Molecular Findings Among Patients Referred for Clinical Whole-Exome SequencingYAPING YANG; MUZNY, Donna M; VEERARAGHAVAN, Narayanan et al.JAMA, the journal of the American Medical Association. 2014, Vol 312, Num 18, pp 1870-1879, issn 0098-7484, 10 p.Article

Clinical Exome Sequencing for Genetic Identification of Rare Mendelian DisordersHANE LEE; DEIGNAN, Joshua L; FOX, Michelle et al.JAMA, the journal of the American Medical Association. 2014, Vol 312, Num 18, pp 1880-1887, issn 0098-7484, 8 p.Article

Exome Sequencing of Prostate Cancer Supports the Hypothesis of Independent Tumour OriginsLINDBERG, Johan; KLEVEBRING, Daniel; LIU, Wennuan et al.European urology. 2013, Vol 63, Num 2, pp 347-353, issn 0302-2838, 7 p.Article

Exome sequencing and complex disease: practical aspects of rare variant association studiesDO, Ron; KATHIRESAN, Sekar; ABECASIS, Gonçalo R et al.Human molecular genetics (Print). 2012, Vol 21, Num 1, issn 0964-6906, R1-R9, NS1Article

A new paradigm emerges from the study of de novo mutations in the context of neurodevelopmental diseaseKU, C. S; POLYCHRONAKOS, C; TAN, E. K et al.Molecular psychiatry. 2013, Vol 18, Num 2, pp 141-153, issn 1359-4184, 13 p.Article

Exomic landscape of MED12 mutation-negative and -positive uterine leiomyomasMÄKINEN, Netta; VAHTERISTO, Pia; BÜTZOW, Ralf et al.International journal of cancer (Print). 2014, Vol 134, Num 4, pp 1008-1012, issn 0020-7136, 5 p.Article

Mutations in SETBP1 are recurrent in myelodysplastic syndromes and often coexist with cytogenetic markers associated with disease progressionFERNANDEZ-MERCADO, Marta; PELLAGATTI, Andrea; BOULTWOOD, Jacqueline et al.British journal of haematology. 2013, Vol 163, Num 2, pp 235-239, issn 0007-1048, 5 p.Article

Predisposition gene identification in common cancers by exome sequencing: insights from familial breast cancerSNAPE, Katie; RUARK, Elise; RAHMAN, Nazneen et al.Breast cancer research and treatment. 2012, Vol 134, Num 1, pp 429-433, issn 0167-6806, 5 p.Article

Whole-exome sequencing identifies tetratricopeptide repeat domain 7A (TTC7A) mutations for combined immunodeficiency with intestinal atresiasRUI CHEN; GILIANI, Silvia; EUSKIRCHEN, Ghia et al.Journal of allergy and clinical immunology. 2013, Vol 132, Num 3, pp 656-664, issn 0091-6749, 9 p.Article

Exome sequencing identifies MPL as a causative gene in familial aplastic anemiaWALNE, Amanda J; DOKAL, Arran; PLAGNOL, Vincent et al.Haematologica (Roma). 2012, Vol 97, Num 4, pp 524-528, issn 0390-6078, 5 p.Article

Whole-exome sequencing of pediatric acute lymphoblastic leukemiaLILLJEBJÖRN, H; RISSLER, M; LASSEN, C et al.Leukemia. 2012, Vol 26, Num 7, pp 1602-1607, issn 0887-6924, 6 p.Article

Translating exome sequencing from research to clinical diagnosticsCOONROD, Emily M; MARGRAF, Rebecca L; VOELKERDING, Karl V et al.Clinical chemistry and laboratory medicine. 2012, Vol 50, Num 7, pp 1161-1168, issn 1434-6621, 8 p.Conference Paper

Whole-exome sequencing identifies somatic mutations of BCOR in acute myeloid leukemia with normal karyotypeGROSSMANN, Vera; TIACCI, Enrico; TRIFONOV, Vladimir et al.Blood. 2011, Vol 118, Num 23, pp 6153-6163, issn 0006-4971, 11 p.Article

