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Year Number of Results
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Page 1
Practical considerations for reinterpretation of individual genetic variants.
Appelbaum PS, Berger SM, Brokamp E, Brown HS, Burke W, Clayton EW, Evans BJ, Hamid R, Marchant GE, Martin DM, O'Connor BC, Pagán JA, Parens E, Roberts JL, Rowe J, Schneider J, Siegel K, Veenstra DL, Chung WK. Appelbaum PS, et al. Among authors: berger sm. Genet Med. 2023 May;25(5):100801. doi: 10.1016/j.gim.2023.100801. Epub 2023 Feb 4. Genet Med. 2023. PMID: 36748709 Free PMC article.
Rare pathogenic variants in WNK3 cause X-linked intellectual disability.
Küry S, Zhang J, Besnard T, Caro-Llopis A, Zeng X, Robert SM, Josiah SS, Kiziltug E, Denommé-Pichon AS, Cogné B, Kundishora AJ, Hao LT, Li H, Stevenson RE, Louie RJ, Deb W, Torti E, Vignard V, McWalter K, Raymond FL, Rajabi F, Ranza E, Grozeva D, Coury SA, Blanc X, Brischoux-Boucher E, Keren B, Õunap K, Reinson K, Ilves P, Wentzensen IM, Barr EE, Guihard SH, Charles P, Seaby EG, Monaghan KG, Rio M, van Bever Y, van Slegtenhorst M, Chung WK, Wilson A, Quinquis D, Bréhéret F, Retterer K, Lindenbaum P, Scalais E, Rhodes L, Stouffs K, Pereira EM, Berger SM, Milla SS, Jaykumar AB, Cobb MH, Panchagnula S, Duy PQ, Vincent M, Mercier S, Gilbert-Dussardier B, Le Guillou X, Audebert-Bellanger S, Odent S, Schmitt S, Boisseau P, Bonneau D, Toutain A, Colin E, Pasquier L, Redon R, Bouman A, Rosenfeld JA, Friez MJ, Pérez-Peña H, Akhtar Rizvi SR, Haider S, Antonarakis SE, Schwartz CE, Martínez F, Bézieau S, Kahle KT, Isidor B. Küry S, et al. Among authors: berger sm. Genet Med. 2022 Sep;24(9):1941-1951. doi: 10.1016/j.gim.2022.05.009. Epub 2022 Jun 9. Genet Med. 2022. PMID: 35678782 Free article.
The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder.
Kumble S, Levy AM, Punetha J, Gao H, Ah Mew N, Anyane-Yeboa K, Benke PJ, Berger SM, Bjerglund L, Campos-Xavier B, Ciliberto M, Cohen JS, Comi AM, Curry C, Damaj L, Denommé-Pichon AS, Emrick L, Faivre L, Fasano MB, Fiévet A, Finkel RS, García-Miñaúr S, Gerard A, Gomez-Puertas P, Guillen Sacoto MJ, Hoffman TL, Howard L, Iglesias AD, Izumi K, Larson A, Leiber A, Lozano R, Marcos-Alcalde I, Mintz CS, Mullegama SV, Møller RS, Odent S, Oppermann H, Ostergaard E, Pacio-Míguez M, Palomares-Bralo M, Parikh S, Paulson AM, Platzer K, Posey JE, Potocki L, Revah-Politi A, Rio M, Ritter AL, Robinson S, Rosenfeld JA, Santos-Simarro F, Sousa SB; Undiagnosed Diseases Network; Wéber M, Xie Y, Chung WK, Brown NJ, Tümer Z. Kumble S, et al. Among authors: berger sm. Hum Mutat. 2022 Feb;43(2):266-282. doi: 10.1002/humu.24308. Epub 2021 Dec 11. Hum Mutat. 2022. PMID: 34859529 Free article.
Response to Faulkner et al.
Appelbaum PS, Parens E, Berger SM, Chung WK, Burke W. Appelbaum PS, et al. Among authors: berger sm. Genet Med. 2021 Jan;23(1):243. doi: 10.1038/s41436-020-00955-4. Epub 2020 Sep 2. Genet Med. 2021. PMID: 32873931 Free article. No abstract available.
Expanding the phenotype of ATP6AP1 deficiency.
Barua S, Berger S, Pereira EM, Jobanputra V. Barua S, et al. Among authors: berger s. Cold Spring Harb Mol Case Stud. 2022 Jun 22;8(4):a006195. doi: 10.1101/mcs.a006195. Print 2022 Jun. Cold Spring Harb Mol Case Stud. 2022. PMID: 35732497 Free PMC article.
Genetic Variant Reinterpretation: Economic and Population Health Management Challenges.
Pagán JA, Brown HS, Rowe J, Schneider JE, Veenstra DL, Gupta A, Berger SM, Chung WK, Appelbaum PS. Pagán JA, et al. Among authors: berger sm. Popul Health Manag. 2021 Jun;24(3):310-313. doi: 10.1089/pop.2020.0115. Epub 2020 Sep 9. Popul Health Manag. 2021. PMID: 32905743 Free PMC article. No abstract available.
35 results