-
1
-
-
85007138010
-
Genetic identification of familial hypercho-lesterolemia within a single U.S. health care system
-
Abul-Husn, N. S., K. Manickam, L. K. Jones, E. A. Wright, D. N. Hartzel et al., 2016 Genetic identification of familial hypercho-lesterolemia within a single U.S. health care system. Science 354: aaf7000.
-
(2016)
Science
, vol.354
-
-
Abul-Husn, N.S.1
Manickam, K.2
Jones, L.K.3
Wright, E.A.4
Hartzel, D.N.5
-
2
-
-
0034425405
-
Recessive Robinow syndrome, allelic to dominant bra-chydactyly type B, is caused by mutation of ROR2
-
Afzal, A. R., A. Rajab, C. D. Fenske, M. Oldridge, N. Elanko et al., 2000 Recessive Robinow syndrome, allelic to dominant bra-chydactyly type B, is caused by mutation of ROR2. Nat. Genet. 25: 419–422.
-
(2000)
Nat. Genet
, vol.25
, pp. 419-422
-
-
Afzal, A.R.1
Rajab, A.2
Fenske, C.D.3
Oldridge, M.4
Elanko, N.5
-
3
-
-
35748951614
-
Direct selection of human genomic loci by microarray hybridization
-
Albert, T. J., M. N. Molla, D. M. Muzny, L. Nazareth, D. Wheeler et al., 2007 Direct selection of human genomic loci by microarray hybridization. Nat. Methods 4: 903–905.
-
(2007)
Nat. Methods
, vol.4
, pp. 903-905
-
-
Albert, T.J.1
Molla, M.N.2
Muzny, D.M.3
Nazareth, L.4
Wheeler, D.5
-
4
-
-
59349107707
-
Evolutionary mutant models for human disease
-
Albertson, R. C., W. Cresko, H. W. Detrich, III, and J. H. Postlethwait, 2009 Evolutionary mutant models for human disease. Trends Genet. 25: 74–81.
-
(2009)
Trends Genet
, vol.25
, pp. 74-81
-
-
Albertson, R.C.1
Cresko, W.2
Detrich, H.W.3
Postlethwait, J.H.4
-
5
-
-
84937725366
-
A gain-of-function mutation in NALCN in a child with intellectual disability, ataxia, and arthrogryposis
-
Aoyagi, K., E. Rossignol, F. F. Hamdan, B. Mulcahy, L. Xie et al., 2015 A gain-of-function mutation in NALCN in a child with intellectual disability, ataxia, and arthrogryposis. Hum. Mutat. 36: 753–757.
-
(2015)
Hum. Mutat
, vol.36
, pp. 753-757
-
-
Aoyagi, K.1
Rossignol, E.2
Hamdan, F.F.3
Mulcahy, B.4
Xie, L.5
-
6
-
-
84890038202
-
ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption
-
Ashraf, S., H. Y. Gee, S. Woerner, L. X. Xie, V. Vega-Warner et al., 2013 ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption. J. Clin. Invest. 123: 5179–5189.
-
(2013)
J. Clin. Invest
, vol.123
, pp. 5179-5189
-
-
Ashraf, S.1
Gee, H.Y.2
Woerner, S.3
Xie, L.X.4
Vega-Warner, V.5
-
7
-
-
75749129360
-
Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C
-
Auer-Grumbach, M., A. Olschewski, L. Papic, H. Kremer, M. E. McEntagart et al., 2010 Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C. Nat. Genet. 42: 160–164.
-
(2010)
Nat. Genet
, vol.42
, pp. 160-164
-
-
Auer-Grumbach, M.1
Olschewski, A.2
Papic, L.3
Kremer, H.4
McEntagart, M.E.5
-
8
-
-
77953565946
-
Whole exome capture in solution with 3 Gbp of data
-
Bainbridge, M. N., M. Wang, D. L. Burgess, C. Kovar, M. J. Rodesch et al., 2010 Whole exome capture in solution with 3 Gbp of data. Genome Biol. 11: R62.
-
(2010)
Genome Biol
, vol.11
, pp. 62
-
-
Bainbridge, M.N.1
Wang, M.2
Burgess, D.L.3
Kovar, C.4
Rodesch, M.J.5
-
9
-
-
0035914137
-
Nobel prize in physiology or medicine. Cycling toward Stockholm
-
Balter, M., and G. Vogel, 2001 Nobel prize in physiology or medicine. Cycling toward Stockholm. Science 294: 502–503.
-
(2001)
Science
, vol.294
, pp. 502-503
-
-
Balter, M.1
Vogel, G.2
-
10
-
-
84862683078
-
The Centers for Mendelian Genomics: A new large-scale initiative to identify the genes underlying rare Mendelian conditions
-
Bamshad, M. J., J. A. Shendure, D. Valle, A. Hamosh, J. R. Lupski et al., 2012 The Centers for Mendelian Genomics: a new large-scale initiative to identify the genes underlying rare Mendelian conditions. Am. J. Med. Genet. A. 158A: 1523–1525.
-
(2012)
Am. J. Med. Genet. A
, vol.158
, pp. 1523-1525
-
-
Bamshad, M.J.1
Shendure, J.A.2
Valle, D.3
Hamosh, A.4
Lupski, J.R.5
-
11
-
-
31844440878
-
Functional genomics reveals genes involved in protein secretion and Golgi organization
-
Bard, F., L. Casano, A. Mallabiabarrena, E. Wallace, K. Saito et al., 2006 Functional genomics reveals genes involved in protein secretion and Golgi organization. Nature 439: 604–607.
-
(2006)
Nature
, vol.439
, pp. 604-607
-
-
Bard, F.1
Casano, L.2
Mallabiabarrena, A.3
Wallace, E.4
Saito, K.5
-
12
-
-
85014386106
-
A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development
-
Bashamboo, A., P. A. Donohoue, E. Vilain, S. Rojo, P. Calvel et al., 2016 A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development. Hum. Mol. Genet. 25: 3446–3453.
-
(2016)
Hum. Mol. Genet
, vol.25
, pp. 3446-3453
-
-
Bashamboo, A.1
Donohoue, P.A.2
Vilain, E.3
Rojo, S.4
Calvel, P.5
-
13
-
-
85018263687
-
Initiating an undiagnosed diseases program in the Western Australian public health system
-
Baynam, G., S. Broley, A. Bauskis, N. Pachter, F. McKenzie et al., 2017 Initiating an undiagnosed diseases program in the Western Australian public health system. Orphanet J. Rare Dis. 12: 83.
-
(2017)
Orphanet J. Rare Dis
, vol.12
, pp. 83
-
-
Baynam, G.1
Broley, S.2
Bauskis, A.3
Pachter, N.4
McKenzie, F.5
-
14
-
-
84902173195
-
FORGE Canada Consortium: Outcomes of a 2-year national rare-disease gene-discovery project
-
Beaulieu, C. L., J. Majewski, J. Schwartzentruber, M. E. Samuels, B. A. Fernandez et al., 2014 FORGE Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery project. Am. J. Hum. Genet. 94: 809–817.
-
(2014)
Am. J. Hum. Genet
, vol.94
, pp. 809-817
-
-
Beaulieu, C.L.1
Majewski, J.2
Schwartzentruber, J.3
Samuels, M.E.4
Fernandez, B.A.5
-
15
-
-
84948451733
-
Morgan’s legacy: Fruit flies and the functional annotation of conserved genes
-
Bellen, H. J., and S. Yamamoto, 2015 Morgan’s legacy: fruit flies and the functional annotation of conserved genes. Cell 163: 12–14.
-
(2015)
Cell
, vol.163
, pp. 12-14
-
-
Bellen, H.J.1
Yamamoto, S.2
-
16
-
-
77953812408
-
100 years of Drosophila research and its impact on vertebrate neuroscience: a history lesson for the future
-
Bellen, H. J., C. Tong, and H. Tsuda, 2010 100 years of Drosophila research and its impact on vertebrate neuroscience: a history lesson for the future. Nat. Rev. Neurosci. 11: 514–522.
-
(2010)
Nat. Rev. Neurosci
, vol.11
, pp. 514-522
-
-
Bellen, H.J.1
Tong, C.2
Tsuda, H.3
-
17
-
-
85021985283
-
Taking stock of the Drosophila research ecosystem
-
Bilder, D., and K. D. Irvine, 2017 Taking stock of the Drosophila research ecosystem. Genetics 206: 1227–1236.
-
(2017)
Genetics
, vol.206
, pp. 1227-1236
-
-
Bilder, D.1
Irvine, K.D.2
-
18
-
-
84884890589
-
A nondegenerate code of deleterious variants in Mendelian loci contributes to complex disease risk
-
Blair, D. R., C. S. Lyttle, J. M. Mortensen, C. F. Bearden, A. B. Jensen et al., 2013 A nondegenerate code of deleterious variants in Mendelian loci contributes to complex disease risk. Cell 155: 70–80.
-
(2013)
Cell
, vol.155
, pp. 70-80
-
-
Blair, D.R.1
Lyttle, C.S.2
Mortensen, J.M.3
Bearden, C.F.4
Jensen, A.B.5
-
19
-
-
84886298325
-
Assaying hematopoiesis using zebrafish
-
Boatman, S., F. Barrett, S. Satishchandran, L. Jing, I. Shestopalov et al., 2013 Assaying hematopoiesis using zebrafish. Blood Cells Mol. Dis. 51: 271–276.
-
(2013)
Blood Cells Mol. Dis
, vol.51
, pp. 271-276
-
-
Boatman, S.1
Barrett, F.2
Satishchandran, S.3
Jing, L.4
Shestopalov, I.5
-
20
-
-
85008498816
-
The sustained impact of model organisms-in genetics and epigenetics
-
Bonini, N. M., and S. L. Berger, 2017 The sustained impact of model organisms-in genetics and epigenetics. Genetics 205: 1–4.
