User Publications

Characterizing genetic variants for clinical action.

Ramos EM, Din-Lovinescu C, Berg JS, Brooks LD, Duncanson A, Dunn M, Good P, Hubbard TJ, Jarvik GP, O’Donnell C, Sherry ST, Aronson N, Biesecker LG, Blumberg B, Calonge N, Colhoun HM, Epstein RS, Flicek P, Gordon ES, Green ED, Green RC, Hurles M, Kawamoto K, Knaus W, Ledbetter DH, Levy HP, Lyon E, Maglott D, McLeod HL, Rahman N, Randhawa G, Wicklund C, Manolio TA, Chisholm RL, Williams MS.
Am J Med Genet C Semin Med Genet. 2014 Mar 13.


Paralogue annotation identifies novel pathogenic variants in patients with Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia.

Walsh R1, Peters NS, Cook SA, Ware JS.
J Med Genet. 2014 Jan;51(1):35-44


Albinism-causing mutations in recombinant human tyrosinase alter intrinsic enzymatic activity.

Dolinska MB1, Kovaleva E2, Backlund P3, Wingfield PT4, Brooks BP1, Sergeev YV1
PLoS One. 2014 Jan 2;9(1):e84494


Classic phenotype of Coffin-Lowry syndrome in a female with stimulus-induced drop episodes and a genotype with preserved N-terminal kinase domain.

Rojnueangnit K1, Jones JR, Basehore MJ, Robin NH.
Am J Med Genet A. 2014 Feb;164A(2):516-21.


Array Comparative Genomic Hybridization Identifies a Heterozygous Deletion of the Entire KCNJ2 Gene as a Cause of Sudden Cardiac Death.

Marquis-Nicholson R1, Prosser DO, Love JM, Zhang L, Hayes I, George AM, Crawford JR, Skinner JR, Love DR.
Circ Cardiovasc Genet. 2014 Feb 1;7(1):17-22.


Two novel distinct COL1A2 mutations highlight the complexity of genotype-phenotype correlations in osteogenesis imperfecta and related connective tissue disorders.

Reuter MS, Schwabe GC, Ehlers C, Marschall C, Reis A, Thiel C, Graul-Neumann L.
Eur J Med Genet. 2013 Oct 17.


Assessing the phenotypic effects in the general population of rare variants in genes for a dominant Mendelian form of diabetes.

Flannick J, Beer NL, Bick AG, Agarwala V, Molnes J, Gupta N, Burtt NP, Florez JC, Meigs JB, Taylor H, Lyssenko V, Irgens H, Fox E, Burslem F, Johansson S, Brosnan MJ, Trimmer JK, Newton-Cheh C, Tuomi T, Molven A, Wilson JG, O’Donnell CJ, Kathiresan S, Hirschhorn JN, Njølstad PR, Rolph T, Seidman JG, Gabriel S, Cox DR, Seidman CE, Groop L, Altshuler D.
Nat Genet. 2013 Nov.


Actionable, pathogenic incidental findings in 1,000 participants’ exomes.

Dorschner MO, Amendola LM, Turner EH, Robertson PD, Shirts BH, Gallego CJ, Bennett RL, Jones KL, Tokita MJ, Bennett JT, Kim JH, Rosenthal EA, Kim DS; National Heart, Lung, and Blood Institute Grand Opportunity Exome Sequencing Project, Tabor HK, Bamshad MJ, Motulsky AG, Scott CR, Pritchard CC, Walsh T, Burke W, Raskind WH, Byers P, Hisama FM, Nickerson DA, Jarvik GP.
Am J Hum Genet. 2013 Oct 3.


Towards precision medicine: advances in computational approaches for the analysis of human variants.

Peterson TA, Doughty E, Kann MG.
J Mol Biol. 2013 Nov 1.


Databases of genomic variation and phenotypes: existing resources and future needs.

Johnston JJ, Biesecker LG.
Hum Mol Genet. 2013 Oct 15.


A genetic study of Wilson’s disease in the United Kingdom.

Coffey AJ, Durkie M, Hague S, McLay K, Emmerson J, Lo C, Klaffke S, Joyce CJ, Dhawan A, Hadzic N, Mieli-Vergani G, Kirk R, Elizabeth Allen K, Nicholl D, Wong S, Griffiths W, Smithson S, Giffin N, Taha A, Connolly S, Gillett GT, Tanner S, Bonham J, Sharrack B, Palotie A, Rattray M, Dalton A, Bandmann O.
Brain. 2013 Mar 21.


