Detalhe da pesquisa
1.
The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
Cell
; 167(5): 1415-1429.e19, 2016 11 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-27863252
2.
Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders.
Am J Hum Genet
; 110(8): 1343-1355, 2023 08 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37541188
3.
Whole-genome sequencing of patients with rare diseases in a national health system.
Nature
; 583(7814): 96-102, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32581362
4.
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.
Blood
; 134(23): 2082-2091, 2019 12 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31064749
5.
Large-Scale Whole-Genome Sequencing Reveals the Genetic Architecture of Primary Membranoproliferative GN and C3 Glomerulopathy.
J Am Soc Nephrol
; 31(2): 365-373, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31919107
6.
Expanded repertoire of RASGRP2 variants responsible for platelet dysfunction and severe bleeding.
Blood
; 130(8): 1026-1030, 2017 08 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-28637664
7.
Craniometric Analysis of Skullbase With Magnetic Resonance Imaging in Patients With Chiari Malformation.
J Craniofac Surg
; 30(3): 818-822, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31048611
8.
Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans.
J Allergy Clin Immunol
; 142(4): 1285-1296, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29477724
9.
A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss.
Blood
; 127(23): 2903-14, 2016 06 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-26912466
10.
Whole-exome sequencing in an extended family with myocardial infarction unmasks familial hypercholesterolemia.
BMC Cardiovasc Disord
; 14: 108, 2014 Aug 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-25154303
11.
Reducing the algorithmic variability in transcriptome-based inference.
Bioinformatics
; 26(9): 1185-91, 2010 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-20212019
12.
Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans.
Nat Commun
; 11(1): 1740, 2020 04 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32269217
13.
Author Correction: Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans.
Nat Commun
; 11(1): 3741, 2020 07 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-32699324
14.
Development and validation of a universal blood donor genotyping platform: a multinational prospective study.
Blood Adv
; 4(15): 3495-3506, 2020 08 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32750130
15.
Loss of the interleukin-6 receptor causes immunodeficiency, atopy, and abnormal inflammatory responses.
J Exp Med
; 216(9): 1986-1998, 2019 09 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31235509
16.
Germline selection shapes human mitochondrial DNA diversity.
Science
; 364(6442)2019 05 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-31123110
17.
Platelet function is modified by common sequence variation in megakaryocyte super enhancers.
Nat Commun
; 8: 16058, 2017 07 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-28703137
18.
The Dnmt3L ADD Domain Controls Cytosine Methylation Establishment during Spermatogenesis.
Cell Rep
; 10(6): 944-956, 2015 Feb 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-25683717
19.
The Dnmt3L ADD Domain Controls Cytosine Methylation Establishment during Spermatogenesis.
Cell Rep
; 11(6): 990, 2015 05 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-28843284