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Quinodoz, Mathieu; Kaminska, Karolina; Cancellieri, Francesca; Han, Ji Hoon; Peter, Virginie G; Celik, Elifnaz; Janeschitz-Kriegl, Lucas; Schärer, Nils; Hauenstein, Daniela; György, Bence; Calzetti, Giacomo; Hahaut, Vincent; Custódio, Sónia; Sousa, Ana Cristina; Wada, Yuko; Murakami, Yusuke; Fernández, Almudena Avila; Hernández, Cristina Rodilla; Minguez, Pablo; Ayuso, Carmen; ... (2024). Detection of elusive DNA copy-number variations in hereditary disease and cancer through the use of noncoding and off-target sequencing reads. American journal of human genetics, 111(4), pp. 701-713. Cell Press 10.1016/j.ajhg.2024.03.001
Lee, Jong-Min; Huang, Yuan; Orth, Michael; Gillis, Tammy; Siciliano, Jacqueline; Hong, Eunpyo; Mysore, Jayalakshmi Srinidhi; Lucente, Diane; Wheeler, Vanessa C.; Seong, Ihn Sik; McLean, Zachariah L.; Mills, James A.; McAllister, Branduff; Lobanov, Sergey V.; Massey, Thomas H.; Ciosi, Marc; Landwehrmeyer, G. Bernhard; Paulsen, Jane S.; Dorsey, E. Ray; Shoulson, Ira; ... (2022). Genetic modifiers of Huntington disease differentially influence motor and cognitive domains. American journal of human genetics, 109(5), pp. 885-899. Cell Press 10.1016/j.ajhg.2022.03.004
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
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
Kraja, Aldi T; Liu, Chunyu; Fetterman, Jessica L; Graff, Mariaelisa; Have, Christian Theil; Gu, Charles; Yanek, Lisa R; Feitosa, Mary F; Arking, Dan E; Chasman, Daniel I; Young, Kristin; Ligthart, Symen; Hill, W David; Weiss, Stefan; Luan, Jian'an; Giulianini, Franco; Li-Gao, Ruifang; Hartwig, Fernando P; Lin, Shiow J; Wang, Lihua; ... (2019). Associations of Mitochondrial and Nuclear Mitochondrial Variants and Genes with Seven Metabolic Traits. American journal of human genetics, 104(1), pp. 112-138. Cell Press 10.1016/j.ajhg.2018.12.001
Moosa, Shahida; Yamamoto, Guilherme L; Garbes, Lutz; Keupp, Katharina; Beleza-Meireles, Ana; Moreno, Carolina Araujo; Valadares, Eugenia Ribeiro; de Sousa, Sérgio B; Maia, Sofia; Saraiva, Jorge; Honjo, Rachel S; Kim, Chong Ae; Cabral de Menezes, Hamilton; Lausch, Ekkehart; Lorini, Pablo Villavicencio; Lamounier, Arsonval; Carniero, Tulio Canella Bezerra; Giunta, Cecilia; Rohrbach, Marianne; Janner, Marco; ... (2019). Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta. American journal of human genetics, 105(4), pp. 836-843. Cell Press 10.1016/j.ajhg.2019.08.008
Ligthart, Symen; Vaez, Ahmad; Võsa, Urmo; Stathopoulou, Maria G; de Vries, Paul S; Prins, Bram P; Van der Most, Peter J; Tanaka, Toshiko; Naderi, Elnaz; Rose, Lynda M; Wu, Ying; Karlsson, Robert; Barbalic, Maja; Lin, Honghuang; Pool, René; Zhu, Gu; Macé, Aurélien; Sidore, Carlo; Trompet, Stella; Mangino, Massimo; ... (2018). Genome Analyses of >200,000 Individuals Identify 58 Loci for Chronic Inflammation and Highlight Pathways that Link Inflammation and Complex Disorders. American journal of human genetics, 103(5), pp. 691-706. Cell Press 10.1016/j.ajhg.2018.09.009
Anikster, Yair; Haack, Tobias B.; Vilboux, Thierry; Pode-Shakked, Ben; Thöny, Beat; Shen, Nan; Guarani, Virginia; Meissner, Thomas; Mayatepek, Ertan; Trefz, Friedrich K.; Marek-Yagel, Dina; Martinez, Aurora; Huttlin, Edward L.; Paulo, Joao A.; Berutti, Riccardo; Benoist, Jean-François; Imbard, Apolline; Dorboz, Imen; Heimer, Gali; Landau, Yuval; ... (2017). Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability. American journal of human genetics, 100(2), pp. 257-266. Cell Press 10.1016/j.ajhg.2017.01.002
Guella, Ilaria; McKenzie, Marna B; Evans, Daniel M; Bürki, Sarah Elisabeth; Toyota, Eric B; Van Allen, Margot I; Epilepsy Genomics Study, Study; Suri, Mohnish; Elmslie, Frances; Deciphering Developmental Disorders, Study; Simon, Marleen E H; van Gassen, Koen L I; Héron, Delphine; Keren, Boris; Nava, Caroline; Connolly, Mary B; Demos, Michelle; Farrer, Matthew J (2017). De Novo Mutations in YWHAG Cause Early-Onset Epilepsy. American journal of human genetics, 101(2), pp. 300-310. Cell Press 10.1016/j.ajhg.2017.07.004