-
(2017)
Genetics
, vol.205
, pp. 1-4
-
-
Bonini, N.M.1
Berger, S.L.2
-
21
-
-
84960192727
-
The spotted gar genome illuminates vertebrate evolution and facilitates human-teleost comparisons
-
Braasch, I., A. R. Gehrke, J. J. Smith, K. Kawasaki, T. Manousaki et al., 2016 The spotted gar genome illuminates vertebrate evolution and facilitates human-teleost comparisons. Nat. Genet. 48: 427–437.
-
(2016)
Nat. Genet
, vol.48
, pp. 427-437
-
-
Braasch, I.1
Gehrke, A.R.2
Smith, J.J.3
Kawasaki, K.4
Manousaki, T.5
-
22
-
-
84926261697
-
Mutations in DVL1 cause an osteosclerotic form of Robinow syndrome
-
Bunn, K. J., P. Daniel, H. S. Rosken, A. C. O’Neill, S. R. Cameron-Christie et al., 2015 Mutations in DVL1 cause an osteosclerotic form of Robinow syndrome. Am. J. Hum. Genet. 96: 623–630.
-
(2015)
Am. J. Hum. Genet
, vol.96
, pp. 623-630
-
-
Bunn, K.J.1
Daniel, P.2
Rosken, H.S.3
O’Neill, A.C.4
Cameron-Christie, S.R.5
-
23
-
-
84941874149
-
PhenomeCentral: A portal for phenotypic and genotypic matchmaking of patients with rare genetic diseases
-
Buske, O. J., M. Girdea, S. Dumitriu, B. Gallinger, T. Hartley et al., 2015 PhenomeCentral: a portal for phenotypic and genotypic matchmaking of patients with rare genetic diseases. Hum. Mutat. 36: 931–940.
-
(2015)
Hum. Mutat
, vol.36
, pp. 931-940
-
-
Buske, O.J.1
Girdea, M.2
Dumitriu, S.3
Gallinger, B.4
Hartley, T.5
-
24
-
-
79953056443
-
The histone methyltransferase SETDB1 is recur-rently amplified in melanoma and accelerates its onset
-
Ceol, C. J., Y. Houvras, J. Jane-Valbuena, S. Bilodeau, D. A. Orlando et al., 2011 The histone methyltransferase SETDB1 is recur-rently amplified in melanoma and accelerates its onset. Nature 471: 513–517.
-
(2011)
Nature
, vol.471
, pp. 513-517
-
-
Ceol, C.J.1
Houvras, Y.2
Jane-Valbuena, J.3
Bilodeau, S.4
Orlando, D.A.5
-
25
-
-
85009739483
-
A syndromic neurodevelopmental disorder caused by de novo variants in EBF3
-
Chao, H. T., M. Davids, E. Burke, J. G. Pappas, J. A. Rosenfeld et al., 2017a A syndromic neurodevelopmental disorder caused by de novo variants in EBF3. Am. J. Hum. Genet. 100: 128–137.
-
(2017)
Am. J. Hum. Genet
, vol.100
, pp. 128-137
-
-
Chao, H.T.1
Davids, M.2
Burke, E.3
Pappas, J.G.4
Rosenfeld, J.A.5
-
26
-
-
85020652497
-
Building dialogues between clinical and biomedical research through cross-species collaborations
-
Chao, H. T., L. Liu, and H. J. Bellen, 2017b Building dialogues between clinical and biomedical research through cross-species collaborations. Semin. Cell Dev. Biol. pii: S1084–9521(17)30260-4.
-
(2017)
Semin. Cell Dev. Biol
, vol.1084-9521
, Issue.17
, pp. 30260-30264
-
-
Chao, H.T.1
Liu, L.2
Bellen, H.J.3
-
27
-
-
84941879602
-
Facilitating collaboration in rare genetic disorders through effective matchmaking in DECIPHER
-
Chatzimichali, E. A., S. Brent, B. Hutton, D. Perrett, C. F. Wright et al., 2015 Facilitating collaboration in rare genetic disorders through effective matchmaking in DECIPHER. Hum. Mutat. 36: 941–949.
-
(2015)
Hum. Mutat
, vol.36
, pp. 941-949
-
-
Chatzimichali, E.A.1
Brent, S.2
Hutton, B.3
Perrett, D.4
Wright, C.F.5
-
28
-
-
84938965200
-
The genetic basis of Mendelian phenotypes: Discoveries, challenges, and opportunities
-
Chong, J. X., K. J. Buckingham, S. N. Jhangiani, C. Boehm, N. Sobreira et al., 2015 The genetic basis of Mendelian phenotypes: discoveries, challenges, and opportunities. Am. J. Hum. Genet. 97: 199–215.
-
(2015)
Am. J. Hum. Genet
, vol.97
, pp. 199-215
-
-
Chong, J.X.1
Buckingham, K.J.2
Jhangiani, S.N.3
Boehm, C.4
Sobreira, N.5
-
29
-
-
84962045269
-
Recessive inactivating mutations in TBCK, encoding a Rab GTPase-activating protein, cause severe infantile syndromic encephalopathy
-
Chong, J. X., V. Caputo, I. G. Phelps, L. Stella, L. Worgan et al., 2016a Recessive inactivating mutations in TBCK, encoding a Rab GTPase-activating protein, cause severe infantile syndromic encephalopathy. Am. J. Hum. Genet. 98: 772–781.
-
(2016)
Am. J. Hum. Genet
, vol.98
, pp. 772-781
-
-
Chong, J.X.1
Caputo, V.2
Phelps, I.G.3
Stella, L.4
Worgan, L.5
-
30
-
-
84981187152
-
Gene discovery for Mendelian conditions via social networking: De novo variants in KDM1A cause developmental delay and distinctive facial features
-
Chong, J. X., J. H. Yu, P. Lorentzen, K. M. Park, S. M. Jamal et al., 2016b Gene discovery for Mendelian conditions via social networking: de novo variants in KDM1A cause developmental delay and distinctive facial features. Genet. Med. 18: 788–795.
-
(2016)
Genet. Med
, vol.18
, pp. 788-795
-
-
Chong, J.X.1
Yu, J.H.2
Lorentzen, P.3
Park, K.M.4
Jamal, S.M.5
-
31
-
-
0038641811
-
Mice lacking the giant protocadherin mFAT1 exhibit renal slit junction abnormalities and a partially penetrant cyclopia and anoph-thalmia phenotype
-
Ciani, L., A. Patel, N. D. Allen, and C. ffrench-Constant, 2003 Mice lacking the giant protocadherin mFAT1 exhibit renal slit junction abnormalities and a partially penetrant cyclopia and anoph-thalmia phenotype. Mol. Cell. Biol. 23: 3575–3582.
-
(2003)
Mol. Cell. Biol
, vol.23
, pp. 3575-3582
-
-
Ciani, L.1
Patel, A.2
Allen, N.D.3
Ffrench-Constant, C.4
-
32
-
-
0014683485
-
Abnormal electroretinogram from a Drosophila mutant
-
Cosens, D. J., and A. Manning, 1969 Abnormal electroretinogram from a Drosophila mutant. Nature 224: 285–287.
-
(1969)
Nature
, vol.224
, pp. 285-287
-
-
Cosens, D.J.1
Manning, A.2
-
33
-
-
78650037203
-
Deep resequencing reveals excess rare recent variants consistent with explosive population growth
-
Coventry, A., L. M. Bull-Otterson, X. Liu, A. G. Clark, T. J. Maxwell et al., 2010 Deep resequencing reveals excess rare recent variants consistent with explosive population growth. Nat. Commun. 1: 131.
-
(2010)
Nat. Commun
, vol.1
, pp. 131
-
-
Coventry, A.1
Bull-Otterson, L.M.2
Liu, X.3
Clark, A.G.4
Maxwell, T.J.5
-
34
-
-
77955006540
-
TRPV4-pathy, a novel channelopathy affecting diverse systems
-
Dai, J., T. J. Cho, S. Unger, E. Lausch, G. Nishimura et al., 2010 TRPV4-pathy, a novel channelopathy affecting diverse systems. J. Hum. Genet. 55: 400–402.
-
(2010)
J. Hum. Genet
, vol.55
, pp. 400-402
-
-
Dai, J.1
Cho, T.J.2
Unger, S.3
Lausch, E.4
Nishimura, G.5
-
35
-
-
84908378594
-
Interpreting human genetic variation with in vivo zebrafish assays
-
Davis, E. E., S. Frangakis, and N. Katsanis, 2014 Interpreting human genetic variation with in vivo zebrafish assays. Biochim. Biophys. Acta 1842: 1960–1970.
-
(2014)
Biochim. Biophys. Acta
, vol.1842
, pp. 1960-1970
-
-
Davis, E.E.1
Frangakis, S.2
Katsanis, N.3
-
36
-
-
84924666082
-
Large-scale discovery of novel genetic causes of developmental disorders
-
Deciphering-Developmental-Disorders-Study, 2015 Large-scale discovery of novel genetic causes of developmental disorders. Nature 519: 223–228.
-
(2015)
Nature
, vol.519
, pp. 223-228
-
-
-
37
-
-
26444603772
-
Two rounds of whole genome duplication in the ancestral vertebrate
-
Dehal, P., and J. L. Boore, 2005 Two rounds of whole genome duplication in the ancestral vertebrate. PLoS Biol. 3: e314.
-
(2005)
Plos Biol
, vol.3
-
-
Dehal, P.1
Boore, J.L.2
-
38
-
-
75749083221
-
Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4
-
Deng, H. X., C. J. Klein, J. Yan, Y. Shi, Y. Wu et al., 2010 Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4. Nat. Genet. 42: 165–169.
