Genetics in Medicine
Journal Abbreviation: GENET MED
ISSN: 1098-3600
Publisher: Nature Publishing Group: Open Access Hybrid Model Option B
Publications (43)
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
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
Broad consent for health care-embedded biobanking: Understanding and reasons to donate in a large patient sample (2018)
Richter G, Krawczak M, Lieb W, Wolff L, Schreiber S, Buyx A
Journal article
Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care (2018)
Ivanovski I, Djuric O, Caraffi SG, Santodirocco D, Pollazzon M, Rosato S, Cordelli DM, et al.
Journal article
Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants (2018)
Johnston JJ, Van Der Smagt JJ, Rosenfeld JA, Pagnamenta AT, Alswaid A, Baker EH, Blair E, et al.
Journal article
Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature (2018)
Hauer N, Popp B, Schoeller E, Schuhmann S, Heath KE, Hisado-Oliva A, Klinger P, et al.
Journal article