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

Up a level
Export as [feed] RSS
Jump to: 2022 | 2021 | 2020 | 2019
Number of items at this level: 33.

2022

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

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. (In Press). Clinical genetics Wiley 10.1111/cge.14206

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

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

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

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

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

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

2021

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

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

Epi25, Collaborative (2021). Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals. American journal of human genetics, 108(10), p. 2024. Cell Press 10.1016/j.ajhg.2021.08.008

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

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

Epi25, Collaborative (2021). Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals. American journal of human genetics, 108(6), pp. 965-982. Cell Press 10.1016/j.ajhg.2021.04.009

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) 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

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

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

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

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

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

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

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

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 BMJ Publishing Group 10.1136/jmedgenet-2021-107751

2020

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

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

2019

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

This list was generated on Mon Aug 15 03:44:46 2022 CEST.
Provide Feedback