Please wait a minute...
Frontiers of Medicine

ISSN 2095-0217

ISSN 2095-0225(Online)

CN 11-5983/R

Postal Subscription Code 80-967

2018 Impact Factor: 1.847

Front Med    2014, Vol. 8 Issue (1) : 42-57     DOI: 10.1007/s11684-014-0303-9
Exome sequencing greatly expedites the progressive research of Mendelian diseases
Xuejun Zhang()
Download: PDF(278 KB)   HTML
Export: BibTeX | EndNote | Reference Manager | ProCite | RefWorks

The advent of whole-exome sequencing (WES) has facilitated the discovery of rare structure and functional genetic variants. Combining exome sequencing with linkage studies is one of the most efficient strategies in searching disease genes for Mendelian diseases. WES has achieved great success in the past three years for Mendelian disease genetics and has identified over 150 new Mendelian disease genes. We illustrate the workflow of exome capture and sequencing to highlight the advantages of WES. We also indicate the progress and limitations of WES that can potentially result in failure to identify disease-causing mutations in part of patients. With an affordable cost, WES is expected to become the most commonly used tool for Mendelian disease gene identification. The variants detected cumulatively from previous WES studies will be widely used in future clinical services.

Keywords genetics      whole-exome sequencing      Mendelian disease      disease gene     
Corresponding Authors: Zhang Xuejun,   
Issue Date: 26 April 2014
URL:     OR
Fig.1  Flowchart of variant screening.
YearDisorderInheritanceIdentified geneReference
Kabuki syndromeADMLL2[17]
Amyotrophic lateral sclerosisADVCP[18]
Spinocerebellar ataxiasADTGM6[19]
Miller syndromeARDHODH[2]
Brown-Vialetto-van Laere syndromeARC20orf54[21]
Fowler syndromeARFLVCR2[22]
Retinal-renal ciliopathyARSDCCAG8[23]
Van Den Ende-Gupta syndromeARSCARF2[24]
Kaposi sarcomaARSTIM1[25]
Autoimmune lymphoproliferative syndromeARFADD[26]
Nonsyndromic hearing lossARGPSM2[27]
Combined hypolipidemiaARANGPTL3[28]
Perrault syndromeARHSD17B4[29]
Complex I deficiencyARACAD9[30]
Hyperphosphatasia mental retardation syndromeARPIGV[31]
Sensen-brenner syndromeARWDR35[32]
Cerebral cortical malformationsARWDR62[33]
Carnevale, Malpuech, OSA, and Michels syndromesARMASP1[34]
Schinzel-Giedion syndromeARSETBP1[35]
Terminal osseous dysplasiaXLDFLNA[36]
Ohdo syndromeADKAT6B[37]
Primary lymphoedemaADGJC2[38]
Paroxysmal kinesigenicdyskinesiasADPRRT2[39]
Hajdu-Cheney syndromeADNOTCH2[40,41]
Bohring-Opitz syndromeADASXL1[42]
Hereditary diffuse leukoencephalopathy with spheroidsADCSF1R[43]
Spondyloepimetaphyseal dysplasiaADKIF22[44,45]
Adult neuronal ceroid-lipofuscinosisADDNAJC5[46]
KBG syndromeADANKRD11[47]
Dendritic cell, monocyte B, and NKlymphoid deficiencyADGATA-2[48]
Late-onset Parkinson’s diseaseADVPS35[49,50]
Sensory neuropathy with dementia andhearing lossADDNMT1[51]
Dilated cardiomyopathyADBAG3[52]
High myopiaADZNF644[53]
Autosomal dominant retinitis pigmentosaADRPE65[54]
Charcot-Marie-Tooth diseaseADDYNC1H1[55]
Hereditary hypotrichosis simplexADRPL21[56]
Geleophysic and acromicric dysplasiaADFBN1[57]
Myhre syndromeADSMAD4[59]
Inflammatory bowel diseaseADXIAP[60]
Nonsyndromic mental retardationARTECR[61]
Retinitis pigmentosaARDHDDS[62]
Osteogenesis imperfectaARSERPINF1[63]
Skeletal dysplasiaARPOP1[64]
Combined malonic and methylmalonicaciduriaARACSF3[65]
Chondrodysplasia and abnormal joint developmentARIMPAD1[67]
Progeroid syndromeARBANF1[68]
Infantile mitochondrial cardiomyopathyARAARS2[69]
Mosaic variegated aneuploidy syndromeARCEP57[71]
Hypomyelinating leukoencephalopathyARPOLR3A/POLR3B[72]
Spastic ataxia-neuropathy syndromeARAFG3L2[73]
Dilated cardiomyopathyARGATAD1[74]
Gonadal dysgenesisARPSMC3IP[75]
Autosomal recessive progressive external ophthalmoplegiaARRRM2B[76]
Knobloch syndromeARADAMTS18[77]
Spinocerebellar ataxia with psychomotor retardationARSYT14[78]
Adams-Oliver syndromeARDOCK6[79]
Steroid-resistant nephrotic syndromeARMYO1E /NEIL1[80]
Complex bilateral occipital cortical gyration abnormalitiesARLAMC3[81]
Intellectual disabilityARAP4S1/AP4B1/AP4E1[82]
Hypertrophic cardiomyopathyARMRPL3[83]
Retinitis pigmentosaARMAK[84]
3M syndromeARCCDC8[85]
Seckel syndromeARCEP152[86]
ADK deficiencyARADK[87]
Nephronophthisis-like nephropathyARWDR19[88]
Psuedo-Sj?gren-Larsson syndromeARELOVL4[89]
Idiopathic infantile hypercalcemiaARCYP24A1[90]
Gray platelet syndromeARNBEAL2[92]
Immunodeficiency, centromeric instability, and facial anomaliesARZBTB24[93]
Leber congenital amaurosisARKCNJ13[94]
Hereditary spastic paraparesisARKIF1A[95]
Genitopatellar syndromeADKAT6B[97,98]
Floating-Harbor syndromeADSRCAP[100]
Hereditary spastic paraplegia type 12ADRTN2[101]
Microcephaly associated with lymphedemaADKIF11[102]
Congenital mirror movementsADRAD51[103]
Mandibulofacialdysostosis with microcephalyADEFTUD2[104]
Limb-girdle muscular dystrophyADDNAJB6[105]
Aplastic anemia and myelodysplasiaADSRP72[106]
Olmsted syndromeADTRPV3[108]
Nager syndromeADSF3B4[109]
Multicantric carpotarsal osteolysisADMAFB[110]
Coffin-Siris syndromeADSMARCB1/ ARID1B[111,112]
Pulmonary arterial hypertensionADCAV1[113]
Autosomal dominant polycystic kidney diseaseADPKD1/ PKD2[114]
Craniocervical dystoniaADANO3[115]
Hereditary motor neuropathyADSLC5A7[116]
Nocturnal frontal lobe epilepsyADKCNT1[117]
Nonsyndromic progressive sensorineural hearing lossADDFNA9[118]
Osteogenesis imperfecta type V with hyperplastic callusADIFITM5[120]
Punctate palmoplantar keratodermaADAAGAB[121,122]
Marie Unna hereditary hypotrichosisADEPS8L3[123]
Disseminated superficial actinic porokeratosisADMVK[124]
Acne inversaADNCSTN[125]
Split hand and foot malformationARDLX5[127]
Global eye developmental defectsARATOH7[128]
Primary hypertrophic osteoarthropathyARSLCO2A1[129]
Bartsocas-Papas syndromeARRIPK4[130]
Familial aplastic anemiaARMPL[131]
Peeling skin syndromeARCHST8[132]
Sengers syndromeARAGK[133]
Congenital disorders of glycosylationARDDOST[134]
Congenital stationary night blindnessARGPR179[135]
Autosomal recessive primary microcephalyARCEP135[136]
Familial diarrheaARGUCY2C[137]
Infantile cerebellar retinal degenerationARACO2[138]
Joubert syndromeARC5ORF42[139]
Cerebroretinal microcephaly with calcifications and cystsARCTC1[140]
Kohlschutter-Tonz syndromeARROGDI[141]
UV-sensitive syndromeARUVSSA[142]
Retinitis pigmentosa with late-onset hearing lossARUSH1C[143]
Charcot-Marie-Tooth neuropathyARBSCL2/SH3TC2[144,145]
Pure hair and nail ectodermal dysplasiaARHOXC13[146]
Congenital sydrocephalusARDAPLE[147]
Primary congenital glaucomaARCYP1B1[148]
Usher syndromeARUSH[149]
Teenage-onset progressive myoclonus epilepsyARCLN6[150]
Primary ciliary dyskinesia without randomization of left-right body asymmetryARHYDIN[151]
Brain malformation with periventricular heterotopia, cingulate polymicrogyria, and midbrain tectal hyperplasiaAR/XRFLNB[152]
Stargardt diseaseARABCA4[153]
Skin fragilityXDEXPH5[154]
Aarskog-Scott syndromeXRFGD1[155]
Alternating hemiplegia of childhoodADATP1A3[156]
Idiopathic basal ganglia calcificationAD/ARPDGFRB[159]
Iron-refractory iron-deficiency anemiaARTMPRSS6[160]
Frontotemporal dementia-like syndrome without bone involvementARTREM2[161]
Autosomal recessive complete congenital stationary night blindnessARLRIT3[162]
Postaxial polydactyly type AARZNF141[163]
Fanconi anemiaARSLX4/FANCP[165]
Charcot-Marie-Tooth diseaseXDPDK3[166]
Tab.1  Mendelian disease gene identification by exome sequencing
1 Ng SB, Turner EH, Robertson PD, Flygare SD, Bigham AW, Lee C, Shaffer T, Wong M, Bhattacharjee A, Eichler EE, Bamshad M, Nickerson DA, Shendure J. Targeted capture and massively parallel sequencing of 12 human exomes. Nature 2009; 461(7261): 272-276
doi: 10.1038/nature08250 pmid:19684571
2 Ng SB, Buckingham KJ, Lee C, Bigham AW, Tabor HK, Dent KM, Huff CD, Shannon PT, Jabs EW, Nickerson DA, Shendure J, Bamshad MJ. Exome sequencing identifies the cause of a mendelian disorder. Nat Genet 2010; 42(1): 30-35
doi: 10.1038/ng.499 pmid:19915526
3 Botstein D, Risch N. Discovering genotypes underlying human phenotypes: past successes for Mendelian disease, future approaches for complex disease. Nat Genet 2003; 33(3s Suppl): 228-237
doi: 10.1038/ng1090 pmid:12610532
4 Zhang P, Zhang J, Sheng H, Russo JJ, Osborne B, Buetow K. Gene functional similarity search tool (GFSST). BMC Bioinformatics 2006; 7(1): 135.
