-
1
-
-
55549147191
-
Personal genomes: the case of the missing heritability
-
Maher B. Personal genomes: the case of the missing heritability. Nature 2008: 456: 18-21.
-
(2008)
Nature
, vol.456
, pp. 18-21
-
-
Maher, B.1
-
2
-
-
84885834925
-
-
Exome Variant Server. Seattle, WA: NHBLI Exome Sequencing Project (ESP).
-
Exome Variant Server. 2011. Seattle, WA: NHBLI Exome Sequencing Project (ESP).
-
(2011)
-
-
-
3
-
-
84975742565
-
A map of human genome variation from population-scale sequencing
-
Consortium TGP.
-
Consortium TGP. A map of human genome variation from population-scale sequencing. Nature 2010: 467: 1061-1073.
-
(2010)
Nature
, vol.467
, pp. 1061-1073
-
-
-
4
-
-
79951800135
-
Cleft lip and palate: understanding genetic and environmental influences
-
Dixon MJ, Marazita ML, Beaty TH, Murray JC. Cleft lip and palate: understanding genetic and environmental influences. Nat Rev Genet 2011: 12: 167-178.
-
(2011)
Nat Rev Genet
, vol.12
, pp. 167-178
-
-
Dixon, M.J.1
Marazita, M.L.2
Beaty, T.H.3
Murray, J.C.4
-
6
-
-
2642522952
-
In a Vietnamese population, MSX1 variants contribute to cleft lip and palate
-
Suzuki Y, Jezewski PA, Machida J et al. In a Vietnamese population, MSX1 variants contribute to cleft lip and palate. Genet Med 2004: 6: 117-125.
-
(2004)
Genet Med
, vol.6
, pp. 117-125
-
-
Suzuki, Y.1
Jezewski, P.A.2
Machida, J.3
-
7
-
-
0034789530
-
Mutation of PVRL1 is associated with sporadic, non-syndromic cleft lip/palate in northern Venezuela
-
Sozen MA, Suzuki K, Tolarova MM et al. Mutation of PVRL1 is associated with sporadic, non-syndromic cleft lip/palate in northern Venezuela. Nat Genet 2001: 29: 141-142.
-
(2001)
Nat Genet
, vol.29
, pp. 141-142
-
-
Sozen, M.A.1
Suzuki, K.2
Tolarova, M.M.3
-
8
-
-
19444374276
-
Orofacial clefting: recent insights into a complex trait
-
Jugessur A, Murray JC. Orofacial clefting: recent insights into a complex trait. Curr Opin Genet Dev 2005: 15: 270-278.
-
(2005)
Curr Opin Genet Dev
, vol.15
, pp. 270-278
-
-
Jugessur, A.1
Murray, J.C.2
-
9
-
-
18644374446
-
Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes
-
Kondo S, Schutte BC, Richardson RJ et al. Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes. Nat Genet 2002: 32: 285-289.
-
(2002)
Nat Genet
, vol.32
, pp. 285-289
-
-
Kondo, S.1
Schutte, B.C.2
Richardson, R.J.3
-
11
-
-
34248347081
-
Impaired FGF signaling contributes to cleft lip and palate
-
Riley BM, Mansilla MA, Ma J et al. Impaired FGF signaling contributes to cleft lip and palate. Proc Natl Acad Sci U S A 2007: 104: 4512-4517.
-
(2007)
Proc Natl Acad Sci U S A
, vol.104
, pp. 4512-4517
-
-
Riley, B.M.1
Mansilla, M.A.2
Ma, J.3
-
12
-
-
34147116715
-
Most rare missense alleles are deleterious in humans: implications for complex disease and association studies
-
Kryukov GV, Pennacchio LA, Sunyaev SR. Most rare missense alleles are deleterious in humans: implications for complex disease and association studies. Am J Hum Genet 2007: 80: 727-739.