New clinical and molecular insights on Barth syndrome.

Ferri L, Donati MA, Funghini S, Malvagia S, Catarzi S, Lugli L, Ragni L, Bertini E, Vaz FM, Cooper DN, Guerrini R, Morrone A. Orphanet J
Rare Dis. 2013 Feb 14.


Autosomal dominant polycystic kidney disease in a family with mosaicism and hypomorphic allele.

Reiterová J, Stekrová J, Merta M, Kotlas J, Elišáková V, Lnenicka P, Korabecná M, Kohoutová M, Tesar V.
BMC Nephrol. 2013 Mar 15.


A sensitive and specific diagnostic test for hearing loss using a microdroplet PCR-based approach and next generation sequencing.

Schrauwen I, Sommen M, Corneveaux JJ, Reiman RA, Hackett NJ, Claes C, Claes K, Bitner-Glindzicz M, Coucke P, Van Camp G, Huentelman MJ.
Am J Med Genet A. 2013 Jan.


Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency.

Berryer MH, Hamdan FF, Klitten LL, Møller RS, Carmant L, Schwartzentruber J, Patry L, Dobrzeniecka S, Rochefort D, Neugnot-Cerioli M, Lacaille JC, Niu Z, Eng CM, Yang Y, Palardy S, Belhumeur C, Rouleau GA, Tommerup N, Immken L, Beauchamp MH, Patel GS, Majewski J, Tarnopolsky MA, Scheffzek K, Hjalgrim H, Michaud JL, Di Cristo G.
Hum Mutat. 2013 Feb.


Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes.

Twigg SR, Babbs C, van den Elzen ME, Goriely A, Taylor S, McGowan SJ, Giannoulatou E, Lonie L, Ragoussis J, Akha ES, Knight SJ, Zechi-Ceide RM, Hoogeboom JA, Pober BR, Toriello HV, Wall SA, Rita Passos-Bueno M, Brunner HG, Mathijssen IM, Wilkie AO.
Hum Mol Genet. 2013 Jan 30.


A Novel Missense Mutation, I890T, in the Pore Region of Cardiac Sodium Channel Causes Brugada Syndrome.

Tarradas A, Selga E, Beltran-Alvarez P, Pérez-Serra A, Riuró H, Picó F, Iglesias A, Campuzano O, Castro-Urda V, Fernández-Lozano I, Pérez GJ, Scornik FS, Brugada R.
PLoS One. 2013.


Cystic fibrosis testing in a referral laboratory: results and lessons from a six-year period.

Ridge PG, Miller C, Bayrak-Toydemir P, Best DH, Mao R, Swensen JJ, Lyon E, Voelkerding KV.
J Clin Bioinforma. 2013 Jan.


Mutational analysis of ATP7B in north Chinese patients with Wilson disease.

Li K, Zhang WM, Lin S, Wen L, Wang ZF, Xie D, Wei M, Qiu ZQ, Dai Y, Lin MC, Kung HF, Yao FX.
J Hum Genet. 2012 Dec 13.


Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas.

Palles C, Cazier JB, Howarth KM, Domingo E, Jones AM, Broderick P, Kemp Z, Spain SL, Almeida EG, Salguero I, Sherborne A, Chubb D, Carvajal-Carmona LG, Ma Y, Kaur K, Dobbins S, Barclay E, Gorman M, Martin L, Kovac MB, Humphray S; The CORGI Consortium, Thomas HJ, Maher E, Evans G, Lucassen A, Cummings C, Stevens M, Walker L, Halliday D, Armstrong R, Paterson J, Hodgson S, Homfray T, Side L, Izatt L, Donaldson A, Tomkins S, Morrison P, Goodman S, Brewer C, Henderson A, Davidson R, Murday V, Cook J, Haites N, Bishop T, Sheridan E, Green A, Marks C, Carpenter S, Broughton M, Greenhalge L, Suri M; The WGS500 Consortium; Steering Committee:, Donnelly P Chair, Bell J, Bentley D, McVean G, Ratcliffe P, Taylor J, Wilkie A; Operations Committee:, Donnelly P Chair, Broxholme J, Buck D, Cazier JB, Cornall R, Gregory L, Knight J, Lunter G, McVean G, Taylor J, Tomlinson I, Wilkie A; Sequencing & Experimental Follow-up:, Buck D Lead, Gregory L, Humphray S, Kingsbury Z; Data Analysis:, McVean G Lead, Donnelly P, Cazier JB, Broxholme J, Grocock R, Hatton E, Holmes CC, Hughes L, Humburg P, Kanapin A, Lunter G, Murray L, Rimmer A, Lucassen A, Holmes CC, Bentley D, Donnelly P, Taylor J, Petridis C, Roylance R, Sawyer EJ, Kerr DJ, Clark S, Grimes J, Kearsey SE, Thomas HJ, McVean G, Houlston RS, Tomlinson I.
Nat Genet. 2012 Dec.


