Detalhe da pesquisa
1.
Rare variant associations with plasma protein levels in the UK Biobank.
Nature
; 622(7982): 339-347, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37794183
2.
Genotyping, sequencing and analysis of 140,000 adults from Mexico City.
Nature
; 622(7984): 784-793, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37821707
3.
Rare variant contribution to human disease in 281,104 UK Biobank exomes.
Nature
; 597(7877): 527-532, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34375979
4.
Effects of protein-coding variants on blood metabolite measurements and clinical biomarkers in the UK Biobank.
Am J Hum Genet
; 110(3): 487-498, 2023 03 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36809768
5.
Author Correction: Genotyping, sequencing and analysis of 140,000 adults from Mexico City.
Nature
; 626(8001): E18, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38332034
6.
100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.
N Engl J Med
; 385(20): 1868-1880, 2021 11 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34758253
7.
Uncovering variable neoplasms between ATM protein-truncating and common missense variants using 394 694 UK Biobank exomes.
Genes Chromosomes Cancer
; 61(9): 523-529, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35394676
8.
Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS.
Am J Hum Genet
; 105(1): 151-165, 2019 07 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31230722
9.
Splice-altering variant in COL11A1 as a cause of nonsyndromic hearing loss DFNA37.
Genet Med
; 21(4): 948-954, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30245514
10.
Structurally conserved erythrocyte-binding domain in Plasmodium provides a versatile scaffold for alternate receptor engagement.
Proc Natl Acad Sci U S A
; 113(2): E191-200, 2016 Jan 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-26715754
11.
Homozygous mutation of STXBP5L explains an autosomal recessive infantile-onset neurodegenerative disorder.
Hum Mol Genet
; 24(7): 2000-10, 2015 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25504045
12.
A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome.
Am J Hum Genet
; 94(2): 209-22, 2014 Feb 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-24462369
13.
Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis.
Hum Mol Genet
; 22(7): 1417-23, 2013 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23297359
14.
Autosomal-recessive congenital cerebellar ataxia is caused by mutations in metabotropic glutamate receptor 1.
Am J Hum Genet
; 91(3): 553-64, 2012 Sep 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-22901947
15.
Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage.
Am J Hum Genet
; 90(6): 1102-7, 2012 Jun 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-22608501
16.
Using familial information for variant filtering in high-throughput sequencing studies.
Hum Genet
; 133(11): 1331-41, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25129038
17.
Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6.
Am J Hum Genet
; 88(5): 566-73, 2011 May 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-21549341
18.
Implicit memory formation using the word stem completion task during anesthesia in children.
Paediatr Anaesth
; 24(3): 290-6, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24219512
19.
Protein-truncating variants in BSN are associated with severe adult-onset obesity, type 2 diabetes and fatty liver disease.
Nat Genet
; 56(4): 579-584, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38575728
20.
Subtalar fusion for pes valgus in cerebral palsy: results of a modified technique in the setting of single event multilevel surgery.
J Pediatr Orthop
; 33(4): 431-8, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23653034