Detalhe da pesquisa
1.
Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
Am J Hum Genet
; 101(4): 503-515, 2017 Oct 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28942966
2.
Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study.
Genet Med
; 21(5): 1100-1110, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30287922
3.
Correction: Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study.
Genet Med
; 21(5): 1261-1262, 2019 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-30670880
4.
The genetics of vascular birthmarks.
Clin Dermatol
; 40(4): 313-321, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35181412
5.
Agents of empathy: How medical interpreters bridge sociocultural gaps in genomic sequencing disclosures with Spanish-speaking families.
Patient Educ Couns
; 102(5): 895-901, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30581014
6.
Portero versus portador: Spanish interpretation of genomic terminology during whole exome sequencing results disclosure.
Per Med
; 14(6): 503-514, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29749861
7.
Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond-like features.
J Clin Invest
; 127(11): 4090-4103, 2017 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28972538