Detalhe da pesquisa
1.
Managing differential performance of polygenic risk scores across groups: Real-world experience of the eMERGE Network.
Am J Hum Genet
; 2024 Apr 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38688278
2.
Prospective, multi-site study of healthcare utilization after actionable monogenic findings from clinical sequencing.
Am J Hum Genet
; 110(11): 1950-1958, 2023 11 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37883979
3.
Education and electronic medical records and genomics network, challenges, and lessons learned from a large-scale clinical trial using polygenic risk scores.
Genet Med
; 25(9): 100906, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37246632
4.
Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment.
Am J Hum Genet
; 105(5): 987-995, 2019 11 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31587868
5.
The reckoning: The return of genomic results to 1444 participants across the eMERGE3 Network.
Genet Med
; 24(5): 1130-1138, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35216901
6.
Do research participants share genomic screening results with family members?
J Genet Couns
; 31(2): 447-458, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34665896
7.
Trisomy 9 mosaic syndrome: Sixteen additional patients with new and/or less commonly reported features, literature review, and suggested clinical guidelines.
Am J Med Genet A
; 185(8): 2374-2383, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33969943
8.
Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome.
Am J Med Genet A
; 185(6): 1649-1665, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33783954
9.
Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy.
Hum Mutat
; 41(3): 641-654, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31769566
10.
Participant choices for return of genomic results in the eMERGE Network.
Genet Med
; 22(11): 1821-1829, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32669677
11.
Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia.
Am J Hum Genet
; 98(4): 782-8, 2016 Apr 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27040691
12.
Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.
Genet Med
; 20(10): 1175-1185, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29469822
13.
Expanding the phenotypic spectrum of TP63-related disorders including the first set of monozygotic twins.
Am J Med Genet A
; 176(1): 75-81, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29130604
14.
De novo missense variants in MEIS2 recapitulate the microdeletion phenotype of cardiac and palate abnormalities, developmental delay, intellectual disability and dysmorphic features.
Am J Med Genet A
; 176(9): 1845-1851, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30055086
15.
De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea.
Am J Hum Genet
; 94(5): 784-9, 2014 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24791903
16.
CMIP haploinsufficiency in two patients with autism spectrum disorder and co-occurring gastrointestinal issues.
Am J Med Genet A
; 173(8): 2101-2107, 2017 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-28504353
17.
Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update.
Hum Mutat
; 37(2): 148-54, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26507355
18.
Mutations in SPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome.
J Med Genet
; 52(2): 104-10, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25412741
19.
Expanding the SPECC1L mutation phenotypic spectrum to include Teebi hypertelorism syndrome.
Am J Med Genet A
; 167A(11): 2497-502, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26111080
20.
CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases.
Am J Med Genet A
; 164A(10): 2557-66, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25123255