Detalhe da pesquisa
1.
Mutations of the histone linker H1-4 in neurodevelopmental disorders and functional characterization of neurons expressing C-terminus frameshift mutant H1.4.
Hum Mol Genet
; 31(9): 1430-1442, 2022 05 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34788807
2.
Improving access to exome sequencing in a medically underserved population through the Texome Project.
Genet Med
; 26(6): 101102, 2024 Feb 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38431799
3.
A familial deletion of 10p12.1 associated with thrombocytopenia.
Am J Med Genet A
; 194(1): 77-81, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37746810
4.
De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism.
Am J Hum Genet
; 107(2): 352-363, 2020 08 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32693025
5.
Cascade testing after exome sequencing: Retrospective analysis of linked family data at 2 US laboratories.
Genet Med
; 25(5): 100818, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36852743
6.
Access to clinically indicated genetic tests for pediatric patients with Medicaid: Evidence from outpatient genetics clinics in Texas.
Genet Med
; 25(3): 100350, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36547467
7.
Clinical genome sequencing: Three years' experience at a tertiary children's hospital.
Genet Med
; 25(10): 100916, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37334785
8.
A novel de novo pathogenic variant in TBL1XR1 as a new proposed cause of Pierpont syndrome.
Am J Med Genet A
; 191(6): 1576-1580, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36843287
9.
Novel phenotype of aortic root dilatation and late-onset metabolic decompensation in a patient with TMEM70 deficiency.
Am J Med Genet A
; 191(5): 1366-1372, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36751706
10.
Perceived impact of ethnocultural competency training on genetic counselors' clinical interactions.
J Genet Couns
; 2023 Aug 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37563805
11.
Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging.
Am J Hum Genet
; 105(3): 493-508, 2019 09 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31447100
12.
Retrospective analysis of a clinical exome sequencing cohort reveals the mutational spectrum and identifies candidate disease-associated loci for BAFopathies.
Genet Med
; 24(2): 364-373, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906496
13.
De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations.
Genet Med
; 24(9): 1952-1966, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35916866
14.
Outcomes of prior authorization requests for genetic testing in outpatient pediatric genetics clinics.
Genet Med
; 23(5): 950-955, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33473204
15.
Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities.
Genet Med
; 23(7): 1234-1245, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33824499
16.
PPP3CA truncating variants clustered in the regulatory domain cause early-onset refractory epilepsy.
Clin Genet
; 100(2): 227-233, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33963760
17.
BAZ2B haploinsufficiency as a cause of developmental delay, intellectual disability, and autism spectrum disorder.
Hum Mutat
; 41(5): 921-925, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31999386
18.
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
19.
Functional evaluation of the C-terminal region of bacteriophage T4 Rad50.
Biochem Biophys Res Commun
; 526(2): 485-490, 2020 05 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-32238267
20.
Kenny-Caffey Syndrome Type 2: A Unique Presentation and Craniofacial Analysis.
J Craniofac Surg
; 31(5): e471-e475, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32310878