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Page 1
De novo heterozygous missense variants in CELSR1 as cause of fetal pleural effusions and progressive fetal hydrops.
de Koning MA, Pimienta Ramirez PA, Haak MC, Han X, Ruiterkamp-Versteeg MH, de Leeuw N, Schatz UA, Shoukier M, Rieger-Fackeldey E, Ortiz JU, van Duinen SG, Klein WM, Witlox RSGM, Finnell RH, Santen GWE, Lei Y, Suerink M. de Koning MA, et al. Among authors: de leeuw n. J Med Genet. 2024 May 21;61(6):549-552. doi: 10.1136/jmg-2023-109698. J Med Genet. 2024. PMID: 38272662
Diagnostic yield of patients with undiagnosed intellectual disability, global developmental delay and multiples congenital anomalies using karyotype, microarray analysis, whole exome sequencing from Central Brazil.
Leite AJDC, Pinto IP, Leijsten N, Ruiterkamp-Versteeg M, Pfundt R, de Leeuw N, da Cruz AD, Minasi LB. Leite AJDC, et al. Among authors: de leeuw n. PLoS One. 2022 Apr 7;17(4):e0266493. doi: 10.1371/journal.pone.0266493. eCollection 2022. PLoS One. 2022. PMID: 35390071 Free PMC article.
The performance of genome sequencing as a first-tier test for neurodevelopmental disorders.
van der Sanden BPGH, Schobers G, Corominas Galbany J, Koolen DA, Sinnema M, van Reeuwijk J, Stumpel CTRM, Kleefstra T, de Vries BBA, Ruiterkamp-Versteeg M, Leijsten N, Kwint M, Derks R, Swinkels H, den Ouden A, Pfundt R, Rinne T, de Leeuw N, Stegmann AP, Stevens SJ, van den Wijngaard A, Brunner HG, Yntema HG, Gilissen C, Nelen MR, Vissers LELM. van der Sanden BPGH, et al. Among authors: de vries bba, de leeuw n. Eur J Hum Genet. 2023 Jan;31(1):81-88. doi: 10.1038/s41431-022-01185-9. Epub 2022 Sep 16. Eur J Hum Genet. 2023. PMID: 36114283 Free PMC article.
PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework.
Dingemans AJM, Hinne M, Truijen KMG, Goltstein L, van Reeuwijk J, de Leeuw N, Schuurs-Hoeijmakers J, Pfundt R, Diets IJ, den Hoed J, de Boer E, Coenen-van der Spek J, Jansen S, van Bon BW, Jonis N, Ockeloen CW, Vulto-van Silfhout AT, Kleefstra T, Koolen DA, Campeau PM, Palmer EE, Van Esch H, Lyon GJ, Alkuraya FS, Rauch A, Marom R, Baralle D, van der Sluijs PJ, Santen GWE, Kooy RF, van Gerven MAJ, Vissers LELM, de Vries BBA. Dingemans AJM, et al. Among authors: de vries bba, de leeuw n, de boer e. Nat Genet. 2023 Sep;55(9):1598-1607. doi: 10.1038/s41588-023-01469-w. Epub 2023 Aug 7. Nat Genet. 2023. PMID: 37550531 Free PMC article.
Prevalence of comorbidities in individuals with neurodevelopmental disorders from the aggregated phenomics data of 51,227 pediatric individuals.
Dingemans AJM, Jansen S, van Reeuwijk J, de Leeuw N, Pfundt R, Schuurs-Hoeijmakers J, van Bon BW, Marcelis C, Ockeloen CW, Willemsen M, van der Sluijs PJ, Santen GWE, Kooy RF, Vulto-van Silfhout AT, Kleefstra T, Koolen DA, Vissers LELM, de Vries BBA. Dingemans AJM, et al. Among authors: de vries bba, de leeuw n. Nat Med. 2024 Jul;30(7):1994-2003. doi: 10.1038/s41591-024-03005-7. Epub 2024 May 14. Nat Med. 2024. PMID: 38745008
Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome.
Rots D, Bouman A, Yamada A, Levy M, Dingemans AJM, de Vries BBA, Ruiterkamp-Versteeg M, de Leeuw N, Ockeloen CW, Pfundt R, de Boer E, Kummeling J, van Bon B, van Bokhoven H, Kasri NN, Venselaar H, Alders M, Kerkhof J, McConkey H, Kuechler A, Elffers B, van Beeck Calkoen R, Hofman S, Smith A, Valenzuela MI, Srivastava S, Frazier Z, Maystadt I, Piscopo C, Merla G, Balasubramanian M, Santen GWE, Metcalfe K, Park SM, Pasquier L, Banka S, Donnai D, Weisberg D, Strobl-Wildemann G, Wagemans A, Vreeburg M, Baralle D, Foulds N, Scurr I, Brunetti-Pierri N, van Hagen JM, Bijlsma EK, Hakonen AH, Courage C, Genevieve D, Pinson L, Forzano F, Deshpande C, Kluskens ML, Welling L, Plomp AS, Vanhoutte EK, Kalsner L, Hol JA, Putoux A, Lazier J, Vasudevan P, Ames E, O'Shea J, Lederer D, Fleischer J, O'Connor M, Pauly M, Vasileiou G, Reis A, Kiraly-Borri C, Bouman A, Barnett C, Nezarati M, Borch L, Beunders G, Özcan K, Miot S, Volker-Touw CML, van Gassen KLI, Cappuccio G, Janssens K, Mor N, Shomer I, Dominissini D, Tedder ML, Muir AM, Sadikovic B, Brunner HG, Vissers LELM, Shinkai Y, Kleefstra T. Rots D, et al. Among authors: de leeuw n. Am J Hum Genet. 2024 Aug 8;111(8):1605-1625. doi: 10.1016/j.ajhg.2024.06.008. Epub 2024 Jul 15. Am J Hum Genet. 2024. PMID: 39013458
Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesis.
van Bon BW, Koolen DA, Borgatti R, Magee A, Garcia-Minaur S, Rooms L, Reardon W, Zollino M, Bonaglia MC, De Gregori M, Novara F, Grasso R, Ciccone R, van Duyvenvoorde HA, Aalbers AM, Guerrini R, Fazzi E, Nillesen WM, McCullough S, Kant SG, Marcelis CL, Pfundt R, de Leeuw N, Smeets D, Sistermans EA, Wit JM, Hamel BC, Brunner HG, Kooy F, Zuffardi O, de Vries BB. van Bon BW, et al. Among authors: de gregori m, de leeuw n, de vries bb. J Med Genet. 2008 Jun;45(6):346-54. doi: 10.1136/jmg.2007.055830. Epub 2008 Jan 4. J Med Genet. 2008. PMID: 18178631
376 results