Genetics in Medicine

Journal Abbreviation: GENET MED
ISSN: 1098-3600
Publisher: Nature Publishing Group: Open Access Hybrid Model Option B

Publications (37)

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Abstract

Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders (2023) Langhammer F, Maroofian R, Badar R, Gregor A, Rochman M, Ratliff JB, Koopmans M, et al. Journal article LHX2 haploinsufficiency causes a variable neurodevelopmental disorder (2023) Schmid CM, Gregor A, Costain G, Morel CF, Massingham L, Schwab J, Quélin C, et al. Journal article OXGR1 is a candidate disease gene for human calcium oxalate nephrolithiasis (2023) Majmundar AJ, Widmeier E, Heneghan JF, Daga A, Wu CHW, Buerger F, Hugo H, et al. Journal article De novo variants in CNOT9 cause a neurodevelopmental disorder with or without epilepsy. (2023) von Wintzingerode L, Ben-Zeev B, Cesario C, Chan KM, Depienne C, Elpeleg O, Iascone M, et al. Journal article De novo variants in the PABP domain of PABPC1 lead to developmental delay (2022) Wegler M, Jia X, Alders M, Bouman A, Chen J, Duan X, Lauzon JL, et al. Journal article Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling (2022) Holtz AM, Vancoil R, Vansickle EA, Carere DA, Withrow K, Torti E, Juusola J, et al. Journal article Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort (2022) van der Sluijs PJ, Joosten M, Alby C, Attié-Bitach T, Gilmore K, Dubourg C, Fradin M, et al. Journal article Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder (2022) Cuinat S, Nizon M, Isidor B, Stegmann A, van Jaarsveld RH, van Gassen KL, van der Smagt JJ, et al. Journal article SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile (2022) Al-Jawahiri R, Foroutan A, Kerkhof J, McConkey H, Levy M, Haghshenas S, Rooney K, et al. Journal article Germline variants in HEY2 functional domains lead to congenital heart defects and thoracic aortic aneurysms. (2022) van Walree ES, Dombrowsky G, Jansen IE, Umićević Mirkov M, Zwart R, Ilgun A, Guo D, et al. Journal article, Erratum
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