-
1
-
-
40849097776
-
Heritability in the genomics era-concepts and misconceptions
-
Visscher PM, Hill WG, Wray NR, (2008) Heritability in the genomics era-concepts and misconceptions. Nat Rev Genet 9: 255266.
-
(2008)
Nat Rev Genet
, vol.9
, pp. 255266
-
-
Visscher, P.M.1
Hill, W.G.2
Wray, N.R.3
-
2
-
-
0021990607
-
Introduction to the study of pre- and postnatal growth in humans: a review
-
Mendez H, (1985) Introduction to the study of pre- and postnatal growth in humans: a review. Am J Med Genet 20: 63-85.
-
(1985)
Am J Med Genet
, vol.20
, pp. 63-85
-
-
Mendez, H.1
-
3
-
-
0036165181
-
Molecular-pathogenetic classification of genetic disorders of the skeleton
-
Superti-Furga A, Bonafe L, Rimoin DL, (2001) Molecular-pathogenetic classification of genetic disorders of the skeleton. Am J Med Genet 106: 282-293.
-
(2001)
Am J Med Genet
, vol.106
, pp. 282-293
-
-
Superti-Furga, A.1
Bonafe, L.2
Rimoin, D.L.3
-
4
-
-
79955042501
-
Nosology and classification of genetic skeletal disorders: 2010 revision
-
Warman ML, Cormier-Daire V, Hall C, Krakow D, Lachman R, et al. (2011) Nosology and classification of genetic skeletal disorders: 2010 revision. Am J Med Genet A 155A: 943-968.
-
(2011)
Am J Med Genet A
, vol.155 A
, pp. 943-968
-
-
Warman, M.L.1
Cormier-Daire, V.2
Hall, C.3
Krakow, D.4
Lachman, R.5
-
5
-
-
0027394259
-
Monitoring dominant germ cell mutations using skeletal dysplasias registered in malformation registries: an international feasibility study
-
Kallen B, Knudsen LB, Mutchinick O, Mastroiacovo P, Lancaster P, et al. (1993) Monitoring dominant germ cell mutations using skeletal dysplasias registered in malformation registries: an international feasibility study. Int J Epidemiol 22: 107-115.
-
(1993)
Int J Epidemiol
, vol.22
, pp. 107-115
-
-
Kallen, B.1
Knudsen, L.B.2
Mutchinick, O.3
Mastroiacovo, P.4
Lancaster, P.5
-
6
-
-
0030940217
-
Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome
-
Rao E, Weiss B, Fukami M, Rump A, Niesler B, et al. (1997) Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome. Nat Genet 16: 54-63.
-
(1997)
Nat Genet
, vol.16
, pp. 54-63
-
-
Rao, E.1
Weiss, B.2
Fukami, M.3
Rump, A.4
Niesler, B.5
-
7
-
-
0036963699
-
Deletions of the homeobox gene SHOX (short stature homeobox) are an important cause of growth failure in children with short stature
-
Rappold GA, Fukami M, Niesler B, Schiller S, Zumkeller W, et al. (2002) Deletions of the homeobox gene SHOX (short stature homeobox) are an important cause of growth failure in children with short stature. J Clin Endocrinol Metab 87: 1402-1406.
-
(2002)
J Clin Endocrinol Metab
, vol.87
, pp. 1402-1406
-
-
Rappold, G.A.1
Fukami, M.2
Niesler, B.3
Schiller, S.4
Zumkeller, W.5
-
8
-
-
69549128470
-
ACMG practice guideline: genetic evaluation of short stature
-
Seaver LH, Irons M, (2009) ACMG practice guideline: genetic evaluation of short stature. Genet Med 11: 465-470.
-
(2009)
Genet Med
, vol.11
, pp. 465-470
-
-
Seaver, L.H.1
Irons, M.2
-
9
-
-
0026447026
-
Poor growth in school entrants as an index of organic disease: the Wessex growth study
-
Voss LD, Mulligan J, Betts PR, Wilkin TJ, (1992) Poor growth in school entrants as an index of organic disease: the Wessex growth study. BMJ 305: 1400-1402.
-
(1992)
BMJ
, vol.305
, pp. 1400-1402
-
-
Voss, L.D.1
Mulligan, J.2
Betts, P.R.3
Wilkin, T.J.4
-
10
-
-
0027370907
-
Evaluation of a district growth screening programme: the Oxford Growth Study
-
Ahmed ML, Allen AD, Sharma A, Macfarlane JA, Dunger DB, (1993) Evaluation of a district growth screening programme: the Oxford Growth Study. Arch Dis Child 69: 361-365.