doi: 10.1186/1471-2105-7-135 pmid:16536867
5 Hutz JE, Kraja AT, McLeod HL, Province MA. CANDID: a flexible method for prioritizing candidate genes for complex human traits. Genet Epidemiol 2008; 32(8): 779-790
doi: 10.1002/gepi.20346 pmid:18613097
6 McKusick VA. Mendelian Inheritance in Man and its online version, OMIM. Am J Hum Genet 2007; 80(4): 588-604
doi: 10.1086/514346 pmid:17357067
7 Clark MJ, Chen R, Lam HY, Karczewski KJ, Chen R, Euskirchen G, Butte AJ, Snyder M. Performance comparison of exome DNA sequencing technologies. Nat Biotechnol 2011; 29(10): 908-914
doi: 10.1038/nbt.1975 pmid:21947028
8 Teer JK, Mullikin JC. Exome sequencing: the sweet spot before whole genomes. Hum Mol Genet 2010; 19(R2): R145-R151
doi: 10.1093/hmg/ddq333 pmid:20705737
9 Ku CS, Wu M, Cooper DN, Naidoo N, Pawitan Y, Pang B, Iacopetta B, Soong R. Exome versus transcriptome sequencing in identifying coding region variants. Expert Rev Mol Diagn 2012; 12(3): 241-251
doi: 10.1586/erm.12.10 pmid:22468815
10 Bowers J, Mitchell J, Beer E, Buzby PR, Causey M, Efcavitch JW, Jarosz M, Krzymanska-Olejnik E, Kung L, Lipson D, Lowman GM, Marappan S, McInerney P, Platt A, Roy A, Siddiqi SM, Steinmann K, Thompson JF. Virtual terminator nucleotides for next-generation DNA sequencing. Nat Methods 2009; 6(8): 593-595
doi: 10.1038/nmeth.1354 pmid:19620973
11 Eid J, Fehr A, Gray J, Luong K, Lyle J, Otto G, Peluso P, Rank D, Baybayan P, Bettman B, Bibillo A, Bjornson K, Chaudhuri B, Christians F, Cicero R, Clark S, Dalal R, Dewinter A, Dixon J, Foquet M, Gaertner A, Hardenbol P, Heiner C, Hester K, Holden D, Kearns G, Kong X, Kuse R, Lacroix Y, Lin S, Lundquist P, Ma C, Marks P, Maxham M, Murphy D, Park I, Pham T, Phillips M, Roy J, Sebra R, Shen G, Sorenson J, Tomaney A, Travers K, Trulson M, Vieceli J, Wegener J, Wu D, Yang A, Zaccarin D, Zhao P, Zhong F, Korlach J, Turner S. Real-time DNA sequencing from single polymerase molecules. Science 2009; 323(5910): 133-138
doi: 10.1126/science.1162986 pmid:19023044
12 Gilissen C, Hoischen A, Brunner HG, Veltman JA. Disease gene identification strategies for exome sequencing. Eur J Hum Genet 2012; 20(5): 490-497
doi: 10.1038/ejhg.2011.258 pmid:22258526
13 Bamshad MJ, Ng SB, Bigham AW, Tabor HK, Emond MJ, Nickerson DA, Shendure J. Exome sequencing as a tool for Mendelian disease gene discovery. Nat Rev Genet 2011; 12(11): 745-755
doi: 10.1038/nrg3031 pmid:21946919
14 Kahvejian A, Quackenbush J, Thompson JF. What would you do if you could sequence everything? Nat Biotechnol 2008; 26(10): 1125-1133
doi: 10.1038/nbt1494 pmid:18846086
15 Gnirke A, Melnikov A, Maguire J, Rogov P, LeProust EM, Brockman W, Fennell T, Giannoukos G, Fisher S, Russ C, Gabriel S, Jaffe DB, Lander ES, Nusbaum C. Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing. Nat Biotechnol 2009; 27(2): 182-189
doi: 10.1038/nbt.1523 pmid:19182786
16 International HapMap 3 Consortium; Altshuler DM, Gibbs RA, Peltonen L, Altshuler DM, Gibbs RA, Peltonen L, Dermitzakis E, Schaffner SF, Yu F, Peltonen L, Dermitzakis E, Bonnen PE, Altshuler DM, Gibbs RA, de Bakker PI, Deloukas P, Gabriel SB, Gwilliam R, Hunt S, Inouye M, Jia X, Palotie A, Parkin M, Whittaker P, Yu F, Chang K, Hawes A, Lewis LR, Ren Y, Wheeler D, Gibbs RA, Muzny DM, Barnes C, Darvishi K, Hurles M, Korn JM, Kristiansson K, Lee C, McCarrol SA, Nemesh J, Dermitzakis E, Keinan A, Montgomery SB, Pollack S, Price AL, Soranzo N, Bonnen PE, Gibbs RA, Gonzaga-Jauregui C, Keinan A, Price AL, Yu F, Anttila V, Brodeur W, Daly MJ, Leslie S, McVean G, Moutsianas L, Nguyen H, Schaffner SF, Zhang Q, Ghori MJ, McGinnis R, McLaren W, Pollack S, Price AL, Schaffner SF, Takeuchi F, Grossman SR, Shlyakhter I, Hostetter EB, Sabeti PC, Adebamowo CA, Foster MW, Gordon DR, Licinio J, Manca MC, Marshall PA, Matsuda I, Ngare D, Wang VO, Reddy D, Rotimi CN, Royal CD, Sharp RR, Zeng C, Brooks LD, McEwen JE. Integrating common and rare genetic variation in diverse human populations. Nature 2010; 467(7311): 52-58
doi: 10.1038/nature09298 pmid:20811451
17 Ng SB, Bigham AW, Buckingham KJ, Hannibal MC, McMillin MJ, Gildersleeve HI, Beck AE, Tabor HK, Cooper GM, Mefford HC, Lee C, Turner EH, Smith JD, Rieder MJ, Yoshiura K, Matsumoto N, Ohta T, Niikawa N, Nickerson DA, Bamshad MJ, Shendure J. Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. Nat Genet 2010; 42(9): 790-793
doi: 10.1038/ng.646 pmid:20711175
18 Johnson JO, Mandrioli J, Benatar M, Abramzon Y, Van Deerlin VM, Trojanowski JQ, Gibbs JR, Brunetti M, Gronka S, Wuu J, Ding J, McCluskey L, Martinez-Lage M, Falcone D, Hernandez DG, Arepalli S, Chong S, Schymick JC, Rothstein J, Landi F, Wang YD, Calvo A, Mora G, Sabatelli M, Monsurrò MR, Battistini S, Salvi F, Spataro R, Sola P, Borghero G, Galassi G, Scholz SW, Taylor JP, Restagno G, Chiò A, Traynor BJ; Collaborators: Giannini F, Ricci C, Moglia C, Ossola I, Canosa A, Gallo S, Tedeschi G, Sola P, Bartolomei I, Marinou K, Papetti L, Conte A, Luigetti M, La Bella V, Paladino P, Caponnetto C, Volanti P, Marrosu MG, Murru MR. Exome sequencing reveals VCP mutations as a cause of familial ALS. Neuron 2010; 68(5): 857-864
doi: 10.1016/j.neuron.2010.11.036 pmid:21145000
19 Wang JL, Yang X, Xia K, Hu ZM, Weng L, Jin X, Jiang H, Zhang P, Shen L, Guo JF, Li N, Li YR, Lei LF, Zhou J, Du J, Zhou YF, Pan Q, Wang J, Wang J, Li RQ, Tang BS. TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing. Brain 2010; 133(Pt 12): 3510-3518
doi: 10.1093/brain/awq323 pmid:21106500
20 Sobreira NL, Cirulli ET, Avramopoulos D, Wohler E, Oswald GL, Stevens EL, Ge D, Shianna KV, Smith JP, Maia JM, Gumbs CE, Pevsner J, Thomas G, Valle D, Hoover-Fong JE, Goldstein DB. Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene. PLoS Genet 2010; 6(6): e1000991
doi: 10.1371/journal.pgen.1000991 pmid:20577567
21 Johnson JO, Gibbs JR, Van Maldergem L, Houlden H, Singleton AB. Exome sequencing in Brown-Vialetto-van Laere syndrome. Am J Hum Genet 2010; 87(4): 567-569 , author reply 569-570
doi: 10.1016/j.ajhg.2010.05.021 pmid:20920669
22 Lalonde E, Albrecht S, Ha KC, Jacob K, Bolduc N, Polychronakos C, Dechelotte P, Majewski J, Jabado N. Unexpected allelic heterogeneity and spectrum of mutations in Fowler syndrome revealed by next-generation exome sequencing. Hum Mutat 2010; 31(8): 918-923
doi: 10.1002/humu.21293 pmid:20518025
23 Otto EA, Hurd TW, Airik R, Chaki M, Zhou W, Stoetzel C, Patil SB, Levy S, Ghosh AK, Murga-Zamalloa CA, van Reeuwijk J, Letteboer SJ, Sang L, Giles RH, Liu Q, Coene KL, Estrada-Cuzcano A, Collin RW, McLaughlin HM, Held S, Kasanuki JM, Ramaswami G, Conte J, Lopez I, Washburn J, Macdonald J, Hu J, Yamashita Y, Maher ER, Guay-Woodford LM, Neumann HP, Obermüller N, Koenekoop RK, Bergmann C, Bei X, Lewis RA, Katsanis N, Lopes V, Williams DS, Lyons RH, Dang CV, Brito DA, Dias MB, Zhang X, Cavalcoli JD, Nürnberg G, Nürnberg P, Pierce EA, Jackson PK, Antignac C, Saunier S, Roepman R, Dollfus H, Khanna H, Hildebrandt F. Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy. Nat Genet 2010; 42(10): 840-850
doi: 10.1038/ng.662 pmid:20835237
24 Anastasio N, Ben-Omran T, Teebi A, Ha KC, Lalonde E, Ali R, Almureikhi M, Der Kaloustian VM, Liu J, Rosenblatt DS, Majewski J, Jerome-Majewska LA. Mutations in SCARF2 are responsible for Van Den Ende-Gupta syndrome. Am J Hum Genet 2010; 87(4): 553-559
doi: 10.1016/j.ajhg.2010.09.005 pmid:20887961
25 Byun M, Abhyankar A, Lelarge V, Plancoulaine S, Palanduz A, Telhan L, Boisson B, Picard C, Dewell S, Zhao C, Jouanguy E, Feske S, Abel L, Casanova JL. Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcoma. J Exp Med 2010; 207(11): 2307-2312
doi: 10.1084/jem.20101597 pmid:20876309
26 Bolze A, Byun M, McDonald D, Morgan NV, Abhyankar A, Premkumar L, Puel A, Bacon CM, Rieux-Laucat F, Pang K, Britland A, Abel L, Cant A, Maher ER, Riedl SJ, Hambleton S, Casanova JL. Whole-exome-sequencing-based discovery of human FADD deficiency. Am J Hum Genet 2010; 87(6): 873-881
doi: 10.1016/j.ajhg.2010.10.028 pmid:21109225
27 Walsh T, Shahin H, Elkan-Miller T, Lee MK, Thornton AM, Roeb W, Abu Rayyan A, Loulus S, Avraham KB, King MC, Kanaan M. Whole exome sequencing and homozygosity mapping identify mutation in the cell polarity protein GPSM2 as the cause of nonsyndromic hearing loss DFNB82. Am J Hum Genet 2010; 87(1): 90-94
doi: 10.1016/j.ajhg.2010.05.010 pmid:20602914
28 Musunuru K, Pirruccello JP, Do R, Peloso GM, Guiducci C, Sougnez C, Garimella KV, Fisher S, Abreu J, Barry AJ, Fennell T, Banks E, Ambrogio L, Cibulskis K, Kernytsky A, Gonzalez E, Rudzicz N, Engert JC, DePristo MA, Daly MJ, Cohen JC, Hobbs HH, Altshuler D, Schonfeld G, Gabriel SB, Yue P, Kathiresan S. Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia. N Engl J Med 2010; 363(23): 2220-2227
doi: 10.1056/NEJMoa1002926 pmid:20942659
29 Pierce SB, Walsh T, Chisholm KM, Lee MK, Thornton AM, Fiumara A, Opitz JM, Levy-Lahad E, Klevit RE, King MC. Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome. Am J Hum Genet 2010; 87(2): 282-288
doi: 10.1016/j.ajhg.2010.07.007 pmid:20673864
30 Haack TB, Danhauser K, Haberberger B, Hoser J, Strecker V, Boehm D, Uziel G, Lamantea E, Invernizzi F, Poulton J, Rolinski B, Iuso A, Biskup S, Schmidt T, Mewes HW, Wittig I, Meitinger T, Zeviani M, Prokisch H. Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency. Nat Genet 2010; 42(12): 1131-1134