Benign familial neonatal convulsions caused by mutation in KCNQ3, exon 6: A European case.

Fister P, Soltirovska-Salamon A, Debeljak M, Paro-Panjan D.
Eur J Paediatr Neurol. 2012 Nov.


Severe phenotypic spectrum of mevalonate kinase deficiency with minimal mevalonic aciduria.

Prasad C, Salvadori MI, Rupar CA.
Mol Genet Metab. 2012.


A Novel Regulatory Defect in the Branched-Chain Alpha-Ketoacid Dehydrogenase Complex Due to a Mutation in the PPM1K Gene Causes a Mild Variant Phenotype of Maple Syrup Urine Disease.

Oyarzabal A, Martínez-Pardo M, Merinero B, Navarrete R, Desviat LR, Ugarte M, Rodríguez-Pombo P.
Hum Mutat. 2012 Oct.


Maternal uniparental disomy of chromosome 2 in a patient with a DGUOK mutation associated with hepatocerebral mitochondrial dna depletion syndrome.

Coralie Haudrya, Pascale de Lonlaya, Valerie Malana, Christine Bole-Feysotd, Zahra Assoulinea, Solenn Pruvostd, Anais Brassiera, Jean-Paul Bonnefonta, Arnold Munnicha, Agnès Rötigb, Anne-Sophie Lebrea.
ScienceDirect. 2012 Oct.


Characterization of seven novel mutations on the HEXB gene in French Sandhoff patients.

Gaignard P, Fagart J, Niemir N, Puech JP, Azouguene E, Dussau J, Caillaud C.
Gene. 2012 Oct.


The spectrum of CLCN1 gene mutations in patients with nondystrophic Thomsen’s and Becker’s myotonias.

E. A. Ivanova, E. L. Dadali, V. P. Fedotov, S. A. Kurbatov, G. E. Rudenskaya, T. N. Proskokova and A. V. Polyakov.
Genetika. 2012 Sep.


Phenotype-optimized sequence ensembles substantially improve prediction of disease-causing mutation in cystic fibrosis.

Masica DL, Sosnay PR, Cutting GR, Karchin R.
Hum Mutat. 2012 Aug.


Newborn screening for cystic fibrosis: Polish 4 years’ experience with CFTR sequencing strategy.

Sobczynska-Tomaszewska A, Oltarzewski M, Czerska K, Wertheim-Tysarowska K, Sands D, Walkowiak J, Bal J, Mazurczak T.
Eur J Hum Genet. 2012 Aug.


CDKL5 gene status in female patients with epilepsy and Rett-like features: two new mutations in the catalytic domain.

Maortua H, Martínez-Bouzas C, Calvo MT, Domingo MR, Ramos F, García-Ribes A, Martínez MJ, López-Aríztegui MA, Puente N, Rubio I, Tejada MI.
BMC Med Genet. 2012 Aug.


cblE-Type Homocystinuria Presenting with Features of Haemolytic-Uremic Syndrome in the Newborn Period.

Daniel Palanca, Angels Garcia-Cazorla, Jessica Ortiz, Cristina Jou, Victoria Cusí, Mariona Suñol, Teresa Toll, Belén Perez, Aida Ormazabal and Brian Fowler, et al.
JIMD Reports – Case and Research Reports. 2012 May.


A Novel CRYBB2 Missense Mutation Causing Congenital Autosomal Dominant Cataract in an Italian Family.

Faletra F, d’Adamo AP, Pensiero S, Athanasakis E, Catalano D, Bruno I, Gasparini P.
Ophthalmic Genet. 2012 Jul.


A DYNC1H1 mutation causes a dominant spinal muscular atrophy with lower extremity predominance.

Tsurusaki Y, Saitoh S, Tomizawa K, Sudo A, Asahina N, Shiraishi H, Ito JI, Tanaka H, Doi H, Saitsu H, Miyake N, Matsumoto N.
Neurogenetics. 2012 Jul.


A new mutational mechanism for hypertrophic cardiomyopathy.