-
(1993)
Arch Dis Child
, vol.69
, pp. 361-365
-
-
Ahmed, M.L.1
Allen, A.D.2
Sharma, A.3
Macfarlane, J.A.4
Dunger, D.B.5
-
11
-
-
80052260252
-
A copy number variation morbidity map of developmental delay
-
Cooper GM, Coe BP, Girirajan S, Rosenfeld JA, Vu TH, et al. (2011) A copy number variation morbidity map of developmental delay. Nat Genet 43: 838-846.
-
(2011)
Nat Genet
, vol.43
, pp. 838-846
-
-
Cooper, G.M.1
Coe, B.P.2
Girirajan, S.3
Rosenfeld, J.A.4
Vu, T.H.5
-
12
-
-
77952032690
-
Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies
-
Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, et al. (2010) Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet 86: 749-764.
-
(2010)
Am J Hum Genet
, vol.86
, pp. 749-764
-
-
Miller, D.T.1
Adam, M.P.2
Aradhya, S.3
Biesecker, L.G.4
Brothman, A.R.5
-
13
-
-
34247641061
-
Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome)
-
Zweier C, Peippo MM, Hoyer J, Sousa S, Bottani A, et al. (2007) Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome). Am J Hum Genet 80: 994-1001.
-
(2007)
Am J Hum Genet
, vol.80
, pp. 994-1001
-
-
Zweier, C.1
Peippo, M.M.2
Hoyer, J.3
Sousa, S.4
Bottani, A.5
-
14
-
-
4444239112
-
Mutations in a new member of the chromodomain gene family cause CHARGE syndrome
-
Vissers LE, van Ravenswaaij CM, Admiraal R, Hurst JA, de Vries BB, et al. (2004) Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. Nat Genet 36: 955-957.
-
(2004)
Nat Genet
, vol.36
, pp. 955-957
-
-
Vissers, L.E.1
van Ravenswaaij, C.M.2
Admiraal, R.3
Hurst, J.A.4
de Vries, B.B.5
-
15
-
-
33748323156
-
A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism
-
Koolen DA, Vissers LE, Pfundt R, de Leeuw N, Knight SJ, et al. (2006) A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism. Nat Genet 38: 999-1001.
-
(2006)
Nat Genet
, vol.38
, pp. 999-1001
-
-
Koolen, D.A.1
Vissers, L.E.2
Pfundt, R.3
de Leeuw, N.4
Knight, S.J.5
-
16
-
-
33748333194
-
Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome
-
Sharp AJ, Hansen S, Selzer RR, Cheng Z, Regan R, et al. (2006) Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome. Nat Genet 38: 1038-1042.
-
(2006)
Nat Genet
, vol.38
, pp. 1038-1042
-
-
Sharp, A.J.1
Hansen, S.2
Selzer, R.R.3
Cheng, Z.4
Regan, R.5
-
17
-
-
0019484039
-
Normal growth and disorders of growth in children and adolescents (author's transl)
-
Prader A, (1981) [Normal growth and disorders of growth in children and adolescents (author's transl)]. Klin Wochenschr 59: 977-984.
-
(1981)
Klin Wochenschr
, vol.59
, pp. 977-984
-
-
Prader, A.1
-
18
-
-
33845971924
-
Nosology and classification of genetic skeletal disorders: 2006 revision
-
Superti-Furga A, Unger S, (2007) Nosology and classification of genetic skeletal disorders: 2006 revision. Am J Med Genet A 143: 1-18.
-
(2007)
Am J Med Genet A
, vol.143
, pp. 1-18
-
-
Superti-Furga, A.1
Unger, S.2
-
19
-
-
78049350350
-
Common variants at TRAF3IP2 are associated with susceptibility to psoriatic arthritis and psoriasis
-
Huffmeier U, Uebe S, Ekici AB, Bowes J, Giardina E, et al. (2010) Common variants at TRAF3IP2 are associated with susceptibility to psoriatic arthritis and psoriasis. Nat Genet 42: 996-999.
-
(2010)
Nat Genet
, vol.42
, pp. 996-999
-
-
Huffmeier, U.1
Uebe, S.2
Ekici, A.B.3
Bowes, J.4
Giardina, E.5
-
20
-
-
78649264297
-
De novo rates and selection of large copy number variation
-
Itsara A, Wu H, Smith JD, Nickerson DA, Romieu I, et al. (2010) De novo rates and selection of large copy number variation. Genome Res 20: 1469-1481.
