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Page 1
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 symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy.
Banks E, Francis V, Lin SJ, Kharfallah F, Fonov V, Levesque M, Han C, Kulasekaran G, Tuznik M, Bayati A, Al-Khater R, Alkuraya FS, Argyriou L, Babaei M, Bahlo M, Bakhshoodeh B, Barr E, Bartik L, Bassiony M, Bertrand M, Braun D, Buchert R, Budetta M, Cadieux-Dion M, Calame D, Cope H, Cushing D, Efthymiou S, Elmaksoud MA, El Said HG, Froukh T, Gill HK, Gleeson JG, Gogoll L, Goh ES, Gowda VK, Haack TB, Hashem MO, Hauser S, Hoffman TL, Hogue JS, Hosokawa A, Houlden H, Huang K, Huynh S, Karimiani EG, Kaulfuß S, Korenke GC, Kritzer A, Lee H, Lupski JR, Marco EJ, McWalter K, Minassian A, Minassian BA, Murphy D, Neira-Fresneda J, Northrup H, Nyaga D, Oehl-Jaschkowitz B, Osmond M, Person R, Pehlivan D, Petree C, Sadleir LG, Saunders C, Schoels L, Shashi V, Spillman RC, Srinivasan VM, Torbati PN, Tos T; Undiagnosed Diseases Network; Zaki MS, Zhou D, Zweier C, Trempe JF, Durcan TM, Gan-Or Z, Avoli M, Alves C, Varshney GK, Maroofian R, Rudko DA, McPherson PS. Banks E, et al. Among authors: calame d. medRxiv [Preprint]. 2024 Jan 31:2022.08.23.22278845. doi: 10.1101/2022.08.23.22278845. medRxiv. 2024. Update in: Nat Commun. 2024 Aug 22;15(1):7239. doi: 10.1038/s41467-024-51310-z PMID: 38352438 Free PMC article. Updated. Preprint.
Considerations for reporting variants in novel candidate genes identified during clinical genomic testing.
Chong JX, Berger SI, Baxter S, Smith E, Xiao C, Calame DG, Hawley MH, Rivera-Munoz EA, DiTroia S; Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium; Bamshad MJ, Rehm HL. Chong JX, et al. bioRxiv [Preprint]. 2024 Jun 21:2024.02.05.579012. doi: 10.1101/2024.02.05.579012. bioRxiv. 2024. Update in: Genet Med. 2024 Oct;26(10):101199. doi: 10.1016/j.gim.2024.101199 PMID: 38370830 Free PMC article. Updated. Preprint.
High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population.
Mitani T, Isikay S, Gezdirici A, Gulec EY, Punetha J, Fatih JM, Herman I, Akay G, Du H, Calame DG, Ayaz A, Tos T, Yesil G, Aydin H, Geckinli B, Elcioglu N, Candan S, Sezer O, Erdem HB, Gul D, Demiral E, Elmas M, Yesilbas O, Kilic B, Gungor S, Ceylan AC, Bozdogan S, Ozalp O, Cicek S, Aslan H, Yalcintepe S, Topcu V, Bayram Y, Grochowski CM, Jolly A, Dawood M, Duan R, Jhangiani SN, Doddapaneni H, Hu J, Muzny DM; Baylor-Hopkins Center for Mendelian Genomics; Marafi D, Akdemir ZC, Karaca E, Carvalho CMB, Gibbs RA, Posey JE, Lupski JR, Pehlivan D. Mitani T, et al. Among authors: calame dg. Am J Hum Genet. 2021 Oct 7;108(10):1981-2005. doi: 10.1016/j.ajhg.2021.08.009. Epub 2021 Sep 28. Am J Hum Genet. 2021. PMID: 34582790 Free PMC article.
A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode.
Marafi D, Kozar N, Duan R, Bradley S, Yokochi K, Al Mutairi F, Saadi NW, Whalen S, Brunet T, Kotzaeridou U, Choukair D, Keren B, Nava C, Kato M, Arai H, Froukh T, Faqeih EA, AlAsmari AM, Saleh MM, Pinto E Vairo F, Pichurin PN, Klee EW, Schmitz CT, Grochowski CM, Mitani T, Herman I, Calame DG, Fatih JM, Du H, Coban-Akdemir Z, Pehlivan D, Jhangiani SN, Gibbs RA, Miyatake S, Matsumoto N, Wagstaff LJ, Posey JE, Lupski JR, Meijer D, Wagner M. Marafi D, et al. Among authors: calame dg. Am J Hum Genet. 2022 Sep 1;109(9):1713-1723. doi: 10.1016/j.ajhg.2022.07.006. Epub 2022 Aug 9. Am J Hum Genet. 2022. PMID: 35948005 Free PMC article.
Biallelic missense variants in COG3 cause a congenital disorder of glycosylation with impairment of retrograde vesicular trafficking.
Duan R, Marafi D, Xia ZJ, Ng BG, Maroofian R, Sumya FT, Saad AK, Du H, Fatih JM, Hunter JV, Elbendary HM, Baig SM, Abdullah U, Ali Z, Efthymiou S, Murphy D, Mitani T, Withers MA, Jhangiani SN, Coban-Akdemir Z, Calame DG, Pehlivan D, Gibbs RA, Posey JE, Houlden H, Lupashin VV, Zaki MS, Freeze HH, Lupski JR. Duan R, et al. Among authors: calame dg. J Inherit Metab Dis. 2023 Nov;46(6):1195-1205. doi: 10.1002/jimd.12679. Epub 2023 Oct 5. J Inherit Metab Dis. 2023. PMID: 37711075 Free PMC article.
Biallelic variants in HECT E3 paralogs, HECTD4 and UBE3C, encoding ubiquitin ligases cause neurodevelopmental disorders that overlap with Angelman syndrome.
Faqeih EA, Alghamdi MA, Almahroos MA, Alharby E, Almuntashri M, Alshangiti AM, Clément P, Calame DG, Qebibo L, Burglen L, Doco-Fenzy M, Mastrangelo M, Torella A, Manti F, Nigro V, Alban Z, Alharbi GS, Hashmi JA, Alraddadi R, Alamri R, Mitani T, Magalie B, Coban-Akdemir Z, Geckinli BB, Pehlivan D, Romito A, Karageorgou V, Martini J, Colin E, Bonneau D, Bertoli-Avella A, Lupski JR, Pastore A, Peake RWA, Dallol A, Alfadhel M, Almontashiri NAM. Faqeih EA, et al. Among authors: calame dg. Genet Med. 2023 Feb;25(2):100323. doi: 10.1016/j.gim.2022.10.006. Epub 2022 Nov 19. Genet Med. 2023. PMID: 36401616 Free article.
78 results