-
(2010)
Nat. Genet
, vol.42
, pp. 165-169
-
-
Deng, H.X.1
Klein, C.J.2
Yan, J.3
Shi, Y.4
Wu, Y.5
-
39
-
-
85007028930
-
Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the Discov EHR study
-
Dewey, F. E., M. F. Murray, J. D. Overton, L. Habegger, J. B. Leader et al., 2016 Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the Discov EHR study. Science 354: aaf6814.
-
(2016)
Science
, vol.354
-
-
Dewey, F.E.1
Murray, M.F.2
Overton, J.D.3
Habegger, L.4
Leader, J.B.5
-
40
-
-
39749151652
-
MicroRNA Mirn140 modulates Pdgf signaling during palatogenesis
-
Eberhart, J. K., X. He, M. E. Swartz, Y. L. Yan, H. Song et al., 2008 MicroRNA Mirn140 modulates Pdgf signaling during palatogenesis. Nat. Genet. 40: 290–298.
-
(2008)
Nat. Genet
, vol.40
, pp. 290-298
-
-
Eberhart, J.K.1
He, X.2
Swartz, M.E.3
Yan, Y.L.4
Song, H.5
-
41
-
-
84890231680
-
Beyond GWASs: Illuminating the dark road from association to function
-
Edwards, S. L., J. Beesley, J. D. French, and A. M. Dunning, 2013 Beyond GWASs: illuminating the dark road from association to function. Am. J. Hum. Genet. 93: 779–797.
-
(2013)
Am. J. Hum. Genet
, vol.93
, pp. 779-797
-
-
Edwards, S.L.1
Beesley, J.2
French, J.D.3
Dunning, A.M.4
-
42
-
-
85016107847
-
Lessons learned from additional research analyses of unsolved clinical exome cases
-
Eldomery, M. K., Z. Coban-Akdemir, T. Harel, J. A. Rosenfeld, T. Gambin et al., 2017 Lessons learned from additional research analyses of unsolved clinical exome cases. Genome Med. 9: 26.
-
(2017)
Genome Med
, vol.9
, pp. 26
-
-
Eldomery, M.K.1
Coban-Akdemir, Z.2
Harel, T.3
Rosenfeld, J.A.4
Gambin, T.5
-
43
-
-
0022497852
-
Genetic control of programmed cell death in the nematode C. Elegans
-
Ellis, H. M., and H. R. Horvitz, 1986 Genetic control of programmed cell death in the nematode C. elegans. Cell 44: 817–829.
-
(1986)
Cell
, vol.44
, pp. 817-829
-
-
Ellis, H.M.1
Horvitz, H.R.2
-
44
-
-
84939635642
-
Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: Results from 500 unselected families with undiagnosed genetic conditions
-
Farwell, K. D., L. Shahmirzadi, D. El-Khechen, Z. Powis, E. C. Chao et al., 2015 Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions. Genet. Med. 17: 578–586.
-
(2015)
Genet. Med
, vol.17
, pp. 578-586
-
-
Farwell, K.D.1
Shahmirzadi, L.2
El-Khechen, D.3
Powis, Z.4
Chao, E.C.5
-
45
-
-
0032545933
-
Potent and specific genetic interference by double-stranded RNA in Caenorhabditis elegans
-
Fire, A., S. Xu, M. K. Montgomery, S. A. Kostas, S. E. Driver et al., 1998 Potent and specific genetic interference by double-stranded RNA in Caenorhabditis elegans. Nature 391: 806–811.
-
(1998)
Nature
, vol.391
, pp. 806-811
-
-
Fire, A.1
Xu, S.2
Montgomery, M.K.3
Kostas, S.A.4
Driver, S.E.5
-
46
-
-
0032893932
-
Preservation of duplicate genes by complementary, degenerative mutations
-
Force, A., M. Lynch, F. B. Pickett, A. Amores, Y. L. Yan et al., 1999 Preservation of duplicate genes by complementary, degenerative mutations. Genetics 151: 1531–1545.
-
(1999)
Genetics
, vol.151
, pp. 1531-1545
-
-
Force, A.1
Lynch, M.2
Pickett, F.B.3
Amores, A.4
Yan, Y.L.5
-
47
-
-
85028106080
-
The National Institutes of Health Undiagnosed Diseases Program: Insights into rare diseases
-
Gahl, W. A., T. C. Markello, C. Toro, K. F. Fajardo, M. Sincan et al., 2012 The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases. Genet. Med. 14: 51–59.
-
(2012)
Genet. Med
, vol.14
, pp. 51-59
-
-
Gahl, W.A.1
Markello, T.C.2
Toro, C.3
Fajardo, K.F.4
Sincan, M.5
-
48
-
-
84956643608
-
The NIH undiagnosed diseases program and network: Applications to modern medicine
-
Gahl, W. A., J. J. Mulvihill, C. Toro, T. C. Markello, A. L. Wise et al., 2016 The NIH undiagnosed diseases program and network: applications to modern medicine. Mol. Genet. Metab. 117: 393–400.
-
(2016)
Mol. Genet. Metab
, vol.117
, pp. 393-400
-
-
Gahl, W.A.1
Mulvihill, J.J.2
Toro, C.3
Markello, T.C.4
Wise, A.L.5
-
49
-
-
85016091744
-
Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort
-
Gambin, T., Z. C. Akdemir, B. Yuan, S. Gu, T. Chiang et al., 2017 Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort. Nucleic Acids Res. 45: 1633–1648.
-
(2017)
Nucleic Acids Res
, vol.45
, pp. 1633-1648
-
-
Gambin, T.1
Akdemir, Z.C.2
Yuan, B.3
Gu, S.4
Chiang, T.5
-
50
-
-
84926500255
-
An estimate of the average number of recessive lethal mutations carried by humans
-
Gao, Z., D. Waggoner, M. Stephens, C. Ober, and M. Przeworski, 2015 An estimate of the average number of recessive lethal mutations carried by humans. Genetics 199: 1243–1254.
-
(2015)
Genetics
, vol.199
, pp. 1243-1254
-
-
Gao, Z.1
Waggoner, D.2
Stephens, M.3
Ober, C.4
Przeworski, M.5
-
51
-
-
84937970956
-
Whole exome sequencing identifies de novo heterozygous CAV1 mutations associated with a novel neonatal onset lipodystrophy syndrome
-
Garg, A., M. Kircher, M. Del Campo, R. S. Amato, A. K. Agarwal et al., 2015 Whole exome sequencing identifies de novo heterozygous CAV1 mutations associated with a novel neonatal onset lipodystrophy syndrome. Am. J. Med. Genet. A. 167A: 1796–1806.
-
(2015)
Am. J. Med. Genet. A
, vol.167
, pp. 1796-1806
-
-
Garg, A.1
Kircher, M.2
Del Campo, M.3
Amato, R.S.4
Agarwal, A.K.5
-
52
-
-
50749093820
-
The incidence of alkaptonuria: A study in chemical individuality
-
Garrod, A. E., 1902 The incidence of alkaptonuria: a study in chemical individuality. Lancet ii: 1616–1620.
-
(1902)
Lancet Ii
, pp. 1616-1620
-
-
Garrod, A.E.1
-
53
-
-
85042840635
-
-
Garrod, A. E., 1923 Inborn Errors of Metabolism. Henry Frowde and Hodder & Stoughton, London.
-
Garrod, A. E., 1923 Inborn Errors of Metabolism. Henry Frowde and Hodder & Stoughton, London.
-
-
-
-
54
-
-
84959378120
-
FAT1 mutations cause a glomerulotubular nephropathy
-
Gee, H. Y., C. E. Sadowski, P. K. Aggarwal, J. D. Porath, T. A. Yakulov et al., 2016 FAT1 mutations cause a glomerulotubular nephropathy. Nat. Commun. 7: 10822.
-
(2016)
Nat. Commun
, vol.7
-
-
Gee, H.Y.1
Sadowski, C.E.2
Aggarwal, P.K.3
Porath, J.D.4
Yakulov, T.A.5
-
56
-
-
84941044607
-
Genenames.Org: The HGNC resources in 2015
-
Gray, K. A., B. Yates, R. L. Seal, M. W. Wright, and E. A. Bruford, 2015 Genenames.org: the HGNC resources in 2015. Nucleic Acids Res. 43: D1079–D1085.
-
(2015)
Nucleic Acids Res
, vol.43
, pp. D1079-D1085
-
-
Gray, K.A.1
Yates, B.2
Seal, R.L.3
Wright, M.W.4
Bruford, E.A.5
-
57
-
-
78650724753
-
Hippo signaling: Growth control and beyond
-
Halder, G., and R. L. Johnson, 2011 Hippo signaling: growth control and beyond. Development 138: 9–22.
-
(2011)
Development
, vol.138
, pp. 9-22
-
-
Halder, G.1
Johnson, R.L.2
-
58
-
-
84875514203
-
PhenoDB: A new web-based tool for the collection, storage, and analysis of phenotypic features
-
Hamosh, A., N. Sobreira, J. Hoover-Fong, V. R. Sutton, C. Boehm et al., 2013 PhenoDB: a new web-based tool for the collection, storage, and analysis of phenotypic features. Hum. Mutat. 34: 566–571.
-
(2013)
Hum. Mutat
, vol.34
, pp. 566-571
-
-
Hamosh, A.1
Sobreira, N.2
Hoover-Fong, J.3
Sutton, V.R.4
Boehm, C.5
-
59
-
-
84946924969
-
Complementation of yeast genes with human genes as an experimental platform for functional testing of human genetic variants
-
Hamza, A., E. Tammpere, M. Kofoed, C. Keong, J. Chiang et al., 2015 Complementation of yeast genes with human genes as an experimental platform for functional testing of human genetic variants. Genetics 201: 1263–1274.