Pezzoli L, Sana ME, Ferrazzi P, Iascone M.
Gene. 2012 Jul.


Mutation spectrum and inhibitor risk in 100 Korean patients with severe haemophilia A.

Kim HJ, Chung HS, Kim SK, Yoo KY, Jung SY, Park IA, Lee KO, Kim SH, Kim HJ.
Haemophilia. 2012 Jun.


Feasibility of nonsense mutation readthrough as a novel therapeutical approach in propionic acidemia.

Sánchez-Alcudia R, Pérez B, Ugarte M, Desviat LR.
Hum Mutat. 2012 Jun.


Screening for NDP Mutations in 44 Unrelated Patients with Familial Exudative Vitreoretinopathy or Norrie Disease.

Yang H, Li S, Xiao X, Guo X, Zhang Q.
Curr Eye Res. 2012 May.


Hereditary tyrosinaemia type I in Norway: Incidence and three novel small deletions in the fumarylacetoacetase gene.

Bliksrud YT, Brodtkorb E, Backe PH, Woldseth B, Rootwelt H.
Scand J Clin Lab Invest. 2012 May.


Paralogous annotation of disease-causing variants in Long QT syndrome genes.

Ware JS, Walsh R, Cunningham F, Birney E, Cook SA.
Hum Mutat. 2012 May.


Mutation Analysis of NPHS1 in a Worldwide Cohort of Congenital Nephrotic Syndrome Patients.

Ovunc B, Ashraf S, Vega-Warner V, Bockenhauer D, Soliman Elshakhs NA, Joseph M, Hildebrandt F. Nephron
Clin Pract. 2012 May.


Acute kidney injury in two children caused by renal hypouricaemia type 2.

Stiburkova B, Taylor J, Marinaki AM, Sebesta I.
Pediatr Nephrol. 2012 Apr.


Insertion of an SVA element, a nonautonomous retrotransposon, in PMS2 intron 7 as a novel cause of lynch syndrome.

van der Klift HM, Tops CM, Hes FJ, Devilee P, Wijnen JT.
Hum Mutat. 2012 Mar.


Functional analysis of variant lysosomal acid glycosidases of Anderson-Fabry and Pompe disease in a human embryonic kidney epithelial cell line (HEK 293 T).

Ebrahim HY, Baker RJ, Mehta AB, Hughes DA.
J Inherit Metab Dis. 2012 Mar.


UMD-DYSF, a novel locus specific database for the compilation and interactive analysis of mutations in the dysferlin gene.

Blandin G, Beroud C, Labelle V, Nguyen K, Wein N, Hamroun D, Williams B, Monnier N, Rufibach LE, Urtizberea JA, Cau P, Bartoli M, Lévy N, Krahn M.
Hum Mutat. 2012 Mar.


Mutations in GRIP1 cause Fraser syndrome.

Vogel MJ, van Zon P, Brueton L, Gijzen M, van Tuil MC, Cox P, Schanze D, Kariminejad A, Ghaderi-Sohi S, Blair E, Zenker M, Scambler PJ, Ploos van Amstel HK, van Haelst MM.
J Med Genet. 2012 May.


An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia.

Dias C, Sincan M, Cherukuri PF, Rupps R, Huang Y, Briemberg H, Selby K, Mullikin JC, Markello TC, Adams DR, Gahl WA, Boerkoel CF
Hum Mutat. 2012 Apr.


Interlocus gene conversion events introduce deleterious mutations into at least 1% of human genes associated with inherited disease.

Casola C, Zekonyte U, Phillips AD, Cooper DN, Hahn MW.
Genome Res. 2012 Mar.


Personalized medicine switching from insulin to sulfonylurea in permanent neonatal diabetes mellitus dictated by a novel activating ABCC8 mutation.

Mak CM, Lee CY, Lam CW, Siu WK, Hung VC, Chan AY.
Diagn Mol Pathol. 2012 Mar.


A family of oculofaciocardiodental syndrome (OFCD) with a novel BCOR mutation and genomic rearrangements involving NHS.

Kondo Y, Saitsu H, Miyamoto T, Nishiyama K, Tsurusaki Y, Doi H, Miyake N, Ryoo NK, Kim JH, Yu YS, Matsumoto N.
J Hum Genet. 2012 Mar.


Rapid and efficient human mutation detection using a bench-top next-generation DNA sequencer.

Jiang Q, Turner T, Sosa MX, Rakha A, Arnold S, Chakravarti A.
Hum Mutat. 2012 Jan.


