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Plos Genetics|April 18, 2013
Analysis of rare, exonic variation amongst subjects with autism spectrum disorders and population controlsLi Liu, Aniko Sabo, Benjamin M Neale, et al.American Journal of Human Genetics|June 7, 2014
Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformationsJoe Rainger, Davut Pehlivan, Stefan Johansson, et al.American Journal of Human Genetics|October 22, 2019
Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum DisordersTadahiro Mitani, Jaya Punetha, Ibrahim Akalin, et al.Genome Medicine|November 2, 2016
MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile deathMohammad K Eldomery, Zeynep C Akdemir, F-Nora Vögtle, et al.Hypertension (Dallas, Tex. : 1979)|October 4, 2022
Rare Variants in Genes Encoding Subunits of the Epithelial Na<sup>+</sup> Channel Are Associated With Blood Pressure and Kidney FunctionBrandon M Blobner, Annet Kirabo, Ossama B Kashlan, et al.European Journal of Human Genetics : EJHG|May 1, 2018
Comprehensive genomic analysis of patients with disorders of cerebral cortical developmentWojciech Wiszniewski, Pawel Gawlinski, Tomasz Gambin, et al.Nature Communications|June 26, 2015
Lucilia cuprina genome unlocks parasitic fly biology to underpin future interventionsClare A Anstead, Pasi K Korhonen, Neil D Young, et al.JAMA Oncology|April 21, 2022
Association of Pathogenic Variants in Hereditary Cancer Genes With Multiple DiseasesChenjie Zeng, Lisa A Bastarache, Ran Tao, et al.Nature Genetics|May 12, 2009
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathiesHemant Khanna, Erica E Davis, Carlos A Murga-Zamalloa, et al.Hepatology (Baltimore, Md.)|January 22, 2019
Identification of Polycystic Kidney Disease 1 Like 1 Gene Variants in Children With Biliary Atresia Splenic Malformation SyndromeJohn-Paul Berauer, Anya I Mezina, David T Okou, et al.Pageof 117