doi: 10.1038/ng.706 pmid:21057504
31 Krawitz PM, Schweiger MR, R?delsperger C, Marcelis C, K?lsch U, Meisel C, Stephani F, Kinoshita T, Murakami Y, Bauer S, Isau M, Fischer A, Dahl A, Kerick M, Hecht J, K?hler S, J?ger M, Grünhagen J, de Condor BJ, Doelken S, Brunner HG, Meinecke P, Passarge E, Thompson MD, Cole DE, Horn D, Roscioli T, Mundlos S, Robinson PN. Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome. Nat Genet 2010; 42(10): 827-829
doi: 10.1038/ng.653 pmid:20802478
32 Gilissen C, Arts HH, Hoischen A, Spruijt L, Mans DA, Arts P, van Lier B, Steehouwer M, van Reeuwijk J, Kant SG, Roepman R, Knoers NV, Veltman JA, Brunner HG. Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome. Am J Hum Genet 2010; 87(3): 418-423
33 Bilgüvar K, Oztürk AK, Louvi A, Kwan KY, Choi M, Tatli B, Yalnizo?lu D, Tüysüz B, Ca?layan AO, G?kben S, Kaymak?alan H, Barak T, Bakircio?lu M, Yasuno K, Ho W, Sanders S, Zhu Y, Yilmaz S, Din?er A, Johnson MH, Bronen RA, Ko?er N, Per H, Mane S, Pamir MN, Yal?inkaya C, Kumanda? S, Top?u M, Ozmen M, Sestan N, Lifton RP, State MW, Günel M. Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations. Nature 2010; 467(7312): 207-210
doi: 10.1038/nature09327 pmid:20729831
34 Sirmaci A, Walsh T, Akay H, Spiliopoulos M, Sakalar YB, Hasanefendio?lu-Bayrak A, Duman D, Farooq A, King MC, Tekin M. MASP1 mutations in patients with facial, umbilical, coccygeal, and auditory findings of Carnevale, Malpuech, OSA, and Michels syndromes. Am J Hum Genet 2010; 87(5): 679-686
doi: 10.1016/j.ajhg.2010.09.018 pmid:21035106
35 Hoischen A, van Bon BW, Gilissen C, Arts P, van Lier B, Steehouwer M, de Vries P, de Reuver R, Wieskamp N, Mortier G, Devriendt K, Amorim MZ, Revencu N, Kidd A, Barbosa M, Turner A, Smith J, Oley C, Henderson A, Hayes IM, Thompson EM, Brunner HG, de Vries BB, Veltman JA. De novo mutations of SETBP1 cause Schinzel-Giedion syndrome. Nat Genet 2010; 42(6): 483-485
doi: 10.1038/ng.581 pmid:20436468
36 Sun Y, Almomani R, Aten E, Celli J, van der Heijden J, Venselaar H, Robertson SP, Baroncini A, Franco B, Basel-Vanagaite L, Horii E, Drut R, Ariyurek Y, den Dunnen JT, Breuning MH. Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA gene. Am J Hum Genet 2010; 87(1): 146-153
doi: 10.1016/j.ajhg.2010.06.008 pmid:20598277
37 Clayton-Smith J, O’Sullivan J, Daly S, Bhaskar S, Day R, Anderson B, Voss AK, Thomas T, Biesecker LG, Smith P, Fryer A, Chandler KE, Kerr B, Tassabehji M, Lynch SA, Krajewska-Walasek M, McKee S, Smith J, Sweeney E, Mansour S, Mohammed S, Donnai D, Black G. Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome. Am J Hum Genet 2011; 89(5): 675-681
doi: 10.1016/j.ajhg.2011.10.008 pmid:22077973
38 Ostergaard P, Simpson MA, Brice G, Mansour S, Connell FC, Onoufriadis A, Child AH, Hwang J, Kalidas K, Mortimer PS, Trembath R, Jeffery S. Rapid identification of mutations in GJC2 in primary lymphoedema using whole exome sequencing combined with linkage analysis with delineation of the phenotype. J Med Genet 2011; 48(4): 251-255
doi: 10.1136/jmg.2010.085563 pmid:21266381
39 Chen WJ, Lin Y, Xiong ZQ, Wei W, Ni W, Tan GH, Guo SL, He J, Chen YF, Zhang QJ, Li HF, Lin Y, Murong SX, Xu J, Wang N, Wu ZY. Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia. Nat Genet 2011; 43(12): 1252-1255
doi: 10.1038/ng.1008 pmid:22101681
40 Simpson MA, Irving MD, Asilmaz E, Gray MJ, Dafou D, Elmslie FV, Mansour S, Holder SE, Brain CE, Burton BK, Kim KH, Pauli RM, Aftimos S, Stewart H, Kim CA, Holder-Espinasse M, Robertson SP, Drake WM, Trembath RC. Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss. Nat Genet 2011; 43(4): 303-305
doi: 10.1038/ng.779 pmid:21378985
41 Isidor B, Lindenbaum P, Pichon O, Bézieau S, Dina C, Jacquemont S, Martin-Coignard D, Thauvin-Robinet C, Le Merrer M, Mandel JL, David A, Faivre L, Cormier-Daire V, Redon R, Le Caignec C. Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis. Nat Genet 2011; 43(4): 306-308
doi: 10.1038/ng.778 pmid:21378989
42 Hoischen A, van Bon BW, Rodríguez-Santiago B, Gilissen C, Vissers LE, de Vries P, Janssen I, van Lier B, Hastings R, Smithson SF, Newbury-Ecob R, Kjaergaard S, Goodship J, McGowan R, Bartholdi D, Rauch A, Peippo M, Cobben JM, Wieczorek D, Gillessen-Kaesbach G, Veltman JA, Brunner HG, de Vries BB. De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome. Nat Genet 2011; 43(8): 729-731
doi: 10.1038/ng.868 pmid:21706002
43 Rademakers R, Baker M, Nicholson AM, Rutherford NJ, Finch N, Soto-Ortolaza A, Lash J, Wider C, Wojtas A, DeJesus-Hernandez M, Adamson J, Kouri N, Sundal C, Shuster EA, Aasly J, MacKenzie J, Roeber S, Kretzschmar HA, Boeve BF, Knopman DS, Petersen RC, Cairns NJ, Ghetti B, Spina S, Garbern J, Tselis AC, Uitti R, Das P, Van Gerpen JA, Meschia JF, Levy S, Broderick DF, Graff-Radford N, Ross OA, Miller BB, Swerdlow RH, Dickson DW, Wszolek ZK. Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids. Nat Genet 2012; 44(2): 200-205
doi: 10.1038/ng.1027 pmid:22197934
44 Boyden ED, Campos-Xavier AB, Kalamajski S, Cameron TL, Suarez P, Tanackovic G, Andria G, Ballhausen D, Briggs MD, Hartley C, Cohn DH, Davidson HR, Hall C, Ikegawa S, Jouk PS, K?nig R, Megarbané A, Nishimura G, Lachman RS, Mortier G, Rimoin DL, Rogers RC, Rossi M, Sawada H, Scott R, Unger S, Valadares ER, Bateman JF, Warman ML, Superti-Furga A, Bonafé L. Recurrent dominant mutations affecting two adjacent residues in the motor domain of the monomeric kinesin KIF22 result in skeletal dysplasia and joint laxity. Am J Hum Genet 2011; 89(6): 767-772
doi: 10.1016/j.ajhg.2011.10.016 pmid:22152678
45 Min BJ, Kim N, Chung T, Kim OH, Nishimura G, Chung CY, Song HR, Kim HW, Lee HR, Kim J, Kang TH, Seo ME, Yang SD, Kim DH, Lee SB, Kim JI, Seo JS, Choi JY, Kang D, Kim D, Park WY, Cho TJ. Whole-exome sequencing identifies mutations of KIF22 in spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type. Am J Hum Genet 2011; 89(6): 760-766
doi: 10.1016/j.ajhg.2011.10.015 pmid:22152677
46 Nosková L, Stránecky V, Hartmannová H, P?istoupilová A, Bare?ová V, Ivánek R, H?lková H, Jahnová H, van der Zee J, Staropoli JF, Sims KB, Tyynel? J, Van Broeckhoven C, Nijssen PC, Mole SE, Elleder M, Kmoch S. Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis. Am J Hum Genet 2011; 89(2): 241-252
doi: 10.1016/j.ajhg.2011.07.003 pmid:21820099
47 Sirmaci A, Spiliopoulos M, Brancati F, Powell E, Duman D, Abrams A, Bademci G, Agolini E, Guo S, Konuk B, Kavaz A, Blanton S, Digilio MC, Dallapiccola B, Young J, Zuchner S, Tekin M. Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia. Am J Hum Genet 2011; 89(2): 289-294
doi: 10.1016/j.ajhg.2011.06.007 pmid:21782149
48 Dickinson RE, Griffin H, Bigley V, Reynard LN, Hussain R, Haniffa M, Lakey JH, Rahman T, Wang XN, McGovern N, Pagan S, Cookson S, McDonald D, Chua I, Wallis J, Cant A, Wright M, Keavney B, Chinnery PF, Loughlin J, Hambleton S, Santibanez-Koref M, Collin M. Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency. Blood 2011; 118(10): 2656-2658
doi: 10.1182/blood-2011-06-360313 pmid:21765025
49 Zimprich A, Benet-Pagès A, Struhal W, Graf E, Eck SH, Offman MN, Haubenberger D, Spielberger S, Schulte EC, Lichtner P, Rossle SC, Klopp N, Wolf E, Seppi K, Pirker W, Presslauer S, Mollenhauer B, Katzenschlager R, Foki T, Hotzy C, Reinthaler E, Harutyunyan A, Kralovics R, Peters A, Zimprich F, Brücke T, Poewe W, Auff E, Trenkwalder C, Rost B, Ransmayr G, Winkelmann J, Meitinger T, Strom TM. A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease. Am J Hum Genet 2011; 89(1): 168-175
doi: 10.1016/j.ajhg.2011.06.008 pmid:21763483
50 Vilari?o-Güell C, Wider C, Ross OA, Dachsel JC, Kachergus JM, Lincoln SJ, Soto-Ortolaza AI, Cobb SA, Wilhoite GJ, Bacon JA, Behrouz B, Melrose HL, Hentati E, Puschmann A, Evans DM, Conibear E, Wasserman WW, Aasly JO, Burkhard PR, Djaldetti R, Ghika J, Hentati F, Krygowska-Wajs A, Lynch T, Melamed E, Rajput A, Rajput AH, Solida A, Wu RM, Uitti RJ, Wszolek ZK, Vingerhoets F, Farrer MJ. VPS35 mutations in Parkinson disease. Am J Hum Genet 2011; 89(1): 162-167
doi: 10.1016/j.ajhg.2011.06.001 pmid:21763482
51 Klein CJ, Botuyan MV, Wu Y, Ward CJ, Nicholson GA, Hammans S, Hojo K, Yamanishi H, Karpf AR, Wallace DC, Simon M, Lander C, Boardman LA, Cunningham JM, Smith GE, Litchy WJ, Boes B, Atkinson EJ, Middha S, B Dyck PJ, Parisi JE, Mer G, Smith DI, Dyck PJ. Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss. Nat Genet 2011; 43(6): 595-600
doi: 10.1038/ng.830 pmid:21532572
52 Norton N, Li D, Rieder MJ, Siegfried JD, Rampersaud E, Züchner S, Mangos S, Gonzalez-Quintana J, Wang L, McGee S, Reiser J, Martin E, Nickerson DA, Hershberger RE. Genome-wide studies of copy number variation and exome sequencing identify rare variants in BAG3 as a cause of dilated cardiomyopathy. Am J Hum Genet 2011; 88(3): 273-282
doi: 10.1016/j.ajhg.2011.01.016 pmid:21353195
53 Shi Y, Li Y, Zhang D, Zhang H, Li Y, Lu F, Liu X, He F, Gong B, Cai L, Li R, Liao S, Ma S, Lin H, Cheng J, Zheng H, Shan Y, Chen B, Hu J, Jin X, Zhao P, Chen Y, Zhang Y, Lin Y, Li X, Fan Y, Yang H, Wang J, Yang Z. Exome sequencing identifies ZNF644 mutations in high myopia. PLoS Genet 2011; 7(6): e1002084
doi: 10.1371/journal.pgen.1002084 pmid:21695231
