Detalhe da pesquisa
1.
COL11A2 as a candidate gene for vertebral malformations and congenital scoliosis.
Hum Mol Genet
; 32(19): 2913-2928, 2023 09 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-37462524
2.
Implementing Evidence-Based Assertions of Clinical Actionability in the Context of Secondary Findings: Updates from the ClinGen Actionability Working Group.
Genet Med
; : 101164, 2024 May 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-38757444
3.
Taste-masked formulation of sodium phenylbutyrate (ACER-001) for the treatment of urea cycle disorders.
Mol Genet Metab
; 138(4): 107558, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37004302
4.
Myhre syndrome is caused by dominant-negative dysregulation of SMAD4 and other co-factors.
Differentiation
; 128: 1-12, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36194927
5.
Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice.
Hum Mol Genet
; 29(22): 3662-3678, 2020 12 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33276377
6.
Guidance on use of race, ethnicity, and geographic origin as proxies for genetic ancestry groups in biomedical publications.
Am J Hum Genet
; 111(4): 621-623, 2024 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38479392
7.
ClinGen's Pediatric Actionability Working Group: Clinical actionability of secondary findings from genome-scale sequencing in children and adolescents.
Genet Med
; 24(6): 1328-1335, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35341655
8.
Real-world effectiveness of burosumab in children with X-linked hypophosphatemic rickets.
Pediatr Nephrol
; 37(11): 2667-2677, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35211790
9.
A 17-Month-old Boy With Pancytopenia Caused by a Rare Genetic Defect of Vitamin B12 Malabsorption.
J Pediatr Hematol Oncol
; 44(2): e444-e446, 2022 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34054045
10.
Statins for Smith-Lemli-Opitz syndrome.
Cochrane Database Syst Rev
; 11: CD013521, 2022 11 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-36373961
11.
Genetic counseling and screening of consanguineous couples and their offspring practice resource: Focused Revision.
J Genet Couns
; 30(5): 1354-1357, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34309119
12.
KIAA1217: A novel candidate gene associated with isolated and syndromic vertebral malformations.
Am J Med Genet A
; 182(7): 1664-1672, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32369272
13.
Hearing loss in individuals with osteogenesis imperfecta in North America: Results from a multicenter study.
Am J Med Genet A
; 182(4): 697-704, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31876392
14.
Guidance on Use of Race, Ethnicity, and Geographic Origin as Proxies for Genetic Ancestry Groups in Biomedical Publications.
Genet Med
; 26(5): 101118, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38488074
15.
Growth characteristics in individuals with osteogenesis imperfecta in North America: results from a multicenter study.
Genet Med
; 21(2): 275-283, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29970925
16.
Mobility in osteogenesis imperfecta: a multicenter North American study.
Genet Med
; 21(10): 2311-2318, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30918359
17.
Development of Clinical Domain Working Groups for the Clinical Genome Resource (ClinGen): lessons learned and plans for the future.
Genet Med
; 21(4): 987-993, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30181607
18.
Guidance on Use of Race, Ethnicity, and Geographic Origin as Proxies for Genetic Ancestry Groups in Biomedical Publications.
JAMA
; 331(15): 1276-1278, 2024 Apr 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38470200
19.
ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene-level specification of the ACMG/AMP guidelines for sequence variant interpretation.
Hum Mutat
; 39(11): 1614-1622, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30311389
20.
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