anomalies, 4(4), e076. Wolters Kluwer Health 10.1097/JOVA.0000000000000076

Urzì, Christian

Meyer, Christoph; Hertig, Damian; Arnold, Janine; Urzì, Christian; Kurth, Sandra; Mayr, Johannes A; Schaller, André; Vermathen, Peter; Nuoffer, Jean-Marc (2024). Complex I, V, and MDH2 deficient human skin fibroblasts reveal distinct metabolic signatures by 1 H HR-MAS NMR. Journal of inherited metabolic disease, 47(2), pp. 270-279. Springer 10.1002/jimd.12696

Vassella, Erik

Themis-Areti A, Andreoti; Tuleja, Aleksandra; Döring, Yvonne; Maiolo, Massimo; Schaller, André; Vassella, Erik; Zweier, Christiane; Boon, Laurence M; Vikkula, Miikka; Rössler, Jochen; Bernhard, Sarah M.; Baumgartner, Iris (2023). Parkes Weber Syndrome: Contribution of the Genotype to the Diagnosis. Journal of vascular anomalies, 4(4), e076. Wolters Kluwer Health 10.1097/JOVA.0000000000000076

Vermathen, Peter

Meyer, Christoph; Hertig, Damian; Arnold, Janine; Urzì, Christian; Kurth, Sandra; Mayr, Johannes A; Schaller, André; Vermathen, Peter; Nuoffer, Jean-Marc (2024). Complex I, V, and MDH2 deficient human skin fibroblasts reveal distinct metabolic signatures by 1 H HR-MAS NMR. Journal of inherited metabolic disease, 47(2), pp. 270-279. Springer 10.1002/jimd.12696

Vogt, Bruno

Anderegg, Manuel A; Olinger, Eric G; Bargagli, Matteo; Geraghty, Rob; Taylor, Lea; Nater, Alexander; Bruggmann, Rémy; Sayer, John A; Vogt, Bruno; Schaller, André; Fuster, Daniel G (2024). Prevalence and characteristics of genetic disease in adult kidney stone formers. (In Press). Nephrology, dialysis, transplantation Oxford University Press 10.1093/ndt/gfae074

Anderegg, Manuel A.; Olinger, Eric G.; Bargagli, Matteo; Geraghty, Rob; Pohlmeier, Lea; Nater, Alexander; Bruggmann, Rémy; Sayer, John A.; Vogt, Bruno; Schaller, André; Fuster, Daniel G. (27 July 2023). Prevalence and characteristics of monogenic disease in adult kidney stone formers (medRxiv). Cold Spring Harbor Laboratory 10.1101/2023.07.23.23292924

Vuilleumier, Sébastian

Ferrario, Alessandra; Aliu, Nijas; Rieubland, Claudine; Vuilleumier, Sébastian; Grabe, Hilary M.; Escher, Pascal (2023). Expanding Genotype/Phenotype Correlation in 2p11.2-p12 Microdeletion Syndrome. Genes, 14(12) MDPI, Molecular Diversity Preservation International 10.3390/genes14122222

Wiest, Roland Gerhard Rudi

Sousa, M; Maamari, B; Bremova, T; Nuoffer, J M; Wiest, R; Amstutz, D; Krack, P; Bartholdi, D; Tinkhauser, G (2024). Late adult-onset Niemann Pick type C (NPC): An "atypical" typical presentation at the age of 62. Parkinsonism & related disorders, 120, p. 105460. Elsevier 10.1016/j.parkreldis.2023.105460

Wolf, Sebastian

Buhler, Virginie M. M.; Berger, Lieselotte; Schaller, André; Zinkernagel, Martin S.; Wolf, Sebastian; Escher, Pascal (2021). Absence of Genotype/Phenotype Correlations Requires Molecular Diagnostic to Ascertain Stargardt and Stargardt-Like Swiss Patients. Genes, 12(6) MDPI, Molecular Diversity Preservation International 10.3390/genes12060812

