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Page 1
De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability.
Schalk A, Cousin MA, Dsouza NR, Challman TD, Wain KE, Powis Z, Minks K, Trimouille A, Lasseaux E, Lacombe D, Angelini C, Michaud V, Van-Gils J, Spataro N, Ruiz A, Gabau E, Stolerman E, Washington C, Louie R, Lanpher BC, Kemppainen JL, Innes M, Kooy F, Meuwissen M, Goldenberg A, Lecoquierre F, Vera G, Diderich KEM, Sheidley B, El Achkar CM, Park M, Hamdan FF, Michaud JL, Lewis AJ, Zweier C, Reis A, Wagner M, Weigand H, Journel H, Keren B, Passemard S, Mignot C, van Gassen K, Brilstra EH, Itzikowitz G, O'Heir E, Allen J, Donald KA, Korf BR, Skelton T, Thompson M, Robin NH, Rudy NL, Dobyns WB, Foss K, Zarate YA, Bosanko KA, Alembik Y, Durand B, Tran Mau-Them F, Ranza E, Blanc X, Antonarakis SE, McWalter K, Torti E, Millan F, Dameron A, Tokita M, Zimmermann MT, Klee EW, Piton A, Gerard B. Schalk A, et al. Among authors: diderich kem. J Med Genet. 2022 Oct;59(10):965-975. doi: 10.1136/jmedgenet-2021-107751. Epub 2021 Dec 15. J Med Genet. 2022. PMID: 34930816 Free PMC article.
TRIDENT-2: National Implementation of Genome-wide Non-invasive Prenatal Testing as a First-Tier Screening Test in the Netherlands.
van der Meij KRM, Sistermans EA, Macville MVE, Stevens SJC, Bax CJ, Bekker MN, Bilardo CM, Boon EMJ, Boter M, Diderich KEM, de Die-Smulders CEM, Duin LK, Faas BHW, Feenstra I, Haak MC, Hoffer MJV, den Hollander NS, Hollink IHIM, Jehee FS, Knapen MFCM, Kooper AJA, van Langen IM, Lichtenbelt KD, Linskens IH, van Maarle MC, Oepkes D, Pieters MJ, Schuring-Blom GH, Sikkel E, Sikkema-Raddatz B, Smeets DFCM, Srebniak MI, Suijkerbuijk RF, Tan-Sindhunata GM, van der Ven AJEM, van Zelderen-Bhola SL, Henneman L, Galjaard RH, Van Opstal D, Weiss MM; Dutch NIPT Consortium. van der Meij KRM, et al. Among authors: diderich kem. Am J Hum Genet. 2019 Dec 5;105(6):1091-1101. doi: 10.1016/j.ajhg.2019.10.005. Epub 2019 Nov 7. Am J Hum Genet. 2019. PMID: 31708118 Free PMC article.
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.
Radio FC, Pang K, Ciolfi A, Levy MA, Hernández-García A, Pedace L, Pantaleoni F, Liu Z, de Boer E, Jackson A, Bruselles A, McConkey H, Stellacci E, Lo Cicero S, Motta M, Carrozzo R, Dentici ML, McWalter K, Desai M, Monaghan KG, Telegrafi A, Philippe C, Vitobello A, Au M, Grand K, Sanchez-Lara PA, Baez J, Lindstrom K, Kulch P, Sebastian J, Madan-Khetarpal S, Roadhouse C, MacKenzie JJ, Monteleone B, Saunders CJ, Jean Cuevas JK, Cross L, Zhou D, Hartley T, Sawyer SL, Monteiro FP, Secches TV, Kok F, Schultz-Rogers LE, Macke EL, Morava E, Klee EW, Kemppainen J, Iascone M, Selicorni A, Tenconi R, Amor DJ, Pais L, Gallacher L, Turnpenny PD, Stals K, Ellard S, Cabet S, Lesca G, Pascal J, Steindl K, Ravid S, Weiss K, Castle AMR, Carter MT, Kalsner L, de Vries BBA, van Bon BW, Wevers MR, Pfundt R, Stegmann APA, Kerr B, Kingston HM, Chandler KE, Sheehan W, Elias AF, Shinde DN, Towne MC, Robin NH, Goodloe D, Vanderver A, Sherbini O, Bluske K, Hagelstrom RT, Zanus C, Faletra F, Musante L, Kurtz-Nelson EC, Earl RK, Anderlid BM, Morin G, van Slegtenhorst M, Diderich KEM, Brooks AS, Gribnau J, Boers RG, Finestra TR, Carter LB, Rauch A, Gasparini P, Boycott KM, Barakat TS, Graham JM Jr, Fai… See abstract for full author list ➔ Radio FC, et al. Among authors: diderich kem. Am J Hum Genet. 2021 Mar 4;108(3):502-516. doi: 10.1016/j.ajhg.2021.01.015. Epub 2021 Feb 16. Am J Hum Genet. 2021. PMID: 33596411 Free PMC article.
Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.
Grozeva D, Carss K, Spasic-Boskovic O, Tejada MI, Gecz J, Shaw M, Corbett M, Haan E, Thompson E, Friend K, Hussain Z, Hackett A, Field M, Renieri A, Stevenson R, Schwartz C, Floyd JA, Bentham J, Cosgrove C, Keavney B, Bhattacharya S; Italian X-linked Mental Retardation Project; UK10K Consortium; GOLD Consortium; Hurles M, Raymond FL. Grozeva D, et al. Hum Mutat. 2015 Dec;36(12):1197-204. doi: 10.1002/humu.22901. Epub 2015 Sep 30. Hum Mutat. 2015. PMID: 26350204 Free PMC article.
Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing: Follow-up results of the TRIDENT-2 study.
van Prooyen Schuurman L, Sistermans EA, Van Opstal D, Henneman L, Bekker MN, Bax CJ, Pieters MJ, Bouman K, de Munnik S, den Hollander NS, Diderich KEM, Faas BHW, Feenstra I, Go ATJI, Hoffer MJV, Joosten M, Komdeur FL, Lichtenbelt KD, Lombardi MP, Polak MG, Jehee FS, Schuring-Blom H, Stevens SJC, Srebniak MI, Suijkerbuijk RF, Tan-Sindhunata GM, van der Meij KRM, van Maarle MC, Vernimmen V, van Zelderen-Bhola SL, van Ravesteyn NT, Knapen MFCM, Macville MVE, Galjaard RH; Dutch NIPT consortium. van Prooyen Schuurman L, et al. Among authors: diderich kem. Am J Hum Genet. 2022 Jun 2;109(6):1140-1152. doi: 10.1016/j.ajhg.2022.04.018. Am J Hum Genet. 2022. PMID: 35659929 Free PMC article.
The incremental yield of prenatal exome sequencing over chromosome microarray for congenital heart abnormalities: A systematic review and meta-analysis.
Reilly K, Sonner S, McCay N, Rolnik DL, Casey F, Seale AN, Watson CJ, Kan A, Lai THT, Chung BHY, Diderich KEM, Srebniak MI, Dempsey E, Drury S, Giordano J, Wapner R, Kilby MD, Chitty LS, Mone F. Reilly K, et al. Among authors: diderich kem. Prenat Diagn. 2024 Jun;44(6-7):821-831. doi: 10.1002/pd.6581. Epub 2024 May 6. Prenat Diagn. 2024. PMID: 38708840
Stankiewicz-Isidor syndrome: expanding the clinical and molecular phenotype.
Isidor B, Ebstein F, Hurst A, Vincent M, Bader I, Rudy NL, Cogne B, Mayr J, Brehm A, Bupp C, Warren K, Bacino CA, Gerard A, Ranells JD, Metcalfe KA, van Bever Y, Jiang YH, Mendelssohn BA, Cope H, Rosenfeld JA, Blackburn PR, Goodenberger ML, Kearney HM, Kennedy J, Scurr I, Szczaluba K, Ploski R, de Saint Martin A, Alembik Y, Piton A, Bruel AL, Thauvin-Robinet C, Strong A, Diderich KEM, Bourgeois D, Dahan K, Vignard V, Bonneau D, Colin E, Barth M, Camby C, Baujat G, Briceño I, Gómez A, Deb W, Conrad S, Besnard T, Bézieau S, Krüger E, Küry S, Stankiewicz P. Isidor B, et al. Among authors: diderich kem. Genet Med. 2022 Jan;24(1):179-191. doi: 10.1016/j.gim.2021.09.005. Epub 2021 Nov 30. Genet Med. 2022. PMID: 34906456 Free article.
Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.
van der Sluijs PJ, Joosten M, Alby C, Attié-Bitach T, Gilmore K, Dubourg C, Fradin M, Wang T, Kurtz-Nelson EC, Ahlers KP, Arts P, Barnett CP, Ashfaq M, Baban A, van den Born M, Borrie S, Busa T, Byrne A, Carriero M, Cesario C, Chong K, Cueto-González AM, Dempsey JC, Diderich KEM, Doherty D, Farholt S, Gerkes EH, Gorokhova S, Govaerts LCP, Gregersen PA, Hickey SE, Lefebvre M, Mari F, Martinovic J, Northrup H, O'Leary M, Parbhoo K, Patrier S, Popp B, Santos-Simarro F, Stoltenburg C, Thauvin-Robinet C, Thompson E, Vulto-van Silfhout AT, Zahir FR, Scott HS, Earl RK, Eichler EE, Vora NL, Wilnai Y, Giordano JL, Wapner RJ, Rosenfeld JA, Haak MC, Santen GWE. van der Sluijs PJ, et al. Among authors: diderich kem. Genet Med. 2023 Feb;25(2):100004. doi: 10.1016/j.gim.2022.100004. Genet Med. 2023. PMID: 36745127 Free PMC article. No abstract available.
56 results