HGMD

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.

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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

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

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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A new mutational mechanism for hypertrophic cardiomyopathy.

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

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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.

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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.

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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.

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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.

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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.

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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.

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

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

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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

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

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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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

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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.

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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

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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

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Novel homozygous insertion in SLC2A9 gene caused renal hypouricemia.

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

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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

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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

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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