Genetics in Medicine
Journal Abbreviation: GENET MED
ISSN: 1098-3600
Publisher: Nature Publishing Group: Open Access Hybrid Model Option B
Publications (37)
New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics (2020)
Begemann A, Sticht H, Begtrup A, Vitobello A, Faivre L, Banka S, Alhaddad B, et al.
Journal article
Germline variants in HEY2 functional domains lead to congenital heart defects and thoracic aortic aneurysms (2020)
van Walree ES, Dombrowsky G, Jansen IE, Mirkov MU, Zwart R, Ilgun A, Guo D, et al.
Journal article
Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly (2019)
Boonsawat P, Joset P, Steindl K, Oneda B, Gogoll L, Azzarello-Burri S, Sheth F, et al.
Journal article
Haploinsufficiency of vascular endothelial growth factor related signaling genes is associated with tetralogy of Fallot (2019)
Reuter MS, Jobling R, Chaturvedi RR, Manshaei R, Costain G, Heung T, Curtis M, et al.
Journal article
De novo CLTC variants are associated with a variable phenotype from mild to severe intellectual disability, microcephaly, hypoplasia of the corpus callosum, and epilepsy (2019)
Nabais Sá MJ, Venselaar H, Wiel L, Trimouille A, Lasseaux E, Naudion S, Lacombe D, et al.
Journal article
De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder (2019)
Mirzaa GM, Chong JX, Piton A, Popp B, Foss K, Guo H, Harripaul R, et al.
Journal article
CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum (2019)
Konrad E, Nardini N, Caliebe A, Nagel I, Young D, Horvath G, Santoro SL, et al.
Journal article
Loss of function of SVBP leads to autosomal recessive intellectual disability, microcephaly, ataxia, and hypotonia (2019)
Iqbal Z, Tawamie H, Ba W, Reis A, Halak BA, Sticht H, Uebe S, et al.
Journal article
PEDIA: prioritization of exome data by image analysis (2019)
Hsieh TC, Mensah MA, Pantel JT, Aguilar D, Bar O, Bayat A, Becerra-Solano L, et al.
Journal article
Mutant RAMP2 causes primary open-angle glaucoma via the CRLR-cAMP axis (2019)
Gong B, Zhang H, Huang L, Chen Y, Shi Y, Tam POS, Zhu X, et al.
Journal article