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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
REVIEW |
Exome sequencing greatly expedites the progressive research of Mendelian diseases
Xuejun Zhang()
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Abstract  

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,Email:ayzxj@vip.sina.com   
Issue Date: 26 April 2014
URL:  
http://academic.hep.com.cn/fmd/EN/10.1007/s11684-014-0303-9     OR     http://academic.hep.com.cn/fmd/EN/Y2014/V8/I1/42
Fig.1  Flowchart of variant screening.
YearDisorderInheritanceIdentified geneReference
2010
Kabuki syndromeADMLL2[17]
Amyotrophic lateral sclerosisADVCP[18]
Spinocerebellar ataxiasADTGM6[19]
MetachondromatosisADPTPN11[20]
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]
2011
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]
AutismADVarious[58]
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]
AmelogenesisARFAM20A[66]
Chondrodysplasia and abnormal joint developmentARIMPAD1[67]
Progeroid syndromeARBANF1[68]
Infantile mitochondrial cardiomyopathyARAARS2[69]
HeterotaxyARSHROOM3[70]
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]
EMARDDARMEGF10[91]
Gray platelet syndromeARNBEAL2[92]
Immunodeficiency, centromeric instability, and facial anomaliesARZBTB24[93]
Leber congenital amaurosisARKCNJ13[94]
Hereditary spastic paraparesisARKIF1A[95]
LeucoencephalopathyXLRMCT8[96]
2012
Genitopatellar syndromeADKAT6B[97,98]
HypothyroidismADTHRA[99]
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]
AcrodysostosisADPDE4D/PRKAR1A[107]
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]
PachydermoperiostosisADSLCO2A1[119]
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]
HypertensionAR/ADKLHL3/CUL3[126]
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]
2013
Alternating hemiplegia of childhoodADATP1A3[156]
HypercholesterolemiaADAPOE[157]
OsteopetrosisADCLCN7[158]
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]
MacrodactylyPIK3CA[164]
Fanconi anemiaARSLX4/FANCP[165]
Charcot-Marie-Tooth diseaseXDPDK3[166]
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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