54 Bowne SJ, Humphries MM, Sullivan LS, Kenna PF, Tam LC, Kiang AS, Campbell M, Weinstock GM, Koboldt DC, Ding L, Fulton RS, Sodergren EJ, Allman D, Millington-Ward S, Palfi A, McKee A, Blanton SH, Slifer S, Konidari I, Farrar GJ, Daiger SP, Humphries P. A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement. Eur J Hum Genet 2011; 19(10): 1074-1081
doi: 10.1038/ejhg.2011.86 pmid:21654732
55 Weedon MN, Hastings R, Caswell R, Xie W, Paszkiewicz K, Antoniadi T, Williams M, King C, Greenhalgh L, Newbury-Ecob R, Ellard S. Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease. Am J Hum Genet 2011; 89(2): 308-312
doi: 10.1016/j.ajhg.2011.07.002 pmid:21820100
56 Zhou C, Zang D, Jin Y, Wu H, Liu Z, Du J, Zhang J. Mutation in ribosomal protein L21 underlies hereditary hypotrichosis simplex. Hum Mutat 2011; 32(7): 710-714
doi: 10.1002/humu.21503 pmid:21412954
57 Le Goff C, Mahaut C, Wang LW, Allali S, Abhyankar A, Jensen S, Zylberberg L, Collod-Beroud G, Bonnet D, Alanay Y, Brady AF, Cordier MP, Devriendt K, Genevieve D, Kiper P?, Kitoh H, Krakow D, Lynch SA, Le Merrer M, Mégarbane A, Mortier G, Odent S, Polak M, Rohrbach M, Sillence D, Stolte-Dijkstra I, Superti-Furga A, Rimoin DL, Topouchian V, Unger S, Zabel B, Bole-Feysot C, Nitschke P, Handford P, Casanova JL, Boileau C, Apte SS, Munnich A, Cormier-Daire V. Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias. Am J Hum Genet 2011; 89(1): 7-14
doi: 10.1016/j.ajhg.2011.05.012 pmid:21683322
58 O’Roak BJ, Deriziotis P, Lee C, Vives L, Schwartz JJ, Girirajan S, Karakoc E, Mackenzie AP, Ng SB, Baker C, Rieder MJ, Nickerson DA, Bernier R, Fisher SE, Shendure J, Eichler EE. Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations. Nat Genet 2011; 43(6): 585-589
doi: 10.1038/ng.835 pmid:21572417
59 Le Goff C, Mahaut C, Abhyankar A, Le Goff W, Serre V, Afenjar A, Destrée A, di Rocco M, Héron D, Jacquemont S, Marlin S, Simon M, Tolmie J, Verloes A, Casanova JL, Munnich A, Cormier-Daire V. Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome. Nat Genet 2012; 44(1): 85-88
doi: 10.1038/ng.1016 pmid:22158539
60 Worthey EA, Mayer AN, Syverson GD, Helbling D, Bonacci BB, Decker B, Serpe JM, Dasu T, Tschannen MR, Veith RL, Basehore MJ, Broeckel U, Tomita-Mitchell A, Arca MJ, Casper JT, Margolis DA, Bick DP, Hessner MJ, Routes JM, Verbsky JW, Jacob HJ, Dimmock DP. Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease. Genet Med 2011; 13(3): 255-262
doi: 10.1097/GIM.0b013e3182088158 pmid:21173700
61 ?al??kan M, Chong JX, Uricchio L, Anderson R, Chen P, Sougnez C, Garimella K, Gabriel SB, dePristo MA, Shakir K, Matern D, Das S, Waggoner D, Nicolae DL, Ober C. Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13. Hum Mol Genet 2011; 20(7): 1285-1289
doi: 10.1093/hmg/ddq569 pmid:21212097
62 Züchner S, Dallman J, Wen R, Beecham G, Naj A, Farooq A, Kohli MA, Whitehead PL, Hulme W, Konidari I, Edwards YJ, Cai G, Peter I, Seo D, Buxbaum JD, Haines JL, Blanton S, Young J, Alfonso E, Vance JM, Lam BL, Peri?ak-Vance MA. Whole-exome sequencing links a variant in DHDDS to retinitis pigmentosa. Am J Hum Genet 2011; 88(2): 201-206
doi: 10.1016/j.ajhg.2011.01.001 pmid:21295283
63 Becker J, Semler O, Gilissen C, Li Y, Bolz HJ, Giunta C, Bergmann C, Rohrbach M, Koerber F, Zimmermann K, de Vries P, Wirth B, Schoenau E, Wollnik B, Veltman JA, Hoischen A, Netzer C. Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta. Am J Hum Genet 2011; 88(3): 362-371
doi: 10.1016/j.ajhg.2011.01.015 pmid:21353196
64 Glazov EA, Zankl A, Donskoi M, Kenna TJ, Thomas GP, Clark GR, Duncan EL, Brown MA. Whole-exome re-sequencing in a family quartet identifies POP1 mutations as the cause of a novel skeletal dysplasia. PLoS Genet 2011; 7(3): e1002027
doi: 10.1371/journal.pgen.1002027 pmid:21455487
65 Sloan JL, Johnston JJ, Manoli I, Chandler RJ, Krause C, Carrillo-Carrasco N, Chandrasekaran SD, Sysol JR, O’Brien K, Hauser NS, Sapp JC, Dorward HM, Huizing M, Barshop BA, Berry SA, James PM, Champaigne NL, de Lonlay P, Valayannopoulos V, Geschwind MD, Gavrilov DK, Nyhan WL, Biesecker LG, Venditti CP. Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria. Nat Genet 2011; 43(9): 883-886
doi: 10.1038/ng.908 pmid:21841779
66 O’Sullivan J, Bitu CC, Daly SB, Urquhart JE, Barron MJ, Bhaskar SS, Martelli-Júnior H, dos Santos Neto PE, Mansilla MA, Murray JC, Coletta RD, Black GC, Dixon MJ. Whole-Exome sequencing identifies FAM20A mutations as a cause of amelogenesis imperfecta and gingival hyperplasia syndrome. Am J Hum Genet 2011; 88(5): 616-620
doi: 10.1016/j.ajhg.2011.04.005 pmid:21549343
67 Vissers LE, Lausch E, Unger S, Campos-Xavier AB, Gilissen C, Rossi A, Del Rosario M, Venselaar H, Knoll U, Nampoothiri S, Nair M, Spranger J, Brunner HG, Bonafé L, Veltman JA, Zabel B, Superti-Furga A. Chondrodysplasia and abnormal joint development associated with mutations in IMPAD1, encoding the Golgi-resident nucleotide phosphatase, gPAPP. Am J Hum Genet 2011; 88(5): 608-615
doi: 10.1016/j.ajhg.2011.04.002 pmid:21549340
68 Puente XS, Quesada V, Osorio FG, Cabanillas R, Cadi?anos J, Fraile JM, Ordó?ez GR, Puente DA, Gutiérrez-Fernández A, Fanjul-Fernández M, Lévy N, Freije JM, López-Otín C. Exome sequencing and functional analysis identifies BANF1 mutation as the cause of a hereditary progeroid syndrome. Am J Hum Genet 2011; 88(5): 650-656
doi: 10.1016/j.ajhg.2011.04.010 pmid:21549337
69 G?tz A, Tyynismaa H, Euro L, Ellonen P, Hy?tyl?inen T, Ojala T, H?m?l?inen RH, Tommiska J, Raivio T, Oresic M, Karikoski R, Tammela O, Simola KO, Paetau A, Tyni T, Suomalainen A. Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy. Am J Hum Genet 2011; 88(5): 635-642
doi: 10.1016/j.ajhg.2011.04.006 pmid:21549344
70 Tariq M, Belmont JW, Lalani S, Smolarek T, Ware SM. SHROOM3 is a novel candidate for heterotaxy identified by whole exome sequencing. Genome Biol 2011; 12(9): R91
doi: 10.1186/gb-2011-12-9-r91 pmid:21936905
71 Snape K, Hanks S, Ruark E, Barros-Nú?ez P, Elliott A, Murray A, Lane AH, Shannon N, Callier P, Chitayat D, Clayton-Smith J, Fitzpatrick DR, Gisselsson D, Jacquemont S, Asakura-Hay K, Micale MA, Tolmie J, Turnpenny PD, Wright M, Douglas J, Rahman N. Mutations in CEP57 cause mosaic variegated aneuploidy syndrome. Nat Genet 2011; 43(6): 527-529
doi: 10.1038/ng.822 pmid:21552266
72 Saitsu H, Osaka H, Sasaki M, Takanashi J, Hamada K, Yamashita A, Shibayama H, Shiina M, Kondo Y, Nishiyama K, Tsurusaki Y, Miyake N, Doi H, Ogata K, Inoue K, Matsumoto N. Mutations in POLR3A and POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy. Am J Hum Genet 2011; 89(5): 644-651
doi: 10.1016/j.ajhg.2011.10.003 pmid:22036171
73 Pierson TM, Adams D, Bonn F, Martinelli P, Cherukuri PF, Teer JK, Hansen NF, Cruz P, Mullikin For The Nisc Comparative Sequencing Program JC, Blakesley RW, Golas G, Kwan J, Sandler A, Fuentes Fajardo K, Markello T, Tifft C, Blackstone C, Rugarli EI, Langer T, Gahl WA, Toro C. Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases. PLoS Genet 2011; 7(10): e1002325
doi: 10.1371/journal.pgen.1002325 pmid:22022284
74 Theis JL, Sharpe KM, Matsumoto ME, Chai HS, Nair AA, Theis JD, de Andrade M, Wieben ED, Michels VV, Olson TM. Homozygosity mapping and exome sequencing reveal GATAD1 mutation in autosomal recessive dilated cardiomyopathy. Circ Cardiovasc Genet 2011; 4(6): 585-594
doi: 10.1161/CIRCGENETICS.111.961052 pmid:21965549
75 Zangen D, Kaufman Y, Zeligson S, Perlberg S, Fridman H, Kanaan M, Abdulhadi-Atwan M, Abu Libdeh A, Gussow A, Kisslov I, Carmel L, Renbaum P, Levy-Lahad E. XX ovarian dysgenesis is caused by a PSMC3IP/HOP2 mutation that abolishes coactivation of estrogen-driven transcription. Am J Hum Genet 2011; 89(4): 572-579
doi: 10.1016/j.ajhg.2011.09.006 pmid:21963259
76 Takata A, Kato M, Nakamura M, Yoshikawa T, Kanba S, Sano A, Kato T. Exome sequencing identifies a novel missense variant in RRM2B associated with autosomal recessive progressive external ophthalmoplegia. Genome Biol 2011; 12(9): R92
doi: 10.1186/gb-2011-12-9-r92 pmid:21951382
77 Aldahmesh MA, Khan AO, Mohamed JY, Alkuraya H, Ahmed H, Bobis S, Al-Mesfer S, Alkuraya FS. Identification of ADAMTS18 as a gene mutated in Knobloch syndrome. J Med Genet 2011; 48(9): 597-601
doi: 10.1136/jmedgenet-2011-100306 pmid:21862674
78 Doi H, Yoshida K, Yasuda T, Fukuda M, Fukuda Y, Morita H, Ikeda S, Kato R, Tsurusaki Y, Miyake N, Saitsu H, Sakai H, Miyatake S, Shiina M, Nukina N, Koyano S, Tsuji S, Kuroiwa Y, Matsumoto N. Exome sequencing reveals a homozygous SYT14 mutation in adult-onset, autosomal-recessive spinocerebellar ataxia with psychomotor retardation. Am J Hum Genet 2011; 89(2): 320-327
doi: 10.1016/j.ajhg.2011.07.012 pmid:21835308
79 Shaheen R, Faqeih E, Sunker A, Morsy H, Al-Sheddi T, Shamseldin HE, Adly N, Hashem M, Alkuraya FS. Recessive mutations in DOCK6, encoding the guanidine nucleotide exchange factor DOCK6, lead to abnormal actin cytoskeleton organization and Adams-Oliver syndrome. Am J Hum Genet 2011; 89(2): 328-333
doi: 10.1016/j.ajhg.2011.07.009 pmid:21820096
80 Sanna-Cherchi S, Burgess KE, Nees SN, Caridi G, Weng PL, Dagnino M, Bodria M, Carrea A, Allegretta MA, Kim HR, Perry BJ, Gigante M, Clark LN, Kisselev S, Cusi D, Gesualdo L, Allegri L, Scolari F, D’Agati V, Shapiro LS, Pecoraro C, Palomero T, Ghiggeri GM, Gharavi AG. Exome sequencing identified MYO1E and NEIL1 as candidate genes for human autosomal recessive steroid-resistant nephrotic syndrome. Kidney Int 2011; 80(4): 389-396
