Genetics in Medicine

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

Publications (39)

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Quantitative natural history modeling of HPDL-related disease based on cross-sectional data reveals genotype-phenotype correlations (2025) Alecu JE, Tam A, Richter S, Quiroz V, Schierbaum L, Saffari A, Ebrahimi-Fakhari D Journal article Biallelic variants in GTF3C3 result in an autosomal recessive disorder with intellectual disability. (2025) De Hayr L, Blok LE, Dias KR, Long J, Begemann A, Moir RD, Willis IM, et al. Journal article Upregulation versus loss of function of NTRK2 in 44 affected individuals leads to 2 distinct neurodevelopmental disorders (2025) Berger E, Jauss RT, Ranells JD, Zonic E, von Wintzingerode L, Wilson A, Wagner J, et al. Journal article 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 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 Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling (2022) Holtz AM, VanCoillie R, Vansickle EA, Carere DA, Withrow K, Torti E, Juusola J, et al. Journal article
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