Genetics in Medicine
Journal Abbreviation: GENET MED
ISSN: 1098-3600
Publisher: Nature Publishing Group: Open Access Hybrid Model Option B
Publications (42)
Trio exome sequencing identifies de novo variants in novel candidate genes in 19.62% of CAKUT families (2025)
Merz LM, Kolvenbach CM, Wang C, Mertens ND, Seltzsam S, Mansour B, Zheng B, et al.
Journal article
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
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
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
Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals (2023)
Bosch E, Popp B, Güse E, Skinner C, van der Sluijs PJ, Maystadt I, Pinto AM, 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