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Szperl AM, Ricaño‐Ponce I, Li JK, Deelen P, Kanterakis A, Plagnol V, van Dijk F, Westra HJ, Trynka G, Mulder CJ, Swertz M, Wijmenga C, Zheng H Ch. Exome sequencing in a family segregating for celiac disease. Celiac disease is a multifactorial disorder caused by an unknown number of genetic...
De Luca A, Sarkozy A, Ferese R, Consoli F, Lepri F, Dentici ML, Vergara P, De Zorzi A, Versacci P, Digilio MC, Marino B, Dallapiccola B. New mutations in ZFPM2/FOG2 gene in tetralogy of Fallot and double outlet right ventricle. Conotruncal defects (CTDs) represent 15–20% of all congenital heart...
Ostergaard P, Simpson MA, Jeffery S. Massively parallel sequencing and the identification of genes for primary lymphoedema: a perfect fit. Primary lymphoedema is a clinically and genetically heterogeneous group of disorders characterized by disruption of the lymphatic system. To date, the...
Bras JM, Singleton AB. Exome sequencing in Parkinson's disease. Exome sequencing is rapidly becoming a fundamental tool for genetics and functional genomics laboratories. This methodology has enabled the discovery of novel pathogenic mutations causing mendelian diseases that had, until now,...
Boyadjiev SA, Kim S‐D, Hata A, Haldeman‐Englert C, Zackai EH, Naydenov C, Hamamoto S, Schekman RW, Kim J. Cranio‐lenticulo‐sutural dysplasia associated with defects in collagen secretion. Cranio‐lenticulo‐sutural dysplasia (CLSD) is a rare autosomal recessive syndrome manifesting with...
Whole‐exome re‐sequencing in a family quartet identifies POP1 mutations as the cause of a novel skeletal dysplasia Glazov et al. (2011) PLoS Genetics 7(3):e1002027
Schlipf NA, Schüle R, Klimpe S, Karle KN, Synofzik M, Schicks J, Riess O, Schöls L, Bauer P. Amplicon‐based high‐throughput pooled sequencing identifies mutations in CYP7B1 and SPG7 in sporadic spastic paraplegia patients. Hereditary spastic paraplegia (HSP) is a neurodegenerative disorder...
Fradin M, Stoetzel C, Muller J, Koob M, Christmann D, Debry C, Kohler M, Isnard M, Astruc D, Desprez P, Zorres C, Flori E, Dollfus H, Doray B. Osteosclerotic bone dysplasia in siblings with a Fam20C mutation. Raine syndrome is an autosomal recessive disorder caused by mutations in the FAM20C...
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