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Mammalian Genome : Official Journal of the International Mammalian Genome Society|December 4, 2002
The distinguishing sequence characteristics of mouse imprinted genesXiayi Ke, N Simon Thomas, David O Robinson, et al.
Neuromuscular Disorders : NMD|February 14, 2007
Siblings with recessive oculopharyngeal muscular dystrophySrisha Hebbar, Michael J Webberley, Peter Lunt, et al.
Orbit (Amsterdam, Netherlands)|September 22, 2006
Towards an understanding of congenital ptosisTristan F W McMullan, David O Robinson, Anthony G Tyers
European Journal of Medical Genetics|May 4, 2020
Screening of a large PAX6 cohort identified many novel variants and emphasises the importance of the paired and homeobox domainsEsther Cross, Philippa J Duncan-Flavell, Rachel J Howarth, et al.
Human Genetics|January 13, 2005
Oculopharyngeal muscular dystrophy (OPMD): analysis of the PABPN1 gene expansion sequence in 86 patients reveals 13 different expansion types and further evidence for unequal recombination as the mutational mechanismDavid O Robinson, Simon R Hammans, Steven P Read, et al.
Clinical Genetics|September 23, 2022
A novel variant in GATM causes idiopathic renal Fanconi syndrome and predicts progression to end-stage kidney diseaseEleanor G Seaby, Steven Turner, David J Bunyan, et al.
American Journal of Medical Genetics. Part A|August 23, 2020
Screening of a large Rubinstein-Taybi cohort identified many novel variants and emphasizes the importance of the CREBBP histone acetyltransferase domainEsther Cross, Philippa J Duncan-Flavell, Rachel J Howarth, et al.
Cytogenetic and Genome Research|March 17, 2023
SHOX Whole Gene Duplications Are Overrepresented in SHOX Haploinsufficiency Phenotype CohortsDavid J Bunyan, James I Hobbs, Philippa J Duncan-Flavell, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|September 9, 2015
Collagen (COL4A) mutations are the most frequent mutations underlying adult focal segmental glomerulosclerosisChristine Gast, Reuben J Pengelly, Matthew Lyon, et al.
American Journal of Medical Genetics. Part A|April 14, 2007
Smith-Magenis syndrome and Moyamoya disease in a patient with del(17)(p11.2p13.1)Santhosh Girirajan, Roberto Mendoza-Londono, Christopher N Vlangos, et al.
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