doi: 10.1038/ki.2011.148 pmid:21697813
81 Barak T, Kwan KY, Louvi A, Demirbilek V, Sayg? S, Tüysüz B, Choi M, Boyac? H, Doerschner K, Zhu Y, Kaymak?alan H, Y?lmaz S, Bak?rc?o?lu M, Ca?layan AO, Oztürk AK, Yasuno K, Brunken WJ, Atalar E, Yal??nkaya C, Din?er A, Bronen RA, Mane S, Oz?elik T, Lifton RP, Sestan N, Bilgüvar K, Günel M. Recessive LAMC3 mutations cause malformations of occipital cortical development. Nat Genet 2011; 43(6): 590-594
doi: 10.1038/ng.836 pmid:21572413
82 Abou Jamra R, Philippe O, Raas-Rothschild A, Eck SH, Graf E, Buchert R, Borck G, Ekici A, Brockschmidt FF, N?then MM, Munnich A, Strom TM, Reis A, Colleaux L. Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature. Am J Hum Genet 2011; 88(6): 788-795
doi: 10.1016/j.ajhg.2011.04.019 pmid:21620353
83 Galmiche L, Serre V, Beinat M, Assouline Z, Lebre AS, Chretien D, Nietschke P, Benes V, Boddaert N, Sidi D, Brunelle F, Rio M, Munnich A, R?tig A. Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy. Hum Mutat 2011; 32(11): 1225-1231
doi: 10.1002/humu.21562 pmid:21786366
84 Ozgül RK, Siemiatkowska AM, Yücel D, Myers CA, Collin RW, Zonneveld MN, Beryozkin A, Banin E, Hoyng CB, van den Born LI, Bose R, Shen W, Sharon D, Cremers FP, Klevering BJ, den Hollander AI, Corbo JC; Collaborators: Ayuso C, Banfi S, Ben-Yosef T, de Baere E, Hamel C, Inglehearn C, Koenekoop RK, Kohl S, Leroy BP, Toomes C, Wissinger B. Exome sequencing and cis-regulatory mapping identify mutations in MAK, a gene encoding a regulator of ciliary length, as a cause of retinitis pigmentosa. Am J Hum Genet 2011; 89(2): 253-264
doi: 10.1016/j.ajhg.2011.07.005 pmid:21835304
85 Hanson D, Murray PG, O’Sullivan J, Urquhart J, Daly S, Bhaskar SS, Biesecker LG, Skae M, Smith C, Cole T, Kirk J, Chandler K, Kingston H, Donnai D, Clayton PE, Black GC. Exome sequencing identifies CCDC8 mutations in 3-M syndrome, suggesting that CCDC8 contributes in a pathway with CUL7 and OBSL1 to control human growth. Am J Hum Genet 2011; 89(1): 148-153
doi: 10.1016/j.ajhg.2011.05.028 pmid:21737058
86 Kalay E, Yigit G, Aslan Y, Brown KE, Pohl E, Bicknell LS, Kayserili H, Li Y, Tüysüz B, Nürnberg G, Kiess W, Koegl M, Baessmann I, Buruk K, Toraman B, Kayipmaz S, Kul S, Ikbal M, Turner DJ, Taylor MS, Aerts J, Scott C, Milstein K, Dollfus H, Wieczorek D, Brunner HG, Hurles M, Jackson AP, Rauch A, Nürnberg P, Karagüzel A, Wollnik B. CEP152 is a genome maintenance protein disrupted in Seckel syndrome. Nat Genet 2011; 43(1): 23-26
doi: 10.1038/ng.725 pmid:21131973
87 Bjursell MK, Blom HJ, Cayuela JA, Engvall ML, Lesko N, Balasubramaniam S, Brandberg G, Halldin M, Falkenberg M, Jakobs C, Smith D, Struys E, von D?beln U, Gustafsson CM, Lundeberg J, Wedell A. Adenosine kinase deficiency disrupts the methionine cycle and causes hypermethioninemia, encephalopathy, and abnormal liver function. Am J Hum Genet 2011; 89(4): 507-515
doi: 10.1016/j.ajhg.2011.09.004 pmid:21963049
88 Bredrup C, Saunier S, Oud MM, Fiskerstrand T, Hoischen A, Brackman D, Leh SM, Midtb? M, Filhol E, Bole-Feysot C, Nitschké P, Gilissen C, Haugen OH, Sanders JS, Stolte-Dijkstra I, Mans DA, Steenbergen EJ, Hamel BC, Matignon M, Pfundt R, Jeanpierre C, Boman H, R?dahl E, Veltman JA, Knappskog PM, Knoers NV, Roepman R, Arts HH. Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19. Am J Hum Genet 2011; 89(5): 634-643
doi: 10.1016/j.ajhg.2011.10.001 pmid:22019273
89 Aldahmesh MA, Mohamed JY, Alkuraya HS, Verma IC, Puri RD, Alaiya AA, Rizzo WB, Alkuraya FS. Recessive mutations in ELOVL4 cause ichthyosis, intellectual disability, and spastic quadriplegia. Am J Hum Genet 2011; 89(6): 745-750
doi: 10.1016/j.ajhg.2011.10.011 pmid:22100072
90 Dauber A, Nguyen TT, Sochett E, Cole DE, Horst R, Abrams SA, Carpenter TO, Hirschhorn JN. Genetic defect in CYP24A1, the vitamin D 24-hydroxylase gene, in a patient with severe infantile hypercalcemia. J Clin Endocrinol Metab 2012; 97(2): E268-E274
doi: 10.1210/jc.2011-1972 pmid:22112808
91 Logan CV, Lucke B, Pottinger C, Abdelhamed ZA, Parry DA, Szymanska K, Diggle CP, van Riesen A, Morgan JE, Markham G, Ellis I, Manzur AY, Markham AF, Shires M, Helliwell T, Scoto M, Hübner C, Bonthron DT, Taylor GR, Sheridan E, Muntoni F, Carr IM, Schuelke M, Johnson CA. Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD). Nat Genet 2011; 43(12): 1189-1192
doi: 10.1038/ng.995 pmid:22101682
92 Albers CA, Cvejic A, Favier R, Bouwmans EE, Alessi MC, Bertone P, Jordan G, Kettleborough RN, Kiddle G, Kostadima M, Read RJ, Sipos B, Sivapalaratnam S, Smethurst PA, Stephens J, Voss K, Nurden A, Rendon A, Nurden P, Ouwehand WH. Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome. Nat Genet 2011; 43(8): 735-737
doi: 10.1038/ng.885 pmid:21765411
93 de Greef JC, Wang J, Balog J, den Dunnen JT, Frants RR, Straasheijm KR, Aytekin C, van der Burg M, Duprez L, Ferster A, Gennery AR, Gimelli G, Reisli I, Schuetz C, Schulz A, Smeets DF, Sznajer Y, Wijmenga C, van Eggermond MC, van Ostaijen-Ten Dam MM, Lankester AC, van Tol MJ, van den Elsen PJ, Weemaes CM, van der Maarel SM. Mutations in ZBTB24 are associated with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2. Am J Hum Genet 2011; 88(6): 796-804
doi: 10.1016/j.ajhg.2011.04.018 pmid:21596365
94 Sergouniotis PI, Davidson AE, Mackay DS, Li Z, Yang X, Plagnol V, Moore AT, Webster AR. Recessive mutations in KCNJ13, encoding an inwardly rectifying potassium channel subunit, cause leber congenital amaurosis. Am J Hum Genet 2011; 89(1): 183-190
doi: 10.1016/j.ajhg.2011.06.002 pmid:21763485
95 Erlich Y, Edvardson S, Hodges E, Zenvirt S, Thekkat P, Shaag A, Dor T, Hannon GJ, Elpeleg O. Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis. Genome Res 2011; 21(5): 658-664
doi: 10.1101/gr.117143.110 pmid:21487076
96 Tsurusaki Y, Osaka H, Hamanoue H, Shimbo H, Tsuji M, Doi H, Saitsu H, Matsumoto N, Miyake N. Rapid detection of a mutation causing X-linked leucoencephalopathy by exome sequencing. J Med Genet 2011; 48(9): 606-609
doi: 10.1136/jmg.2010.083535 pmid:21415082
97 Simpson MA, Deshpande C, Dafou D, Vissers LE, Woollard WJ, Holder SE, Gillessen-Kaesbach G, Derks R, White SM, Cohen-Snuijf R, Kant SG, Hoefsloot LH, Reardon W, Brunner HG, Bongers EM, Trembath RC. De novo mutations of the gene encoding the histone acetyltransferase KAT6B cause Genitopatellar syndrome. Am J Hum Genet 2012; 90(2): 290-294
doi: 10.1016/j.ajhg.2011.11.024 pmid:22265017
98 Campeau PM, Kim JC, Lu JT, Schwartzentruber JA, Abdul-Rahman OA, Schlaubitz S, Murdock DM, Jiang MM, Lammer EJ, Enns GM, Rhead WJ, Rowland J, Robertson SP, Cormier-Daire V, Bainbridge MN, Yang XJ, Gingras MC, Gibbs RA, Rosenblatt DS, Majewski J, Lee BH. Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome. Am J Hum Genet 2012; 90(2): 282-289
doi: 10.1016/j.ajhg.2011.11.023 pmid:22265014
99 Bochukova E, Schoenmakers N, Agostini M, Schoenmakers E, Rajanayagam O, Keogh JM, Henning E, Reinemund J, Gevers E, Sarri M, Downes K, Offiah A, Albanese A, Halsall D, Schwabe JW, Bain M, Lindley K, Muntoni F, Vargha-Khadem F, Dattani M, Farooqi IS, Gurnell M, Chatterjee K. A mutation in the thyroid hormone receptor alpha gene. N Engl J Med 2012; 366(3): 243-249
doi: 10.1056/NEJMoa1110296 pmid:22168587
100 Hood RL, Lines MA, Nikkel SM, Schwartzentruber J, Beaulieu C, Nowaczyk MJ, Allanson J, Kim CA, Wieczorek D, Moilanen JS, Lacombe D, Gillessen-Kaesbach G, Whiteford ML, Quaio CR, Gomy I, Bertola DR, Albrecht B, Platzer K, McGillivray G, Zou R, McLeod DR, Chudley AE, Chodirker BN, Marcadier J; FORGE Canada Consortium, Majewski J, Bulman DE, White SM, Boycott KM; Collaborators: Boycott K, Friedman J, Michaud J, Bernier F, Brudno M, Fernandez B, Knoppers B, Samuels M, Scherer S. Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome. Am J Hum Genet 2012; 90(2): 308-313
doi: 10.1016/j.ajhg.2011.12.001 pmid:22265015
101 Montenegro G, Rebelo AP, Connell J, Allison R, Babalini C, D’Aloia M, Montieri P, Schüle R, Ishiura H, Price J, Strickland A, Gonzalez MA, Baumbach-Reardon L, Deconinck T, Huang J, Bernardi G, Vance JM, Rogers MT, Tsuji S, De Jonghe P, Pericak-Vance MA, Sch?ls L, Orlacchio A, Reid E, Züchner S. Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12. J Clin Invest 2012; 122(2): 538-544
doi: 10.1172/JCI60560 pmid:22232211
102 Ostergaard P, Simpson MA, Mendola A, Vasudevan P, Connell FC, van Impel A, Moore AT, Loeys BL, Ghalamkarpour A, Onoufriadis A, Martinez-Corral I, Devery S, Leroy JG, van Laer L, Singer A, Bialer MG, McEntagart M, Quarrell O, Brice G, Trembath RC, Schulte-Merker S, Makinen T, Vikkula M, Mortimer PS, Mansour S, Jeffery S. Mutations in KIF11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy. Am J Hum Genet 2012; 90(2): 356-362
doi: 10.1016/j.ajhg.2011.12.018 pmid:22284827
103 Depienne C, Bouteiller D, Méneret A, Billot S, Groppa S, Klebe S, Charbonnier-Beaupel F, Corvol JC, Saraiva JP, Brueggemann N, Bhatia K, Cincotta M, Brochard V, Flamand-Roze C, Carpentier W, Meunier S, Marie Y, Gaussen M, Stevanin G, Wehrle R, Vidailhet M, Klein C, Dusart I, Brice A, Roze E. RAD51 haploinsufficiency causes congenital mirror movements in humans. Am J Hum Genet 2012; 90(2): 301-307
