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2009 2
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2020 16
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2025 12

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72 results

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Page 1
The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis.
Weiss K, Lazar HP, Kurolap A, Martinez AF, Paperna T, Cohen L, Smeland MF, Whalen S, Heide S, Keren B, Terhal P, Irving M, Takaku M, Roberts JD, Petrovich RM, Schrier Vergano SA, Kenney A, Hove H, DeChene E, Quinonez SC, Colin E, Ziegler A, Rumple M, Jain M, Monteil D, Roeder ER, Nugent K, van Haeringen A, Gambello M, Santani A, Medne L, Krock B, Skraban CM, Zackai EH, Dubbs HA, Smol T, Ghoumid J, Parker MJ, Wright M, Turnpenny P, Clayton-Smith J, Metcalfe K, Kurumizaka H, Gelb BD, Baris Feldman H, Campeau PM, Muenke M, Wade PA, Lachlan K. Weiss K, et al. Among authors: ghoumid j. Genet Med. 2020 Feb;22(2):389-397. doi: 10.1038/s41436-019-0612-0. Epub 2019 Aug 7. Genet Med. 2020. PMID: 31388190 Free PMC article.
Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia.
Ebrahimi-Fakhari D, Teinert J, Behne R, Wimmer M, D'Amore A, Eberhardt K, Brechmann B, Ziegler M, Jensen DM, Nagabhyrava P, Geisel G, Carmody E, Shamshad U, Dies KA, Yuskaitis CJ, Salussolia CL, Ebrahimi-Fakhari D, Pearson TS, Saffari A, Ziegler A, Kölker S, Volkmann J, Wiesener A, Bearden DR, Lakhani S, Segal D, Udwadia-Hegde A, Martinuzzi A, Hirst J, Perlman S, Takiyama Y, Xiromerisiou G, Vill K, Walker WO, Shukla A, Dubey Gupta R, Dahl N, Aksoy A, Verhelst H, Delgado MR, Kremlikova Pourova R, Sadek AA, Elkhateeb NM, Blumkin L, Brea-Fernández AJ, Dacruz-Álvarez D, Smol T, Ghoumid J, Miguel D, Heine C, Schlump JU, Langen H, Baets J, Bulk S, Darvish H, Bakhtiari S, Kruer MC, Lim-Melia E, Aydinli N, Alanay Y, El-Rashidy O, Nampoothiri S, Patel C, Beetz C, Bauer P, Yoon G, Guillot M, Miller SP, Bourinaris T, Houlden H, Robelin L, Anheim M, Alamri AS, Mahmoud AAH, Inaloo S, Habibzadeh P, Faghihi MA, Jansen AC, Brock S, Roubertie A, Darras BT, Agrawal PB, Santorelli FM, Gleeson J, Zaki MS, Sheikh SI, Bennett JT, Sahin M. Ebrahimi-Fakhari D, et al. Among authors: ghoumid j. Brain. 2020 Oct 1;143(10):2929-2944. doi: 10.1093/brain/awz307. Brain. 2020. PMID: 32979048 Free PMC article.
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.