-
(2015)
Genetics
, vol.201
, pp. 1263-1274
-
-
Hamza, A.1
Tammpere, E.2
Kofoed, M.3
Keong, C.4
Chiang, J.5
-
60
-
-
84959909553
-
Monoallelic and biallelic variants in EMC1 identified in individuals with global developmental delay, hypotonia, scoliosis, and cerebellar atrophy
-
Harel, T., G. Yesil, Y. Bayram, Z. Coban-Akdemir, W. L. Charng et al., 2016a Monoallelic and biallelic variants in EMC1 identified in individuals with global developmental delay, hypotonia, scoliosis, and cerebellar atrophy. Am. J. Hum. Genet. 98: 562– 570.
-
(2016)
Am. J. Hum. Genet
, vol.98
, pp. 562-570
-
-
Harel, T.1
Yesil, G.2
Bayram, Y.3
Coban-Akdemir, Z.4
Charng, W.L.5
-
61
-
-
84991678519
-
Recurrent de novo and biallelic variation of ATAD3A, encoding a mitochondrial membrane protein, results in distinct neurological syndromes
-
Harel, T., W. H. Yoon, C. Garone, S. Gu, Z. Coban-Akdemir et al., 2016b Recurrent de novo and biallelic variation of ATAD3A, encoding a mitochondrial membrane protein, results in distinct neurological syndromes. Am. J. Hum. Genet. 99: 831–845.
-
(2016)
Am. J. Hum. Genet
, vol.99
, pp. 831-845
-
-
Harel, T.1
Yoon, W.H.2
Garone, C.3
Gu, S.4
Coban-Akdemir, Z.5
-
62
-
-
85009785522
-
Mutations in EBF3 disturb transcriptional profiles and cause intellectual disability, ataxia, and facial dysmorphism
-
Harms, F. L., K. M. Girisha, A. A. Hardigan, F. Kortum, A. Shukla et al., 2017 Mutations in EBF3 disturb transcriptional profiles and cause intellectual disability, ataxia, and facial dysmorphism. Am. J. Hum. Genet. 100: 117–127.
-
(2017)
Am. J. Hum. Genet
, vol.100
, pp. 117-127
-
-
Harms, F.L.1
Girisha, K.M.2
Hardigan, A.A.3
Kortum, F.4
Shukla, A.5
-
63
-
-
0014804012
-
Genetic control of the cell-division cycle in yeast. I. Detection of mutants
-
Hartwell, L. H., J. Culotti, and B. Reid, 1970 Genetic control of the cell-division cycle in yeast. I. Detection of mutants. Proc. Natl. Acad. Sci. USA 66: 352–359.
-
(1970)
Proc. Natl. Acad. Sci. USA
, vol.66
, pp. 352-359
-
-
Hartwell, L.H.1
Culotti, J.2
Reid, B.3
-
64
-
-
0015954720
-
Genetic control of the cell division cycle in yeast
-
Hartwell, L. H., J. Culotti, J. R. Pringle, and B. J. Reid, 1974 Genetic control of the cell division cycle in yeast. Science 183: 46–51.
-
(1974)
Science
, vol.183
, pp. 46-51
-
-
Hartwell, L.H.1
Culotti, J.2
Pringle, J.R.3
Reid, B.J.4
-
65
-
-
84908046839
-
Understanding rare disease pathogenesis: A grand challenge for model organisms
-
Hieter, P., and K. M. Boycott, 2014 Understanding rare disease pathogenesis: a grand challenge for model organisms. Genetics 198: 443–445.
-
(2014)
Genetics
, vol.198
, pp. 443-445
-
-
Hieter, P.1
Boycott, K.M.2
-
66
-
-
0028598861
-
Gene duplications and the origins of vertebrate development
-
Holland, P. W., J. Garcia-Fernandez, N. A. Williams, and A. Sidow, 1994 Gene duplications and the origins of vertebrate development. Dev. Suppl. 120: 125–133.
-
(1994)
Dev. Suppl
, vol.120
, pp. 125-133
-
-
Holland, P.W.1
Garcia-Fernandez, J.2
Williams, N.A.3
Sidow, A.4
-
67
-
-
85016152530
-
The zebrafish model organism database: New support for human disease models, mutation details, gene expression phenotypes and searching
-
Howe, D. G., Y. M. Bradford, A. Eagle, D. Fashena, K. Frazer et al., 2017 The zebrafish model organism database: new support for human disease models, mutation details, gene expression phenotypes and searching. Nucleic Acids Res. 45: D758–D768.
-
(2017)
Nucleic Acids Res
, vol.45
, pp. D758-D768
-
-
Howe, D.G.1
Bradford, Y.M.2
Eagle, A.3
Fashena, D.4
Frazer, K.5
-
68
-
-
84876798186
-
The zebrafish reference genome sequence and its relationship to the human genome
-
Howe, K., M. D. Clark, C. F. Torroja, J. Torrance, C. Berthelot et al., 2013 The zebrafish reference genome sequence and its relationship to the human genome. Nature 496: 498–503.
-
(2013)
Nature
, vol.496
, pp. 498-503
-
-
Howe, K.1
Clark, M.D.2
Torroja, C.F.3
Torrance, J.4
Berthelot, C.5
-
69
-
-
85042826954
-
-
IOM, 2010 Rare Diseases and Orphan Products: Accelerating Research and Development. National Academies Press, Washington, DC.
-
IOM, 2010 Rare Diseases and Orphan Products: Accelerating Research and Development. National Academies Press, Washington, DC.
-
-
-
-
70
-
-
84956744263
-
A visual and curatorial approach to clinical variant prioritization and disease gene discovery in genome-wide diagnostics
-
James, R. A., I. M. Campbell, E. S. Chen, P. M. Boone, M. A. Rao et al., 2016 A visual and curatorial approach to clinical variant prioritization and disease gene discovery in genome-wide diagnostics. Genome Med. 8: 13.
-
(2016)
Genome Med
, vol.8
, pp. 13
-
-
James, R.A.1
Campbell, I.M.2
Chen, E.S.3
Boone, P.M.4
Rao, M.A.5
-
71
-
-
0027233365
-
Atonal is a proneural gene that directs chordotonal organ formation in the Drosophila peripheral nervous system
-
Jarman, A. P., Y. Grau, L. Y. Jan, and Y. N. Jan, 1993 atonal is a proneural gene that directs chordotonal organ formation in the Drosophila peripheral nervous system. Cell 73: 1307–1321.
-
(1993)
Cell
, vol.73
, pp. 1307-1321
-
-
Jarman, A.P.1
Grau, Y.2
Jan, L.Y.3
Jan, Y.N.4
-
72
-
-
84930009075
-
Evolution. Systematic humanization of yeast genes reveals conserved functions and genetic modularity
-
Kachroo, A. H., J. M. Laurent, C. M. Yellman, A. G. Meyer, C. O. Wilke et al., 2015 Evolution. Systematic humanization of yeast genes reveals conserved functions and genetic modularity. Science 348: 921–925.
-
(2015)
Science
, vol.348
, pp. 921-925
-
-
Kachroo, A.H.1
Laurent, J.M.2
Yellman, C.M.3
Meyer, A.G.4
Wilke, C.O.5
-
73
-
-
0035798238
-
The molecular biology of memory storage: A dialogue between genes and synapses
-
Kandel, E. R., 2001 The molecular biology of memory storage: a dialogue between genes and synapses. Science 294: 1030–1038.
-
(2001)
Science
, vol.294
, pp. 1030-1038
-
-
Kandel, E.R.1
-
74
-
-
84899576549
-
Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system function
-
Karaca, E., S. Weitzer, D. Pehlivan, H. Shiraishi, T. Gogakos et al., 2014 Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system function. Cell 157: 636–650.
-
(2014)
Cell
, vol.157
, pp. 636-650
-
-
Karaca, E.1
Weitzer, S.2
Pehlivan, D.3
Shiraishi, H.4
Gogakos, T.5
-
75
-
-
84957851956
-
Bi-allelic truncating mutations in TANGO2 cause infancy-onset recurrent metabolic crises with encephalocardiomyopathy
-
Kremer, L. S., F. Distelmaier, B. Alhaddad, M. Hempel, A. Iuso et al., 2016 Bi-allelic truncating mutations in TANGO2 cause infancy-onset recurrent metabolic crises with encephalocardiomyopathy. Am. J. Hum. Genet. 98: 358–362.
-
(2016)
Am. J. Hum. Genet
, vol.98
, pp. 358-362
-
-
Kremer, L.S.1
Distelmaier, F.2
Alhaddad, B.3
Hempel, M.4
Iuso, A.5
-
76
-
-
84959904216
-
FOXE3 mutations predispose to thoracic aortic aneurysms and dissections
-
Kuang, S. Q., O. Medina-Martinez, D. C. Guo, L. Gong, E. S. Regalado et al., 2016 FOXE3 mutations predispose to thoracic aortic aneurysms and dissections. J. Clin. Invest. 126: 948–961.
-
(2016)
J. Clin. Invest
, vol.126
, pp. 948-961
-
-
Kuang, S.Q.1
Medina-Martinez, O.2
Guo, D.C.3
Gong, L.4
Regalado, E.S.5
-
77
-
-
84957847814
-
Recurrent muscle weakness with rhabdomyolysis, metabolic crises, and cardiac arrhythmia due to bi-allelic TANGO2 mutations
-
Lalani, S. R., P. Liu, J. A. Rosenfeld, L. B. Watkin, T. Chiang et al., 2016 Recurrent muscle weakness with rhabdomyolysis, metabolic crises, and cardiac arrhythmia due to bi-allelic TANGO2 mutations. Am. J. Hum. Genet. 98: 347–357.
-
(2016)
Am. J. Hum. Genet
, vol.98
, pp. 347-357
-
-
Lalani, S.R.1
Liu, P.2
Rosenfeld, J.A.3
Watkin, L.B.4
Chiang, T.5
-
78
-
-
75749139617
-
Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C
-
Landoure, G., A. A. Zdebik, T. L. Martinez, B. G. Burnett, H. C. Stanescu et al., 2010 Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C. Nat. Genet. 42: 170–174.