Delayed diagnosis of adrenal hypoplasia congenita in a patient with a new mutation in the NR0B1 gene.

Esden-Tempska Z, Lewczuk A, Tobias ES, Borozdin W, Kohlhase J, Sworczak K.
J Pediatr Endocrinol Metab. 2012.


Evolutionary dynamics of human autoimmune disease genes and malfunctioned immunological genes.

Podder S, Ghosh TC.
BMC Evol Biol. 2012 Jan.


A recurrent mutation in GUCY2D associated with autosomal dominant cone dystrophy in a Chinese family.

Xiao X, Guo X, Jia X, Li S, Wang P, Zhang Q
Molecular Vision 2011.


Next-generation genetic testing for retinitis pigmentosa.

Neveling K, Collin RW, Gilissen C, van Huet RA, Visser L, Kwint MP, Gijsen SJ, Zonneveld MN, Wieskamp N, de Ligt J, Siemiatkowska AM, Hoefsloot LH, Buckley MF, Kellner U, Branham KE, den Hollander AI, Hoischen A, Hoyng C, Klevering BJ, van den Born LI, Veltman JA, Cremers FP, Scheffer H
Hum Mutat. 2012.


Supercentenarian genomes give a few clues to extreme human longevity.

Sebastiani, P., Riva, A., Montano, M., Pham, P., Torkamani, A., Scherba, E., Benson, G., Milton, J., Baldwin, C., Andersen, S., Schork, N., Steinberg, M., & Perls, T.
Front Genet. 2011.


Mutation in the CPC motif-containing 6th transmembrane domain affects intracellular localization, trafficking and copper transport efficiency of ATP7A protein in mosaic mutant mice–an animal model of Menkes disease.

Lenartowicz M, Grzmil P, Shoukier M, Starzyński R, Marciniak M, Lipiński P
Metallomics. 2012.


Genome sequencing and comparison of two nonhuman primate animal models, the cynomolgus and Chinese rhesus macaques.

Yan G, Zhang G, Fang X, Zhang Y, Li C, Ling F, Cooper DN, Li Q, Li Y, van Gool AJ, Du H, Chen J, Chen R, Zhang P, Huang Z, Thompson JR, Meng Y, Bai Y, Wang J, Zhuo M, Wang T, Huang Y, Wei L, Li J, Wang Z, Hu H, Yang P, Le L, Stenson PD, Li B, Liu X, Ball EV, An N, Huang Q, Zhang Y, Fan W, Zhang X, Li Y, Wang W, Katze MG, Su B, Nielsen R, Yang H, Wang J, Wang X, Wang J.
Nat Biotechnol. 2011.


The functional spectrum of low-frequency coding variation.

Marth GT, Yu F, Indap AR, Garimella K, Gravel S, Leong WF, Tyler-Smith C, Bainbridge M, Blackwell T, Zheng-Bradley X, Chen Y, Challis D, Clarke L, Ball EV, Cibulskis K, Cooper DN, Fulton B, Hartl C, Koboldt D, Muzny D, Smith R, Sougnez C, Stewart C, Ward A, Yu J, Xue Y, Altshuler D, Bustamante CD, Clark AG, Daly M, Depristo M, Flicek P, Gabriel S, Mardis E, Palotie A, Gibbs R
Genome Biol. 2011 Sep.


A novel missense mutation in the high mobility group domain of SRY drastically reduces its DNA-binding capacity and causes paternally transmitted 46,XY complete gonadal dysgenesis.

Filges I, Kunz C, Miny P, Boesch N, Szinnai G, Wenzel F, Tschudin S, Zumsteg U, Heinimann K.
Fertil Steril. 2011.


Six novel mutations in the myophosphorylase gene in patients with McArdle disease and a family with pseudo-dominant inheritance pattern.

Wu Y, Weber JL, Vladutiu GD, Tarnopolsky MA.
Mol Genet Metab. 2011.


Isolated oligodontia associated with mutations in EDARADD, AXIN2, MSX1, and PAX9 genes.

Bergendal B, Klar J, Stecksén-Blicks C, Norderyd J, Dahl N.
Am J Med Genet A 2011 Jul;155A(7):1616-22.


A novel mucopolysaccharidosis type I associated splice site mutation and IDUA splice variants.

Bremer S, Ohlsson A, Brodtkorb E, Rootwelt H, Rootwelt T, Woldseth B, Mørkrid L.
Mol Genet Metab. 2011, 104:289-94


Late-onset inversa recessive dystrophic epidermolysis bullosa caused by glycine substitutions in collagen type VII.