Di Donato, Nataliya; Jean, Ying Y; Maga, A Murat; Krewson, Briana D; Shupp, Alison B; Avrutsky, Maria I; Roy, Achira; Collins, Sarah; Olds, Carissa; Willert, Rebecca A; Czaja, Agnieszka M; Johnson, Rachel; Stover, Jessi A; Gottlieb, Steven; Bartholdi, Deborah; Rauch, Anita; Goldstein, Amy; Boyd-Kyle, Victoria; Aldinger, Kimberly A; Mirzaa, Ghayda M; ... (2016). Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant. American journal of human genetics, 99(5), pp. 1117-1129. Cell Press 10.1016/j.ajhg.2016.09.010
Foll, Matthieu; Gaggiotti, Oscar; Daub, Joséphine; Vatsiou, Alexandra; Excoffier, Laurent (2014). Widespread Signals of Convergent Adaptation to High Altitude in Asia and America. American journal of human genetics, 95(4), pp. 394-407. Cell Press 10.1016/j.ajhg.2014.09.002
Nota, Benjamin; Struys, Eduard A; Pop, Ana; Jansen, Erwin E; Fernandez Ojeda, Matilde R; Kanhai, Warsha A; Kranendijk, Martijn; van Dooren, Silvy J M; Bevova, Marianna R; Sistermans, Erik A; Nieuwint, Aggie W M; Barth, Magalie; Ben-Omran, Tawfeg; Hoffmann, Georg F; de Lonlay, Pascale; McDonald, Marie T; Meberg, Alf; Muntau, Ania C; Nuoffer, Jean-Marc; Parini, Rossella; ... (2013). Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduria. American journal of human genetics, 92(4), pp. 627-31. New York, N.Y.: Cell Press 10.1016/j.ajhg.2013.03.009
Suls, Arvid; Jaehn, Johanna A.; Kecskés, Angela; Weber, Yvonne; Weckhuysen, Sarah; Craiu, Dana C.; Siekierska, Aleksandra; Djémié, Tania; Afrikanova, Tatiana; Gormley, Padhraig; von Spiczak, Sarah; Kluger, Gerhard; Iliescu, Catrinel M.; Talvik, Tiina; Talvik, Inga; Meral, Cihan; Caglayan, Hande S.; Giraldez, Beatriz G.; Serratosa, José; Lemke, Johannes; ... (2013). De Novo Loss-of-Function Mutations in CHD2 Cause a Fever-Sensitive Myoclonic Epileptic Encephalopathy Sharing Features with Dravet Syndrome. American journal of human genetics, 93(5), pp. 967-975. Cell Press 10.1016/j.ajhg.2013.09.017
Flück, Christa E; Meyer-Böni, Monika; Pandey, Amit V; Kempná, Petra; Miller, Walter L; Schoenle, Eugen J; Biason-Lauber, Anna (2011). Why boys will be boys: two pathways of fetal testicular androgen biosynthesis are needed for male sexual differentiation. American journal of human genetics, 89(2), pp. 201-18. New York, N.Y.: Cell Press 10.1016/j.ajhg.2011.06.009
Polok, Bozena; Escher, Pascal; Ambresin, Aude; Chouery, Eliane; Bolay, Sylvain; Meunier, Isabelle; Nan, Francis; Hamel, Christian; Munier, Francis L; Thilo, Bernard; Mégarbané, André; Schorderet, Daniel F (2009). Mutations in CNNM4 cause recessive cone-rod dystrophy with amelogenesis imperfecta. American journal of human genetics, 84(2), pp. 259-265. Cell Press 10.1016/j.ajhg.2009.01.006
Savage, Sharon A; Giri, Neelam; Baerlocher, Gabriela M; Orr, Nick; Lansdorp, Peter M; Alter, Blanche P (2008). TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita. American journal of human genetics, 82(2), pp. 501-9. New York, N.Y.: Cell Press 10.1016/j.ajhg.2007.10.004
Konrad, Martin; Schaller, André; Seelow, Dominik; Pandey, Amit Vikram; Waldegger, Siegfried; Lesslauer, Annegret; Vitzthum, Helga; Suzuki, Yoshiro; Luk, John M; Becker, Christian; Schlingmann, Karl P; Schmid, Marcel; Rodriguez-Soriano, Juan; Ariceta, Gema; Cano, Francisco; Enriquez, Ricardo; Juppner, Harald; Bakkaloglu, Sevcan A; Hediger, Matthias A; Gallati, Sabina; ... (2006). Mutations in the tight-junction gene claudin 19 (CLDN19) are associated with renal magnesium wasting, renal failure, and severe ocular involvement. American journal of human genetics, 79(5), pp. 949-57. New York, N.Y.: Cell Press 10.1086/508617
Huang, Ningwu; Pandey, Amit Vikram; Agrawal, Vishal; Reardon, William; Lapunzina, Pablo D.; Mowat, David; Jabs, Ethylin Wang; Van Vliet, Guy; Sack, Joseph; Flück Pandey, Christa Emma; Miller, Walter L. (2005). Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis. American journal of human genetics, 76(5), pp. 729-749. Cell Press 10.1086/429417