-
(2010)
Nat. Genet
, vol.42
, pp. 170-174
-
-
Landoure, G.1
Zdebik, A.A.2
Martinez, T.L.3
Burnett, B.G.4
Stanescu, H.C.5
-
79
-
-
84919699151
-
Biallelic truncating mutations in FMN2, encoding the ac-tin-regulatory protein Formin 2, cause nonsyndromic autosomal-recessive intellectual disability
-
Law, R., T. Dixon-Salazar, J. Jerber, N. Cai, A. A. Abbasi et al., 2014 Biallelic truncating mutations in FMN2, encoding the ac-tin-regulatory protein Formin 2, cause nonsyndromic autosomal-recessive intellectual disability. Am. J. Hum. Genet. 95: 721–728.
-
(2014)
Am. J. Hum. Genet
, vol.95
, pp. 721-728
-
-
Law, R.1
Dixon-Salazar, T.2
Jerber, J.3
Cai, N.4
Abbasi, A.A.5
-
80
-
-
84918840439
-
Clinical exome sequencing for genetic identification of rare Mendelian disorders
-
Lee, H., J. L. Deignan, N. Dorrani, S. P. Strom, S. Kantarci et al., 2014 Clinical exome sequencing for genetic identification of rare Mendelian disorders. JAMA 312: 1880–1887.
-
(2014)
JAMA
, vol.312
, pp. 1880-1887
-
-
Lee, H.1
Deignan, J.L.2
Dorrani, N.3
Strom, S.P.4
Kantarci, S.5
-
81
-
-
84874189972
-
Genotype to phenotype: Lessons from model organisms for human genetics
-
Lehner, B., 2013 Genotype to phenotype: lessons from model organisms for human genetics. Nat. Rev. Genet. 14: 168–178.
-
(2013)
Nat. Rev. Genet
, vol.14
, pp. 168-178
-
-
Lehner, B.1
-
82
-
-
84982253941
-
Analysis of protein-coding genetic variation in 60,706 humans
-
Lek, M., K. J. Karczewski, E. V. Minikel, K. E. Samocha, E. Banks et al., 2016 Analysis of protein-coding genetic variation in 60,706 humans. Nature 536: 285–291.
-
(2016)
Nature
, vol.536
, pp. 285-291
-
-
Lek, M.1
Karczewski, K.J.2
Minikel, E.V.3
Samocha, K.E.4
Banks, E.5
-
83
-
-
0030595339
-
The dorsoventral regulatory gene cassette spatzle/Toll/ cactus controls the potent antifungal response in Drosophila adults
-
Lemaitre, B., E. Nicolas, L. Michaut, J. M. Reichhart, and J. A. Hoffmann, 1996 The dorsoventral regulatory gene cassette spatzle/Toll/ cactus controls the potent antifungal response in Drosophila adults. Cell 86: 973–983.
-
(1996)
Cell
, vol.86
, pp. 973-983
-
-
Lemaitre, B.1
Nicolas, E.2
Michaut, L.3
Reichhart, J.M.4
Hoffmann, J.A.5
-
84
-
-
35648976118
-
The diploid genome sequence of an individual human
-
Levy, S., G. Sutton, P. C. Ng, L. Feuk, A. L. Halpern et al., 2007 The diploid genome sequence of an individual human. PLoS Biol. 5: e254.
-
(2007)
Plos Biol
, vol.5
-
-
Levy, S.1
Sutton, G.2
Ng, P.C.3
Feuk, L.4
Halpern, A.L.5
-
85
-
-
0018240421
-
A gene complex controlling segmentation in Drosophila
-
Lewis, E. B., 1978 A gene complex controlling segmentation in Drosophila. Nature 276: 565–570.
-
(1978)
Nature
, vol.276
, pp. 565-570
-
-
Lewis, E.B.1
-
86
-
-
77950393298
-
Single nucleotide polymorphism associated with nonsyndromic cleft palate influences the processing of miR-140
-
Li, L., T. Meng, Z. Jia, G. Zhu, and B. Shi, 2010 Single nucleotide polymorphism associated with nonsyndromic cleft palate influences the processing of miR-140. Am. J. Med. Genet. A. 152A: 856–862.
-
(2010)
Am. J. Med. Genet. A
, vol.152
, pp. 856-862
-
-
Li, L.1
Meng, T.2
Jia, Z.3
Zhu, G.4
Shi, B.5
-
87
-
-
38849166096
-
Modeling genomic diversity and tumor dependency in malignant melanoma
-
Lin, W. M., A. C. Baker, R. Beroukhim, W. Winckler, W. Feng et al., 2008 Modeling genomic diversity and tumor dependency in malignant melanoma. Cancer Res. 68: 664–673.
-
(2008)
Cancer Res
, vol.68
, pp. 664-673
-
-
Lin, W.M.1
Baker, A.C.2
Beroukhim, R.3
Winckler, W.4
Feng, W.5
-
88
-
-
77950475726
-
Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy
-
Lupski, J. R., J. G. Reid, C. Gonzaga-Jauregui, D. Rio Deiros, D. C. Chen et al., 2010 Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy. N. Engl. J. Med. 362: 1181– 1191.
-
(2010)
N. Engl. J. Med
, vol.362
, pp. 1181-1191
-
-
Lupski, J.R.1
Reid, J.G.2
Gonzaga-Jauregui, C.3
Rio Deiros, D.4
Chen, D.C.5
-
89
-
-
80053549439
-
Clan genomics and the complex architecture of human disease
-
Lupski, J. R., J. W. Belmont, E. Boerwinkle, and R. A. Gibbs, 2011 Clan genomics and the complex architecture of human disease. Cell 147: 32–43.
-
(2011)
Cell
, vol.147
, pp. 32-43
-
-
Lupski, J.R.1
Belmont, J.W.2
Boerwinkle, E.3
Gibbs, R.A.4
-
90
-
-
80055002815
-
Genome-wide association study identifies a new melanoma susceptibility locus at 1q21.3
-
Macgregor, S., G. W. Montgomery, J. Z. Liu, Z. Z. Zhao, A. K. Henders et al., 2011 Genome-wide association study identifies a new melanoma susceptibility locus at 1q21.3. Nat. Genet. 43: 1114–1118.
-
(2011)
Nat. Genet
, vol.43
, pp. 1114-1118
-
-
Macgregor, S.1
Montgomery, G.W.2
Liu, J.Z.3
Zhao, Z.Z.4
Henders, A.K.5
-
91
-
-
85016023655
-
Bedside back to bench: Building bridges between basic and clinical genomic research
-
Manolio, T. A., D. M. Fowler, L. M. Starita, M. A. Haendel, D. G. MacArthur et al., 2017 Bedside back to bench: building bridges between basic and clinical genomic research. Cell 169: 6–12.
-
(2017)
Cell
, vol.169
, pp. 6-12
-
-
Manolio, T.A.1
Fowler, D.M.2
Starita, L.M.3
Haendel, M.A.4
Macarthur, D.G.5
-
92
-
-
79955164527
-
Vascular pathology of medial arterial calcifications in NT5E deficiency: Implications for the role of adenosine in pseudoxanthoma elasticum
-
Markello, T. C., L. K. Pak, C. St Hilaire, H. Dorward, S. G. Ziegler et al., 2011 Vascular pathology of medial arterial calcifications in NT5E deficiency: implications for the role of adenosine in pseudoxanthoma elasticum. Mol. Genet. Metab. 103: 44–50.
-
(2011)
Mol. Genet. Metab
, vol.103
, pp. 44-50
-
-
Markello, T.C.1
Pak, L.K.2
St Hilaire, C.3
Dorward, H.4
Ziegler, S.G.5
-
93
-
-
84877777524
-
The neural crest
-
Mayor, R., and E. Theveneau, 2013 The neural crest. Development 140: 2247–2251.
-
(2013)
Development
, vol.140
, pp. 2247-2251
-
-
Mayor, R.1
Theveneau, E.2
-
94
-
-
50449091647
-
Deletion polymorphism upstream of IRGM associated with altered IRGM expression and Crohn’s disease
-
McCarroll, S. A., A. Huett, P. Kuballa, S. D. Chilewski, A. Landry et al., 2008 Deletion polymorphism upstream of IRGM associated with altered IRGM expression and Crohn’s disease. Nat. Genet. 40: 1107–1112.
-
(2008)
Nat. Genet
, vol.40
, pp. 1107-1112
-
-
McCarroll, S.A.1
Huett, A.2
Kuballa, P.3
Chilewski, S.D.4
Landry, A.5
-
95
-
-
77950900465
-
Systematic discovery of nonobvious human disease models through orthologous phenotypes
-
McGary, K. L., T. J. Park, J. O. Woods, H. J. Cha, J. B. Wallingford et al., 2011 Systematic discovery of nonobvious human disease models through orthologous phenotypes. Proc. Natl. Acad. Sci. USA 107: 6544–6549.
-
(2011)
Proc. Natl. Acad. Sci. USA
, vol.107
, pp. 6544-6549
-
-
McGary, K.L.1
Park, T.J.2
Woods, J.O.3
Cha, H.J.4
Wallingford, J.B.5
-
96
-
-
84943619853
-
Drosophila as an in vivo model for human neurodegenerative disease
-
McGurk, L., A. Berson, and N. M. Bonini, 2015 Drosophila as an in vivo model for human neurodegenerative disease. Genetics 201: 377–402.
-
(2015)
Genetics
, vol.201
, pp. 377-402
-
-
McGurk, L.1
Berson, A.2
Bonini, N.M.3
-
97
-
-
84926392444
-
Mutations in KATNB1 cause complex cerebral malformations by disrupting asymmetrically dividing neural progenitors
-
Mishra-Gorur, K., A. O. Caglayan, A. E. Schaffer, C. Chabu, O. Henegariu et al., 2014 Mutations in KATNB1 cause complex cerebral malformations by disrupting asymmetrically dividing neural progenitors. Neuron 84: 1226–1239.