Leverkus M, Ambach A, Hoefeld-Fegeler M, Kohlhase J, Schmidt E, Schumann H, Has C, Gollnick H.
Br J Dermatol. 2011 May.


An excess of G over C nucleotides in mutagenesis of human genetic diseases.

Xiao L, Sun W, Zhang J, Zhou Y, Chen L, Gao H, Sirois P, Li K.
Mol Biotechnol 2011 May;48(1):1-6


Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis.

Erlich Y, Edvardson S, Hodges E, Zenvirt S, Thekkat P, Shaag A, Dor T, Hannon GJ, Elpeleg O.
Genome Res 2011 May;21(5):658-64


Novel homozygous insertion in SLC2A9 gene caused renal hypouricemia.

Stiburkova B, Ichida K, Sebesta I.
Mol Genet Metab 2011 Apr;102(4):430-5


The inversa type of recessive dystrophic epidermolysis bullosa is caused by specific arginine and glycine substitutions in type VII collagen.

van den Akker PC, Mellerio JE, Martinez AE, Liu L, Meijer R, Dopping-Hepenstal PJ, van Essen AJ, Scheffer H, Hofstra RM, McGrath JA, Jonkman MF
J Med Genet. 2011 Mar;48(3):160-7


Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy.

Otto EA, Ramaswami G, Janssen S, Chaki M, Allen SJ, Zhou W, Airik R, Hurd TW, Ghosh AK, Wolf MT, Hoppe B, Neuhaus TJ, Bockenhauer D, Milford DV, Soliman NA, Antignac C, Saunier S, Johnson CA, Hildebrandt F
J Med Genet. 2011 Feb;48(2):105-16


Harderoporphyria due to homozygosity for coproporphyrinogen oxidase missense mutation H327R.
Hasanoglu A, Balwani M, Kasapkara CS, Ezgü FS, Okur I, Tümer L, Cakmak A, Nazarenko I, Yu C, Clavero S, Bishop DF, Desnick RJ.J Inherit Metab Dis. 2011 Feb;34(1):225-31


Clinical utility gene card for: Meckel syndrome.
Salonen R, Kestilä M, Bergmann C.
Eur J Hum Genet. 2011


A common pattern of brain MRI imaging in mitochondrial diseases with complex I deficiency.
Lebre AS, Rio M, Faivre d’Arcier L, Vernerey D, Landrieu P, Slama A, Jardel C, Laforêt P, Rodriguez D, Dorison N, Galanaud D, Chabrol B, Paquis-Flucklinger V, Grévent D, Edvardson S, Steffann J, Funalot B, Villeneuve N, Valayannopoulos V, de Lonlay P, Desguerre I, Brunelle F, Bonnefont JP, Rötig A, Munnich A, Boddaert N.
J Med Genet. 2011 Jan;48(1):16-23


Clinical assessment incorporating a personal genome.
Ashley EA, Butte AJ, Wheeler MT, Chen R, Klein TE, Dewey FE, Dudley JT, Ormond KE, Pavlovic A, Morgan AA, Pushkarev D, Neff NF, Hudgins L, Gong L, Hodges LM, Berlin DS, Thorn CF, Sangkuhl K, Hebert JM, Woon M, Sagreiya H, Whaley R, Knowles JW, Chou MF, Thakuria JV, Rosenbaum AM, Zaranek AW, Church GM, Greely HT, Quake SR, Altman RB.
Lancet 2010 May 1;375(9725):1525-35


Sequencing and analysis of an Irish human genome.
Tong P, Prendergast JG, Lohan AJ, Farrington SM, Cronin S, Friel N, Bradley DG, Hardiman O, Evans A, Wilson JF, Loftus B.
Genome Biol. 2010;11(9):R91


Ryanodine receptors: structure, expression, molecular details, and function in calcium release.
Lanner JT, Georgiou DK, Joshi AD, Hamilton SL
Cold Spring Harb Perspect Biol. 2010 Nov;2(11):a003996


A map of human genome variation from population-scale sequencing.
1000 Genomes Project Consortium, Durbin RM, Abecasis GR, Altshuler DL, Auton A, Brooks LD, Durbin RM, Gibbs RA, Hurles ME, McVean GA
Nature. 2010 Oct 28;467(7319):1061-73