Zeino, Mazen

Santi, Maristella; Grafmüller, Stefanie; Zeino, Mazen; Cools, Martine; Van De Vijver, Koen; Trippel, Mafalda; Aliu, Nijas; Flück, Christa E (2021). Approach to the Virilizing Girl at Puberty. The Journal of clinical endocrinology and metabolism, 106(5), pp. 1530-1539. Oxford University Press 10.1210/clinem/dgaa948

Zinkernagel, Martin Sebastian

Buhler, Virginie M. M.; Berger, Lieselotte; Schaller, André; Zinkernagel, Martin S.; Wolf, Sebastian; Escher, Pascal (2021). Absence of Genotype/Phenotype Correlations Requires Molecular Diagnostic to Ascertain Stargardt and Stargardt-Like Swiss Patients. Genes, 12(6) MDPI, Molecular Diversity Preservation International 10.3390/genes12060812

Zweier, Christiane Gertrud

de Masfrand, Servane; Cogné, Benjamin; Nizon, Mathilde; Deb, Wallid; Goldenberg, Alice; Lecoquierre, François; Nicolas, Gaël; Bournez, Marie; Vitobello, Antonio; Mau-Them, Frédéric Tran; le Guyader, Gwenaël; Bilan, Frédéric; Bauer, Peter; Zweier, Christiane; Piard, Juliette; Pasquier, Laurent; Bézieau, Stéphane; Gerard, Bénédicte; Faivre, Laurence; Saugier-Veber, Pascale; ... (2024). Penetrance, variable expressivity and monogenic neurodevelopmental disorders. (In Press). European journal of medical genetics, 69, p. 104932. Elsevier 10.1016/j.ejmg.2024.104932

Ha, Thoa; Morgan, Angela; Bartos, Meghan N; Beatty, Katelyn; Cogné, Benjamin; Braun, Dominique; Gerber, Céline B; Gaspar, Harald; Kopps, Anna M; Rieubland, Claudine; Hurst, Anna C E; Amor, David J; Nizon, Mathilde; Pasquier, Laurent; Pfundt, Rolph; Reis, André; Siu, Victoria Mok; Tessarech, Marine; Thompson, Michelle L; Vincent, Marie; ... (2024). De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay. (In Press). American journal of medical genetics. Part A(e63559), e63559. Wiley-Liss 10.1002/ajmg.a.63559

Oestreich, Marc-Alexander; Keller, Fabian; Bovermann, Xenia; Braun, Dominique; Schiller, Rike; Raio, Luigi; Zweier, Christiane; Casaulta, Carmen; Usemann, Jakob; Kidszun, André; Popa-Todirenchi, Mircea-Horia (2024). A Mild Case of Jeune Syndrome Associated with a Recurrent Missense Variant in DYNC2H1: Confirmation of a Genotype-Phenotype Correlation. Klinische Pädiatrie, 236(2), pp. 145-147. Thieme 10.1055/a-2235-6201

Themis-Areti A, Andreoti; Tuleja, Aleksandra; Döring, Yvonne; Maiolo, Massimo; Schaller, André; Vassella, Erik; Zweier, Christiane; Boon, Laurence M; Vikkula, Miikka; Rössler, Jochen; Bernhard, Sarah M.; Baumgartner, Iris (2023). Parkes Weber Syndrome: Contribution of the Genotype to the Diagnosis. Journal of vascular anomalies, 4(4), e076. Wolters Kluwer Health 10.1097/JOVA.0000000000000076

Rinaldi, Berardo; Bayat, Allan; Zachariassen, Linda G; Sun, Jia-Hui; Ge, Yu-Han; Zhao, Dan; Bonde, Kristine; Madsen, Laura H; Awad, Ilham Abdimunim Ali; Bagiran, Duygu; Sbeih, Amal; Shah, Syeda Maidah; El-Sayed, Shaymaa; Lyngby, Signe M; Pedersen, Miriam G; Stenum-Berg, Charlotte; Walker, Louise Claudia; Krey, Ilona; Delahaye-Duriez, Andrée; Emrick, Lisa T; ... (2023). Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes. (In Press). Brain : a journal of neurology Oxford University Press 10.1093/brain/awad403