-
(2014)
Neuron
, vol.84
, pp. 1226-1239
-
-
Mishra-Gorur, K.1
Caglayan, A.O.2
Schaffer, A.E.3
Chabu, C.4
Henegariu, O.5
-
98
-
-
0032563798
-
A protein conjugation system essential for autophagy
-
Mizushima, N., T. Noda, T. Yoshimori, Y. Tanaka, T. Ishii et al., 1998 A protein conjugation system essential for autophagy. Nature 395: 395–398.
-
(1998)
Nature
, vol.395
, pp. 395-398
-
-
Mizushima, N.1
Noda, T.2
Yoshimori, T.3
Tanaka, Y.4
Ishii, T.5
-
99
-
-
26444582875
-
Drosophila TRP channels
-
Montell, C., 2005 Drosophila TRP channels. Pflugers Arch. 451: 19–28.
-
(2005)
Pflugers Arch
, vol.451
, pp. 19-28
-
-
Montell, C.1
-
100
-
-
84924580695
-
A library of MiMICs allows tagging of genes and reversible, spatial and temporal knockdown of proteins in Drosophila
-
Nagarkar-Jaiswal, S., P. T. Lee, M. E. Campbell, K. Chen, S. Anguiano-Zarate et al., 2015 A library of MiMICs allows tagging of genes and reversible, spatial and temporal knockdown of proteins in Drosophila. Elife 4: e05338.
-
(2015)
Elife
, vol.4
-
-
Nagarkar-Jaiswal, S.1
Lee, P.T.2
Campbell, M.E.3
Chen, K.4
Anguiano-Zarate, S.5
-
101
-
-
84864083351
-
Clinical application of exome sequencing in undiagnosed genetic conditions
-
Need, A. C., V. Shashi, Y. Hitomi, K. Schoch, K. V. Shianna et al., 2012 Clinical application of exome sequencing in undiagnosed genetic conditions. J. Med. Genet. 49: 353–361.
-
(2012)
J. Med. Genet
, vol.49
, pp. 353-361
-
-
Need, A.C.1
Shashi, V.2
Hitomi, Y.3
Schoch, K.4
Shianna, K.V.5
-
102
-
-
75749129058
-
Channelopathies converge on TRPV4
-
Nilius, B., and G. Owsianik, 2010 Channelopathies converge on TRPV4. Nat. Genet. 42: 98–100.
-
(2010)
Nat. Genet
, vol.42
, pp. 98-100
-
-
Nilius, B.1
Owsianik, G.2
-
103
-
-
84864035686
-
TRPV4-associated skeletal dysplasias
-
Nishimura, G., E. Lausch, R. Savarirayan, M. Shiba, J. Spranger et al., 2012 TRPV4-associated skeletal dysplasias. Am. J. Med. Genet. C. Semin. Med. Genet. 160C: 190–204.
-
(2012)
Am. J. Med. Genet. C. Semin. Med. Genet
, vol.160
, pp. 190-204
-
-
Nishimura, G.1
Lausch, E.2
Savarirayan, R.3
Shiba, M.4
Spranger, J.5
-
104
-
-
0018930046
-
Identification of 23 complementation groups required for post-translational events in the yeast secretory pathway
-
Novick, P., C. Field, and R. Schekman, 1980 Identification of 23 complementation groups required for post-translational events in the yeast secretory pathway. Cell 21: 205–215.
-
(1980)
Cell
, vol.21
, pp. 205-215
-
-
Novick, P.1
Field, C.2
Schekman, R.3
-
105
-
-
0019394338
-
Gene required in G1 for commitment to cell cycle and in G2 for control of mitosis in fission yeast
-
Nurse, P., and Y. Bissett, 1981 Gene required in G1 for commitment to cell cycle and in G2 for control of mitosis in fission yeast. Nature 292: 558–560.
-
(1981)
Nature
, vol.292
, pp. 558-560
-
-
Nurse, P.1
Bissett, Y.2
-
106
-
-
0019133661
-
Mutations affecting segment number and polarity in Drosophila
-
Nusslein-Volhard, C., and E. Wieschaus, 1980 Mutations affecting segment number and polarity in Drosophila. Nature 287: 795–801.
-
(1980)
Nature
, vol.287
, pp. 795-801
-
-
Nusslein-Volhard, C.1
Wieschaus, E.2
-
107
-
-
73949122296
-
WNT5A mutations in patients with autosomal dominant Robinow syndrome
-
Person, A. D., S. Beiraghi, C. M. Sieben, S. Hermanson, A. N. Neumann et al., 2010 WNT5A mutations in patients with autosomal dominant Robinow syndrome. Dev. Dyn. 239: 327–337.
-
(2010)
Dev. Dyn
, vol.239
, pp. 327-337
-
-
Person, A.D.1
Beiraghi, S.2
Sieben, C.M.3
Hermanson, S.4
Neumann, A.N.5
-
108
-
-
84941873668
-
The matchmaker exchange: A platform for rare disease gene discovery
-
Philippakis, A. A., D. R. Azzariti, S. Beltran, A. J. Brookes, C. A. Brownstein et al., 2015 The matchmaker exchange: a platform for rare disease gene discovery. Hum. Mutat. 36: 915–921.
-
(2015)
Hum. Mutat
, vol.36
, pp. 915-921
-
-
Philippakis, A.A.1
Azzariti, D.R.2
Beltran, S.3
Brookes, A.J.4
Brownstein, C.A.5
-
109
-
-
84903993789
-
Zebrafish models in translational research: Tipping the scales toward advancements in human health
-
Phillips, J. B., and M. Westerfield, 2014 Zebrafish models in translational research: tipping the scales toward advancements in human health. Dis. Model. Mech. 7: 739–743.
-
(2014)
Dis. Model. Mech
, vol.7
, pp. 739-743
-
-
Phillips, J.B.1
Westerfield, M.2
-
110
-
-
80055087830
-
Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases
-
Pierson, T. M., D. Adams, F. Bonn, P. Martinelli, P. F. Cherukuri et al., 2011 Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases. PLoS Genet. 7: e1002325.
-
(2011)
Plos Genet
, vol.7
-
-
Pierson, T.M.1
Adams, D.2
Bonn, F.3
Martinelli, P.4
Cherukuri, P.F.5
-
111
-
-
0037228055
-
High frequency of BRAF mutations in nevi
-
Pollock, P. M., U. L. Harper, K. S. Hansen, L. M. Yudt, M. Stark et al., 2003 High frequency of BRAF mutations in nevi. Nat. Genet. 33: 19–20.
-
(2003)
Nat. Genet
, vol.33
, pp. 19-20
-
-
Pollock, P.M.1
Harper, U.L.2
Hansen, K.S.3
Yudt, L.M.4
Stark, M.5
-
112
-
-
84977147369
-
Molecular diagnostic experience of whole-exome sequencing in adult patients
-
Posey, J. E., J. A. Rosenfeld, R. A. James, M. Bainbridge, Z. Niu et al., 2016 Molecular diagnostic experience of whole-exome sequencing in adult patients. Genet. Med. 18: 678–685.
-
(2016)
Genet. Med
, vol.18
, pp. 678-685
-
-
Posey, J.E.1
Rosenfeld, J.A.2
James, R.A.3
Bainbridge, M.4
Niu, Z.5
-
113
-
-
85011827067
-
The undiagnosed diseases network: Accelerating discovery about health and disease
-
Ramoni, R. B., J. J. Mulvihill, D. R. Adams, P. Allard, E. A. Ashley et al., 2017 The undiagnosed diseases network: accelerating discovery about health and disease. Am. J. Hum. Genet. 100: 185–192.
-
(2017)
Am. J. Hum. Genet
, vol.100
, pp. 185-192
-
-
Ramoni, R.B.1
Mulvihill, J.J.2
Adams, D.R.3
Allard, P.4
Ashley, E.A.5
-
114
-
-
84977142736
-
Clinical application of whole-exome sequencing across clinical indications
-
Retterer, K., J. Juusola, M. T. Cho, P. Vitazka, F. Millan et al., 2016 Clinical application of whole-exome sequencing across clinical indications. Genet. Med. 18: 696–704.
-
(2016)
Genet. Med
, vol.18
, pp. 696-704
-
-
Retterer, K.1
Juusola, J.2
Cho, M.T.3
Vitazka, P.4
Millan, F.5
-
115
-
-
85021381312
-
Non-model model organisms
-
Russell, J. J., J. A. Theriot, P. Sood, W. F. Marshall, L. F. Landweber et al., 2017 Non-model model organisms. BMC Biol. 15: 55.
-
(2017)
BMC Biol
, vol.15
, pp. 55
-
-
Russell, J.J.1
Theriot, J.A.2
Sood, P.3
Marshall, W.F.4
Landweber, L.F.5
-
116
-
-
84961266534
-
A genome-wide resource for the analysis of protein localisation in Drosophila
-
Sarov, M., C. Barz, H. Jambor, M. Y. Hein, C. Schmied et al., 2016 A genome-wide resource for the analysis of protein localisation in Drosophila. Elife 5: e12068.
-
(2016)
Elife
, vol.5
-
-
Sarov, M.1
Barz, C.2
Jambor, H.3
Hein, M.Y.4
Schmied, C.5
-
118
-
-
84958105945
-
Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: Time to address gaps in care
-
Sawyer, S. L., T. Hartley, D. A. Dyment, C. L. Beaulieu, J. Schwartzentruber et al., 2016 Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care. Clin. Genet. 89: 275–284.
-
(2016)
Clin. Genet
, vol.89
, pp. 275-284
-
-
Sawyer, S.L.1
Hartley, T.2
Dyment, D.A.3
Beaulieu, C.L.4
Schwartzentruber, J.5
-
119
-
-
84933676902
-
Retrospective analysis supports algorithm as efficient diagnostic approach to treatable intellectual developmental disabilities
-
Sayson, B., M. A. Popurs, M. Lafek, R. Berkow, S. Stockler-Ipsiroglu et al., 2015 Retrospective analysis supports algorithm as efficient diagnostic approach to treatable intellectual developmental disabilities. Mol. Genet. Metab. 115: 1–9.
