Campbell CD, Mohajeri K, Malig M, Hormozdiari F, Nelson B, Du G, Patterson KM, Eng C, Torgerson DG, Hu D, Herman C, Chong JX, Ko A, O’Roak BJ, Krumm N, Vives L, Lee C, Roth LA, Rodriguez-Cintron W, Rodriguez-Santana J, Brigino-Buenaventura E, Davis A, Meade K, LeNoir MA, Thyne S, Jackson DJ, Gern JE, Lemanske RF Jr, Shendure J, Abney M, Burchard EG, Ober C, Eichler EE. (2014). Whole-genome sequencing of individuals from a founder population identifies candidate genes for asthma. PLOS One Aug 12;9(8):e104396.
Blog Archives
Disruptive CHD8 mutations define a subtype of autism early in development
Bernier R, Golzio C, Xiong B, Stessman HA, Coe BP, Penn O, Witherspoon K, Gerdts J, Baker C, Vulto-van Silfhout AT, Schuurs-Hoeijmakers JH, Fichera M, Bosco P, Buono S, Alberti A, Failla P, Peeters H, Steyaert J, Vissers LE, Francescatto L, Mefford HC, Rosenfeld JA, Bakken T, O’Roak BJ, Pawlus M, Moon R, Shendure J, Amaral DG, Lein E, Rankin J, Romano C, de Vries BB, Katsanis N, Eichler EE. (2014). Disruptive CHD8 mutations define a subtype of autism early in development. Cell Jul 17;158(2):263-76.
Resolving genomic disorder-associated breakpoints within segmental DNA duplications using massively parallel sequencing
Nuttle X, Itsara A, Shendure J, Eichler EE. (2014). Resolving genomic disorder-associated breakpoints within segmental DNA duplications using massively parallel sequencing. Nat Protoc Jun;9(6):1496-513.
Prioritization of neurodevelopmental disease genes by discovery of new mutations
Hoischen A, Krumm N, Eichler EE. (2014). Prioritization of neurodevelopmental disease genes by discovery of new mutations. Nat Neurosci Jun;17(6):764-72.
mrsFAST-Ultra: a compact, SNP-aware mapper for high performance sequencing applications
Hach F, Sarrafi I, Hormozdiari F, Alkan C, Eichler EE, Sahinalp SC. (2014). mrsFAST-Ultra: a compact, SNP-aware mapper for high performance sequencing applications. Nucleic Acids Res Jul;42(W1):W494-500.
Mutations affecting the SAND domain of DEAF1 cause intellectual Disability with severe speech impairment and behavioral problems
Vulto-van Silfhout AT, Rajamanickam S, Jensik PJ, Vergult S, de Rocker N, Newhall KJ, Raghavan R, Reardon SN, Jarrett K, McIntyre T, Bulinski J, Ownby SL, Huggenvik JI, McKnight GS, Rose GM, Cai X, Willaert A, Zweier C, Endele S, de Ligt J, van Bon BW, Lugtenberg D, de Vries PF, Veltman JA, van Bokhoven H, Brunner HG, Rauch A, de Brouwer AP, Carvill GL, Hoischen A, Mefford HC, Eichler EE, Vissers LE, Menten B, Collard MW, de Vries BB. (2014). Mutations affecting the SAND domain of DEAF1 cause intellectual Disability with severe speech impairment and behavioral problems. Am J Hum Genet May 1;94(5):649-61.
Low copy number of the salivary amylase gene predisposes to obesity
Falchi M, El-Sayed Moustafa JS, Takousis P, Pesce F, Bonnefond A, Andersson-Assarsson JC, Sudmant PH, Dorajoo R, Al-Shafai MN, Bottolo L, Ozdemir E, So HC, Davies RW, Patrice A, Dent R, Mangino M, Hysi PG, Dechaume A, Huyvaert M, Skinner J, Pigeyre M, Caiazzo R, Raverdy V, Vaillant E, Field S, Balkau B, Marre M, Visvikis-Siest S, Weill J, Poulain-Godefroy O, Jacobson P, Sjostrom L, Hammond CJ, Deloukas P, Sham PC, McPherson R, Lee J, Tai ES, Sladek R, Carlsson LM, Walley A, Eichler EE, Pattou F, Spector TD, Froguel P. (2014). Low copy number of the salivary amylase gene predisposes to obesity. Nat Genet May;46(5):492-7.
Subtelomeric CTCF and cohesin binding site organization using improved subtelomere assemblies and a novel annotation pipeline
Stong N, Deng Z, Gupta R, Hu S, Paul S, Weiner AK, Eichler EE, Graves T, Fronick CC, Courtney L, Wilson RK, Lieberman P, Davuluri RV, Riethman H. (2014). Subtelomeric CTCF and cohesin binding site organization using improved subtelomere assemblies and a novel annotation pipeline. Genome Res Jun;24(6):1039-50.
A Higher Mutational Burden in Females Supports a “Female Protective Model” in Neurodevelopmental Disorders
Jacquemont S, Coe BP, Hersch M, Duyzend MH, Krumm N, Bergmann S, Beckmann JS, Rosenfeld JA, Eichler EE. (2014). A Higher Mutational Burden in Females Supports a “Female Protective Model” in Neurodevelopmental Disorders. Am J Hum Genet Mar 6;94(3):415-25.
A genotype-first approach to defining the subtypes of a complex disease
Stessman HA, Bernier R, Eichler EE. (2014). A genotype-first approach to defining the subtypes of a complex disease. Cell Feb 27;156(5):872-7.
A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP
Helsmoortel C, Vulto-van Silfhout AT, Coe BP, Vandeweyer G, Rooms L, van den Ende J, Schuurs-Hoeijmakers JH, Marcelis CL, Willemsen MH, Vissers LE, Yntema HG, Bakshi M, Wilson M, Witherspoon KT, Malmgren H, Nordgren A, Anneren G, Fichera M, Bosco P, Romano C, de Vries BB, Kleefstra T, Kooy RF, Eichler EE, Van der Aa N. (2014). A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP. Nat Genet Apr;46(4):380-4.
An inherited duplication at the gene p21 Protein-Activated Kinase 7 (PAK7) is a risk factor for psychosis
Morris DW, Pearson RD, Cormican P, Kenny EM, O’Dushlaine CT, Lemieux Perreault LP, Giannoulatou E, Tropea D, Maher BS, Wormley B, Kelleher E, Fahey C, Molinos I, Bellini S, Pirinen M, Strange A, Freeman C, Thiselton DL, Elves RL, Regan R, Ennis S, Dinan TG, McDonald C, Murphy KC, O’Callaghan E, Waddington JL, Walsh D, O’Donovan M, Grozeva D, Craddock N, Stone J, Scolnick E, Purcell S, Sklar P, Coe B, Eichler EE, Ophoff R, Buizer J, Szatkiewicz J, Hultman C, Sullivan P, Gurling H, McQuillin A, St Clair D, Rees E, Kirov G, Walters J, Blackwood D, Johnstone M, Donohoe G; International Schizophrenia Consortium; SGENE+ Consortium, O’Neill FA; Wellcome Trust Case Control Consortium 2, Kendler KS, Gill M, Riley BP, Spencer CC, Corvin A. (2014). An inherited duplication at the gene p21 Protein-Activated Kinase 7 (PAK7) is a risk factor for psychosis. Hum Mol Genet Jun 15;23(12):3316-26.