-
(2010)
Genome Res
, vol.20
, pp. 1469-1481
-
-
Itsara, A.1
Wu, H.2
Smith, J.D.3
Nickerson, D.A.4
Romieu, I.5
-
21
-
-
78649484216
-
A de novo paradigm for mental retardation
-
Vissers LE, de Ligt J, Gilissen C, Janssen I, Steehouwer M, et al. (2010) A de novo paradigm for mental retardation. Nat Genet 42: 1109-1112.
-
(2010)
Nat Genet
, vol.42
, pp. 1109-1112
-
-
Vissers, L.E.1
de Ligt, J.2
Gilissen, C.3
Janssen, I.4
Steehouwer, M.5
-
22
-
-
84868543309
-
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study
-
Rauch A, Wieczorek D, Graf E, Wieland T, Endele S, et al. (2012) Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. Lancet 380: 1674-82.
-
(2012)
Lancet
, vol.380
, pp. 1674-1682
-
-
Rauch, A.1
Wieczorek, D.2
Graf, E.3
Wieland, T.4
Endele, S.5
-
23
-
-
20544435269
-
3q29 microdeletion syndrome: clinical and molecular characterization of a new syndrome
-
Willatt L, Cox J, Barber J, Cabanas ED, Collins A, et al. (2005) 3q29 microdeletion syndrome: clinical and molecular characterization of a new syndrome. Am J Hum Genet 77: 154-160.
-
(2005)
Am J Hum Genet
, vol.77
, pp. 154-160
-
-
Willatt, L.1
Cox, J.2
Barber, J.3
Cabanas, E.D.4
Collins, A.5
-
24
-
-
56749154242
-
Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities
-
Brunetti-Pierri N, Berg JS, Scaglia F, Belmont J, Bacino CA, et al. (2008) Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities. Nat Genet 40: 1466-1471.
-
(2008)
Nat Genet
, vol.40
, pp. 1466-1471
-
-
Brunetti-Pierri, N.1
Berg, J.S.2
Scaglia, F.3
Belmont, J.4
Bacino, C.A.5
-
25
-
-
84863393160
-
Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome
-
Albers CA, Paul DS, Schulze H, Freson K, Stephens JC, et al. (2012) Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome. Nat Genet 44: 435-432, 435-439, S431-432.
-
(2012)
Nat Genet
, vol.44
, pp. 432-435
-
-
Albers, C.A.1
Paul, D.S.2
Schulze, H.3
Freson, K.4
Stephens, J.C.5
-
26
-
-
43049135929
-
3q29 interstitial microduplication: a new syndrome in a three-generation family
-
Lisi EC, Hamosh A, Doheny KF, Squibb E, Jackson B, et al. (2008) 3q29 interstitial microduplication: a new syndrome in a three-generation family. Am J Med Genet A 146A: 601-609.
-
(2008)
Am J Med Genet A
, vol.146 A
, pp. 601-609
-
-
Lisi, E.C.1
Hamosh, A.2
Doheny, K.F.3
Squibb, E.4
Jackson, B.5
-
27
-
-
38749129175
-
22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome
-
Ben-Shachar S, Ou Z, Shaw CA, Belmont JW, Patel MS, et al. (2008) 22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome. Am J Hum Genet 82: 214-221.
-
(2008)
Am J Hum Genet
, vol.82
, pp. 214-221
-
-
Ben-Shachar, S.1
Ou, Z.2
Shaw, C.A.3
Belmont, J.W.4
Patel, M.S.5
-
28
-
-
0031924716
-
Growth hormone deficiency in patients with 22q11.2 deletion: expanding the phenotype
-
Weinzimer SA, McDonald-McGinn DM, Driscoll DA, Emanuel BS, Zackai EH, et al. (1998) Growth hormone deficiency in patients with 22q11.2 deletion: expanding the phenotype. Pediatrics 101: 929-932.
-
(1998)
Pediatrics
, vol.101
, pp. 929-932
-
-
Weinzimer, S.A.1
McDonald-McGinn, D.M.2
Driscoll, D.A.3
Emanuel, B.S.4
Zackai, E.H.5
-
29
-
-
0035746352
-
Auxological evaluation in patients with DiGeorge/velocardiofacial syndrome (deletion 22q11.2 syndrome)
-
Digilio MC, Marino B, Cappa M, Cambiaso P, Giannotti A, et al. (2001) Auxological evaluation in patients with DiGeorge/velocardiofacial syndrome (deletion 22q11.2 syndrome). Genet Med 3: 30-33.