Nava C, Cogne B, Santini A, Leitão E, Lecoquierre F, Chen Y, Stenton SL, Besnard T, Heide S, Baer S, Jakhar A, Neuser S, Keren B, Faudet A, Forlani S, Faoucher M, Uguen K, Platzer K, Afenjar A, Alessandri JL, Andres S, Angelini C, Aral B, Arveiler B, Attie-Bitach T, Aubert Mucca M, Banneau G, Barakat TS, Barcia G, Baulac S, Beneteau C, Benkerdou F, Bernard V, Bézieau S, Bonneau D, Bonnet-Dupeyron MN, Boussion S, Boute O, Brischoux-Boucher E, Bryen SJ, Buratti J, Busa T, Caliebe A, Capri Y, Cassinari K, Caumes R, Cenni C, Chambon P, Charles P, Christodoulou J, Colson C, Conrad S, Cospain A, Coursimault J, Courtin T, Couse M, Coutton C, Creveaux I, D'Gama AM, Dauriat B, de Sainte Agathe JM, Del Gobbo G, Delahaye-Duriez A, Delanne J, Denommé-Pichon AS, Dieux-Coeslier A, Do Souto Ferreira L, Doco-Fenzy M, Drukewitz S, Duboc V, Dubourg C, Duffourd Y, Dyment D, El Chehadeh S, Elmaleh M, Faivre L, Fennelly S, Fischer H, Fradin M, Galludec Vaillant C, Ganne B, Ghoumid J, Goel H, Gokce-Samar Z, Goldenberg A, Gonfreville Robert R, Gorokhova S, Goujon L, Granier V, Gras M, Greally JM, Greiten B, Gueguen P, Guerrot AM, Guha S, Guimier A, Haack TB, Hadj Abdallah H, Halleb Y, Harbuz R, H… See abstract for full author list ➔ Nava C, et al. Among authors: ghoumid j. Nat Genet. 2025 Jun;57(6):1374-1388. doi: 10.1038/s41588-025-02184-4. Epub 2025 May 16. Nat Genet. 2025. PMID: 40379786 Free PMC article.
Phenotypic spectrum of SHANK2-related neurodevelopmental disorder.
Caumes R, Smol T, Thuillier C, Balerdi M, Lestienne-Roche C, Manouvrier-Hanu S, Ghoumid J. Caumes R, et al. Among authors: ghoumid j. Eur J Med Genet. 2020 Dec;63(12):104072. doi: 10.1016/j.ejmg.2020.104072. Epub 2020 Sep 25. Eur J Med Genet. 2020. PMID: 32987185 Review.
Discovery of a DNA methylation profile in individuals with Sifrim-Hitz-Weiss syndrome.
Karimi K, Lichtenstein Y, Reilly J, McConkey H, Relator R, Levy MA, Kerkhof J, Bouman A, Symonds JD, Ghoumid J, Smol T, Clarkson K, Drazba K, Louie RJ, Miranda V, McCann C, Motta J, Lancaster E, Sallevelt S, Sidlow R, Morrison J, Hannibal M, O'Shea J, Marin V, Prasad C, Patel C, Raskin S, Maria-Noelia SM, Diaz de Bustamante A, Marom D, Barkan T, Keren B, Poirsier C, Cohen L, Colin E, Gorman K, Gallant E, Menke LA, Valenzuela Palafoll I, Hauser N, Wentzensen IM, Rankin J, Turnpenny PD, Campeau PM, Balci TB, Tedder ML, Sadikovic B, Weiss K. Karimi K, et al. Among authors: ghoumid j. Am J Hum Genet. 2025 Feb 6;112(2):414-427. doi: 10.1016/j.ajhg.2024.12.020. Epub 2025 Jan 16. Am J Hum Genet. 2025. PMID: 39824190 Free PMC article.
The Phenotypic and Genotypic Spectrum of BRPF1-Related Disorder: 29 New Patients and Literature Review.
Colson C, Tessarech M, Boucher-Brischoux E, Boute-Benejean O, Vincent-Delorme C, Vanlerberghe C, Boussion S, Cunff JL, Duban-Bedu B, Faivre L, Thauvin C, Philippe C, Bruel AL, Tran Mau-Them F, Houdayer C, Lesca G, Putoux A, Lévy J, Patat O, Rio M, Ghoumid J, Smol T. Colson C, et al. Among authors: ghoumid j. Clin Genet. 2025 May;107(5):527-540. doi: 10.1111/cge.14688. Epub 2024 Dec 29. Clin Genet. 2025. PMID: 39837771 Free PMC article. Review.
Neurodevelopmental phenotype associated with CHD8-SUPT16H duplication.
Smol T, Thuillier C, Boudry-Labis E, Dieux-Coeslier A, Duban-Bedu B, Caumes R, Bouquillon S, Manouvrier-Hanu S, Roche-Lestienne C, Ghoumid J. Smol T, et al. Among authors: ghoumid j. Neurogenetics. 2020 Jan;21(1):67-72. doi: 10.1007/s10048-019-00599-w. Epub 2019 Dec 10. Neurogenetics. 2020. PMID: 31823155
72 results