Langhammer, Franziska; Maroofian, Reza; Badar, Rueda; Gregor, Anne; Rochman, Michelle; Ratliff, Jeffrey B; Koopmans, Marije; Herget, Theresia; Hempel, Maja; Kortüm, Fanny; Heron, Delphine; Mignot, Cyril; Keren, Boris; Brooks, Susan; Botti, Christina; Ben-Zeev, Bruria; Argilli, Emanuela; Sherr, Elliot H; Gowda, Vykuntaraju K; Srinivasan, Varunvenkat M; ... (2023). Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders. Genetics in medicine, 25(8), p. 100885. Springer Nature 10.1016/j.gim.2023.100885

Rieder, Marina; Zweier, Christiane; Odening, Katja E (2023). Novel Insights Into the Prevalence of TNNI3K-Mediated Dilated Cardiomyopathy and Putative Disease Mechanisms. Circulation. Genomic and precision medicine, 16(4), pp. 337-339. American Heart Association 10.1161/CIRCGEN.123.004207

Morison, Lottie D; Meffert, Elisabeth; Stampfer, Miriam; Steiner-Wilke, Irene; Vollmer, Brigitte; Schulze, Katrin; Briggs, Tracy; Braden, Ruth; Vogel, Adam; Thompson-Lake, Daisy; Patel, Chirag; Blair, Edward; Goel, Himanshu; Turner, Samantha; Moog, Ute; Riess, Angelika; Liegeois, Frederique; Koolen, David A; Amor, David J; Kleefstra, Tjitske; ... (2023). In-depth characterisation of a cohort of individuals with missense and loss-of-function variants disrupting FOXP2. Journal of medical genetics, 60(6), pp. 597-607. BMJ Publishing Group 10.1136/jmg-2022-108734

Gehin, Charlotte; Lone, Museer A; Lee, Winston; Capolupo, Laura; Ho, Sylvia; Adeyemi, Adekemi M; Gerkes, Erica H; Stegmann, Alexander Pa; López-Martín, Estrella; Bermejo-Sánchez, Eva; Martínez-Delgado, Beatriz; Zweier, Christiane; Kraus, Cornelia; Popp, Bernt; Strehlow, Vincent; Gräfe, Daniel; Knerr, Ina; Jones, Eppie R; Zamuner, Stefano; Abriata, Luciano A; ... (2023). CERT1 mutations perturb human development by disrupting sphingolipid homeostasis. The journal of clinical investigation, 133(10) American Society for Clinical Investigation 10.1172/JCI165019

Sheppard, Sarah E; Bryant, Laura; Wickramasekara, Rochelle N; Vaccaro, Courtney; Robertson, Brynn; Hallgren, Jodi; Hulen, Jason; Watson, Cynthia J; Faundes, Victor; Duffourd, Yannis; Lee, Pearl; Simon, M Celeste; de la Cruz, Xavier; Padilla, Natália; Flores-Mendez, Marco; Akizu, Naiara; Smiler, Jacqueline; Pellegrino Da Silva, Renata; Li, Dong; March, Michael; ... (2023). Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice. Science Advances, 9(10), eade1463. American Association for the Advancement of Science 10.1126/sciadv.ade1463

Popp, Bernt; Bienvenu, Thierry; Giurgea, Irina; Metreau, Julia; Kraus, Cornelia; Reis, André; Fischer, Jan; Bralo, María Palomares; Castano, Jair Tenorio; Lapunzina, Pablo; Almoguera, Berta; Lopez-Grondona, Fermina; Sticht, Heinrich; Zweier, Christiane (2022). The recurrent TCF4 missense variant p.(Arg389Cys) causes a neurodevelopmental disorder overlapping with but not typical for Pitt-Hopkins syndrome. Clinical genetics, 102(6), pp. 517-523. Wiley 10.1111/cge.14206

Gerber, Céline B; Fliedner, Anna; Bartsch, Oliver; Berland, Siren; Dewenter, Malin; Haug, Marte; Hayes, Ian; Marin-Reina, Purificacion; Mark, Paul R; Martinez-Castellano, Francisco; Maystadt, Isabelle; Karadurmus, Deniz; Steindl, Katharina; Wiesener, Antje; Zweier, Markus; Sticht, Heinrich; Zweier, Christiane (2022). Further characterization of Borjeson-Forssman-Lehmann syndrome in females due to de novo variants in PHF6. Clinical genetics, 102(3), pp. 182-190. Wiley 10.1111/cge.14173

