Genetics in Medicine
Journal Abbreviation: GENET MED
ISSN: 1098-3600
Publisher: Nature Publishing Group: Open Access Hybrid Model Option B
Publications (41)
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
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
Correction to: Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot (Genetics in Medicine, (2021), 10.1038/s41436-021-01212-y) (2021)
Skoric-Milosavljevic D, Lahrouchi N, Bosada FM, Dombrowsky G, Williams SG, Lesurf R, Tjong FVY, et al.
Journal article, Erratum
Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot (2021)
Škorić-Milosavljević D, Lahrouchi N, Bosada FM, Dombrowsky G, Williams SG, Lesurf R, Tjong FV, et al.
Journal article
Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype (2021)
Zanoni P, Steindl K, Sengupta D, Joset P, Bahr A, Sticht H, Lang-Muritano M, et al.
Journal article
Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities (2021)
Chowdhury F, Wang L, Al-Raqad M, Amor DJ, Baxová A, Bendová Š, Biamino E, et al.
Journal article
Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior (2021)
Harris HK, Nakayama T, Lai J, Zhao B, Argyrou N, Gubbels CS, Soucy A, et al.
Journal article
Correction to: De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy (Genetics in Medicine, (2020), 10.1038/s41436-020-01020-w) (2021)
Klöckner C, Sticht H, Zacher P, Popp B, Babcock HE, Bakker DP, Barwick K, et al.
Journal article, Erratum