Functional and structural analysis of five mutations identified in methylmalonic aciduria cblB type.
Jorge-Finnigan A, Aguado C, Sánchez-Alcudia R, Abia D, Richard E, Merinero B, Gámez A, Banerjee R, Desviat LR, Ugarte M, Pérez B. Hum Mutat. 2010 Sep;31(9):1033-42


The spectrum of SCN5A gene mutations in Spanish Brugada syndrome patients.
García-Castro M, García C, Reguero JR, Miar A, Rubín JM, Alvarez V, Morís C, Coto E.
Rev Esp Cardiol 2010 Jul;63(7):856-9


Mild clinical phenotype of Kindler syndrome associated with late diagnosis and skin cancer.
Has C, Burger B, Volz A, Kohlhase J, Bruckner-Tuderman L, Itin P
Dermatology. 2010;221(4):309-12


Ancient human genome sequence of an extinct Palaeo-Eskimo.
Rasmussen M, Li Y, Lindgreen S, Pedersen JS, Albrechtsen A, Moltke I, Metspalu M, Metspalu E, Kivisild T, Gupta R, Bertalan M, Nielsen K, Gilbert MT, Wang Y, Raghavan M, Campos PF, Kamp HM, Wilson AS, Gledhill A, Tridico S, Bunce M, Lorenzen ED, Binladen J, Guo X, Zhao J, Zhang X, Zhang H, Li Z, Chen M, Orlando L, Kristiansen K, Bak M, Tommerup N, Bendixen C, Pierre TL, Grønnow B, Meldgaard M, Andreasen C, Fedorova SA, Osipova LP, Higham TF, Ramsey CB, Hansen TV, Nielsen FC, Crawford MH, Brunak S, Sicheritz-Pontén T, Villems R, Nielsen R, Krogh A, Wang J, Willerslev E
Nature. 2010 Feb 11;463(7282):757-62


Network-based elucidation of human disease similarities reveals common functional modules enriched for pluripotent drug targets.
Suthram S, Dudley JT, Chiang AP, Chen R, Hastie TJ, Butte AJ
PLoS Comput Biol. 2010 Feb 5;6(2):e1000662


Familial and sporadic porphyria cutanea tarda: characterization and diagnostic strategies.
Aarsand AK, Boman H, Sandberg S
Clin Chem. 2009 Apr;55(4):795-803


Structural bioinformatics analysis of disease-related mutations.
Seong-Jin Park, Sangho Oh, Daeui Park and Jong Bhak
Genomics & Informatics 2008 6(3): 142-146


The diploid genome sequence of an individual human.
Levy S, Sutton G, Ng PC, Feuk L, Halpern AL, Walenz BP, Axelrod N, Huang J, Kirkness EF, Denisov G, Lin Y, MacDonald JR, Pang AW, Shago M, Stockwell TB, Tsiamouri A, Bafna V, Bansal V, Kravitz SA, Busam DA, Beeson KY, McIntosh TC, Remington KA, Abril JF, Gill J, Borman J, Rogers YH, Frazier ME, Scherer SW, Strausberg RL, Venter JC
PLoS Biol. 2007 Sep.

BIOBASE Publications

Elucidating Common Structural Features of Human Pathogenic Variations Using Large-Scale Atomic-Resolution Protein Networks.

Das J1, Lee HR, Sagar A, Fragoza R, Liang J, Wei X, Wang X, Mort M, Stenson PD, Cooper DN, Yu H.
Hum Mutat. 2014 Mar 5.


MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.

Mort M, Sterne-Weiler T, Li B, Ball EV, Cooper DN, Radivojac P, Sanford JR, Mooney SD.
Genome Biol 15:R19, 2014.


Impact of human pathogenic micro-insertions and micro-deletions on post-transcriptional regulation.

Zhang X1, Lin H, Zhao H, Hao Y, Mort M, Cooper DN, Zhou Y, Liu Y.
Hum Mol Genet. 2014 Jan 31.


The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine.

Stenson PD, Mort M, Ball EV, Shaw K, Phillips AD, Cooper DN.
Hum Genet. 2013 Sep 28.


Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.

Cooper DN, Krawczak M, Polychronakos C, Tyler-Smith C, Kehrer-Sawatzki H.
Hum Genet. 2013 Oct.


Identifying Mendelian disease genes with the variant effect scoring tool.

Carter H, Douville C, Stenson PD, Cooper DN, Karchin R.
BMC Genomics. 2013.


Guanine Holes Are Prominent Targets for Mutation in Cancer and Inherited Disease.