Rieder, Marina; Kreifels, Paul; Stuplich, Judith; Ziupa, David; Servatius, Helge; Nicolai, Luisa; Castiglione, Alessandro; Zweier, Christiane; Asatryan, Babken; Odening, Katja E (2022). Genotype-Specific ECG-Based Risk Stratification Approaches in Patients With Long-QT Syndrome. Frontiers in cardiovascular medicine, 9, p. 916036. Frontiers 10.3389/fcvm.2022.916036

Al-Jawahiri, Reem; Foroutan, Aidin; Kerkhof, Jennifer; McConkey, Haley; Levy, Michael; Haghshenas, Sadegheh; Rooney, Kathleen; Turner, Jasmin; Shears, Debbie; Holder, Muriel; Lefroy, Henrietta; Castle, Bruce; Reis, Linda M; Semina, Elena V; Lachlan, Katherine; Chandler, Kate; Wright, Thomas; Clayton-Smith, Jill; Hug, Franziska Phan; Pitteloud, Nelly; ... (2022). SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile. Genetics in medicine, 24(6), pp. 1261-1273. Elsevier 10.1016/j.gim.2022.02.013

Gregor, Anne; Meerbrei, Tanja; Gerstner, Thorsten; Toutain, Annick; Lynch, Sally Ann; Stals, Karen; Maxton, Caroline; Lemke, Johannes R; Bernat, John A; Bombei, Hannah M; Foulds, Nicola; Hunt, David; Kuechler, Alma; Beygo, Jasmin; Stöbe, Petra; Bouman, Arjan; Palomares-Bralo, Maria; Santos-Simarro, Fernando; Garcia-Minaur, Sixto; Pacio-Miguez, Marta; ... (2022). De novo missense variants in FBXO11 alter its protein expression and subcellular localization. Human molecular genetics, 31(3), pp. 440-454. Oxford University Press 10.1093/hmg/ddab265

Hetzelt, Katalin L M L; Winterholler, Martin; Kerling, Frank; Rauch, Christophe; Ekici, Arif B; Winterpacht, Andreas; Vasileiou, Georgia; Uebe, Steffen; Thiel, Christian T; Kraus, Cornelia; Reis, André; Zweier, Christiane (2022). Manifestation of epilepsy in a patient with EED-related overgrowth (Cohen-Gibson syndrome). American journal of medical genetics. Part A, 188(1), pp. 292-297. Wiley 10.1002/ajmg.a.62496

Liu, Sanxiong; Aldinger, Kimberly A; Cheng, Chi Vicky; Kiyama, Takae; Dave, Mitali; McNamara, Hanna K; Zhao, Wukui; Stafford, James M; Descostes, Nicolas; Lee, Pedro; Caraffi, Stefano G; Ivanovski, Ivan; Errichiello, Edoardo; Zweier, Christiane; Zuffardi, Orsetta; Schneider, Michael; Papavasiliou, Antigone S; Perry, M Scott; Humberson, Jennifer; Cho, Megan T; ... (2021). NRF1 association with AUTS2-Polycomb mediates specific gene activation in the brain. Molecular cell, 81(22), p. 4757. Cell Press 10.1016/j.molcel.2021.10.023

Oates, Stephanie; Absoud, Michael; Goyal, Sushma; Bayley, Sophie; Baulcomb, Jennifer; Sims, Annemarie; Riddett, Amy; Allis, Katrina; Brasch-Andersen, Charlotte; Balasubramanian, Meena; Bai, Renkui; Callewaert, Bert; Hüffmeier, Ulrike; Le Duc, Diana; Radtke, Maximilian; Korff, Christian; Kennedy, Joanna; Low, Karen; Møller, Rikke S; Nielsen, Jens Erik Klint; ... (2021). ZMYND11 variants are a novel cause of centrotemporal and generalised epilepsies with neurodevelopmental disorder. Clinical genetics, 100(4), pp. 412-429. Wiley-Blackwell 10.1111/cge.14023