doi: 10.1016/j.ajhg.2011.12.002 pmid:22305526
104 Lines MA, Huang L, Schwartzentruber J, Douglas SL, Lynch DC, Beaulieu C, Guion-Almeida ML, Zechi-Ceide RM, Gener B, Gillessen-Kaesbach G, Nava C, Baujat G, Horn D, Kini U, Caliebe A, Alanay Y, Utine GE, Lev D, Kohlhase J, Grix AW, Lohmann DR, Hehr U, B?hm D, Majewski J, Bulman DE, Wieczorek D, Boycott KM; Collaborators: Boycott K, Friedman J, Michaud J, Bernier F, Brudno M, Fernandez B, Knoppers B, Samuels M, Scherer S. Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly. Am J Hum Genet 2012; 90(2): 369-377
doi: 10.1016/j.ajhg.2011.12.023 pmid:22305528
105 Harms MB, Sommerville RB, Allred P, Bell S, Ma D, Cooper P, Lopate G, Pestronk A, Weihl CC, Baloh RH. Exome sequencing reveals DNAJB6 mutations in dominantly-inherited myopathy. Ann Neurol 2012; 71(3): 407-416
doi: 10.1002/ana.22683 pmid:22334415
106 Kirwan M, Walne AJ, Plagnol V, Velangi M, Ho A, Hossain U, Vulliamy T, Dokal I. Exome sequencing identifies autosomal-dominant SRP72 mutations associated with familial aplasia and myelodysplasia. Am J Hum Genet 2012; 90(5): 888-892
doi: 10.1016/j.ajhg.2012.03.020 pmid:22541560
107 Lee H, Graham JM Jr, Rimoin DL, Lachman RS, Krejci P, Tompson SW, Nelson SF, Krakow D, Cohn DH. Exome sequencing identifies PDE4D mutations in acrodysostosis. Am J Hum Genet 2012; 90(4): 746-751
doi: 10.1016/j.ajhg.2012.03.004 pmid:22464252
108 Lin Z, Chen Q, Lee M, Cao X, Zhang J, Ma D, Chen L, Hu X, Wang H, Wang X, Zhang P, Liu X, Guan L, Tang Y, Yang H, Tu P, Bu D, Zhu X, Wang K, Li R, Yang Y. Exome sequencing reveals mutations in TRPV3 as a cause of Olmsted syndrome. Am J Hum Genet 2012; 90(3): 558-564
doi: 10.1016/j.ajhg.2012.02.006 pmid:22405088
109 Bernier FP, Caluseriu O, Ng S, Schwartzentruber J, Buckingham KJ, Innes AM, Jabs EW, Innis JW, Schuette JL, Gorski JL, Byers PH, Andelfinger G, Siu V, Lauzon J, Fernandez BA, McMillin M, Scott RH, Racher H, Majewski J, Nickerson DA, Shendure J, Bamshad MJ, Parboosingh JS; Collaborators: Boycott K, Friedman J, Michaud J, Bernier F, Brudno M, Fernandez B, Knoppers B, Samuels M, Scherer S. Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome. Am J Hum Genet 2012; 90(5): 925-933
doi: 10.1016/j.ajhg.2012.04.004 pmid:22541558
110 Zankl A, Duncan EL, Leo PJ, Clark GR, Glazov EA, Addor MC, Herlin T, Kim CA, Leheup BP, McGill J, McTaggart S, Mittas S, Mitchell AL, Mortier GR, Robertson SP, Schroeder M, Terhal P, Brown MA. Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB. Am J Hum Genet 2012; 90(3): 494-501
doi: 10.1016/j.ajhg.2012.01.003 pmid:22387013
111 Tsurusaki Y, Okamoto N, Ohashi H, Kosho T, Imai Y, Hibi-Ko Y, Kaname T, Naritomi K, Kawame H, Wakui K, Fukushima Y, Homma T, Kato M, Hiraki Y, Yamagata T, Yano S, Mizuno S, Sakazume S, Ishii T, Nagai T, Shiina M, Ogata K, Ohta T, Niikawa N, Miyatake S, Okada I, Mizuguchi T, Doi H, Saitsu H, Miyake N, Matsumoto N. Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome. Nat Genet 2012; 44(4): 376-378
doi: 10.1038/ng.2219 pmid:22426308
112 Santen GW, Aten E, Sun Y, Almomani R, Gilissen C, Nielsen M, Kant SG, Snoeck IN, Peeters EA, Hilhorst-Hofstee Y, Wessels MW, den Hollander NS, Ruivenkamp CA, van Ommen GJ, Breuning MH, den Dunnen JT, van Haeringen A, Kriek M. Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome. Nat Genet 2012; 44(4): 379-380
doi: 10.1038/ng.2217 pmid:22426309
113 Austin ED, Ma L, LeDuc C, Berman Rosenzweig E, Borczuk A, Phillips JA 3rd, Palomero T, Sumazin P, Kim HR, Talati MH, West J, Loyd JE, Chung WK. Whole exome sequencing to identify a novel gene (caveolin-1) associated with human pulmonary arterial hypertension. Circ Cardiovasc Genet 2012; 5(3): 336-343
doi: 10.1161/CIRCGENETICS.111.961888 pmid:22474227
114 Qi XP, Du ZF, Ma JM, Chen XL, Zhang Q, Fei J, Wei XM, Chen D, Ke HP, Liu XZ, Li F, Chen ZG, Su Z, Jin HY, Liu WT, Zhao Y, Jiang HL, Lan ZZ, Li PF, Fang MY, Dong W, Zhang XN. Genetic diagnosis of autosomal dominant polycystic kidney disease by targeted capture and next-generation sequencing: utility and limitations. Gene 2013; 516(1): 93-100
doi: 10.1016/j.gene.2012.12.060 pmid:23266634
115 Charlesworth G, Plagnol V, Holmstr?m KM, Bras J, Sheerin UM, Preza E, Rubio-Agusti I, Ryten M, Schneider SA, Stamelou M, Trabzuni D, Abramov AY, Bhatia KP, Wood NW. Mutations in ANO3 cause dominant craniocervical dystonia: ion channel implicated in pathogenesis. Am J Hum Genet 2012; 91(6): 1041-1050
doi: 10.1016/j.ajhg.2012.10.024 pmid:23200863
116 Barwick KE, Wright J, Al-Turki S, McEntagart MM, Nair A, Chioza B, Al-Memar A, Modarres H, Reilly MM, Dick KJ, Ruggiero AM, Blakely RD, Hurles ME, Crosby AH. Defective presynaptic choline transport underlies hereditary motor neuropathy. Am J Hum Genet 2012; 91(6): 1103-1107
doi: 10.1016/j.ajhg.2012.09.019 pmid:23141292
117 Heron SE, Smith KR, Bahlo M, Nobili L, Kahana E, Licchetta L, Oliver KL, Mazarib A, Afawi Z, Korczyn A, Plazzi G, Petrou S, Berkovic SF, Scheffer IE, Dibbens LM. Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy. Nat Genet 2012; 44(11): 1188-1190
doi: 10.1038/ng.2440 pmid:23086396
118 Gao J, Xue J, Chen L, Ke X, Qi Y, Liu Y. Whole exome sequencing identifies a novel DFNA9 mutation, C162Y. Clin Genet 2013; 83(5): 477-481
119 Sasaki T, Niizeki H, Shimizu A, Shiohama A, Hirakiyama A, Okuyama T, Seki A, Kabashima K, Otsuka A, Ishiko A, Tanese K, Miyakawa S, Sakabe J, Kuwahara M, Amagai M, Okano H, Suematsu M, Kudoh J. Identification of mutations in the prostaglandin transporter gene SLCO2A1 and its phenotype-genotype correlation in Japanese patients with pachydermoperiostosis. J Dermatol Sci 2012; 68(1): 36-44
doi: 10.1016/j.jdermsci.2012.07.008 pmid:22906430
120 Semler O, Garbes L, Keupp K, Swan D, Zimmermann K, Becker J, Iden S, Wirth B, Eysel P, Koerber F, Schoenau E, Bohlander SK, Wollnik B, Netzer C. A mutation in the 5′-UTR of IFITM5 creates an in-frame start codon and causes autosomal-dominant osteogenesis imperfecta type V with hyperplastic callus. Am J Hum Genet 2012; 91(2): 349-357
doi: 10.1016/j.ajhg.2012.06.011 pmid:22863195
121 Pohler E, Mamai O, Hirst J, Zamiri M, Horn H, Nomura T, Irvine AD, Moran B, Wilson NJ, Smith FJ, Goh CS, Sandilands A, Cole C, Barton GJ, Evans AT, Shimizu H, Akiyama M, Suehiro M, Konohana I, Shboul M, Teissier S, Boussofara L, Denguezli M, Saad A, Gribaa M, Dopping-Hepenstal PJ, McGrath JA, Brown SJ, Goudie DR, Reversade B, Munro CS, McLean WH. Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma. Nat Genet 2012; 44(11): 1272-1276
doi: 10.1038/ng.2444 pmid:23064416
122 Guo BR, Zhang X, Chen G, Zhang JG, Sun LD, Du WD, Zhang Q, Cui Y, Zhu J, Tang XF, Xiao R, Liu Y, Li M, Tang HY, Yang X, Cheng H, Li M, Gao M, Li P, Wang JB, Xu FP, Zuo XB, Zheng XD, Zhang XG, Yang L, Liu JJ, Wang J, Yang S, Zhang XJ. Exome sequencing identifies a COL14A1 mutation in a large Chinese pedigree with punctate palmoplantar keratoderma. J Med Genet 2012; 49(9): 563-568
doi: 10.1136/jmedgenet-2012-100868 pmid:22972947
123 Zhang X, Guo BR, Cai LQ, Jiang T, Sun LD, Cui Y, Hu JC, Zhu J, Chen G, Tang XF, Sun GQ, Tang HY, Liu Y, Li M, Li QB, Cheng H, Gao M, Li P, Yang X, Zuo XB, Zheng XD, Wang PG, Wang J, Wang J, Liu JJ, Yang S, Li YR, Zhang XJ. Exome sequencing identified a missense mutation of EPS8L3 in Marie Unna hereditary hypotrichosis. J Med Genet 2012; 49(12): 727-730
doi: 10.1136/jmedgenet-2012-101134 pmid:23099647
124 Zhang SQ, Jiang T, Li M, Zhang X, Ren YQ, Wei SC, Sun LD, Cheng H, Li Y, Yin XY, Hu ZM, Wang ZY, Liu Y, Guo BR, Tang HY, Tang XF, Ding YT, Wang JB, Li P, Wu BY, Wang W, Yuan XF, Hou JS, Ha WW, Wang WJ, Zhai YJ, Wang J, Qian FF, Zhou FS, Chen G, Zuo XB, Zheng XD, Sheng YJ, Gao JP, Liang B, Li P, Zhu J, Xiao FL, Wang PG, Cui Y, Li H, Liu SX, Gao M, Fan X, Shen SK, Zeng M, Sun GQ, Xu Y, Hu JC, He TT, Li YR, Yang HM, Wang J, Yu ZY, Zhang HF, Hu X, Yang K, Wang J, Zhao SX, Zhou YW, Liu JJ, Du WD, Zhang L, Xia K, Yang S, Wang J, Zhang XJ. Exome sequencing identifies MVK mutations in disseminated superficial actinic porokeratosis. Nat Genet 2012; 44(10): 1156-1160
doi: 10.1038/ng.2409 pmid:22983302
125 Liu Y, Gao M, Lv YM, Yang X, Ren YQ, Jiang T, Zhang X, Guo BR, Li M, Zhang Q, Zhang P, Zhou FS, Chen G, Yin XY, Zuo XB, Sun LD, Zheng XD, Zhang SM, Liu JJ, Zhou Y, Li YR, Wang J, Wang J, Yang HM, Yang S, Li RQ, Zhang XJ. Confirmation by exome sequencing of the pathogenic role of NCSTN mutations in acne inversa (hidradenitis suppurativa). J Invest Dermatol 2011; 131(7): 1570-1572
doi: 10.1038/jid.2011.62 pmid:21430701
126 Boyden LM, Choi M, Choate KA, Nelson-Williams CJ, Farhi A, Toka HR, Tikhonova IR, Bjornson R, Mane SM, Colussi G, Lebel M, Gordon RD, Semmekrot BA, Poujol A, V?lim?ki MJ, De Ferrari ME, Sanjad SA, Gutkin M, Karet FE, Tucci JR, Stockigt JR, Keppler-Noreuil KM, Porter CC, Anand SK, Whiteford ML, Davis ID, Dewar SB, Bettinelli A, Fadrowski JJ, Belsha CW, Hunley TE, Nelson RD, Trachtman H, Cole TR, Pinsk M, Bockenhauer D, Shenoy M, Vaidyanathan P, Foreman JW, Rasoulpour M, Thameem F, Al-Shahrouri HZ, Radhakrishnan J, Gharavi AG, Goilav B, Lifton RP. Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities. Nature 2012; 482(7383): 98-102
doi: 10.1038/nature10814 pmid:22266938
