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1.
Negligible impact of rare autoimmune-locus coding-region variants on missing heritability.
Nature;
498(7453): 232-5, 2013 Jun 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-23698362
2.
Corrigendum: High-throughput discovery of novel developmental phenotypes.
Nature;
551(7680): 398, 2017 11 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-29144450
3.
Resolving the full spectrum of human genome variation using Linked-Reads.
Genome Res;
29(4): 635-645, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30894395
4.
Analysis of protein-coding genetic variation in 60,706 humans.
Nature;
536(7616): 285-91, 2016 08 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-27535533
5.
High-throughput discovery of novel developmental phenotypes.
Nature;
537(7621): 508-514, 2016 09 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-27626380
6.
Correction: Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population.
PLoS Genet;
15(5): e1008190, 2019 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-31145742
7.
The Effect of ACTN3 Gene Doping on Skeletal Muscle Performance.
Am J Hum Genet;
102(5): 845-857, 2018 05 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29706347
8.
Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy.
Am J Hum Genet;
102(5): 858-873, 2018 05 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29727687
9.
The Genetic Landscape of Diamond-Blackfan Anemia.
Am J Hum Genet;
2018 Nov 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-30503522
10.
Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population.
PLoS Genet;
14(5): e1007329, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29795570
11.
P4HA1 mutations cause a unique congenital disorder of connective tissue involving tendon, bone, muscle and the eye.
Hum Mol Genet;
26(12): 2207-2217, 2017 06 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28419360
12.
COL4A1 mutations as a potential novel cause of autosomal dominant CAKUT in humans.
Hum Genet;
138(10): 1105-1115, 2019 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-31230195
13.
Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization.
Am J Hum Genet;
99(5): 1086-1105, 2016 Nov 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-27745833
14.
Estimating prevalence for limb-girdle muscular dystrophy based on public sequencing databases.
Genet Med;
21(11): 2512-2520, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31105274
15.
BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells.
Brain;
2018 Jul 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29985992
16.
Transcriptome and genome sequencing uncovers functional variation in humans.
Nature;
501(7468): 506-11, 2013 Sep 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-24037378
17.
The ExAC browser: displaying reference data information from over 60 000 exomes.
Nucleic Acids Res;
45(D1): D840-D845, 2017 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-27899611
18.
GAPVD1 and ANKFY1 Mutations Implicate RAB5 Regulation in Nephrotic Syndrome.
J Am Soc Nephrol;
29(8): 2123-2138, 2018 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-29959197
19.
Impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and Sudan.
Physiol Genomics;
50(11): 929-939, 2018 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30345904
20.
Analysis of the ACTN3 heterozygous genotype suggests that α-actinin-3 controls sarcomeric composition and muscle function in a dose-dependent fashion.
Hum Mol Genet;
25(5): 866-77, 2016 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26681802