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Page 1
Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations.
Werren EA, Peirent ER, Jantti H, Guxholli A, Srivastava KR, Orenstein N, Narayanan V, Wiszniewski W, Dawidziuk M, Gawlinski P, Umair M, Khan A, Khan SN, Geneviève D, Lehalle D, van Gassen KLI, Giltay JC, Oegema R, van Jaarsveld RH, Rafiullah R, Rappold GA, Rabin R, Pappas JG, Wheeler MM, Bamshad MJ, Tsan YC, Johnson MB, Keegan CE, Srivastava A, Bielas SL. Werren EA, et al. Among authors: oegema r. Cell Death Dis. 2024 May 30;15(5):379. doi: 10.1038/s41419-024-06768-6. Cell Death Dis. 2024. PMID: 38816421 Free PMC article.
CERT1 mutations perturb human development by disrupting sphingolipid homeostasis.
Gehin C, Lone MA, Lee W, Capolupo L, Ho S, Adeyemi AM, Gerkes EH, Stegmann AP, López-Martín E, Bermejo-Sánchez E, Martínez-Delgado B, Zweier C, Kraus C, Popp B, Strehlow V, Gräfe D, Knerr I, Jones ER, Zamuner S, Abriata LA, Kunnathully V, Moeller BE, Vocat A, Rommelaere S, Bocquete JP, Ruchti E, Limoni G, Van Campenhoudt M, Bourgeat S, Henklein P, Gilissen C, van Bon BW, Pfundt R, Willemsen MH, Schieving JH, Leonardi E, Soli F, Murgia A, Guo H, Zhang Q, Xia K, Fagerberg CR, Beier CP, Larsen MJ, Valenzuela I, Fernández-Álvarez P, Xiong S, Śmigiel R, López-González V, Armengol L, Morleo M, Selicorni A, Torella A, Blyth M, Cooper NS, Wilson V, Oegema R, Herenger Y, Garde A, Bruel AL, Tran Mau-Them F, Maddocks AB, Bain JM, Bhat MA, Costain G, Kannu P, Marwaha A, Champaigne NL, Friez MJ, Richardson EB, Gowda VK, Srinivasan VM, Gupta Y, Lim TY, Sanna-Cherchi S, Lemaitre B, Yamaji T, Hanada K, Burke JE, Jakšić AM, McCabe BD, De Los Rios P, Hornemann T, D'Angelo G, Gennarino VA. Gehin C, et al. Among authors: oegema r. J Clin Invest. 2023 May 15;133(10):e165019. doi: 10.1172/JCI165019. J Clin Invest. 2023. PMID: 36976648 Free PMC article.
GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases.
Lesmann H, Hustinx A, Moosa S, Klinkhammer H, Marchi E, Caro P, Abdelrazek IM, Pantel JT, Hagen MT, Thong MK, Binti Mazlan RA, Tae SK, Kamphans T, Meiswinkel W, Li JM, Javanmardi B, Knaus A, Uwineza A, Knopp C, Tkemaladze T, Elbracht M, Mattern L, Jamra RA, Velmans C, Strehlow V, Jacob M, Peron A, Dias C, Nunes BC, Vilella T, Pinheiro IF, Kim CA, Melaragno MI, Weiland H, Kaptain S, Chwiałkowska K, Kwasniewski M, Saad R, Wiethoff S, Goel H, Tang C, Hau A, Barakat TS, Panek P, Nabil A, Suh J, Braun F, Gomy I, Averdunk L, Ekure E, Bergant G, Peterlin B, Graziano C, Gaboon N, Fiesco-Roa M, Spinelli AM, Wilpert NM, Phowthongkum P, Güzel N, Haack TB, Bitar R, Tzschach A, Rodriguez-Palmero A, Brunet T, Rudnik-Schöneborn S, Contreras-Capetillo SN, Oberlack A, Samango-Sprouse C, Sadeghin T, Olaya M, Platzer K, Borovikov A, Schnabel F, Heuft L, Herrmann V, Oegema R, Elkhateeb N, Kumar S, Komlosi K, Mohamed K, Kalantari S, Sirchia F, Martinez-Monseny AF, Höller M, Toutouna L, Mohamed A, Lasa-Aranzasti A, Sayer JA, Ehmke N, Danyel M, Sczakiel H, Schwartzmann S, Boschann F, Zhao M, Adam R, Einicke L, Horn D, Chew KS, Kam CC, Karakoyun M, Pode-Shakked B, Eliyahu A, Rock R, Carrion T, Cho… See abstract for full author list ➔ Lesmann H, et al. Among authors: oegema r. Res Sq [Preprint]. 2024 Jun 10:rs.3.rs-4438861. doi: 10.21203/rs.3.rs-4438861/v1. Res Sq. 2024. PMID: 38903062 Free PMC article. Preprint.
Rapid exome sequencing as a first-tier test in neonates with suspected genetic disorder: results of a prospective multicenter clinical utility study in the Netherlands.
Olde Keizer RACM, Marouane A, Kerstjens-Frederikse WS, Deden AC, Lichtenbelt KD, Jonckers T, Vervoorn M, Vreeburg M, Henneman L, de Vries LS, Sinke RJ, Pfundt R, Stevens SJC, Andriessen P, van Lingen RA, Nelen M, Scheffer H, Stemkens D, Oosterwijk C, van Amstel HKP, de Boode WP, van Zelst-Stams WAG, Frederix GWJ, Vissers LELM; RADICON-NL consortium. Olde Keizer RACM, et al. Eur J Pediatr. 2023 Jun;182(6):2683-2692. doi: 10.1007/s00431-023-04909-1. Epub 2023 Mar 31. Eur J Pediatr. 2023. PMID: 36997769 Free PMC article.
KBG syndrome associated with periventricular nodular heterotopia.
Oegema R, Schot R, de Wit MCY, Lequin MH, Oostenbrink R, de Coo IFM, Mancini GMS. Oegema R, et al. Clin Dysmorphol. 2010 Jul;19(3):164-165. doi: 10.1097/MCD.0b013e3283387b3b. Clin Dysmorphol. 2010. PMID: 20354438 No abstract available.
COL4A2 mutation associated with familial porencephaly and small-vessel disease.
Verbeek E, Meuwissen ME, Verheijen FW, Govaert PP, Licht DJ, Kuo DS, Poulton CJ, Schot R, Lequin MH, Dudink J, Halley DJ, de Coo RI, den Hollander JC, Oegema R, Gould DB, Mancini GM. Verbeek E, et al. Among authors: oegema r. Eur J Hum Genet. 2012 Aug;20(8):844-51. doi: 10.1038/ejhg.2012.20. Epub 2012 Feb 15. Eur J Hum Genet. 2012. PMID: 22333902 Free PMC article.
RTTN mutations link primary cilia function to organization of the human cerebral cortex.
Kheradmand Kia S, Verbeek E, Engelen E, Schot R, Poot RA, de Coo IF, Lequin MH, Poulton CJ, Pourfarzad F, Grosveld FG, Brehm A, de Wit MC, Oegema R, Dobyns WB, Verheijen FW, Mancini GM. Kheradmand Kia S, et al. Among authors: oegema r. Am J Hum Genet. 2012 Sep 7;91(3):533-40. doi: 10.1016/j.ajhg.2012.07.008. Epub 2012 Aug 30. Am J Hum Genet. 2012. PMID: 22939636 Free PMC article.
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