-
1
-
-
34147122065
-
Mendelian Inheritance in Man and its online version, OMIM
-
DOI 10.1086/514346
-
McKusick VA. 2007. Mendelian Inheritance in Man and its online version, OMIM. Am. J. Hum. Genet. 80:588-604 (Pubitemid 46564398)
-
(2007)
American Journal of Human Genetics
, vol.80
, Issue.4
, pp. 588-604
-
-
McKusick, V.A.1
-
2
-
-
80051809902
-
The importance of rare diseases: From the gene to society
-
Dodge JA, Chigladze T, Donadieu J, et al. 2011. The importance of rare diseases: from the gene to society. Arch. Dis. Child 96:791-92
-
(2011)
Arch. Dis. Child
, vol.96
, pp. 791-792
-
-
Dodge, J.A.1
Chigladze, T.2
Donadieu, J.3
-
3
-
-
29244484489
-
-
European Organization for Rare Diseases (EURODIS)
-
European Organization for Rare Diseases (EURODIS). 2012. What is a rare disease? http://www. eurordis.org/sites/default/files/publications/Fact-Sheet- RD.pdf
-
(2012)
What Is A Rare Disease?
-
-
-
4
-
-
79956118655
-
The impact of single gene and chromosomal disorders on hospital admissions of children and adolescents: A population-based study
-
Dye DE, Brameld KJ, Maxwell S, et al. 2010. The impact of single gene and chromosomal disorders on hospital admissions of children and adolescents: a population-based study. Public Health Genomics 14:153-61
-
(2010)
Public Health Genomics
, vol.14
, pp. 153-161
-
-
Dye, D.E.1
Brameld, K.J.2
Maxwell, S.3
-
5
-
-
0030862457
-
Contribution of birth defects and genetic diseases to pediatric hospitalizations: A population-based study
-
Yoon PW, Olney RS, Khoury MJ, et al. 1997. Contribution of birth defects and genetic diseases to pediatric hospitalizations. A population-based study. Arch. Pediatr. Adolesc. Med. 151:1096-103 (Pubitemid 27483918)
-
(1997)
Archives of Pediatrics and Adolescent Medicine
, vol.151
, Issue.11
, pp. 1096-1103
-
-
Yoon, P.W.1
Olney, R.S.2
Khoury, M.J.3
Sappenfield, W.M.4
Chavez, G.F.5
Taylor, D.6
-
6
-
-
76149122509
-
-
EURORDIS. Overall Results Of The EurordisCare2 Survey
-
EURORDIS. Overall results of the EurordisCare2 Survey. In The Voice of 12, 000 Patients, pp. 42-61. http://www.eurordis.org/publication/voice-12000- patients
-
The Voice of 12, 000 Patients
, pp. 42-61
-
-
-
7
-
-
44849143056
-
Why rare diseases are an important medical and social issue
-
DOI 10.1016/S0140-6736(08)60872-7, PII S0140673608608727
-
Schieppati A, Henter JI, Daina E, et al. 2008. Why rare diseases are an important medical and social issue. Lancet 371:2039-41 (Pubitemid 351799861)
-
(2008)
The Lancet
, vol.371
, Issue.9629
, pp. 2039-2041
-
-
Schieppati, A.1
Henter, J.-I.2
Daina, E.3
Aperia, A.4
-
8
-
-
84884416457
-
Rare-disease genetics in the era of next-generation sequencing: Discovery to translation
-
Boycott KM, Vanstone MR, Bulman DE, et al. 2013. Rare-disease genetics in the era of next-generation sequencing: discovery to translation. Nat. Rev. Genet. 14:681-91
-
(2013)
Nat. Rev. Genet
, vol.14
, pp. 681-691
-
-
Boycott, K.M.1
Vanstone, M.R.2
Bulman, D.E.3
-
9
-
-
80054746492
-
Exome sequencing as a tool for Mendelian disease gene discovery
-
Bamshad MJ, Ng SB, Bigham AW, et al. 2011. Exome sequencing as a tool for Mendelian disease gene discovery. Nat. Rev. Genet. 12:745-55
-
(2011)
Nat. Rev. Genet
, vol.12
, pp. 745-755
-
-
Bamshad, M.J.1
Ng, S.B.2
Bigham, A.W.3
-
10
-
-
70249111091
-
Targeted capture and massively parallel sequencing of 12 human exomes
-
Ng SB, Turner EH, Robertson PD, et al. 2009. Targeted capture and massively parallel sequencing of 12 human exomes. Nature 461:272-76