-
(2015)
Mol. Genet. Metab
, vol.115
, pp. 1-9
-
-
Sayson, B.1
Popurs, M.A.2
Lafek, M.3
Berkow, R.4
Stockler-Ipsiroglu, S.5
-
120
-
-
84899581919
-
CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegeneration
-
Schaffer, A. E., V. R. Eggens, A. O. Caglayan, M. S. Reuter, E. Scott et al., 2014 CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegeneration. Cell 157: 651–663.
-
(2014)
Cell
, vol.157
, pp. 651-663
-
-
Schaffer, A.E.1
Eggens, V.R.2
Caglayan, A.O.3
Reuter, M.S.4
Scott, E.5
-
121
-
-
85010878208
-
A recurrent de novo variant in NACC1 causes a syndrome characterized by infantile epilepsy, cataracts, and profound developmental delay
-
Schoch, K., L. Meng, S. Szelinger, D. R. Bearden, A. Stray-Pedersen et al., 2017 A recurrent de novo variant in NACC1 causes a syndrome characterized by infantile epilepsy, cataracts, and profound developmental delay. Am. J. Hum. Genet. 100: 343–351.
-
(2017)
Am. J. Hum. Genet
, vol.100
, pp. 343-351
-
-
Schoch, K.1
Meng, L.2
Szelinger, S.3
Bearden, D.R.4
Stray-Pedersen, A.5
-
122
-
-
84930181142
-
Rapid reverse genetic screening using CRISPR in zebrafish
-
Shah, A. N., C. F. Davey, A. C. Whitebirch, A. C. Miller, and C. B. Moens, 2015 Rapid reverse genetic screening using CRISPR in zebrafish. Nat. Methods 12: 535–540.
-
(2015)
Nat. Methods
, vol.12
, pp. 535-540
-
-
Shah, A.N.1
Davey, C.F.2
Whitebirch, A.C.3
Miller, A.C.4
Moens, C.B.5
-
123
-
-
84991615265
-
De novo truncating variants in ASXL2 are associated with a unique and recognizable clinical phenotype
-
Shashi, V., L. D. Pena, K. Kim, B. Burton, M. Hempel et al., 2016 De novo truncating variants in ASXL2 are associated with a unique and recognizable clinical phenotype. Am. J. Hum. Genet. 99: 991–999.
-
(2016)
Am. J. Hum. Genet
, vol.99
, pp. 991-999
-
-
Shashi, V.1
Pena, L.D.2
Kim, K.3
Burton, B.4
Hempel, M.5
-
124
-
-
66649130741
-
Scribble participates in Hippo signaling and is required for normal zebrafish pronephros development
-
Skouloudaki, K., M. Puetz, M. Simons, J. R. Courbard, C. Boehlke et al., 2009 Scribble participates in Hippo signaling and is required for normal zebrafish pronephros development. Proc. Natl. Acad. Sci. USA 106: 8579–8584.
-
(2009)
Proc. Natl. Acad. Sci. USA
, vol.106
, pp. 8579-8584
-
-
Skouloudaki, K.1
Puetz, M.2
Simons, M.3
Courbard, J.R.4
Boehlke, C.5
-
125
-
-
85009737785
-
De novo mutations in EBF3 cause a neurodevelopmental syndrome
-
Sleven, H., S. J. Welsh, J. Yu, M. E. Churchill, C. F. Wright et al., 2017 De novo mutations in EBF3 cause a neurodevelopmental syndrome. Am. J. Hum. Genet. 100: 138–150.
-
(2017)
Am. J. Hum. Genet
, vol.100
, pp. 138-150
-
-
Sleven, H.1
Welsh, S.J.2
Yu, J.3
Churchill, M.E.4
Wright, C.F.5
-
126
-
-
84905868030
-
Exome sequencing identifies a recurrent de novo ZSWIM6 mutation associated with acromelic frontonasal dysos-tosis
-
Smith, J. D., A. V. Hing, C. M. Clarke, N. M. Johnson, F. A. Perez et al., 2014 Exome sequencing identifies a recurrent de novo ZSWIM6 mutation associated with acromelic frontonasal dysos-tosis. Am. J. Hum. Genet. 95: 235–240.
-
(2014)
Am. J. Hum. Genet
, vol.95
, pp. 235-240
-
-
Smith, J.D.1
Hing, A.V.2
Clarke, C.M.3
Johnson, N.M.4
Perez, F.A.5
-
127
-
-
84925851486
-
New tools for Mendelian disease gene identification: PhenoDB variant analysis module; and GeneMatcher, a web-based tool for linking investigators with an interest in the same gene
-
Sobreira, N., F. Schiettecatte, C. Boehm, D. Valle, and A. Hamosh, 2015a New tools for Mendelian disease gene identification: PhenoDB variant analysis module; and GeneMatcher, a web-based tool for linking investigators with an interest in the same gene. Hum. Mutat. 36: 425–431.
-
(2015)
Hum. Mutat
, vol.36
, pp. 425-431
-
-
Sobreira, N.1
Schiettecatte, F.2
Boehm, C.3
Valle, D.4
Hamosh, A.5
-
128
-
-
84941877741
-
GeneMatcher: A matching tool for connecting investigators with an interest in the same gene
-
Sobreira, N., F. Schiettecatte, D. Valle, and A. Hamosh, 2015b GeneMatcher: a matching tool for connecting investigators with an interest in the same gene. Hum. Mutat. 36: 928–930.
-
(2015)
Hum. Mutat
, vol.36
, pp. 928-930
-
-
Sobreira, N.1
Schiettecatte, F.2
Valle, D.3
Hamosh, A.4
-
129
-
-
79551565257
-
NT5E mutations and arterial calcifications
-
St Hilaire, C., S. G. Ziegler, T. C. Markello, A. Brusco, C. Groden et al., 2011 NT5E mutations and arterial calcifications. N. Engl. J. Med. 364: 432–442.
-
(2011)
N. Engl. J. Med
, vol.364
, pp. 432-442
-
-
St Hilaire, C.1
Ziegler, S.G.2
Markello, T.C.3
Brusco, A.4
Groden, C.5
-
130
-
-
84994107989
-
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders
-
Stark, Z., T. Y. Tan, B. Chong, G. R. Brett, P. Yap et al., 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. Genet. Med. 18: 1090–1096.
-
(2016)
Genet. Med
, vol.18
, pp. 1090-1096
-
-
Stark, Z.1
Tan, T.Y.2
Chong, B.3
Brett, G.R.4
Yap, P.5
-
131
-
-
0026668042
-
Autophagy in yeast demonstrated with proteinase-deficient mutants and conditions for its induction
-
Takeshige, K., M. Baba, S. Tsuboi, T. Noda, and Y. Ohsumi, 1992 Autophagy in yeast demonstrated with proteinase-deficient mutants and conditions for its induction. J. Cell Biol. 119: 301–311.
-
(1992)
J. Cell Biol
, vol.119
, pp. 301-311
-
-
Takeshige, K.1
Baba, M.2
Tsuboi, S.3
Noda, T.4
Ohsumi, Y.5
-
132
-
-
84962953721
-
Exome sequencing and the management of neurometabolic disorders
-
Tarailo-Graovac, M., C. Shyr, C. J. Ross, G. A. Horvath, R. Salvar-inova et al., 2016 Exome sequencing and the management of neurometabolic disorders. N. Engl. J. Med. 374: 2246–2255.
-
(2016)
N. Engl. J. Med
, vol.374
, pp. 2246-2255
-
-
Tarailo-Graovac, M.1
Shyr, C.2
Ross, C.J.3
Horvath, G.A.4
Salvar-Inova, R.5
-
133
-
-
73249119724
-
The completion of the Mammalian Gene Collection (MGC
-
Temple, G., D. S. Gerhard, R. Rasooly, E. A. Feingold, P. J. Good et al., 2009 The completion of the Mammalian Gene Collection (MGC). Genome Res. 19: 2324–2333.
-
(2009)
Genome Res
, vol.19
, pp. 2324-2333
-
-
Temple, G.1
Gerhard, D.S.2
Rasooly, R.3
Feingold, E.A.4
Good, P.J.5
-
134
-
-
84927693105
-
The National Institutes of Health undiagnosed diseases program
-
Tifft, C. J., and D. R. Adams, 2014 The National Institutes of Health undiagnosed diseases program. Curr. Opin. Pediatr. 26: 626–633.
-
(2014)
Curr. Opin. Pediatr
, vol.26
, pp. 626-633
-
-
Tifft, C.J.1
Adams, D.R.2
-
135
-
-
84966600215
-
The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery
-
Toriyama, M., C. Lee, S. P. Taylor, I. Duran, D. H. Cohn et al., 2016 The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery. Nat. Genet. 48: 648–656.
-
(2016)
Nat. Genet
, vol.48
, pp. 648-656
-
-
Toriyama, M.1
Lee, C.2
Taylor, S.P.3
Duran, I.4
Cohn, D.H.5
-
136
-
-
0027424777
-
Isolation and characterization of autophagy-defective mutants of Saccharomyces cerevisiae
-
Tsukada, M., and Y. Ohsumi, 1993 Isolation and characterization of autophagy-defective mutants of Saccharomyces cerevisiae. FEBS Lett. 333: 169–174.
-
(1993)
FEBS Lett
, vol.333
, pp. 169-174
-
-
Tsukada, M.1
Ohsumi, Y.2
-
137
-
-
0034426036
-
Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome
-
van Bokhoven, H., J. Celli, H. Kayserili, E. van Beusekom, S. Balci et al., 2000 Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome. Nat. Genet. 25: 423–426.
