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34 results

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Page 1
Pallister-Killian Syndrome.
Chitkara R, Chock V, Barth R, Dahmoush H, Smith C, Matalon DR, Herring M, Hintz S. Chitkara R, et al. Among authors: matalon dr. Neoreviews. 2024 Nov 1;25(11):e751-e756. doi: 10.1542/neo.25-11-e751. Neoreviews. 2024. PMID: 39482245 No abstract available.
Beyond the exome: What's next in diagnostic testing for Mendelian conditions.
Wojcik MH, Reuter CM, Marwaha S, Mahmoud M, Duyzend MH, Barseghyan H, Yuan B, Boone PM, Groopman EE, Délot EC, Jain D, Sanchis-Juan A; Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium; Starita LM, Talkowski M, Montgomery SB, Bamshad MJ, Chong JX, Wheeler MT, Berger SI, O'Donnell-Luria A, Sedlazeck FJ, Miller DE. Wojcik MH, et al. Am J Hum Genet. 2023 Aug 3;110(8):1229-1248. doi: 10.1016/j.ajhg.2023.06.009. Am J Hum Genet. 2023. PMID: 37541186 Free PMC article. Review.
Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder.
Cuinat S, Nizon M, Isidor B, Stegmann A, van Jaarsveld RH, van Gassen KL, van der Smagt JJ, Volker-Touw CML, Holwerda SJB, Terhal PA, Schuhmann S, Vasileiou G, Khalifa M, Nugud AA, Yasaei H, Ousager LB, Brasch-Andersen C, Deb W, Besnard T, Simon MEH, Amsterdam KH, Verbeek NE, Matalon D, Dykzeul N, White S, Spiteri E, Devriendt K, Boogaerts A, Willemsen M, Brunner HG, Sinnema M, De Vries BBA, Gerkes EH, Pfundt R, Izumi K, Krantz ID, Xu ZL, Murrell JR, Valenzuela I, Cusco I, Rovira-Moreno E, Yang Y, Bizaoui V, Patat O, Faivre L, Tran-Mau-Them F, Vitobello A, Denommé-Pichon AS, Philippe C, Bezieau S, Cogné B. Cuinat S, et al. Among authors: matalon d. Genet Med. 2022 Aug;24(8):1774-1780. doi: 10.1016/j.gim.2022.04.011. Epub 2022 May 14. Genet Med. 2022. PMID: 35567594 Free article.
Points to consider to avoid unfair discrimination and the misuse of genetic information: A statement of the American College of Medical Genetics and Genomics (ACMG).
Seaver LH, Khushf G, King NMP, Matalon DR, Sanghavi K, Vatta M, Wees K; ACMG Social, Ethical and Legal Issues Committee. Electronic address: documents@acmg.net. Seaver LH, et al. Among authors: matalon dr. Genet Med. 2022 Mar;24(3):512-520. doi: 10.1016/j.gim.2021.11.002. Epub 2021 Dec 16. Genet Med. 2022. PMID: 35253645 Free article. No abstract available.
Transcriptome-wide outlier approach identifies individuals with minor spliceopathies.
Arriaga TM, Mendez R, Ungar RA, Bonner DE, Matalon DR, Lemire G, Goddard PC, Padhi EM, Miller AM, Nguyen JV, Ma J, Smith KS, Scott SA, Liao L, Ng Z, Marwaha S, Bademci G, Bivona SA, Tekin M; Undiagnosed Diseases Network; Genomics Research to Elucidate the Genetics of Rare Diseases consortium; Bernstein JA, Montgomery SB, O'Donnell-Luria A, Wheeler MT, Ganesh VS. Arriaga TM, et al. Among authors: matalon dr. Am J Hum Genet. 2025 Oct 2;112(10):2458-2475. doi: 10.1016/j.ajhg.2025.08.018. Epub 2025 Sep 19. Am J Hum Genet. 2025. PMID: 40975062
Transcriptome-wide outlier approach identifies individuals with minor spliceopathies.
Arriaga MT, Mendez R, Ungar RA, Bonner DE, Matalon DR, Lemire G, Goddard PC, Padhi EM, Miller AM, Nguyen JV, Ma J, Smith KS, Scott SA, Liao L, Ng Z, Marwaha S, Bademci G, Bivona SA, Tekin M; Undiagnosed Disease Network, Genomics Research to Elucidate the Genetics of Rare Diseases consortium; Bernstein JA, Montgomery SB, O'Donnell-Luria A, Wheeler MT, Ganesh VS. Arriaga MT, et al. Among authors: matalon dr. medRxiv [Preprint]. 2025 Jan 3:2025.01.02.24318941. doi: 10.1101/2025.01.02.24318941. medRxiv. 2025. Update in: Am J Hum Genet. 2025 Oct 2;112(10):2458-2475. doi: 10.1016/j.ajhg.2025.08.018. PMID: 39802771 Free PMC article. Updated. Preprint.
DNA methylation episignature for Witteveen-Kolk syndrome due to SIN3A haploinsufficiency.
Coenen-van der Spek J, Relator R, Kerkhof J, McConkey H, Levy MA, Tedder ML, Louie RJ, Fletcher RS, Moore HW, Childers A, Farrelly ER, Champaigne NL, Lyons MJ, Everman DB, Rogers RC, Skinner SA, Renck A, Matalon DR, Dills SK, Monteleone B, Demirdas S, Dingemans AJM, Donker Kaat L, Kolk SM, Pfundt R, Rump P, Sadikovic B, Kleefstra T, Butler KM. Coenen-van der Spek J, et al. Among authors: matalon dr. Genet Med. 2023 Jan;25(1):63-75. doi: 10.1016/j.gim.2022.10.004. Epub 2022 Nov 18. Genet Med. 2023. PMID: 36399132 Free article.
Characterization of the prenatal renal phenotype associated with 17q12, HNF1B, microdeletions.
Verscaj CP, Velez-Bartolomei F, Bodle E, Chan K, Lyons MJ, Thorson W, Tan WH, Rodig N, Graham JM Jr, Peron A, Quintero-Rivera F, Zackai EH, Thomas MA, Stevens CA, Adam MP, Bird LM, Jones MC, Matalon DR. Verscaj CP, et al. Among authors: matalon dr. Prenat Diagn. 2024 Feb;44(2):237-246. doi: 10.1002/pd.6424. Epub 2023 Aug 26. Prenat Diagn. 2024. PMID: 37632214 Review.
34 results