Detalhe da pesquisa
1.
The 8th International RASopathies Symposium: Expanding research and care practice through global collaboration and advocacy.
Am J Med Genet A
; 194(4): e63477, 2024 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-37969032
2.
Barriers to a successful healthcare transition for individuals with urea cycle disorders.
Mol Genet Metab
; 139(3): 107609, 2023 07.
Artigo
Inglês
| MEDLINE | ID: mdl-37245377
3.
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
Inglês
| MEDLINE | ID: mdl-34906496
4.
Wide range of phenotypic severity in individuals with late truncations unique to the predominant CDKL5 transcript in the brain.
Am J Med Genet A
; 188(12): 3516-3524, 2022 12.
Artigo
Inglês
| MEDLINE | ID: mdl-35934918
5.
The seventh international RASopathies symposium: Pathways to a cure-expanding knowledge, enhancing research, and therapeutic discovery.
Am J Med Genet A
; 188(6): 1915-1927, 2022 06.
Artigo
Inglês
| MEDLINE | ID: mdl-35266292
6.
De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features.
Am J Hum Genet
; 103(1): 154-162, 2018 07 05.
Artigo
Inglês
| MEDLINE | ID: mdl-29961569
7.
Characterization of genetic counselor practices in inpatient care settings.
J Genet Couns
; 30(4): 1181-1190, 2021 08.
Artigo
Inglês
| MEDLINE | ID: mdl-33713511
8.
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
Inglês
| MEDLINE | ID: mdl-31769566
9.
De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction.
Am J Hum Genet
; 101(5): 833-843, 2017 Nov 02.
Artigo
Inglês
| MEDLINE | ID: mdl-29100093
10.
The sixth international RASopathies symposium: Precision medicine-From promise to practice.
Am J Med Genet A
; 182(3): 597-606, 2020 03.
Artigo
Inglês
| MEDLINE | ID: mdl-31825160
11.
Evaluation and classification of severity for 176 genes on an expanded carrier screening panel.
Prenat Diagn
; 40(10): 1246-1257, 2020 09.
Artigo
Inglês
| MEDLINE | ID: mdl-32474937
12.
Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy.
Hum Mol Genet
; 26(24): 4937-4950, 2017 12 15.
Artigo
Inglês
| MEDLINE | ID: mdl-29040572
13.
De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations.
Am J Hum Genet
; 98(2): 373-81, 2016 Feb 04.
Artigo
Inglês
| MEDLINE | ID: mdl-26833328
14.
Review of the phenotypic spectrum associated with haploinsufficiency of MYRF.
Am J Med Genet A
; 179(7): 1376-1382, 2019 07.
Artigo
Inglês
| MEDLINE | ID: mdl-31069960
15.
Genetic counselors on the frontline of precision health.
Am J Med Genet C Semin Med Genet
; 178(1): 5-9, 2018 03.
Artigo
Inglês
| MEDLINE | ID: mdl-29582554
16.
Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome.
Am J Hum Genet
; 97(5): 691-707, 2015 Nov 05.
Artigo
Inglês
| MEDLINE | ID: mdl-26544804
17.
Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features.
Hum Genet
; 136(4): 377-386, 2017 04.
Artigo
Inglês
| MEDLINE | ID: mdl-28251352
18.
Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome.
Am J Hum Genet
; 95(5): 579-83, 2014 Nov 06.
Artigo
Inglês
| MEDLINE | ID: mdl-25439098
19.
Reanalysis of Clinical Exome Sequencing Data.
N Engl J Med
; 380(25): 2478-2480, 2019 06 20.
Artigo
Inglês
| MEDLINE | ID: mdl-31216405
20.
Clinical and molecular characterization of de novo loss of function variants in HNRNPU.
Am J Med Genet A
; 173(10): 2680-2689, 2017 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-28815871