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674 results

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Page 1
Biallelic variants in NSUN6 cause an autosomal recessive neurodevelopmental disorder.
Mattioli F, Worpenberg L, Li CT, Ibrahim N, Naz S, Sharif S, Firouzabadi SG, Vosoogh S, Saraeva-Lamri R, Raymond L, Trujillo C, Guex N, Antonarakis SE, Ansar M, Darvish H, Liu RJ, Roignant JY, Reymond A. Mattioli F, et al. Among authors: antonarakis se. Genet Med. 2023 Sep;25(9):100900. doi: 10.1016/j.gim.2023.100900. Epub 2023 May 21. Genet Med. 2023. PMID: 37226891 Free article.
The genetic cause of neurodevelopmental disorders in 30 consanguineous families.
Paracha SA, Nawaz S, Tahir Sarwar M, Shaheen A, Zaman G, Ahmed J, Shah F, Khwaja S, Jan A, Khan N, Kamal MA, Alam Q, Abbas S, Farman S, Waqas A, Alkathiri A, Hamadi A, Santoni F, Ullah N, Khalid B, Antonarakis SE, Fakhro KA, Umair M, Ansar M. Paracha SA, et al. Among authors: antonarakis se. Front Med (Lausanne). 2024 Aug 30;11:1424753. doi: 10.3389/fmed.2024.1424753. eCollection 2024. Front Med (Lausanne). 2024. PMID: 39281811 Free PMC article.
ELFN1 deficiency: The mechanistic basis and phenotypic spectrum of a neurodevelopmental disorder with epilepsy.
Dore R, Chang CT, Declève A, Brunori G, Ludlam WG, Huang A, Movahedinia M, Damseh NS, Anwar I, Vahidi Mehrjardi MY, Ny A, Khorrami M, Kheirollahi M, Frederiksen H, Eghbal F, Mirjalili MR, Dehghani M, Karimiani EG, Oreshkov S, Alves C, Striano P, Suri M, Martinez-Agosto J, Ansar M, Zahid M, Akram S, Ansar M, Nelson SF; Undiagnosed Diseases Network; Antonarakis SE, Houlden H, Copmans D, Martemyanov KA, Maroofian R. Dore R, et al. Among authors: antonarakis se. Genet Med. 2025 Sep;27(9):101506. doi: 10.1016/j.gim.2025.101506. Epub 2025 Jun 23. Genet Med. 2025. PMID: 40576023 Free PMC article.
Early-Onset Retinopathy in Patients With Variants in SLC6A6 Leading to Impaired Taurine Transport.
Ullah M, Rehman AU, Shetty M, Allen MD, Ullah E, Signorini SG, des Roziers CB, Grijalva RM, Rashid A, Munir A, Porretta AP, Valente EM, Agather AR, Dimopoulos I, Hufnagel RB, Malandain E, Coursimault J, Ansar M, Antonarakis SE, Superti-Furga A, Jan S, Brooks BP, Calzetti G, Guan B, Quinodoz M, Henry LK, Rivolta C. Ullah M, et al. Among authors: antonarakis se. JAMA Ophthalmol. 2026 Jan 1;144(1):70-78. doi: 10.1001/jamaophthalmol.2025.4875. JAMA Ophthalmol. 2026. PMID: 41343195 Free PMC article.
Heterozygous de novo variants in HSPD1 cause hypomyelinating leukodystrophy through impaired HSP60 oligomerisation.
Eskin-Schwartz M, Seraidy S, Paz E, Molhem M, Ranza E, Antonarakis SE, Blanc X, Herman K, Benko WS, Libzon S, Ben Sira L, Fattal-Valevski A, Dolgin V, Birk OS, Kessel A, Bross P, Weiss C, Azem A, Zerem A. Eskin-Schwartz M, et al. Among authors: antonarakis se. J Med Genet. 2024 Dec 31;62(1):15-24. doi: 10.1136/jmg-2024-109862. J Med Genet. 2024. PMID: 39500555
Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability.
Sabeh P, Dumas SA, Maios C, Daghar H, Korzeniowski M, Rousseau J, Lines M, Guerin A, Millichap JJ, Landsverk M, Grebe T, Lindstrom K, Strober J, Ait Mouhoub T, Zweier C, Steinraths M, Hebebrand M, Callewaert B, Abou Jamra R, Kautza-Lucht M, Wegler M, Kruszka P, Kumps C, Banne E, Waberski MB, Dieux A, Raible S, Krantz I, Medne L, Pechter K, Villard L, Guerrini R, Bianchini C, Barba C, Mei D, Blanc X, Kallay C, Ranza E, Yang XR, O'Heir E, Donald KA, Murugasen S, Bruwer Z, Calikoglu M, Mathews JM, Lesieur-Sebellin M, Baujat G, Derive N, Pierson TM, Murrell JR, Shillington A, Ormieres C, Rondeau S, Reis A, Fernandez-Jaen A, Au PYB, Sweetser DA, Briere LC, Couque N, Perrin L, Schymick J, Gueguen P, Lefebvre M, Van Andel M, Juusola J, Antonarakis SE, Parker JA, Burnett BG, Campeau PM. Sabeh P, et al. Among authors: antonarakis se. Am J Hum Genet. 2025 Jan 2;112(1):75-86. doi: 10.1016/j.ajhg.2024.11.009. Epub 2024 Dec 24. Am J Hum Genet. 2025. PMID: 39721588 Free PMC article.
A cardiovascular, craniofacial, and neurodevelopmental disorder caused by loss-of-function variants in the eIF3 complex component genes EIF3A and EIF3B.
Erkut E, Somerville C, Schwartz MLB, McDonald L, Ding Q, Moran OM, Chen X, Manshaei R, Riedijk AS, Schnürer MT, Koboldt DC, Antonarakis SE, Bedoukian EC, Blanc X, Conlin LK, Cox H, Diderich KEM, Dingmann B, Dubourg C, Elmslie F, Escobar LF, Gosselin R, Guillen Sacoto MJ, Haag CD, Herzig L, Jeeneea R, Kenia P, Kolokotronis K, Kopps AM, Kupper C, Lees H, Leonard J, Levy J, Littlejohn R, Mayer D, McLean SD, Pattani N, Perrin L, Pingault V, Quelin C, Ranza E, Rauch A, Reichert SL, Rosmaninho-Salgado J, Skraban C, Sousa S, Stuebben M, Zanoni P, Kim RH, Scott IC, Jobling RK. Erkut E, et al. Among authors: antonarakis se. Am J Hum Genet. 2025 Nov 6;112(11):2625-2642. doi: 10.1016/j.ajhg.2025.09.008. Epub 2025 Sep 30. Am J Hum Genet. 2025. PMID: 41033306 Free PMC article.
Functional signatures of de novo GABBR1 and GABBR2 variants associated with neurodevelopmental disorders.
Stawarski M, Bielopolski N, Roitman I, Fridman K, Wald-Altman S, Eitel M, Hui B, Vulto-van Silfhout A, Stegmann APA, Chirita-Emandi A, Eason J, Bradshaw K, Darnell L, Kostrzewa G, Ploski R, Meurs R, Batté A, Antonarakis SE, Gassmann M, Bettler B. Stawarski M, et al. Among authors: antonarakis se. NPJ Genom Med. 2026 Mar 9;11(1):23. doi: 10.1038/s41525-026-00558-z. NPJ Genom Med. 2026. PMID: 41803176 Free PMC article.
674 results