Genetics in Medicine
Journal Abbreviation: GENET MED
ISSN: 1098-3600
Publisher: Nature Publishing Group: Open Access Hybrid Model Option B
Publications (37)
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
DLG4-related synaptopathy: a new rare brain disorder (2021)
Rodriguez-Palmero A, Boerrigter MM, Gomez-Andres D, Aldinger KA, Marcos-Alcalde I, Popp B, Everman DB, et al.
Journal article
Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7 (2020)
Castilla-Vallmanya L, Selmer KK, Dimartino C, Rabionet R, Blanco-Sanchez B, Yang S, Reijnders MRF, et al.
Journal article
De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy (2020)
Kloeckner C, Sticht H, Zacher P, Popp B, Babcock HE, Bakker DP, Barwick K, et al.
Journal article
De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females (2020)
Polla DL, Bhoj EJ, Verheij JB, Wassink-Ruiter JS, Reis A, Deshpande C, Gregor A, et al.
Journal article