Detalhe da pesquisa
1.
A DNA repair disorder caused by de novo monoallelic DDB1 variants is associated with a neurodevelopmental syndrome.
Am J Hum Genet
; 108(4): 749-756, 2021 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33743206
2.
CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity.
Epilepsia
; 62(7): e103-e109, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34041744
3.
The evolution of genetic counseling graduate education in New York City during the COVID-19 pandemic: In the eye of the storm.
J Genet Couns
; 30(4): 1057-1068, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34218495
4.
De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures.
Am J Hum Genet
; 101(4): 516-524, 2017 Oct 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28942967
5.
De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder.
Genet Med
; 22(3): 538-546, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31723249
6.
Correction: Evaluation of the cost and effectiveness of diverse recruitment methods for a genetic screening study.
Genet Med
; 21(10): 2407, 2019 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-31040387
7.
Evaluation of the cost and effectiveness of diverse recruitment methods for a genetic screening study.
Genet Med
; 21(10): 2371-2380, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30930462
8.
Questioning the validity of clinically available breast cancer polygenic risk scores: comparison of two labs reveals discrepancies.
Fam Cancer
; 21(2): 125-127, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34002349
9.
The Lived Experience of MRKH: Sharing Health Information with Peers.
J Pediatr Adolesc Gynecol
; 29(2): 154-8, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26453829
10.
Adverse events in cancer genetic testing: the third case series.
Cancer J
; 20(4): 246-53, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25098283