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1.
An Organismal CNV Mutator Phenotype Restricted to Early Human Development.
Cell;
168(5): 830-842.e7, 2017 02 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-28235197
2.
Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system function.
Cell;
157(3): 636-50, 2014 Apr 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-24766809
3.
Integrating common and rare genetic variation in diverse human populations.
Nature;
467(7311): 52-8, 2010 Sep 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-20811451
4.
Profiling and Leveraging Relatedness in a Precision Medicine Cohort of 92,455 Exomes.
Am J Hum Genet;
102(5): 874-889, 2018 05 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29727688
5.
Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay.
Am J Hum Genet;
103(5): 794-807, 2018 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30401460
6.
Homozygosity for a mutation affecting the catalytic domain of tyrosyl-tRNA synthetase (YARS) causes multisystem disease.
Hum Mol Genet;
2018 Oct 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30304524
7.
Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 Deletions.
Am J Hum Genet;
101(6): 985-994, 2017 Dec 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29198724
8.
De novo variants in PAK1 lead to intellectual disability with macrocephaly and seizures.
Brain;
142(11): 3351-3359, 2019 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31504246
9.
Homozygosity for CHEK2 p.Gly167Arg leads to a unique cancer syndrome with multiple complex chromosomal translocations in peripheral blood karyotype.
J Med Genet;
2019 Mar 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30858171
10.
Paediatric systemic lupus erythematosus as a manifestation of constitutional mismatch repair deficiency.
J Med Genet;
2019 Sep 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31501241
11.
Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome.
Hum Mutat;
2019 Aug 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-31448840
12.
A Unique Presentation of Infantile-Onset Colitis and Eosinophilic Disease without Recurrent Infections Resulting from a Novel Homozygous CARMIL2 Variant.
J Clin Immunol;
39(4): 430-439, 2019 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-31079270
13.
A novel TUFM homozygous variant in a child with mitochondrial cardiomyopathy expands the phenotype of combined oxidative phosphorylation deficiency 4.
J Hum Genet;
64(6): 589-595, 2019 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-30903008
14.
A novel heterozygous loss-of-function DCC Netrin 1 receptor variant in prenatal agenesis of corpus callosum and review of the literature.
Am J Med Genet A;
2019 Nov 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31697046
15.
Establishing the role of PLVAP in protein-losing enteropathy: a homozygous missense variant leads to an attenuated phenotype.
J Med Genet;
55(11): 779-784, 2018 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-29875123
16.
Genomic diagnostics within a medically underserved population: efficacy and implications.
Genet Med;
20(1): 31-41, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28726809
17.
Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations.
Am J Hum Genet;
94(6): 915-23, 2014 Jun 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-24906020
18.
NR2F1 mutations cause optic atrophy with intellectual disability.
Am J Hum Genet;
94(2): 303-9, 2014 Feb 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-24462372
19.
Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome.
PLoS Genet;
10(3): e1004258, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24676022
20.
The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy.
Genet Med;
18(5): 443-51, 2016 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-26378787