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Nature Genetics|February 5, 2013
Loss-of-function mutations in SMARCE1 cause an inherited disorder of multiple spinal meningiomasMiriam J Smith, James O'Sullivan, Sanjeev S Bhaskar, et al.
Diabetic Medicine : a Journal of the British Diabetic Association|September 15, 2011
Analysis of 32 common susceptibility genetic variants and their combined effect in predicting risk of Type 2 diabetes and related traits in IndiansC S Janipalli, M V K Kumar, D G Vinay, et al.
American Journal of Medical Genetics. Part A|March 23, 2017
Homozygous mutation in PTRH2 gene causes progressive sensorineural deafness and peripheral neuropathyRajech Sharkia, Stavit A Shalev, Abdelnaser Zalan, et al.
Clinical Genetics|August 24, 2019
A homozygous missense variant in CHRM3 associated with familial urinary bladder diseaseGlenda M Beaman, Gabriella Galatà, Keng W Teik, et al.
Clinical Genetics|January 13, 2016
DMRTA2 (DMRT5) is mutated in a novel cortical brain malformationJ E Urquhart, G Beaman, H Byers, et al.
American Journal of Human Genetics|July 9, 2011
Exome sequencing identifies CCDC8 mutations in 3-M syndrome, suggesting that CCDC8 contributes in a pathway with CUL7 and OBSL1 to control human growthDan Hanson, Philip G Murray, James O'Sullivan, et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology|November 19, 2014
Germline mutations in SUFU cause Gorlin syndrome-associated childhood medulloblastoma and redefine the risk associated with PTCH1 mutationsMiriam J Smith, Christian Beetz, Simon G Williams, et al.
American Journal of Human Genetics|December 27, 2011
Exome sequence identifies RIPK4 as the Bartsocas-Papas syndrome locusKaren Mitchell, James O'Sullivan, Caterina Missero, et al.
Field Crops Research|June 18, 2021
An impact of agronomic practices of sustainable rice-wheat crop intensification on food security, economic adaptability, and environmental mitigation across eastern Indo-Gangetic PlainsJ S Mishra, S P Poonia, Rakesh Kumar, et al.
American Journal of Human Genetics|May 10, 2011
Whole-Exome sequencing identifies FAM20A mutations as a cause of amelogenesis imperfecta and gingival hyperplasia syndromeJames O'Sullivan, Carolina C Bitu, Sarah B Daly, et al.
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