-
(2007)
Am J Hum Genet
, vol.80
, pp. 727-739
-
-
Kryukov, G.V.1
Pennacchio, L.A.2
Sunyaev, S.R.3
-
13
-
-
34249890789
-
Orbicularis Oris muscle defects as an expanded phenotypic feature in nonsyndromic cleft lip with or without cleft palate
-
Neiswanger K, Weinberg SM, Rogers CR et al. Orbicularis Oris muscle defects as an expanded phenotypic feature in nonsyndromic cleft lip with or without cleft palate. Am J Med Genet 2007: 143A: 1143-1149.
-
(2007)
Am J Med Genet
, vol.143 A
, pp. 1143-1149
-
-
Neiswanger, K.1
Weinberg, S.M.2
Rogers, C.R.3
-
14
-
-
84860817223
-
Recent explosive human population growth has resulted in an excess of rare genetic variants
-
Keinan A, Clark AG. Recent explosive human population growth has resulted in an excess of rare genetic variants. Science 2012: 336: 740-743.
-
(2012)
Science
, vol.336
, pp. 740-743
-
-
Keinan, A.1
Clark, A.G.2
-
15
-
-
84863556835
-
Evolution and functional impact of rare coding variation from deep sequencing of human exomes
-
Tennessen JA, Bigham AW, O'Connor TD et al. Evolution and functional impact of rare coding variation from deep sequencing of human exomes. Science 2012: 337: 64-69.
-
(2012)
Science
, vol.337
, pp. 64-69
-
-
Tennessen, J.A.1
Bigham, A.W.2
O'Connor, T.D.3
-
16
-
-
61849147400
-
Mutations in BMP4 are associated with subepithelial, microform, and overt cleft lip
-
Suzuki S, Marazita ML, Cooper ME et al. Mutations in BMP4 are associated with subepithelial, microform, and overt cleft lip. Am J Hum Genet 2009: 84: 406-411.
-
(2009)
Am J Hum Genet
, vol.84
, pp. 406-411
-
-
Suzuki, S.1
Marazita, M.L.2
Cooper, M.E.3
-
17
-
-
34547516140
-
Medical sequencing of candidate genes for nonsyndromic cleft lip and palate
-
Vieira AR, Avila JR, Daack-Hirsch S et al. Medical sequencing of candidate genes for nonsyndromic cleft lip and palate. PLoS Genet 2005: 1: e64.
-
(2005)
PLoS Genet
, vol.1
-
-
Vieira, A.R.1
Avila, J.R.2
Daack-Hirsch, S.3
-
18
-
-
82255192920
-
Contribution of MSX1 variants to the risk of non-syndromic cleft lip and palate in a Malay population
-
Salahshourifar I, Halim AS, Wan Sulaiman WA et al. Contribution of MSX1 variants to the risk of non-syndromic cleft lip and palate in a Malay population. J Hum Genet 2011: 56: 755-758.
-
(2011)
J Hum Genet
, vol.56
, pp. 755-758
-
-
Salahshourifar, I.1
Halim, A.S.2
Wan Sulaiman, W.A.3
-
19
-
-
0038545785
-
Complete sequencing shows a role for MSX1 in non-syndromic cleft lip and palate
-
Jezewski PA, Vieira AR, Nishimura C et al. Complete sequencing shows a role for MSX1 in non-syndromic cleft lip and palate. J Med Genet 2003: 40: 399-407.
-
(2003)
J Med Genet
, vol.40
, pp. 399-407
-
-
Jezewski, P.A.1
Vieira, A.R.2
Nishimura, C.3
-
20
-
-
77952880032
-
MSX1 mutations contribute to nonsyndromic cleft lip in a Thai population
-
Tongkobpetch S, Siriwan P, Shotelersuk V. MSX1 mutations contribute to nonsyndromic cleft lip in a Thai population. J Hum Genet 2006: 51: 671-676.