Bayat, Allan; Iqbal, Sumaiya; Borredy, Kim; Amiel, Jeanne; Zweier, Christiane Gertrud; Barcia, Guilia; Kraus, Cornelia; Weyhreter, Heike; Bassuk, Alexander G; Chopra, Maya; Rubboli, Guido; Møller, Rikke S (2021). PRICKLE2 revisited-further evidence implicating PRICKLE2 in neurodevelopmental disorders. European journal of human genetics, 29(8), pp. 1235-1244. Springer Nature 10.1038/s41431-021-00912-y

Mannucci, Ilaria; Dang, Nghi D P; Huber, Hannes; Murry, Jaclyn B; Abramson, Jeff; Althoff, Thorsten; Banka, Siddharth; Baynam, Gareth; Bearden, David; Beleza-Meireles, Ana; Benke, Paul J; Berland, Siren; Bierhals, Tatjana; Bilan, Frederic; Bindoff, Laurence A; Braathen, Geir Julius; Busk, Øyvind L; Chenbhanich, Jirat; Denecke, Jonas; Escobar, Luis F; ... (2021). Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders. Genome medicine, 13(1), p. 90. BioMed Central 10.1186/s13073-021-00900-3

Hüffmeier, Ulrike; Kraus, Cornelia; Reuter, Miriam S; Uebe, Steffen; Abbott, Mary-Alice; Ahmed, Syed A; Rawson, Kristyn L; Barr, Eileen; Li, Hong; Bruel, Ange-Line; Faivre, Laurence; Tran Mau-Them, Frédéric; Botti, Christina; Brooks, Susan; Burns, Kaitlyn; Ward, D Isum; Dutra-Clarke, Marina; Martinez-Agosto, Julian A; Lee, Hane; Nelson, Stanley F; ... (2021). EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum. Orphanet journal of rare diseases, 16(1), p. 136. BioMed Central 10.1186/s13023-021-01744-1

Hetzelt, Katalin L.M.L.; Kerling, Frank; Kraus, Cornelia; Rauch, Christophe; Thiel, Christian T.; Winterholler, Martin; Reis, André; Zweier, Christiane (2021). Early-onset parkinsonism in PPP2R5D-related neurodevelopmental disorder. European journal of medical genetics, 64(1), p. 104123. Elsevier 10.1016/j.ejmg.2020.104123

Kosztyła-Hojna, Bożena; Borys, Jan; Zdrojkowski, Maciej; Duchnowska, Emilia; Kraszewska, Anna; Wasilewska, Daria; Zweier, Christiane; Midro, Alina Teresa (2021). Phoniatric, Audiological, Orodental and Speech Problems in a Boy with Cardio-Facio-Cutaneous Syndrome Type 3 (CFC 3) Due to a Pathogenic Variant in MAP2K1 - Case Study. The application of clinical genetics, 14, pp. 389-398. Dove Press 10.2147/TACG.S316215

Schalk, Audrey; Cousin, Margot A; Dsouza, Nikita R; Challman, Thomas D; Wain, Karen E; Powis, Zoe; Minks, Kelly; Trimouille, Aurélien; Lasseaux, Eulalie; Lacombe, Didier; Angelini, Chloé; Michaud, Vincent; Van-Gils, Julien; Spataro, Nino; Ruiz, Anna; Gabau, Elizabeth; Stolerman, Elliot; Washington, Camerun; Louie, Ray; Lanpher, Brendan C; ... (2021). De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability. Journal of medical genetics, 59(10), pp. 965-975. BMJ Publishing Group 10.1136/jmedgenet-2021-107751

Fliedner, Anna; Gregor, Anne; Ferrazzi, Fulvia; Ekici, Arif B.; Sticht, Heinrich; Zweier, Christiane (2020). Loss of PHF6 leads to aberrant development of human neuron-like cells. Scientific reports, 10(1), p. 19030. Springer Nature 10.1038/s41598-020-75999-2

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