Detalhe da pesquisa
1.
Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome.
Am J Hum Genet
; 109(4): 750-758, 2022 04 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35202563
2.
Longitudinal multi-omics of host-microbe dynamics in prediabetes.
Nature
; 569(7758): 663-671, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31142858
3.
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
4.
Information-seeking preferences in diverse patients receiving a genetic testing result in the Clinical Sequencing Evidence-Generating Research (CSER) study.
Genet Med
; 25(9): 100899, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37212252
5.
Candidate variants in TUB are associated with familial tremor.
PLoS Genet
; 16(9): e1009010, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32956375
6.
Predicting genes from phenotypes using human phenotype ontology (HPO) terms.
Hum Genet
; 141(11): 1749-1760, 2022 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-35357580
7.
Perspectives and preferences regarding genomic secondary findings in underrepresented prenatal and pediatric populations: A mixed-methods approach.
Genet Med
; 24(6): 1206-1216, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35396980
8.
Integration of stakeholder engagement from development to dissemination in genomic medicine research: Approaches and outcomes from the CSER Consortium.
Genet Med
; 24(5): 1108-1119, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35227608
9.
Preference for secondary findings in prenatal and pediatric exome sequencing.
Prenat Diagn
; 42(6): 753-761, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34057224
10.
New cases that expand the genotypic and phenotypic spectrum of Congenital NAD Deficiency Disorder.
Hum Mutat
; 42(7): 862-876, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33942433
11.
A review and definition of 'usual care' in genetic counseling trials to standardize use in research.
J Genet Couns
; 30(1): 42-50, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33278053
12.
The expanding spectrum of NFIB-associated phenotypes in a diverse patient population-A report of two new patients.
Am J Med Genet A
; 182(12): 2959-2963, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32902921
13.
A novel truncating variant in ring finger protein 113A (RNF113A) confirms the association of this gene with X-linked trichothiodystrophy.
Am J Med Genet A
; 182(3): 513-520, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31880405
14.
Digital Health: Tracking Physiomes and Activity Using Wearable Biosensors Reveals Useful Health-Related Information.
PLoS Biol
; 15(1): e2001402, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28081144
15.
Developmental and epileptic encephalopathy in two siblings with a novel, homozygous missense variant in SCN1B.
Am J Med Genet A
; 179(11): 2190-2195, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31465153
16.
Much ado about nothing: A qualitative study of the experiences of an average-risk population receiving results of exome sequencing.
J Genet Couns
; 28(2): 428-437, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30835913
17.
Developing a genomics rotation: Practical training around variant interpretation for genetic counseling students.
J Genet Couns
; 28(2): 466-476, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30706981
18.
Evidence-based assessments of clinical actionability in the context of secondary findings: Updates from ClinGen's Actionability Working Group.
Hum Mutat
; 39(11): 1677-1685, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30311382
19.
Association of AHSG with alopecia and mental retardation (APMR) syndrome.
Hum Genet
; 136(3): 287-296, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28054173
20.
The Need to Standardize the Reanalysis of Genomic Sequencing Results: Findings from Interviews with Underserved Families in Genomic Research.
J Bioeth Inq
; 2023 Aug 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-37624546