Detalhe da pesquisa
1.
Returning actionable genomic results in a research biobank: Analytic validity, clinical implementation, and resource utilization.
Am J Hum Genet
; 108(12): 2224-2237, 2021 12 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34752750
2.
Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group.
Genet Med
; 26(3): 101036, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38054408
3.
Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders.
Am J Hum Genet
; 106(3): 338-355, 2020 03 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32109419
4.
Harmonizing variant classification for return of results in the All of Us Research Program.
Hum Mutat
; 43(8): 1114-1121, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34923710
5.
MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.
Brain
; 143(1): 55-68, 2020 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31834374
6.
Recognition and management of adults with Turner syndrome: From the transition of adolescence through the senior years.
Am J Med Genet A
; 179(10): 1987-2033, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31418527
7.
Parenthood among individuals with Turner syndrome: results of an online survey of attitudes towards pregnancy, adoption, and surrogacy.
J Community Genet
; 13(3): 263-270, 2022 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-35391658
8.
Development of a clinical polygenic risk score assay and reporting workflow.
Nat Med
; 28(5): 1006-1013, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35437332
9.
Genetic counseling for women with 45,X/46,XX mosaicism: Towards more personalized management.
Eur J Med Genet
; 64(3): 104140, 2021 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-33524610
10.
Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.
Nat Commun
; 10(1): 883, 2019 02 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30770872
11.
Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.
Nat Commun
; 10(1): 2079, 2019 May 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31048695
12.
Expanding the clinical and molecular findings in RASA1 capillary malformation-arteriovenous malformation.
Eur J Hum Genet
; 26(10): 1521-1536, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29891884
13.
CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.
Nat Commun
; 9(1): 4619, 2018 11 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30397230