Detalhe da pesquisa
1.
Biallelic variants in GTF3C5, a regulator of RNA polymerase III-mediated transcription, cause a multisystem developmental disorder.
Hum Genet
; 143(3): 437-453, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38520561
2.
Inherited bone marrow failure with macrothrombocytopenia due to germline tubulin beta class I (TUBB) variant.
Br J Haematol
; 200(2): 222-228, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36207145
3.
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
4.
How parents of children with ataxia-telangiectasia use dynamic coping to navigate cyclical uncertainty.
J Genet Couns
; 2023 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-37183503
5.
Diagnostic testing laboratories are valuable partners for disease gene discovery: 5-year experience with GeneMatcher.
Hum Mutat
; 43(6): 772-781, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35143109
6.
Misattributed parentage identified through diagnostic exome sequencing: Frequency of detection and reporting practices.
J Genet Couns
; 31(3): 631-640, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-34826357
7.
Backpack health reduces data-sharing barriers between the medical community and individuals with rare diseases.
Am J Med Genet C Semin Med Genet
; 187(1): 7-13, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33277802
8.
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
Am J Hum Genet
; 101(5): 768-788, 2017 Nov 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29100089
9.
Clinical diagnostic exome sequencing in dystonia: Genetic testing challenges for complex conditions.
Clin Genet
; 97(2): 305-311, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31628766
10.
Genetic disorders and mortality in infancy and early childhood: delayed diagnoses and missed opportunities.
Genet Med
; 20(11): 1396-1404, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29790870
11.
Monogenic Hashimoto thyroiditis associated with a variant in the thyroglobulin (TG) gene.
J Autoimmun
; 86: 116-119, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28942902
12.
Three-generation family with novel contiguous gene deletion on chromosome 2p22 associated with thoracic aortic aneurysm syndrome.
Am J Med Genet A
; 176(3): 560-569, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29350460
13.
The Epithelial Sodium Channel Is a Modifier of the Long-Term Nonprogressive Phenotype Associated with F508del CFTR Mutations.
Am J Respir Cell Mol Biol
; 57(6): 711-720, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-28708422
14.
Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9.
Blood
; 126(25): 2734-8, 2015 Dec 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-26491070
15.
Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.
Muscle Nerve
; 55(5): 761-765, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27668699
16.
Clinical heterogeneity associated with KCNA1 mutations include cataplexy and nonataxic presentations.
Neurogenetics
; 17(1): 11-6, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26395884
17.
Overlapping 16p13.11 deletion and gain of copies variations associated with childhood onset psychosis include genes with mechanistic implications for autism associated pathways: Two case reports.
Am J Med Genet A
; 170A(5): 1165-73, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26887912
18.
Emerging Genetic Counselor Roles within the Biotechnology and Pharmaceutical Industries: as Industry Interest Grows in Rare Genetic Disorders, How are Genetic Counselors Joining the Discussion?
J Genet Couns
; 25(4): 708-19, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27017827
19.
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.
J Clin Invest
; 134(1)2024 Jan 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37962958
20.
PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production.
Sci Transl Med
; 15(698): eabo3189, 2023 05 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-37256937