127 Shamseldin HE, Faden MA, Alashram W, Alkuraya FS. Identification of a novel DLX5 mutation in a family with autosomal recessive split hand and foot malformation. J Med Genet 2012; 49(1): 16-20
doi: 10.1136/jmedgenet-2011-100556 pmid:22121204
128 Khan K, Logan CV, McKibbin M, Sheridan E, El?ioglu NH, Yenice O, Parry DA, Fernandez-Fuentes N, Abdelhamed ZI, Al-Maskari A, Poulter JA, Mohamed MD, Carr IM, Morgan JE, Jafri H, Raashid Y, Taylor GR, Johnson CA, Inglehearn CF, Toomes C, Ali M. Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects. Hum Mol Genet 2012; 21(4): 776-783
doi: 10.1093/hmg/ddr509 pmid:22068589
129 Zhang Z, Xia W, He J, Zhang Z, Ke Y, Yue H, Wang C, Zhang H, Gu J, Hu W, Fu W, Hu Y, Li M, Liu Y. Exome sequencing identifies SLCO2A1 mutations as a cause of primary hypertrophic osteoarthropathy. Am J Hum Genet 2012; 90(1): 125-132
doi: 10.1016/j.ajhg.2011.11.019 pmid:22197487
130 Mitchell K, O’Sullivan J, Missero C, Blair E, Richardson R, Anderson B, Antonini D, Murray JC, Shanske AL, Schutte BC, Romano RA, Sinha S, Bhaskar SS, Black GC, Dixon J, Dixon MJ. Exome sequence identifies RIPK4 as the Bartsocas-Papas syndrome locus. Am J Hum Genet 2012; 90(1): 69-75
doi: 10.1016/j.ajhg.2011.11.013 pmid:22197488
131 Walne AJ, Dokal A, Plagnol V, Beswick R, Kirwan M, de la Fuente J, Vulliamy T, Dokal I. Exome sequencing identifies MPL as a causative gene in familial aplastic anemia. Haematologica 2012; 97(4): 524-528
doi: 10.3324/haematol.2011.052787 pmid:22180433
132 Cabral RM, Kurban M, Wajid M, Shimomura Y, Petukhova L, Christiano AM. Whole-exome sequencing in a single proband reveals a mutation in the CHST8 gene in autosomal recessive peeling skin syndrome. Genomics 2012; 99(4): 202-208
doi: 10.1016/j.ygeno.2012.01.005 pmid:22289416
133 Mayr JA, Haack TB, Graf E, Zimmermann FA, Wieland T, Haberberger B, Superti-Furga A, Kirschner J, Steinmann B, Baumgartner MR, Moroni I, Lamantea E, Zeviani M, Rodenburg RJ, Smeitink J, Strom TM, Meitinger T, Sperl W, Prokisch H. Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome. Am J Hum Genet 2012; 90(2): 314-320
doi: 10.1016/j.ajhg.2011.12.005 pmid:22284826
134 Jones MA, Ng BG, Bhide S, Chin E, Rhodenizer D, He P, Losfeld ME, He M, Raymond K, Berry G, Freeze HH, Hegde MR. DDOST mutations identified by whole-exome sequencing are implicated in congenital disorders of glycosylation. Am J Hum Genet 2012; 90(2): 363-368
doi: 10.1016/j.ajhg.2011.12.024 pmid:22305527
135 Audo I, Bujakowska K, Orhan E, Poloschek CM, Defoort-Dhellemmes S, Drumare I, Kohl S, Luu TD, Lecompte O, Zrenner E, Lancelot ME, Antonio A, Germain A, Michiels C, Audier C, Letexier M, Saraiva JP, Leroy BP, Munier FL, Mohand-Sa?d S, Lorenz B, Friedburg C, Preising M, Kellner U, Renner AB, Moskova-Doumanova V, Berger W, Wissinger B, Hamel CP, Schorderet DF, De Baere E, Sharon D, Banin E, Jacobson SG, Bonneau D, Zanlonghi X, Le Meur G, Casteels I, Koenekoop R, Long VW, Meire F, Prescott K, de Ravel T, Simmons I, Nguyen H, Dollfus H, Poch O, Léveillard T, Nguyen-Ba-Charvet K, Sahel JA, Bhattacharya SS, Zeitz C. Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness. Am J Hum Genet 2012; 90(2): 321-330
doi: 10.1016/j.ajhg.2011.12.007 pmid:22325361
136 Hussain MS, Baig SM, Neumann S, Nürnberg G, Farooq M, Ahmad I, Alef T, Hennies HC, Technau M, Altmüller J, Frommolt P, Thiele H, Noegel AA, Nürnberg P. A truncating mutation of CEP135 causes primary microcephaly and disturbed centrosomal function. Am J Hum Genet 2012; 90(5): 871-878
doi: 10.1016/j.ajhg.2012.03.016 pmid:22521416
137 Fiskerstrand T, Arshad N, Haukanes BI, Tronstad RR, Pham KD, Johansson S, H?vik B, T?nder SL, Levy SE, Brackman D, Boman H, Biswas KH, Apold J, Hovdenak N, Visweswariah SS, Knappskog PM. Familial diarrhea syndrome caused by an activating GUCY2C mutation. N Engl J Med 2012; 366(17): 1586-1595
doi: 10.1056/NEJMoa1110132 pmid:22436048
138 Spiegel R, Pines O, Ta-Shma A, Burak E, Shaag A, Halvardson J, Edvardson S, Mahajna M, Zenvirt S, Saada A, Shalev S, Feuk L, Elpeleg O. Infantile cerebellar-retinal degeneration associated with a mutation in mitochondrial aconitase, ACO2. Am J Hum Genet 2012; 90(3): 518-523
doi: 10.1016/j.ajhg.2012.01.009 pmid:22405087
139 Srour M, Schwartzentruber J, Hamdan FF, Ospina LH, Patry L, Labuda D, Massicotte C, Dobrzeniecka S, Capo-Chichi JM, Papillon-Cavanagh S, Samuels ME, Boycott KM, Shevell MI, Laframboise R, Désilets V, Maranda B, Rouleau GA, Majewski J, Michaud JL; Collaborators: Boycott K, Friedman J, Michaud J, Bernier F, Brudno M, Fernandez F, Knoppers B, Samuels M, Scherer S. Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population. Am J Hum Genet 2012; 90(4): 693-700
doi: 10.1016/j.ajhg.2012.02.011 pmid:22425360
140 Polvi A, Linnankivi T, Kivel? T, Herva R, Keating JP, M?kitie O, Pareyson D, Vainionp?? L, Lahtinen J, Hovatta I, Pihko H, Lehesjoki AE. Mutations in CTC1, encoding the CTS telomere maintenance complex component 1, cause cerebroretinal microangiopathy with calcifications and cysts. Am J Hum Genet 2012; 90(3): 540-549
doi: 10.1016/j.ajhg.2012.02.002 pmid:22387016
141 Schossig A, Wolf NI, Fischer C, Fischer M, Stocker G, Pabinger S, Dander A, Steiner B, T?nz O, Kotzot D, Haberlandt E, Amberger A, Burwinkel B, Wimmer K, Fauth C, Grond-Ginsbach C, Koch MJ, Deichmann A, von Kalle C, Bartram CR, Kohlschütter A, Trajanoski Z, Zschocke J. Mutations in ROGDI Cause Kohlschütter-T?nz Syndrome. Am J Hum Genet 2012; 90(4): 701-707
doi: 10.1016/j.ajhg.2012.02.012 pmid:22424600
142 Nakazawa Y, Sasaki K, Mitsutake N, Matsuse M, Shimada M, Nardo T, Takahashi Y, Ohyama K, Ito K, Mishima H, Nomura M, Kinoshita A, Ono S, Takenaka K, Masuyama R, Kudo T, Slor H, Utani A, Tateishi S, Yamashita S, Stefanini M, Lehmann AR, Yoshiura K, Ogi T. Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair. Nat Genet 2012; 44(5): 586-592
doi: 10.1038/ng.2229 pmid:22466610
143 Khateb S, Zelinger L, Ben-Yosef T, Merin S, Crystal-Shalit O, Gross M, Banin E, Sharon D. Exome sequencing identifies a founder frameshift mutation in an alternative exon of USH1C as the cause of autosomal recessive retinitis pigmentosa with late-onset hearing loss. PLoS ONE 2012; 7(12): e51566
doi: 10.1371/journal.pone.0051566 pmid:23251578
144 Choi BO, Park MH, Chung KW, Woo HM, Koo H, Chung HK, Choi KG, Park KD, Lee HJ, Hyun YS, Koo SK. Clinical and histopathological study of Charcot-Marie-Tooth neuropathy with a novel S90W mutation in BSCL2. Neurogenetics 2013; 14(1): 35-42
145 La??uthová P, Gregor M, Sarnová L, Machalová E, Sedlá?ek R, Seeman P. Clinical, in silico, and experimental evidence for pathogenicity of two novel splice site mutations in the SH3TC2 gene. J Neurogenet 2012; 26(3-4): 413-420
doi: 10.3109/01677063.2012.711398 pmid:22950825
146 Lin Z, Chen Q, Shi L, Lee M, Giehl KA, Tang Z, Wang H, Zhang J, Yin J, Wu L, Xiao R, Liu X, Dai L, Zhu X, Li R, Betz RC, Zhang X, Yang Y. Loss-of-function mutations in HOXC13 cause pure hair and nail ectodermal dysplasia. Am J Hum Genet 2012; 91(5): 906-911
doi: 10.1016/j.ajhg.2012.08.029 pmid:23063621
147 Drielsma A, Jalas C, Simonis N, Désir J, Simanovsky N, Pirson I, Elpeleg O, Abramowicz M, Edvardson S. Two novel CCDC88C mutations confirm the role of DAPLE in autosomal recessive congenital hydrocephalus. J Med Genet 2012; 49(11): 708-712
doi: 10.1136/jmedgenet-2012-101190 pmid:23042809
148 Lim SH, Tran-Viet KN, Yanovitch TL, Freedman SF, Klemm T, Call W, Powell C, Ravichandran A, Metlapally R, Nading EB, Rozen S, Young TL. CYP1B1, MYOC, and LTBP2 Mutations in Primary Congenital Glaucoma Patients in the United States. Am J Ophthalmol 2013; 155(3): 508-517.e5
doi: 10.1016/j.ajo.2012.09.012 pmid:23218701
149 Licastro D, Mutarelli M, Peluso I, Neveling K, Wieskamp N, Rispoli R, Vozzi D, Athanasakis E, D’Eustacchio A, Pizzo M, D’Amico F, Ziviello C, Simonelli F, Fabretto A, Scheffer H, Gasparini P, Banfi S, Nigro V. Molecular diagnosis of Usher syndrome: application of two different next generation sequencing-based procedures. PLoS ONE 2012; 7(8): e43799
doi: 10.1371/journal.pone.0043799 pmid:22952768
150 Andrade DM, Paton T, Turnbull J, Marshall CR, Scherer SW, Minassian BA. Mutation of the CLN6 gene in teenage-onset progressive myoclonus epilepsy. Pediatr Neurol 2012; 47(3): 205-208
doi: 10.1016/j.pediatrneurol.2012.05.004 pmid:22883287
151 Olbrich H, Schmidts M, Werner C, Onoufriadis A, Loges NT, Raidt J, Banki NF, Shoemark A, Burgoyne T, Al Turki S, Hurles ME, K?hler G, Schroeder J, Nürnberg G, Nürnberg P, Chung EM, Reinhardt R, Marthin JK, Nielsen KG, Mitchison HM, Omran H.Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry. Am J Hum Genet 2012; 91(4): 672-684
doi: 10.1016/j.ajhg.2012.08.016 pmid:23022101
152 Okumura A, Hayashi M, Shimojima K, Ikeno M, Uchida T, Takanashi JI, Okamoto N, Hisata K, Shoji H, Saito A, Furukawa T, Kishida T, Shimizu T, Yamamoto T. Whole-exome sequencing of a unique brain malformation with periventricular heterotopia, cingulate polymicrogyria and midbrain tectal hyperplasia. Neuropathology 2013; 33(5): 553-560
153 Strom SP, Gao YQ, Martinez A, Ortube C, Chen Z, Nelson SF, Nusinowitz S, Farber DB, Gorin MB. Molecular diagnosis of putative Stargardt Disease probands by exome sequencing. BMC Med Genet 2012; 13(1): 67.