-
(2009)
Nature
, vol.461
, pp. 272-276
-
-
Ng, S.B.1
Turner, E.H.2
Robertson, P.D.3
-
11
-
-
73349110071
-
Exome sequencing identifies the cause of amendelian disorder
-
Ng SB, Buckingham KJ, Lee C, et al. 2010. Exome sequencing identifies the cause of amendelian disorder. Nat. Genet. 42:30-35
-
(2010)
Nat. Genet
, vol.42
, pp. 30-35
-
-
Ng, S.B.1
Buckingham, K.J.2
Lee, C.3
-
12
-
-
77952888699
-
De novo mutations of SETBP1 cause Schinzel-Giedion syndrome
-
Hoischen A, van Bon BW, Gilissen C, et al. 2010. De novo mutations of SETBP1 cause Schinzel-Giedion syndrome. Nat. Genet. 42:483-85
-
(2010)
Nat. Genet
, vol.42
, pp. 483-485
-
-
Hoischen, A.1
Van Bon, B.W.2
Gilissen, C.3
-
13
-
-
77951799158
-
Analysis of genetic inheritance in a family quartet by wholegenome sequencing
-
Roach JC, Glusman G, Smit AF, et al. 2010. Analysis of genetic inheritance in a family quartet by wholegenome sequencing. Science 328:636-39
-
(2010)
Science
, vol.328
, pp. 636-639
-
-
Roach, J.C.1
Glusman, G.2
Smit, A.F.3
-
14
-
-
77954158128
-
Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene
-
Sobreira NL, Cirulli ET, Avramopoulos D, et al. 2010. Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene. PLoS Genetics 6:e1000991
-
(2010)
PLoS Genetics
, vol.6
-
-
Sobreira, N.L.1
Cirulli, E.T.2
Avramopoulos, D.3
-
15
-
-
33748168273
-
A new syndrome with growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate
-
Guion-Almeida ML, Zechi-Ceide RM, Vendramini S, et al. 2006. A new syndrome with growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate. Clin. Dysmorphol. 15:171-4
-
(2006)
Clin. Dysmorphol
, vol.15
, pp. 171-174
-
-
Guion-Almeida, M.L.1
Zechi-Ceide, R.M.2
Vendramini, S.3
-
16
-
-
84857055806
-
Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly
-
Lines MA, Huang L, Schwartzentruber J, et al. 2012. Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly. Am. J. Hum. Genet. 90:369- 77
-
(2012)
Am. J. Hum. Genet
, vol.90
, pp. 369-377
-
-
Lines, M.A.1
Huang, L.2
Schwartzentruber, J.3
-
17
-
-
84878608609
-
Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome
-
McDonell LM, Mirzaa GM, Alcantara D, et al. 2013. Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome. Nat. Genet. 45:556-62
-
(2013)
Nat. Genet
, vol.45
, pp. 556-562
-
-
McDonell, L.M.1
Mirzaa, G.M.2
Alcantara, D.3
-
19
-
-
0015989659
-
A new overgrowth syndrome with accelerated skeletal maturation, unusual facies, and camptodactyly
-
Weaver DD, Graham CB, Thomas IT, et al. 1974. A new overgrowth syndrome with accelerated skeletal maturation, unusual facies, and camptodactyly. J. Pediatr. 84:547-52
-
(1974)
J. Pediatr
, vol.84
, pp. 547-552
-
-
Weaver, D.D.1
Graham, C.B.2
Thomas, I.T.3
-
21
-
-
84878366242
-
Mutations of DEPDC5 cause autosomal dominant focal epilepsies
-
Ishida S, Picard F, Rudolf G, et al. 2013. Mutations of DEPDC5 cause autosomal dominant focal epilepsies. Nat. Genet. 45:552-55
-
(2013)
Nat. Genet
, vol.45
, pp. 552-555
-
-
Ishida, S.1
Picard, F.2
Rudolf, G.3
-
22
-
-
77954356949
-
Common genetic variation and susceptibility to partial epilepsies: A genome-wide association study
-
Kasperaviciute D, Catarino CB, Heinzen EL, et al. 2010. Common genetic variation and susceptibility to partial epilepsies: a genome-wide association study. Brain 133:2136-47
-
(2010)
Brain
, vol.133
, pp. 2136-2147
-
-
Kasperaviciute, D.1
Catarino, C.B.2
Heinzen, E.L.3
-
23
-
-
84870935092
-
Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly
-
Vuillaumier-Barrot S, Bouchet-Seraphin C, Chelbi M, et al. 2012. Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly. Am. J. Hum. Genet. 91:1135-43
-
(2012)
Am. J. Hum. Genet
, vol.91
, pp. 1135-1143
-
-
Vuillaumier-Barrot, S.1
Bouchet-Seraphin, C.2
Chelbi, M.3
-
24
-
-
84860322514
-
Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan
-
Roscioli T, Kamsteeg EJ, Buysse K, et al. 2012. Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan. Nat. Genet. 44:581-85
-
(2012)
Nat. Genet
, vol.44
, pp. 581-585
-
-
Roscioli, T.1
Kamsteeg, E.J.2
Buysse, K.3
-
25
-
-
84859483150
-
Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population
-
Srour M, Schwartzentruber J, Hamdan FF, et al. 2012. Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population. Am. J. Hum. Genet. 90:693-700
-
(2012)
Am. J. Hum. Genet
, vol.90
, pp. 693-700
-
-
Srour, M.1
Schwartzentruber, J.2
Hamdan, F.F.3
-
26
-
-
84870879483
-
Mutations in DDHD2, encoding an intracellular phospholipase A1, cause a recessive form of complex hereditary spastic paraplegia
-
Schuurs-Hoeijmakers JH, Geraghty MT, Kamsteeg EJ, et al. 2012. Mutations in DDHD2, encoding an intracellular phospholipase A1, cause a recessive form of complex hereditary spastic paraplegia. Am. J. Hum. Genet. 91:1073-81
-
(2012)
Am. J. Hum. Genet
, vol.91
, pp. 1073-1081
-
-
Schuurs-Hoeijmakers, J.H.1
Geraghty, M.T.2
Kamsteeg, E.J.3
-
27
-
-
84872031772
-
EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia
-
Gordon CT, Petit F, Oufadem M, et al. 2012. EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia. J. Med. Genet. 49:737-46
-
(2012)
J. Med. Genet
, vol.49
, pp. 737-746
-
-
Gordon, C.T.1
Petit, F.2
Oufadem, M.3
-
28
-
-
84871680664
-
Mandibulofacial dysostosis with microcephaly caused by EFTUD2 mutations: Expanding the phenotype
-
Luquetti DV, Hing AV, Rieder MJ, et al. 2013. Mandibulofacial dysostosis with microcephaly caused by EFTUD2 mutations: expanding the phenotype. Am. J. Med. Genet. A 161A:108-13
-
(2013)
Am. J. Med. Genet. A
, vol.161 A
, pp. 108-113
-
-
Luquetti, D.V.1
Hing, A.V.2
Rieder, M.J.3
-
30
-
-
84859427243
-
Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome
-
Tsurusaki Y, Okamoto N, Ohashi H, et al. 2012. Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome. Nat. Genet. 44:376-78
-
(2012)
Nat. Genet
, vol.44
, pp. 376-378
-
-
Tsurusaki, Y.1
Okamoto, N.2
Ohashi, H.3
-
31
-
-
84860729127
-
Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome
-
Bernier FP, Caluseriu O, Ng S, et al. 2012. Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome. Am. J. Hum. Genet. 90:925-33
-
(2012)
Am. J. Hum. Genet
, vol.90
, pp. 925-933
-
-
Bernier, F.P.1
Caluseriu, O.2
Ng, S.3
-
32
-
-
79952539053
-
ATP-dependent chromatin remodeling: Genetics, genomics and mechanisms
-
Hargreaves DC, Crabtree GR. 2011. ATP-dependent chromatin remodeling: genetics, genomics and mechanisms. Cell. Res. 21:396-420
-
(2011)
Cell. Res
, vol.21
, pp. 396-420
-
-
Hargreaves, D.C.1
Crabtree, G.R.2
-
33
-
-
84859423484
-
Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome
-
Van Houdt JK, Nowakowska BA, Sousa SB, et al. 2012. Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome. Nat. Genet. 44:445-49
-
(2012)
Nat. Genet
, vol.44
, pp. 445-449
-
-
Van Houdt, J.K.1
Nowakowska, B.A.2
Sousa, S.B.3
-
34
-
-
84860389181
-
A mosaic activating mutation in AKT1 associated with the Proteus syndrome
-
