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Page 1
Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder.
Elkhateeb N, Crookes R, Spiller M, Pavinato L, Palermo F, Brusco A, Parker M, Park SM, Mendes AC, Saraiva JM, Hammer TB, Nazaryan-Petersen L, Barakat TS, Wilke M, Bhoj E, Ahrens-Nicklas RC, Li D, Nomakuchi T, Brilstra EH, Hunt D, Johnson D, Mansour S, Oprych K, Mehta SG, Platzer K, Schnabel F, Kiep H, Faust H, Prinzing G, Wiltrout K, Radley JA, Serrano Russi AH, Atallah I, Campos-Xavier B, Amor DJ, Morgan A, Fagerberg C, Andersen UA, Andersen CB, Bijlsma EK, Bird LM, Mullegama SV, Green A, Isidor B, Cogné B, Kenny J, Lynch SA, Quin S, Low K, Herget T, Kortüm F, Levy RJ, Morrison JL, Wheeler PG, Narumanch TC, Peron K, Matthews N, Uhlman J, Bell L, Pang L, Scurr I, Belles RS, Salbert BA, Schaefer GB, Green S, Ros A, Rodríguez-Palmero A, Višnjar T, Writzl K, Vasudevan PC, Balasubramanian M. Elkhateeb N, et al. Genet Med. 2024 Dec 27:101348. doi: 10.1016/j.gim.2024.101348. Online ahead of print. Genet Med. 2024. PMID: 39737487
Implementation of a national rapid prenatal exome sequencing service in England: evaluation of service outcomes and factors associated with regional variation.
Ramakrishnan R, Mallinson C, Hardy S, Broughan J, Blyth M, Melis G, Franklin C, Hill M, Mellis R, Wu WH, Allen S, Chitty LS, Knight M; EXPRESS Clinical Outcomes Group. Ramakrishnan R, et al. Front Genet. 2024 Nov 6;15:1485306. doi: 10.3389/fgene.2024.1485306. eCollection 2024. Front Genet. 2024. PMID: 39568676 Free PMC article.
Classification of variants of reduced penetrance in high-penetrance cancer susceptibility genes: Framework for genetics clinicians and clinical scientists by CanVIG-UK (Cancer Variant Interpretation Group-UK).
Garrett A, Allen S, Durkie M, Burghel GJ, Robinson R, Callaway A, Field J, Frugtniet B, Palmer-Smith S, Grant J, Pagan J, McDevitt T, Rowlands CF, McVeigh T, Hanson H, Turnbull C; CanVIG-UK. Garrett A, et al. Genet Med. 2024 Oct 24;27(2):101305. doi: 10.1016/j.gim.2024.101305. Online ahead of print. Genet Med. 2024. PMID: 39489894 Free article.
Clinical and Genetic Spectrum of Patients With Mitochondrial Disease in a Pediatric Egyptian Cohort: Novel Variants and Phenotypic Expansion.
Hassaan HM, Pyle A, Almenabawy N, Robertson FM, Elkhateeb N, Girgis MY, Mahmoud IGED, Amer F, Samaha M, Shaheen Y, ElNaggar W, Abdoh D, Mehaney DA, Meguid IEA, Taylor RW, McFarland R, Selim L. Hassaan HM, et al. Among authors: elkhateeb n. Am J Med Genet A. 2025 Feb;197(2):e63881. doi: 10.1002/ajmg.a.63881. Epub 2024 Oct 14. Am J Med Genet A. 2025. PMID: 39400921
The PS4-likelihood ratio calculator: flexible allocation of evidence weighting for case-control data in variant classification.
Rowlands CF, Garrett A, Allen S, Durkie M, Burghel GJ, Robinson R, Callaway A, Field J, Frugtniet B, Palmer-Smith S, Grant J, Pagan J, McDevitt T, McVeigh TP, Hanson H, Whiffin N, Jones M, Turnbull C; CanVIG-UK. Rowlands CF, et al. J Med Genet. 2024 Sep 24;61(10):983-991. doi: 10.1136/jmg-2024-110034. J Med Genet. 2024. PMID: 39227160 Free PMC article.
GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases.
Lesmann H, Hustinx A, Moosa S, Klinkhammer H, Marchi E, Caro P, Abdelrazek IM, Pantel JT, Hagen MT, Thong MK, Binti Mazlan RA, Tae SK, Kamphans T, Meiswinkel W, Li JM, Javanmardi B, Knaus A, Uwineza A, Knopp C, Tkemaladze T, Elbracht M, Mattern L, Jamra RA, Velmans C, Strehlow V, Jacob M, Peron A, Dias C, Nunes BC, Vilella T, Pinheiro IF, Kim CA, Melaragno MI, Weiland H, Kaptain S, Chwiałkowska K, Kwasniewski M, Saad R, Wiethoff S, Goel H, Tang C, Hau A, Barakat TS, Panek P, Nabil A, Suh J, Braun F, Gomy I, Averdunk L, Ekure E, Bergant G, Peterlin B, Graziano C, Gaboon N, Fiesco-Roa M, Spinelli AM, Wilpert NM, Phowthongkum P, Güzel N, Haack TB, Bitar R, Tzschach A, Rodriguez-Palmero A, Brunet T, Rudnik-Schöneborn S, Contreras-Capetillo SN, Oberlack A, Samango-Sprouse C, Sadeghin T, Olaya M, Platzer K, Borovikov A, Schnabel F, Heuft L, Herrmann V, Oegema R, Elkhateeb N, Kumar S, Komlosi K, Mohamed K, Kalantari S, Sirchia F, Martinez-Monseny AF, Höller M, Toutouna L, Mohamed A, Lasa-Aranzasti A, Sayer JA, Ehmke N, Danyel M, Sczakiel H, Schwartzmann S, Boschann F, Zhao M, Adam R, Einicke L, Horn D, Chew KS, Kam CC, Karakoyun M, Pode-Shakked B, Eliyahu A, Rock R, Carrion T, Cho… See abstract for full author list ➔ Lesmann H, et al. Among authors: elkhateeb n. Res Sq [Preprint]. 2024 Jun 10:rs.3.rs-4438861. doi: 10.21203/rs.3.rs-4438861/v1. Res Sq. 2024. PMID: 38903062 Free PMC article. Preprint.
The expanding clinical and genetic spectrum of DYNC1H1-related disorders.
Möller B, Becker LL, Saffari A, Afenjar A, Coci EG, Williamson R, Ward-Melver C, Gibaud M, Sedláčková L, Laššuthová P, Libá Z, Vlčková M, William N, Klee EW, Gavrilova RH, Lévy J, Capri Y, Scavina M, Körner RW, Valuvullah Z, Weiß C, Möller GM, Thiel M, Sinnema M, Kamsteeg EJ, Donkervoort S, Duboc V, Zaafrane-Khachnaoui K, Elkhateeb N, Selim L, Margot H, Marin V, Beneteau C, Isidor B, Cogne B, Keren B, Küsters B, Beggs AH, Genetti CA, Nicolai J, Dötsch J, Koy A, Bönnemann CG, von der Hagen M, von Kleist-Retzow JC, Voermans N, Jungbluth H, Dafsari HS. Möller B, et al. Among authors: elkhateeb n. Brain. 2024 Jun 8:awae183. doi: 10.1093/brain/awae183. Online ahead of print. Brain. 2024. PMID: 38848546
37 results