Albino Bacolla, Nuri A. Temiz, Ming Yi, Joseph Ivanic, Regina Z. Cer, Duncan E. Donohue, Edward V. Ball, Uma S. Mudunuri, Guliang Wang, Aklank Jain,   Natalia Volfovsky,  Brian T. Luke,  Robert M. Stephens, David N. Cooper,  Jack R. Collins, Karen M. Vasquez
PLoS Genetics, 2013.


From the periphery to centre stage: de novo single nucleotide variants play a key role in human genetic disease.

Ku CS, Tan EK, Cooper DN.
J Med Genet. 2013 Feb 9.


CRAVAT: cancer-related analysis of variants toolkit.

Douville C, Carter H, Kim R, Niknafs N, Diekhans M, Stenson PD, Cooper DN, Ryan M, Karchin R.
Bioinformatics. 2013 Feb 5.


Predicting the Functional, Molecular, and Phenotypic Consequences of Amino Acid Substitutions using Hidden Markov Models.

Shihab HA, Gough J, Cooper DN, Stenson PD, Barker GL, Edwards KJ, Day IN, Gaunt TR.
Hum Mutat. 2013.


Deleterious- and Disease-Allele Prevalence in Healthy Individuals: Insights from Current Predictions, Mutation Databases, and Population-Scale Re-sequencing.

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Yali Xue, Yuan Chen, Qasim Ayub, Ni Huang, Edward V. Ball, Matthew Mort, Andrew D. Phillips, Katy Shaw, Peter D. Stenson, David N. Cooper, Chris Tyler-Smith, and the 1000 Genomes Project Consortium.
American Journal of Human Genetics. 2012 December.


The Human Gene Mutation Database (HGMD) and its exploitation in the fields of personalized genomics and molecular evolution.

Stenson PD, Ball EV, Mort M, Phillips AD, Shaw K, Cooper DN.
Curr Protoc Bioinformatics. 2012 September.


A systematic survey of loss-of-function variants in human protein-coding genes.
MacArthur DG, Balasubramanian S, Frankish A, Huang N, Morris J, Walter K, Jostins L, Habegger L, Pickrell JK, Montgomery SB, Albers CA, Zhang ZD, Conrad DF, Lunter G, Zheng H, Ayub Q, DePristo MA, Banks E, Hu M, Handsaker RE, Rosenfeld JA, Fromer M, Jin M, Mu XJ, Khurana E, Ye K, Kay M, Saunders GI, Suner MM, Hunt T, Barnes IH, Amid C, Carvalho-Silva DR, Bignell AH, Snow C, Yngvadottir B, Bumpstead S, Cooper DN, Xue Y, Romero IG; 1000 Genomes Project Consortium, Wang J, Li Y, Gibbs RA, McCarroll SA, Dermitzakis ET, Pritchard JK, Barrett JC, Harrow J, Hurles ME, Gerstein MB, Tyler-Smith C.
Science. 2012 February.


Single base-pair substitutions at the translation initiation sites of human genes as a cause of inherited disease.

Wolf A, Caliebe A, Thomas NS, Ball EV, Mort M, Stenson PD, Krawczak M, Cooper DN.
Hum Mutat. 2011 October.


On the sequence-directed nature of human gene mutation: The role of genomic architecture and the local DNA sequence environment in mediating gene mutations underlying human inherited disease.
Cooper DN, Bacolla A, Férec C, Vasquez KM, Kehrer-Sawatzki H, Chen JM.
Hum Mutat. 2011 October.


Loss of exon identity is a common mechanism of human inherited disease.
Timothy Sterne-Weiler,  Jonathan Howard, Matthew Mort, David N. Cooper, Jeremy R. Sanford
Genome Res. 2011 July.


Chromosomal distribution of disease genes in the human genome.
Cooper DN, Ball EV, Mort M.
Genet Test Mol Biomarkers. 2010 August.


Genes, mutations, and human inherited disease at the dawn of the age of personalized genomics.
Cooper DN, Chen JM, Ball EV, Howells K, Mort M, Phillips AD, Chuzhanova N, Krawczak M, Kehrer-Sawatzki H, Stenson PD.
Hum Mutat. 2010 June.


The Human Gene Mutation Database: 2008 update.
Stenson PD, Mort M, Ball EV, Howells K, Phillips AD, Thomas NS, Cooper DN.
Genome Med. 2009 January.


The Human Gene Mutation Database (HGMD) and its exploitation in the study of mutational mechanisms.
Cooper DN, Stenson PD, Chuzhanova NA.
Curr Protoc Bioinformatics. 2006 January.