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203 results

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Page 1
Pathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrum.
Verbinnen I, Douzgou Houge S, Hsieh TC, Lesmann H, Kirchhoff A, Geneviève D, Brimble E, Lenaerts L, Haesen D, Levy RJ, Thevenon J, Faivre L, Marco E, Chong JX, Bamshad M, Patterson K, Mirzaa GM, Foss K, Dobyns W, White SM, Pais L, O'Heir E, Itzikowitz R, Donald KA, Van der Merwe C, Mussa A, Cervini R, Giorgio E, Roscioli T, Dias KR, Evans CA, Brown NJ, Ruiz A, Trujillo Quintero JP, Rabin R, Pappas J, Yuan H, Lachlan K, Thomas S, Devlin A, Wright M, Martin R, Karwowska J, Posmyk R, Chatron N, Stark Z, Heath O, Delatycki M, Buchert R, Korenke GC, Ramsey K, Narayanan V, Grange DK, Weisenberg JL, Haack TB, Karch S, Kipkemoi P, Mangi M, Bindels de Heus KGCB, de Wit MY, Barakat TS, Lim D, Van Winckel G, Spillmann RC, Shashi V, Jacob M, Stehr AM; Undiagnosed Diseases Network; Krawitz P, Douzgos Houge G, Janssens V. Verbinnen I, et al. Among authors: van der merwe c. Am J Hum Genet. 2025 Mar 6;112(3):554-571. doi: 10.1016/j.ajhg.2025.01.021. Epub 2025 Feb 19. Am J Hum Genet. 2025. PMID: 39978342
Phenotype and genetic analysis of data collected within the first year of NeuroDev.
Kipkemoi P, Kim HA, Christ B, O'Heir E, Allen J, Austin-Tse C, Baxter S, Brand H, Bryant S, Buser N, de Menil V, Eastman E, Murugasen S, Galvin A, Kombe M, Ngombo A, Mkubwa B, Mwangi P, Kipkoech C, Lovgren A, MacArthur DG, Melly B, Mwangasha K, Martin A, Nkambule LL, Sanchis-Juan A, Singer-Berk M, Talkowski ME, VanNoy G, van der Merwe C; NeuroDev Project; Newton C, O'Donnell-Luria A, Abubakar A, Donald KA, Robinson EB. Kipkemoi P, et al. Among authors: van der merwe c. Neuron. 2023 Sep 20;111(18):2800-2810.e5. doi: 10.1016/j.neuron.2023.06.010. Epub 2023 Jul 17. Neuron. 2023. PMID: 37463579 Free article.
Genetic contributions to autism spectrum disorder.
Havdahl A, Niarchou M, Starnawska A, Uddin M, van der Merwe C, Warrier V. Havdahl A, et al. Among authors: van der merwe c. Psychol Med. 2021 Oct;51(13):2260-2273. doi: 10.1017/S0033291721000192. Epub 2021 Feb 26. Psychol Med. 2021. PMID: 33634770 Free PMC article. Review.
Statistical and functional convergence of common and rare genetic influences on autism at chromosome 16p.
Weiner DJ, Ling E, Erdin S, Tai DJC, Yadav R, Grove J, Fu JM, Nadig A, Carey CE, Baya N, Bybjerg-Grauholm J; iPSYCH Consortium; ASD Working Group of the Psychiatric Genomics Consortium; ADHD Working Group of the Psychiatric Genomics Consortium; Berretta S, Macosko EZ, Sebat J, O'Connor LJ, Hougaard DM, Børglum AD, Talkowski ME, McCarroll SA, Robinson EB. Weiner DJ, et al. Nat Genet. 2022 Nov;54(11):1630-1639. doi: 10.1038/s41588-022-01203-y. Epub 2022 Oct 24. Nat Genet. 2022. PMID: 36280734 Free PMC article.
The female protective effect against autism spectrum disorder.
Wigdor EM, Weiner DJ, Grove J, Fu JM, Thompson WK, Carey CE, Baya N, van der Merwe C, Walters RK, Satterstrom FK, Palmer DS, Rosengren A, Bybjerg-Grauholm J; iPSYCH Consortium; Hougaard DM, Mortensen PB, Daly MJ, Talkowski ME, Sanders SJ, Bishop SL, Børglum AD, Robinson EB. Wigdor EM, et al. Among authors: van der merwe c. Cell Genom. 2022 Jun 8;2(6):100134. doi: 10.1016/j.xgen.2022.100134. eCollection 2022 Jun 8. Cell Genom. 2022. PMID: 36778135 Free PMC article.
The Hidden Epidemic of Isoniazid-Resistant Tuberculosis in South Africa.
Klopper M, van der Merwe CJ, van der Heijden YF, Folkerts M, Loubser J, Streicher EM, Mekler K, Hayes C, Engelthaler DM, Metcalfe JZ, Warren RM. Klopper M, et al. Among authors: van der merwe cj. Ann Am Thorac Soc. 2024 Oct;21(10):1391-1397. doi: 10.1513/AnnalsATS.202312-1076OC. Ann Am Thorac Soc. 2024. PMID: 38935769
Integrating molecular and radiological screening tools during community-based active case-finding for tuberculosis and COVID-19 in southern Africa.
Scott AJ, Limbada M, Perumal T, Jaumdally S, Kotze A, van der Merwe C, Cheeba M, Milimo D, Murphy K, van Ginneken B, de Kock M, Warren RM, Gina P, Swanepoel J, Kühn L, Oelofse S, Pooran A, Esmail A, Ayles H, Dheda K. Scott AJ, et al. Among authors: van der merwe c. Int J Infect Dis. 2024 Aug;145:107081. doi: 10.1016/j.ijid.2024.107081. Epub 2024 May 1. Int J Infect Dis. 2024. PMID: 38701914 Free article.
203 results