-
(2000)
Nat. Genet
, vol.25
, pp. 423-426
-
-
Van Bokhoven, H.1
Celli, J.2
Kayserili, H.3
Van Beusekom, E.4
Balci, S.5
-
138
-
-
84969834515
-
NANS-mediated synthesis of sialic acid is required for brain and skeletal development
-
van Karnebeek, C. D., L. Bonafe, X. Y. Wen, M. Tarailo-Graovac, S. Balzano et al., 2016 NANS-mediated synthesis of sialic acid is required for brain and skeletal development. Nat. Genet. 48: 777–784.
-
(2016)
Nat. Genet
, vol.48
, pp. 777-784
-
-
Van Karnebeek, C.D.1
Bonafe, L.2
Wen, X.Y.3
Tarailo-Graovac, M.4
Balzano, S.5
-
139
-
-
80052287311
-
MiMIC: A highly versatile transposon insertion resource for engineering Drosophila melanogaster genes
-
Venken, K. J., K. L. Schulze, N. A. Haelterman, H. Pan, Y. He et al., 2011 MiMIC: a highly versatile transposon insertion resource for engineering Drosophila melanogaster genes. Nat. Methods 8: 737–743.
-
(2011)
Nat. Methods
, vol.8
, pp. 737-743
-
-
Venken, K.J.1
Schulze, K.L.2
Haelterman, N.A.3
Pan, H.4
He, Y.5
-
140
-
-
85019064193
-
MARRVEL: Integration of human and model organism genetic resources to facilitate functional annotation of the human genome
-
Wang, J., R. Al-Ouran, Y. Hu, S. Y. Kim, Y. W. Wan et al., 2017 MARRVEL: integration of human and model organism genetic resources to facilitate functional annotation of the human genome. Am. J. Hum. Genet. 100: 843–853.
-
(2017)
Am. J. Hum. Genet
, vol.100
, pp. 843-853
-
-
Wang, J.1
Al-Ouran, R.2
Hu, Y.3
Kim, S.Y.4
Wan, Y.W.5
-
141
-
-
0037125941
-
Drosophila atonal fully rescues the phenotype of Math1 null mice: new functions evolve in new cellular contexts
-
Wang, V. Y., B. A. Hassan, H. J. Bellen, and H. Y. Zoghbi, 2002 Drosophila atonal fully rescues the phenotype of Math1 null mice: new functions evolve in new cellular contexts. Curr. Biol. 12: 1611–1616.
-
(2002)
Curr. Biol
, vol.12
, pp. 1611-1616
-
-
Wang, V.Y.1
Hassan, B.A.2
Bellen, H.J.3
Zoghbi, H.Y.4
-
142
-
-
84924985583
-
Fruit flies in biomedical research
-
Wangler, M. F., S. Yamamoto, and H. J. Bellen, 2015 Fruit flies in biomedical research. Genetics 199: 639–653.
-
(2015)
Genetics
, vol.199
, pp. 639-653
-
-
Wangler, M.F.1
Yamamoto, S.2
Bellen, H.J.3
-
143
-
-
85012230343
-
Drosophila and genome-wide association studies: A review and resource for the functional dissection of human complex traits
-
Wangler, M. F., Y. Hu, and J. M. Shulman, 2017 Drosophila and genome-wide association studies: a review and resource for the functional dissection of human complex traits. Dis. Model. Mech. 10: 77–88.
-
(2017)
Dis. Model. Mech
, vol.10
, pp. 77-88
-
-
Wangler, M.F.1
Hu, Y.2
Shulman, J.M.3
-
144
-
-
85011796891
-
Systematic reanalysis of clinical exome data yields additional diagnoses: Implications for providers
-
Wenger, A. M., H. Guturu, J. A. Bernstein, and G. Bejerano, 2017 Systematic reanalysis of clinical exome data yields additional diagnoses: implications for providers. Genet. Med. 19: 209–214.
-
(2017)
Genet. Med
, vol.19
, pp. 209-214
-
-
Wenger, A.M.1
Guturu, H.2
Bernstein, J.A.3
Bejerano, G.4
-
145
-
-
42249087308
-
The complete genome of an individual by massively parallel DNA sequencing
-
Wheeler, D. A., M. Srinivasan, M. Egholm, Y. Shen, L. Chen et al., 2008 The complete genome of an individual by massively parallel DNA sequencing. Nature 452: 872–876.
-
(2008)
Nature
, vol.452
, pp. 872-876
-
-
Wheeler, D.A.1
Srinivasan, M.2
Egholm, M.3
Shen, Y.4
Chen, L.5
-
146
-
-
84926250106
-
DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome
-
White, J., J. F. Mazzeu, A. Hoischen, S. N. Jhangiani, T. Gambin et al., 2015 DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome. Am. J. Hum. Genet. 96: 612–622.
-
(2015)
Am. J. Hum. Genet
, vol.96
, pp. 612-622
-
-
White, J.1
Mazzeu, J.F.2
Hoischen, A.3
Jhangiani, S.N.4
Gambin, T.5
-
147
-
-
84960075536
-
DVL3 alleles resulting in a -1 frameshift of the last exon mediate autosomal-dominant Robinow syndrome
-
White, J. J., J. F. Mazzeu, A. Hoischen, Y. Bayram, M. Withers et al., 2016 DVL3 alleles resulting in a -1 frameshift of the last exon mediate autosomal-dominant Robinow syndrome. Am. J. Hum. Genet. 98: 553–561.
-
(2016)
Am. J. Hum. Genet
, vol.98
, pp. 553-561
-
-
White, J.J.1
Mazzeu, J.F.2
Hoischen, A.3
Bayram, Y.4
Withers, M.5
-
148
-
-
79953064886
-
DHODH modulates transcriptional elongation in the neural crest and melanoma
-
White, R. M., J. Cech, S. Ratanasirintrawoot, C. Y. Lin, P. B. Rahl et al., 2011 DHODH modulates transcriptional elongation in the neural crest and melanoma. Nature 471: 518–522.
-
(2011)
Nature
, vol.471
, pp. 518-522
-
-
White, R.M.1
Cech, J.2
Ratanasirintrawoot, S.3
Lin, C.Y.4
Rahl, P.B.5
-
149
-
-
84925224470
-
TBX6 null variants and a common hypomorphic allele in congenital scoliosis
-
Wu, N., X. Ming, J. Xiao, Z. Wu, X. Chen et al., 2015 TBX6 null variants and a common hypomorphic allele in congenital scoliosis. N. Engl. J. Med. 372: 341–350.
-
(2015)
N. Engl. J. Med
, vol.372
, pp. 341-350
-
-
Wu, N.1
Ming, X.2
Xiao, J.3
Wu, Z.4
Chen, X.5
-
150
-
-
84907561150
-
A Drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases
-
Yamamoto, S., M. Jaiswal, W. L. Charng, T. Gambin, E. Karaca et al., 2014 A Drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases. Cell 159: 200–214.
-
(2014)
Cell
, vol.159
, pp. 200-214
-
-
Yamamoto, S.1
Jaiswal, M.2
Charng, W.L.3
Gambin, T.4
Karaca, E.5
-
151
-
-
84885785987
-
Clinical whole-exome sequencing for the diagnosis of Mendelian disorders
-
Yang, Y., D. M. Muzny, J. G. Reid, M. N. Bainbridge, A. Willis et al., 2013 Clinical whole-exome sequencing for the diagnosis of Mendelian disorders. N. Engl. J. Med. 369: 1502–1511.
-
(2013)
N. Engl. J. Med
, vol.369
, pp. 1502-1511
-
-
Yang, Y.1
Muzny, D.M.2
Reid, J.G.3
Bainbridge, M.N.4
Willis, A.5
-
152
-
-
84918771753
-
Molecular findings among patients referred for clinical whole-exome sequencing
-
Yang, Y., D. M. Muzny, F. Xia, Z. Niu, R. Person et al., 2014 Molecular findings among patients referred for clinical whole-exome sequencing. JAMA 312: 1870–1879.
-
(2014)
JAMA
, vol.312
, pp. 1870-1879
-
-
Yang, Y.1
Muzny, D.M.2
Xia, F.3
Niu, Z.4
Person, R.5
-
153
-
-
85009067781
-
Loss of Nardilysin, a mitochondrial co-chaperone for alpha-ketoglutarate dehydrogenase, promotes mTORC1 activation and neurodegeneration
-
Yoon, W. H., H. Sandoval, S. Nagarkar-Jaiswal, M. Jaiswal, S. Yamamoto et al., 2017 Loss of Nardilysin, a mitochondrial co-chaperone for alpha-ketoglutarate dehydrogenase, promotes mTORC1 activation and neurodegeneration. Neuron 93: 115– 131.
-
(2017)
Neuron
, vol.93
, pp. 115-131
-
-
Yoon, W.H.1
Sandoval, H.2
Nagarkar-Jaiswal, S.3
Jaiswal, M.4
Yamamoto, S.5
-
154
-
-
84943752520
-
Non-coding genetic variants in human disease
-
Zhang, F., and J. R. Lupski, 2015 Non-coding genetic variants in human disease. Hum. Mol. Genet. 24: R102–R110.
-
(2015)
Hum. Mol. Genet
, vol.24
, pp. R102-R110
-
-
Zhang, F.1
Lupski, J.R.2
-
155
-
-
77953232121
-
Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: Rare CNVs as a cause for missing heritability
-
Zhang, F., P. Seeman, P. Liu, M. A. Weterman, C. Gonzaga-Jauregui et al., 2010 Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability. Am. J. Hum. Genet. 86: 892–903.
-
(2010)
Am. J. Hum. Genet
, vol.86
, pp. 892-903
-
-
Zhang, F.1
Seeman, P.2
Liu, P.3
Weterman, M.A.4
Gonzaga-Jauregui, C.5
|