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 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

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

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

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

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

Novel Clinically Relevant Genes in Gastrointestinal Stromal Tumors Identified by Exome SequencingSCHOPPMANN, Sebastian F; VINATZER, Ursula; POPITSCH, Niko et al.Clinical cancer research (Print). 2013, Vol 19, Num 19, pp 5329-5339, issn 1078-0432, 11 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 and Whole-Genome Sequencing as Clinical Tests: A Transformative Practice in Molecular DiagnosticsYONGGUO YU; WU, Bai-Lin; JIE WU et al.Clinical chemistry (Baltimore, Md.). 2012, Vol 58, Num 11, pp 1507-1509, issn 0009-9147, 3 p.Article

Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencingTIMAL, Sharita; HOISCHEN, Alexander; GILISSEN, Christian et al.Human molecular genetics (Print). 2012, Vol 21, Num 19, pp 4151-4161, issn 0964-6906, 11 p.Article

Whole-exome sequencing identifies mutations in the nucleoside transporter gene SLC29A3 in dysosteosclerosis, a form of osteopetrosisCAMPEAU, Philippe M; LU, James T; WHYTE, Michael P et al.Human molecular genetics (Print). 2012, Vol 21, Num 22, pp 4904-4909, issn 0964-6906, 6 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

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing studyRAUCH, Anita; WIECZOREK, Dagmar; DUFKE, Andreas et al.Lancet (British edition). 2012, Vol 380, Num 9854, pp 1674-1682, issn 0140-6736, 9 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

Use of Whole-Exome Sequencing to Determine the Genetic Basis of Multiple Mitochondrial Respiratory Chain Complex DeficienciesTAYLOR, Robert W; PYLE, Angela; YARHAM, John W et al.JAMA, the journal of the American Medical Association. 2014, Vol 312, Num 1, pp 68-77, issn 0098-7484, 10 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

A Single-Nucleotide Substitution Mutator Phenotype Revealed by Exome Sequencing of Human Colon AdenomasNIKOLAEV, Sergey I; SOTIRIOU, Sotirios K; GORGOULIS, Vassilis G et al.Cancer research (Chicago, Ill.). 2012, Vol 72, Num 23, pp 6279-6289, issn 0008-5472, 11 p.Article

Exome sequencing identifies MXRA5 as a novel cancer gene frequently mutated in non-small cell lung carcinoma from Chinese patientsDONGHAI XIONG; GUANGMING LI; HUI JIANG et al.Carcinogenesis (New York. Print). 2012, Vol 33, Num 9, pp 1797-1805, issn 0143-3334, 9 p.Article

Exome sequencing reveals frequent inactivating mutations in ARID1A, ARID1B, ARID2 and ARID4A in microsatellite unstable colorectal cancerCAJUSO, Tatiana; HANNINEN, Ulrika A; TAIPALE, Jussi et al.International journal of cancer (Print). 2014, Vol 135, Num 3, pp 611-623, issn 0020-7136, 13 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

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

Identification of somatic mutations in non-small cell lung carcinomas using whole-exome sequencingPENGYUANLIU; MORRISON, Carl; EBBEN, John D et al.Carcinogenesis (New York. Print). 2012, Vol 33, Num 7, pp 1270-1276, issn 0143-3334, 7 p.Article