Lindhurst MJ, Sapp JC, Teer JK, et al. 2011. A mosaic activating mutation in AKT1 associated with the Proteus syndrome. N. Engl. J. Med. 365:611-19
-
(2011)
N. Engl. J. Med
, vol.365
, pp. 611-619
-
-
Lindhurst, M.J.1
Sapp, J.C.2
Teer, J.K.3
-
35
-
-
84864400015
-
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes
-
Riviére JB, Mirzaa GM, O'Roak BJ, et al. 2012. De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. Nat. Genet. 44:934-40
-
(2012)
Nat. Genet
, vol.44
, pp. 934-940
-
-
Riviére, J.B.1
Mirzaa, G.M.2
O'Roak, B.J.3
-
36
-
-
84864402732
-
De novo somaticmutations in components of the PI3K-AKT3- mTOR pathway cause hemimegalencephaly
-
Lee JH, HuynhM, Silhavy JL, et al. 2012. De novo somaticmutations in components of the PI3K-AKT3- mTOR pathway cause hemimegalencephaly. Nat. Genet. 44:941-45
-
(2012)
Nat. Genet
, vol.44
, pp. 941-945
-
-
Lee, J.H.1
Huynh, M.2
Silhavy, J.L.3
-
37
-
-
35648977002
-
Smith's recognizable patterns of human malformation
-
6th ed
-
Jones K. 2006. Smith's Recognizable Patterns of Human Malformation. Philadelphia: Elsevier Saunders. 954 pp. 6th ed.
-
(2006)
Philadelphia: Elsevier Saunders
-
-
Jones, K.1
-
38
-
-
80054958114
-
Adopting orphans: Comprehensive genetic testing of Mendelian diseases of childhood by next-generation sequencing
-
Kingsmore SF, Dinwiddie DL, Miller NA, et al. 2011. Adopting orphans: comprehensive genetic testing of Mendelian diseases of childhood by next-generation sequencing. Expert Rev. Mol. Diagn. 11:855-68
-
(2011)
Expert Rev. Mol. Diagn
, vol.11
, pp. 855-868
-
-
Kingsmore, S.F.1
Dinwiddie, D.L.2
Miller, N.A.3
-
39
-
-
79251645624
-
Making a definitive diagnosis: Successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease
-
Worthey EA, Mayer AN, Syverson GD, et al. 2011. Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease. Genet. Med. 13:255-62
-
(2011)
Genet. Med
, vol.13
, pp. 255-262
-
-
Worthey, E.A.1
Mayer, A.N.2
Syverson, G.D.3
-
41
-
-
84873520463
-
Brain dopamine-serotonin vesicular transport disease and its treatment
-
Rilstone JJ, Alkhater RA, Minassian BA. 2012. Brain dopamine-serotonin vesicular transport disease and its treatment. N. Engl. J. Med. 368:543-50
-
(2012)
N. Engl. J. Med
, vol.368
, pp. 543-550
-
-
Rilstone, J.J.1
Alkhater, R.A.2
Minassian, B.A.3
-
42
-
-
79959309141
-
Deep sequencing of patient genomes for disease diagnosis: When will it become routine?
-
Kingsmore SF, Saunders CJ. 2012. Deep sequencing of patient genomes for disease diagnosis: when will it become routine? Sci. Transl. Med. 3:87ps23
-
(2012)
Sci Transl. Med
, vol.3
-
-
Kingsmore, S.F.1
Saunders, C.J.2
-
43
-
-
84867214350
-
Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units
-
Saunders CJ, Miller NA, Soden SE, et al. 2012. Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units. Sci. Transl. Med. 4:154ra35
-
(2012)
Sci. Transl. Med
, vol.4
-
-
Saunders, C.J.1
Miller, N.A.2
Soden, S.E.3
-
44
-
-
84901498714
-
-
EURORDIS
-
EURORDIS: http://www.eurordis.org/
-
-
-
-
45
-
-
84901492381
-
-
FORGE Canada Consortium
-
EURORDIS: http://www.eurordis.org/
-
-
-
-
46
-
-
84901487274
-
-
FORGE Canada Consortium
-
FORGE Canada Consortium: http://www.care4rare.ca
-
-
-
-
47
-
-
84901497861
-
-
International Rare Disease Research Consortium
-
International Rare Disease Research Consortium: http://www.irdirc.org/
-
-
-
-
48
-
-
84901490562
-
-
OMIM
-
OMIM: http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim
-
-
-
-
49
-
-
84901479243
-
-
Orphanet
-
Orphanet: http://www.orpha.net/consor/cgi-bin/index.php
-
-
-
|