Detalhe da pesquisa
1.
Functional and structural analysis of cytokine-selective IL6ST defects that cause recessive hyper-IgE syndrome.
J Allergy Clin Immunol
; 148(2): 585-598, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33771552
2.
Compound heterozygous KCTD7 variants in progressive myoclonus epilepsy.
J Neurogenet
; 35(2): 74-83, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33970744
3.
Extracutaneous manifestations in phacomatosis cesioflammea and cesiomarmorata: Case series and literature review.
Am J Med Genet A
; 179(6): 966-977, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30920161
4.
A toolkit for genetics providers in follow-up of patients with non-diagnostic exome sequencing.
J Genet Couns
; 28(2): 213-228, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30964584
5.
Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase Gene.
Hum Mutat
; 39(11): 1569-1580, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30311390
6.
ClinGen Variant Curation Interface: a variant classification platform for the application of evidence criteria from ACMG/AMP guidelines.
Genome Med
; 14(1): 6, 2022 01 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-35039090
7.
Identification of rare and common regulatory variants in pluripotent cells using population-scale transcriptomics.
Nat Genet
; 53(3): 313-321, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33664507
8.
Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts.
Nat Med
; 25(6): 911-919, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31160820
9.
Exome sequencing identifies de novo pathogenic variants in FBN1 and TRPS1 in a patient with a complex connective tissue phenotype.
Cold Spring Harb Mol Case Stud
; 3(1): a001388, 2017 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-28050602