-
(2001)
Genet Med
, vol.3
, pp. 30-33
-
-
Digilio, M.C.1
Marino, B.2
Cappa, M.3
Cambiaso, P.4
Giannotti, A.5
-
30
-
-
67349238710
-
Another patient with a de novo deletion further delineates the 2q33.1 microdeletion syndrome
-
de Ravel TJ, Balikova I, Thiry P, Vermeesch JR, Frijns JP, (2009) Another patient with a de novo deletion further delineates the 2q33.1 microdeletion syndrome. Eur J Med Genet 52: 120-122.
-
(2009)
Eur J Med Genet
, vol.52
, pp. 120-122
-
-
de Ravel, T.J.1
Balikova, I.2
Thiry, P.3
Vermeesch, J.R.4
Frijns, J.P.5
-
32
-
-
77957947562
-
Hundreds of variants clustered in genomic loci and biological pathways affect human height
-
Lango Allen H, Estrada K, Lettre G, Berndt SI, Weedon MN, et al. (2010) Hundreds of variants clustered in genomic loci and biological pathways affect human height. Nature 467: 832-838.
-
(2010)
Nature
, vol.467
, pp. 832-838
-
-
Lango Allen, H.1
Estrada, K.2
Lettre, G.3
Berndt, S.I.4
Weedon, M.N.5
-
33
-
-
77956586071
-
LocusZoom: regional visualization of genome-wide association scan results
-
Pruim RJ, Welch RP, Sanna S, Teslovich TM, Chines PS, et al. (2010) LocusZoom: regional visualization of genome-wide association scan results. Bioinformatics 26: 2336-2337.
-
(2010)
Bioinformatics
, vol.26
, pp. 2336-2337
-
-
Pruim, R.J.1
Welch, R.P.2
Sanna, S.3
Teslovich, T.M.4
Chines, P.S.5
-
34
-
-
0031663782
-
Position effect in human genetic disease
-
Kleinjan DJ, van Heyningen V, (1998) Position effect in human genetic disease. Hum Mol Genet 7: 1611-1618.
-
(1998)
Hum Mol Genet
, vol.7
, pp. 1611-1618
-
-
Kleinjan, D.J.1
van Heyningen, V.2
-
35
-
-
64149103056
-
Duplications involving a conserved regulatory element downstream of BMP2 are associated with brachydactyly type A2
-
Dathe K, Kjaer KW, Brehm A, Meinecke P, Nurnberg P, et al. (2009) Duplications involving a conserved regulatory element downstream of BMP2 are associated with brachydactyly type A2. Am J Hum Genet 84: 483-492.
-
(2009)
Am J Hum Genet
, vol.84
, pp. 483-492
-
-
Dathe, K.1
Kjaer, K.W.2
Brehm, A.3
Meinecke, P.4
Nurnberg, P.5
-
36
-
-
70350371278
-
A new diagnostic workflow for patients with mental retardation and/or multiple congenital abnormalities: test arrays first
-
Gijsbers AC, Lew JY, Bosch CA, Schuurs-Hoeijmakers JH, van Haeringen A, et al. (2009) A new diagnostic workflow for patients with mental retardation and/or multiple congenital abnormalities: test arrays first. Eur J Hum Genet 17: 1394-1402.
-
(2009)
Eur J Hum Genet
, vol.17
, pp. 1394-1402
-
-
Gijsbers, A.C.1
Lew, J.Y.2
Bosch, C.A.3
Schuurs-Hoeijmakers, J.H.4
van Haeringen, A.5
-
37
-
-
34548292504
-
PLINK: a tool set for whole-genome association and population-based linkage analyses
-
Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MA, et al. (2007) PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 81: 559-575.
-
(2007)
Am J Hum Genet
, vol.81
, pp. 559-575
-
-
Purcell, S.1
Neale, B.2
Todd-Brown, K.3
Thomas, L.4
Ferreira, M.A.5
-
38
-
-
77956695750
-
GPFrontend and GPGraphics: graphical analysis tools for genetic association studies
-
Uebe S, Pasutto F, Krumbiegel M, Schanze D, Ekici AB, et al. (2010) GPFrontend and GPGraphics: graphical analysis tools for genetic association studies. BMC Bioinformatics 11: 472.
-
(2010)
BMC Bioinformatics
, vol.11
, pp. 472
-
-
Uebe, S.1
Pasutto, F.2
Krumbiegel, M.3
Schanze, D.4
Ekici, A.B.5
|