Quantitative trait loci modifying cardiac atrial septal morphology and risk of patent foramen ovale in the mouseKIRK, Edwin P; HYUN, Changbaig; THOMSON, Peter C et al.Circulation research. 2006, Vol 98, Num 5, pp 651-658, issn 0009-7330, 8 p.Article

The frequency of founder mutations in the BRCA1, BRCA2, and APC genes in Australian Ashkenazi Jews implications for the generality of U.S. population dataBAHAR, Anita Y; TAYLOR, Peter J; ANDREWS, Lesley et al.Cancer. 2001, Vol 92, Num 2, pp 440-445, issn 0008-543XArticle

A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9JUSTICE, Cristina M; YAGNIK, Garima; KIMONIS, Virginia et al.Nature genetics. 2012, Vol 44, Num 12, pp 1360-1364, issn 1061-4036, 5 p.Article

Prenatal and Postnatal Presentation of Severe Achondroplasia With Developmental Delay and Acanthosis Nigricans (SADDAN) Due to the FGFR3 Lys650Met MutationZANKL, Andreas; ELAKIS, George; SUSMAN, Rachel D et al.American journal of medical genetics. Part A. 2008, Vol 146, Num 2, pp 212-218, issn 1552-4825, 7 p.Article

Best practice guidelines and recommendations on the molecular diagnosis of myotonic dystrophy types 1 and 2KAMSTEEG, Erik-Jan; KRESS, Wolfram; CATALLI, Claudio et al.European journal of human genetics. 2012, Vol 20, Num 12, pp 1203-1208, issn 1018-4813, 6 p.Article

Chromosome 2q24.2 is lost in sporadic but not in BRCA1-associated ovarian carcinomasAGHMESHEH, Morteza; ZHENHE SUO; FRIEDLANDER, Michael et al.Pathology (Sydney). 2006, Vol 38, Num 2, pp 145-151, issn 0031-3025, 7 p.Article

Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycanROSCIOLI, Tony; KAMSTEEG, Erik-Jan; SCHRADERS, Margit et al.Nature genetics. 2012, Vol 44, Num 5, pp 581-585, issn 1061-4036, 5 p.Article

Measurement of the clinical utility of a combined mutation detection protocol in carriers of Duchenne and Becker muscular dystrophyTAYLOR, Peter J; MAROULIS, Sarah; BELL, Christopher G et al.Journal of medical genetics. 2007, Vol 44, Num 6, pp 368-372, issn 0022-2593, 5 p.Article

Mutations in the gene encoding the PML nuclear body protein Sp110 are associated with immunodeficiency and hepatic veno-occlusive diseaseROSCIOLI, Tony; CLIFFE, Simon T; ZIEGLER, John B et al.Nature genetics. 2006, Vol 38, Num 6, pp 620-622, issn 1061-4036, 3 p.Article

Clinical, molecular, and cellular immunologic findings in patients with SP110-associated veno-occlusive disease with immunodeficiency syndromeCLIFFE, Simon T; BLOCH, Donald B; AKATCHERIAN, Carlo et al.Journal of allergy and clinical immunology. 2012, Vol 130, Num 3, pp 735-742, issn 0091-6749, 8 p.Article

SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathwayCLIFFE, Simon T; KRAMER, Jamie M; JAMES, Chela et al.Human molecular genetics (Print). 2009, Vol 18, Num 12, pp 2257-2265, issn 0964-6906, 9 p.Article

The first prenatal diagnosis for veno-occlusive disease and immunodeficiency syndrome, an autosomal recessive condition associated with mutations in SP110CLIFFE, Simon T; WONG, Melanie; TAYLOR, Peter J et al.Prenatal diagnosis. 2007, Vol 27, Num 7, pp 674-676, issn 0197-3851, 3 p.Article

The 10q24-linked split hand/split foot syndrome (SHFM3): Narrowing of the critical region and confirmation of the clinical phenotypeROSCIOLI, Tony; TAYLOR, Peter J; BOHLKEN, Andrew et al.American journal of medical genetics. 2004, Vol 124A, Num 2, pp 136-141, issn 0148-7299, 6 p.Article