Exome sequencing reveals a signal transducer and activator of transcription 1 (STAT1) mutation in a child with recalcitrant cutaneous fusariosisXIAOWEN WANG; ZHIMIAO LIN; LUJUAN GAO et al.Journal of allergy and clinical immunology. 2013, Vol 131, Num 4, pp 1242-1243, issn 0091-6749, 2 p.Article

Diagnostic Exome Sequencing in Persons with Severe Intellectual DisabilityDE LIGT, Joep; WILLEMSEN, Marjolein H; DEL ROSARIO, Marisol et al.The New England journal of medicine. 2012, Vol 367, Num 20, pp 1921-1929, issn 0028-4793, 9 p.Article

A Progeroid Syndrome with Neonatal Presentation and Long Survival Maps to 19p13.3p13.2AKAWI, Nadia; ALI, Bassam; LIHADH AL GAZALI et al.Birth defects research. Clinical and molecular teratology. 2013, Vol 97, Num 7, pp 456-462, issn 1542-0752, 7 p.Article

FAN1 variants identified in multiple-case early-onset breast cancer families via exome sequencing: no evidence for association with risk for breast cancerPARK, Daniel J; ODEFREY, Fabrice A; SINILNIKOVA, Olga M et al.Breast cancer research and treatment. 2011, Vol 130, Num 3, pp 1043-1049, issn 0167-6806, 7 p.Article

Identification of the integrin β3 L718P mutation in a pedigree with autosomal dominant thrombocytopenia with anisocytosisKOBAYASHI, Yoshiyuki; MATSUI, Hirotaka; KANAI, Akinori et al.British journal of haematology. 2013, Vol 160, Num 4, pp 521-529, issn 0007-1048, 9 p.Article

Disclosure of Incidental Findings From Next-Generation Sequencing in Pediatric Genomic ResearchABDUL-KARIM, Ruqayyah; BERKMAN, Benjamin E; WENDLER, David et al.Pediatrics (Evanston). 2013, Vol 131, Num 3, pp 564-571, issn 0031-4005, 8 p.Article

The Mitochondrial and Autosomal Mutation Landscapes of Prostate CancerLINDBERG, Johan; MILLS, Ian G; GRÖNBERG, Henrik et al.European urology. 2013, Vol 63, Num 4, pp 702-708, issn 0302-2838, 7 p.Article

Exome Resequencing Combined With Linkage Analysis Identifies Novel PTH1R Variants in Primary Failure of Tooth Eruption in JapaneseYAMAGUCHI, Tetsutaro; HOSOMICHI, Kazuyoshi; NARITA, Akira et al.Journal of bone and mineral research (Print). 2011, Vol 26, Num 7, pp 1655-1661, issn 0884-0431, 7 p.Article

Disease gene identification strategies for exome sequencingGILISSEN, Christian; HOISCHEN, Alexander; BRUNNER, Han G et al.European journal of human genetics. 2012, Vol 20, Num 5, pp 490-497, issn 1018-4813, 8 p.Article

Autism geneticsPERSICO, Antonio M; NAPOLIONI, Valerio.Behavioural brain research. 2013, Vol 251, pp 95-112, issn 0166-4328, 18 p.Article

Targeted high throughput sequencing of a cancer-related exome subset by specific sequence capture with a fully automated microarray platformSUMMERER, Daniel; SCHRACKE, Nadine; HAIGUO WU et al.Genomics (San Diego, Calif.). 2010, Vol 95, Num 4, pp 241-246, issn 0888-7543, 6 p.Article

Exome Sequencing Identifies 2 Rare Variants for Low High-Density Lipoprotein Cholesterol in an Extended FamilyPRASAD LINGA REDDY, M. V; IATAN, Iulia; WEISSGLAS-VOLKOV, Daphna et al.Circulation. Cardiovascular genetics (Print). 2012, Vol 5, Num 5, pp 538-546, issn 1942-325X, 9 p.Article