doi: 10.1186/1471-2350-13-67 pmid:22863181
154 McGrath JA, Stone KL, Begum R, Simpson MA, Dopping-Hepenstal PJ, Liu L, McMillan JR, South AP, Pourreyron C, McLean WH, Martinez AE, Mellerio JE, Parsons M. Germline Mutation in EXPH5 Implicates the Rab27B Effector Protein Slac2-b in Inherited Skin Fragility. Am J Hum Genet 2012; 91(6): 1115-1121
doi: 10.1016/j.ajhg.2012.10.012 pmid:23176819
155 Aten E, Sun Y, Almomani R, Santen GW, Messemaker T, Maas SM, Breuning MH, den Dunnen JT. Exome sequencing identifies a branch point variant in Aarskog-Scott syndrome. Hum Mutat 2013; 34(3): 430-434
156 Aminkeng F. Mutations in ATP1A3 cause alternating hemiplegia of childhood. Clin Genet 2013; 83(1): 32-33
doi: 10.1111/cge.12031 pmid:23043298
157 Marduel M, Ouguerram K, Serre V, Bonnefont-Rousselot D, Marques-Pinheiro A, Erik Berge K, Devillers M, Luc G, Lecerf JM, Tosolini L, Erlich D, Peloso GM, Stitziel N, Nitchké P, Ja?s JP; French Research Network on ADH,Abifadel M, Kathiresan S, Leren TP, Rabès JP, Boileau C, Varret M. Description of a large family with autosomal dominant hypercholesterolemia associated with the APOE p.Leu167del mutation. Hum Mutat 2013; 34(1): 83-87
doi: 10.1002/humu.22215 pmid:22949395
158 Sui W, Ou M, Liang J, Ding M, Chen J, Liu W, Xiao R, Meng X, Wang L, Pan X, Zhu P, Xue W, Zhang Y, Lin H, Li F, Zhang J, Dai Y. Rapid gene identification in a Chinese osteopetrosis family by whole exome sequencing. Gene 2013; 516(2): 311-315
doi: 10.1016/j.gene.2012.12.072 pmid:23296056
159 Nicolas G, Pottier C, Maltête D, Coutant S, Rovelet-Lecrux A, Legallic S, Rousseau S, Vaschalde Y, Guyant-Maréchal L, Augustin J, Martinaud O, Defebvre L, Krystkowiak P, Pariente J, Clanet M, Labauge P, Ayrignac X, Lefaucheur R, Le Ber I, Frébourg T, Hannequin D, Campion D. Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification. Neurology 2013; 80(2): 181-187
doi: 10.1212/WNL.0b013e31827ccf34 pmid:23255827
160 Khuong-Quang DA, Schwartzentruber J, Westerman M, Lepage P, Finberg KE, Majewski J, Jabado N. Iron refractory iron deficiency anemia: presentation with hyperferritinemia and response to oral iron therapy. Pediatrics 2013; 131(2): e620-e625
doi: 10.1542/peds.2012-1303 pmid:23319530
161 Guerreiro RJ, Lohmann E, Brás JM, Gibbs JR, Rohrer JD, Gurunlian N, Dursun B, Bilgic B, Hanagasi H, Gurvit H, Emre M, Singleton A, Hardy J. Using exome sequencing to reveal mutations in TREM2 presenting as a frontotemporal dementia-like syndrome without bone involvement. JAMA Neurol 2013; 70(1): 78-84
doi: 10.1001/jamaneurol.2013.579 pmid:23318515
162 Zeitz C, Jacobson SG, Hamel CP, Bujakowska K, Neuillé M, Orhan E, Zanlonghi X, Lancelot ME, Michiels C, Schwartz SB, Bocquet B; Congenital Stationary Night Blindness Consortium, Antonio A, Audier C, Letexier M, Saraiva JP, Luu TD, Sennlaub F, Nguyen H, Poch O, Dollfus H, Lecompte O, Kohl S, Sahel JA, Bhattacharya SS, Audo I. Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindness. Am J Hum Genet 2013; 92(1): 67-75
doi: 10.1016/j.ajhg.2012.10.023 pmid: PMID:23246293
163 Kalsoom UE, Klopocki E, Wasif N, Tariq M, Khan S, Hecht J, Krawitz P, Mundlos S, Ahmad W. Whole exome sequencing identified a novel zinc-finger gene ZNF141 associated with autosomal recessive postaxial polydactyly type A. J Med Genet 2013; 50(1): 47-53
doi: 10.1136/jmedgenet-2012-101219 pmid:23160277
164 Rios JJ, Paria N, Burns DK, Israel BA, Cornelia R, Wise CA, Ezaki M. Somatic gain-of-function mutations in PIK3CA in patients with macrodactyly. Hum Mol Genet 2013; 22(3): 444-451
doi: 10.1093/hmg/dds440 pmid:23100325
165 Schuster B, Knies K, Stoepker C, Velleuer E, Friedl R, Gottwald-Mühlhauser B, de Winter JP, Schindler D. Whole exome sequencing reveals uncommon mutations in the recently identified Fanconi anemia gene SLX4/FANCP. Hum Mutat 2013; 34(1): 93-96
doi: 10.1002/humu.22221 pmid:23033263
166 Kennerson ML, Yiu EM, Chuang DT, Kidambi A, Tso SC, Ly C, Chaudhry R, Drew AP, Rance G, Delatycki MB, Züchner S, Ryan MM, Nicholson GA. A new locus for X-linked dominant Charcot-Marie-Tooth disease (CMTX6) is caused by mutations in the pyruvate dehydrogenase kinase isoenzyme 3 (PDK3) gene. Hum Mol Genet 2013; 22(7): 1404-1416
doi: 10.1093/hmg/dds557 pmid:23297365
167 Choi M, Scholl UI, Ji W, Liu T, Tikhonova IR, Zumbo P, Nayir A, Bakkalo?lu A, Ozen S, Sanjad S, Nelson-Williams C, Farhi A, Mane S, Lifton RP. Genetic diagnosis by whole exome capture and massively parallel DNA sequencing. Proc Natl Acad Sci USA 2009; 106(45): 19096-19101
doi: 10.1073/pnas.0910672106 pmid:19861545
168 Tsurusaki Y, Kobayashi Y, Hisano M, Ito S, Doi H, Nakashima M, Saitsu H, Matsumoto N, Miyake N. The diagnostic utility of exome sequencing in Joubert syndrome and related disorders. J Hum Genet 2013; 58(2): 113-115
169 Biesecker LG. Exome sequencing makes medical genomics a reality. Nat Genet 2010; 42(1): 13-14
doi: 10.1038/ng0110-13 pmid:20037612
170 Gonzaga-Jauregui C, Lupski JR, Gibbs RA. Human genome sequencing in health and disease. Annu Rev Med 2012; 63(1): 35-61
doi: 10.1146/annurev-med-051010-162644 pmid:22248320
171 Ku CS, Cooper DN, Polychronakos C, Naidoo N, Wu M, Soong R. Exome sequencing: dual role as a discovery and diagnostic tool. Ann Neurol 2012; 71(1): 5-14
doi: 10.1002/ana.22647 pmid:22275248
172 Hedges DJ, Guettouche T, Yang S, Bademci G, Diaz A, Andersen A, Hulme WF, Linker S, Mehta A, Edwards YJ, Beecham GW, Martin ER, Pericak-Vance MA, Zuchner S, Vance JM, Gilbert JR. Comparison of three targeted enrichment strategies on the SOLiD sequencing platform. PLoS ONE 2011; 6(4): e18595
doi: 10.1371/journal.pone.0018595 pmid:21559511
173 1000 Genomes Project Consortium, Abecasis GR, Altshuler D, Auton A, Brooks LD, Durbin RM, Gibbs RA, Hurles ME, McVean GA. A map of human genome variation from population-scale sequencing. Nature 2010; 467(7319): 1061-1073
doi: 10.1038/nature09534 pmid:20981092
174 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. The diploid genome sequence of an individual human. PLoS Biol 2007; 5(10): e254
doi: 10.1371/journal.pbio.0050254 pmid:17803354
[1] Tao Wang,Weiping Jia,Cheng Hu. Advancement in genetic variants conferring obesity susceptibility from genome-wide association studies[J]. Front. Med., 2015, 9(2): 146-161.
[2] Ching-Hon Pui. Genomic and pharmacogenetic studies of childhood acute lymphoblastic leukemia[J]. Front. Med., 2015, 9(1): 1-9.
[3] Xiaohong Duan, Thomas Markello, David Adams, Camilo Toro, Cynthia Tifft, William A. Gahl, Cornelius F. Boerkoel. Cultural differences define diagnosis and genomic medicine practice: implications for undiagnosed diseases program in China[J]. Front Med, 2013, 7(3): 389-394.
[4] Sandy Leung-Kuen Au, Irene Oi-Lin Ng, Chun-Ming Wong. Epigenetic dysregulation in hepatocellular carcinoma: focus on polycomb group proteins[J]. Front Med, 2013, 7(2): 231-241.
[5] Qingqing Xu, Xi Wu, Yuyu Xiong, Qinghe Xing, Lin He, Shengying Qin. Pharmacogenomics can improve antipsychotic treatment in schizophrenia[J]. Front Med, 2013, 7(2): 180-190.
[6] Xiao-Mei ZHANG, Ming-Zhou GUO, . The value of epigenetic markers in esophageal cancer[J]. Front. Med., 2010, 4(4): 378-384.
[7] Zi-Jiang CHEN, Yuhua SHI. Polycystic ovary syndrome[J]. Front Med Chin, 2010, 4(3): 280-284.
[8] Dai-Hai YU PhD, Jian-Feng HUANG MD, Ji-Chun CHEN MS, Jie CAO MS, Shu-Feng CHEN PhD, Dong-Feng GU MD, PhD, for the GenSalt Collaborative Research Group, De-Pei LIU PhD, Lai-Yuan WANG PhD, Jing CHEN MD, MSc, Jiang HE MD, PhD, Cashell E. JAQUISH PhD, Dabeeru C. RAO PhD, Charles GU PhD, James E. HIXSON PhD, Chung-Shiuan CHEN MS8, Paul K. WHELTON MD, MSc9, . Genetic variants in the ADD1 and GNB3 genes and blood pressure response to potassium supplementation[J]. Front. Med., 2010, 4(1): 59-66.
[9] Wei-Li ZHANG MD, PhD, Ru-Tai HUI MD, PhD, . Genetics of ischemic and hemorrhagic stroke in Chinese population[J]. Front. Med., 2010, 4(1): 21-28.
[10] ZOU Qilian, LIN Ying, LIN Xiangquan, CHEN Yuanzhong. Genetics analysis of haptoglobin gene in Fujian Han nationality[J]. Front. Med., 2008, 2(1): 105-107.
Full text