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Page 1
Microduplications of ARID1A and ARID1B cause a novel clinical and epigenetic distinct BAFopathy.
van der Sluijs PJ, Moutton S, Dingemans AJM, Weis D, Levy MA, Boycott KM, Arberas C, Baldassarri M, Beneteau C, Brusco A, Coutton C, Dabir T, Dentici ML, Devriendt K, Faivre L, van Haelst MM, Jizi K, Kempers MJ, Kerkhof J, Kharbanda M, Lachlan K, Marle N, McConkey H, Mencarelli MA, Mowat D, Niceta M, Nicolas C, Novelli A, Orlando V, Pichon O, Rankin J, Relator R, Ropers FG, Rosenfeld JA, Sachdev R, Sandaradura SA, Shukarova-Angelovska E, Steenbeek D, Tartaglia M, Tedder MA, Trajkova S, Winer N, Woods J, de Vries BBA, Sadikovic B, Alders M, Santen GWE. van der Sluijs PJ, et al. Among authors: devriendt k. Genet Med. 2025 Jan;27(1):101283. doi: 10.1016/j.gim.2024.101283. Epub 2024 Sep 28. Genet Med. 2025. PMID: 39355979 Free article.
Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles.
Haghshenas S, Bout HJ, Schijns JM, Levy MA, Kerkhof J, Bhai P, McConkey H, Jenkins ZA, Williams EM, Halliday BJ, Huisman SA, Lauffer P, de Waard V, Witteveen L, Banka S, Brady AF, Galazzi E, van Gils J, Hurst ACE, Kaiser FJ, Lacombe D, Martinez-Monseny AF, Fergelot P, Monteiro FP, Parenti I, Persani L, Santos-Simarro F, Simpson BN; MKHK Research Consortium; Alders M, Robertson SP, Sadikovic B, Menke LA. Haghshenas S, et al. HGG Adv. 2024 Jul 18;5(3):100287. doi: 10.1016/j.xhgg.2024.100287. Epub 2024 Mar 29. HGG Adv. 2024. PMID: 38553851 Free PMC article.
Phenotype and genotype in Nicolaides-Baraitser syndrome.
Sousa SB, Hennekam RC; Nicolaides-Baraitser Syndrome International Consortium. Sousa SB, et al. Am J Med Genet C Semin Med Genet. 2014 Sep;166C(3):302-14. doi: 10.1002/ajmg.c.31409. Epub 2014 Aug 28. Am J Med Genet C Semin Med Genet. 2014. PMID: 25169058 Review.
First Insights Into the Phenotype and Genotype of Inherited Retinal Disorders in the Democratic Republic of Congo (DRC).
Nsiangani Lusambo N, Fuanani P, Mubungu G, Makay P, Ngole M, Ngweme G, Kajingulu FP, Perry D, Kesari A, Calzetti G, Rivolta C, Devriendt K, Lukusa Tshilobo P, Thorpe E, Taft RJ, Lumaka A. Nsiangani Lusambo N, et al. Among authors: devriendt k. Ann Hum Genet. 2025 Jul;89(4):141-148. doi: 10.1111/ahg.12604. Epub 2025 May 16. Ann Hum Genet. 2025. PMID: 40377368
Persistent Uninterpretable or Failed Prenatal Cell-Free DNA Screening Indicates a High-Risk Pregnancy and is Associated With Biological Factors Interfering With cfDNA-Analysis: A Prospective Cohort Study.
Lannoo L, Van Den Bogaert K, Belmans A, Brison N, Dehaspe L, De Langhe E, Vancoillie L, Parijs I, Vermeesch JR, Devriendt K, Van Calsteren K. Lannoo L, et al. Among authors: devriendt k. Prenat Diagn. 2025 May;45(5):581-590. doi: 10.1002/pd.6778. Epub 2025 Mar 20. Prenat Diagn. 2025. PMID: 40114366
Genetic Modulators of Diversity in the Biological Expression of Sickle Cell Anemia in Patients from Democratic Republic of Congo: Role of βs-globin Haplotypes.
Ngole M, Mbayabo G, Lumbala P, Race V, Mvuama N, Deman S, Souche E, Lukusa PT, Van Geet C, Devriendt K, Matthijs G, Lumaka A, Cleynen I. Ngole M, et al. Among authors: devriendt k. Mediterr J Hematol Infect Dis. 2025 Jan 1;17(1):e2025001. doi: 10.4084/MJHID.2025.001. eCollection 2025. Mediterr J Hematol Infect Dis. 2025. PMID: 39830798 Free PMC article. No abstract available.
606 results