Familial hyper- and hypopigmentation with age-related pattern changeHOO, Joe J; SHRIMPTON, Antony E.American journal of medical genetics. 2005, Vol 132A, Num 2, pp 215-218, issn 0148-7299, 4 p.Article

Karyotype-phenotype analysis and molecular delineation of a 3p26 deletion/8q24.3 duplication case with a virtually normal phenotype and mild cognitive deficitSHRIMPTON, Antony E; JENSEN, Kimberly A; HOO, Joe J et al.American journal of medical genetics. Part A. 2006, Vol 140, Num 4, pp 388-391, issn 1552-4825, 4 p.Article

OCRL1 Mutations in Dent 2 Patients Suggest a Mechanism for Phenotypic VariabilitySHRIMPTON, Antony E; HOOPES, Richard R; MILFORD, David V et al.The Nephron journals. 2009, Vol 112, Num 2, issn 1660-8151, p27-p36Article

Characterization of publicly available lymphoblastoid cell lines for disease-associated mutations in 11 genesBERNACKI, Susan H; BECK, Jeanne C; MURALIDHARAN, Kasinathan et al.Clinical chemistry (Baltimore, Md.). 2005, Vol 51, Num 11, pp 2156-2159, issn 0009-9147, 4 p.Article

Dent disease with mutations in OCRL1HERPES, Richard R; SHRIMPTON, Antony E; NUSSBAUM, Robert L et al.American journal of human genetics. 2005, Vol 76, Num 2, pp 260-267, issn 0002-9297, 8 p.Article

A new HLA-A1 mutation: A novel, null variant alleleHENRY, John Bernard; HUBBELL, Charlene A; DAVIS, Mary C et al.American journal of clinical pathology. 2004, Vol 122, Num 2, pp 185-192, issn 0002-9173, 8 p.Article

Genetically characterized positive control cell lines derived from residual clinical blood samplesBERNACKI, Susan H; BECK, Jeanne C; MONAGHAN, Kristin G et al.Clinical chemistry (Baltimore, Md.). 2005, Vol 51, Num 11, pp 2013-2024, issn 0009-9147, 12 p.Article

A HOX gene mutation in a family with isolated congenital vertical talus and Charcot-Marie-Tooth diseaseSHRIMPTON, Antony E; LEVINSOHN, E. Mark; YOZAWITZ, Justin M et al.American journal of human genetics. 2004, Vol 75, Num 1, pp 92-96, issn 0002-9297, 5 p.Article

Association between conformational mutations in neuroserpin and onset and severity of dementiaDAVIS, Richard L; SHRIMPTON, Antony E; PICCARDO, Pedro et al.Lancet (British edition). 2002, Vol 359, Num 9325, pp 2242-2247, issn 0140-6736Article