-
(2006)
J Hum Genet
, vol.51
, pp. 671-676
-
-
Tongkobpetch, S.1
Siriwan, P.2
Shotelersuk, V.3
-
21
-
-
31544449192
-
PAX9 and TGFB3 are linked to susceptibility to nonsyndromic cleft lip with or without cleft palate in the Japanese: population-based and family-based candidate gene analyses
-
Ichikawa E, Watanabe A, Nakano Y et al. PAX9 and TGFB3 are linked to susceptibility to nonsyndromic cleft lip with or without cleft palate in the Japanese: population-based and family-based candidate gene analyses. J Hum Genet 2006: 51: 38-46.
-
(2006)
J Hum Genet
, vol.51
, pp. 38-46
-
-
Ichikawa, E.1
Watanabe, A.2
Nakano, Y.3
-
22
-
-
32044471933
-
Contributions of PTCH gene variants to isolated cleft lip and palate
-
Mansilla MA, Cooper ME, Goldstein T et al. Contributions of PTCH gene variants to isolated cleft lip and palate. Cleft Palate Craniofac J 2006: 43: 21-29.
-
(2006)
Cleft Palate Craniofac J
, vol.43
, pp. 21-29
-
-
Mansilla, M.A.1
Cooper, M.E.2
Goldstein, T.3
-
23
-
-
74049116641
-
Mutation analysis of the PVRL1 gene in caucasians with nonsyndromic cleft lip/palate
-
Sozen MA, Hecht JT, Spritz RA. Mutation analysis of the PVRL1 gene in caucasians with nonsyndromic cleft lip/palate. Genet Test Mol Biomarkers 2009: 13: 617-621.
-
(2009)
Genet Test Mol Biomarkers
, vol.13
, pp. 617-621
-
-
Sozen, M.A.1
Hecht, J.T.2
Spritz, R.A.3
-
24
-
-
33845246849
-
PVRL1 variants contribute to non-syndromic cleft lip and palate in multiple populations
-
Avila JR, Jezewski PA, Vieira AR et al. PVRL1 variants contribute to non-syndromic cleft lip and palate in multiple populations. Am J Med Genet A 2006: 140: 2562-2570.
-
(2006)
Am J Med Genet A
, vol.140
, pp. 2562-2570
-
-
Avila, J.R.1
Jezewski, P.A.2
Vieira, A.R.3
-
25
-
-
33645730680
-
Study of the PVRL1 gene in Italian nonsyndromic cleft lip patients with or without cleft palate
-
Scapoli L, Palmieri A, Martinelli M et al. Study of the PVRL1 gene in Italian nonsyndromic cleft lip patients with or without cleft palate. Ann Hum Genet 2006: 70: 410-413.
-
(2006)
Ann Hum Genet
, vol.70
, pp. 410-413
-
-
Scapoli, L.1
Palmieri, A.2
Martinelli, M.3
-
26
-
-
33745489835
-
Genetic evidence for the role of loci at 19q13 in cleft lip and palate
-
Warrington A, Vieira AR, Christensen K et al. Genetic evidence for the role of loci at 19q13 in cleft lip and palate. J Med Genet 2006: 43: e26.
-
(2006)
J Med Genet
, vol.43
-
-
Warrington, A.1
Vieira, A.R.2
Christensen, K.3
-
27
-
-
33646869241
-
A mutation in RYK is a genetic factor for nonsyndromic cleft lip and palate
-
Watanabe A, Akita S, Tin NT et al. A mutation in RYK is a genetic factor for nonsyndromic cleft lip and palate. Cleft Palate Craniofac J 2006: 43: 310-316.
-
(2006)
Cleft Palate Craniofac J
, vol.43
, pp. 310-316
-
-
Watanabe, A.1
Akita, S.2
Tin, N.T.3
-
28
-
-
0032231873
-
Association of MSX1 and TGFB3 with nonsyndromic clefting in humans
-
Lidral AC, Romitti PA, Basart AM et al. Association of MSX1 and TGFB3 with nonsyndromic clefting in humans. Am J Hum Genet 1998: 63: 557-568.
-
(1998)
Am J Hum Genet
, vol.63
, pp. 557-568
-
-
Lidral, A.C.1
Romitti, P.A.2
Basart, A.M.3
|