The syndrome of hereditary leiomyomatosis and renal cell cancer (HLRCC) : The clinical features of an individual with a fumarate hydratase gene mutationVAROL, Alexandra; STAPLETON, Karen; ROSCIOLI, Tony et al.Australasian journal of dermatology. 2006, Vol 47, Num 4, pp 274-276, issn 0004-8380, 3 p.Article

Lambdoid Synostosis and Craniofacial Dysmorphism With Normal Intellect: A Novel Syndrome?RIEUBLAND, Claudine; HOLMES, Anthony D; CARAMINS, Melody et al.American journal of medical genetics. Part A. 2011, Vol 155, Num 1, pp 233-234, issn 1552-4825, 2 p.Article

Hepatic veno-occlusive disease with immunodeficiency (VODI): First reported case in the U.S. and identification of a unique mutation in Sp110WANG, Tiffany; ONG, Peck; ROSCIOLI, Tony et al.Clinical immunology (Orlando, Fla. Print). 2012, Vol 145, Num 2, pp 102-107, issn 1521-6616, 6 p.Article

Phenotypic Variability in Hyperphosphatasia With Seizures and Neurologic Deficit (Mabry Syndrome)THOMPSON, Miles D; ROSCIOLI, Tony; KRAWITZ, Peter et al.American journal of medical genetics. Part A. 2012, Vol 158, Num 3, pp 553-558, issn 1552-4825, 6 p.Article

Allogeneic bone marrow transplantation: cure for familial Mediterranean feverMILLEDGE, John; SHAW, Peter J; MANSOUR, Albert et al.Blood. 2002, Vol 100, Num 3, pp 774-777, issn 0006-4971Article

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

B4GALT1-Congenital Disorders of Glycosylation Presents as a Non-Neurologic Glycosylation Disorder with Hepatointestinal InvolvementGUILLARD, Maïlys; MORAVA, Eva; LEFEBER, Dirk J et al.The Journal of pediatrics. 2011, Vol 159, Num 6, pp 1041-1043, issn 0022-3476, 3 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

Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcificationRUTSCH, Frank; RUF, Nico; EPPLEN, Jörg T et al.Nature genetics. 2003, Vol 34, Num 4, pp 379-381, issn 1061-4036, 3 p.Article

Somatic and germline mosaicism for a R248C missense mutation in FGFR3, resulting in a skeletal dysplasia distinct from thanatophoric dysplasiaHYLAND, Valentine J; ROBERTSON, Stephen P; FLANAGAN, Simon et al.American journal of medical genetics. 2003, Vol 120A, Num 2, pp 157-168, issn 0148-7299, 12 p.Article

De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndromeRIVIERE, Jean-Baptiste; VAN BON, Bregje W. M; ATKIN, Joan F et al.Nature genetics. 2012, Vol 44, Num 4, pp 440-444, issn 1061-4036, 5 p.Article

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

Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndromeKRAWITZ, Peter M; SCHWEIGER, Michal R; ISAU, Melanie et al.Nature genetics. 2010, Vol 42, Num 10, pp 827-829, issn 1061-4036, 3 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

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

Mutations in PIGO, a Member of the GPI-Anchor-Synthesis Pathway, Cause Hyperphosphatasia with Mental RetardationKRAWITZ, Peter M; MURAKAMI, Yoshiko; KIELBASA, Szymon et al.American journal of human genetics. 2012, Vol 91, Num 1, pp 146-151, issn 0002-9297, 6 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