Detalhe da pesquisa
1.
Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease.
Am J Hum Genet
; 110(8): 1394-1413, 2023 08 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37467750
2.
Intracranial calcifications simulating Aicardi-Goutières syndrome in PARS2-related mitochondrial disease.
Am J Med Genet A
; : e63589, 2024 Mar 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-38469956
3.
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
4.
The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder.
Hum Mutat
; 43(2): 266-282, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34859529
5.
Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration.
EMBO J
; 37(23)2018 12 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30420557
6.
Stankiewicz-Isidor syndrome: expanding the clinical and molecular phenotype.
Genet Med
; 24(1): 179-191, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906456
7.
Evidence for an association between Coffin-Siris syndrome and congenital diaphragmatic hernia.
Am J Med Genet A
; 188(9): 2718-2723, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35796094
8.
Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data.
Am J Med Genet A
; 188(10): 2958-2968, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35904974
9.
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
10.
Clinical characterization of individuals with the distal 1q21.1 microdeletion.
Am J Med Genet A
; 185(5): 1388-1398, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33576134
11.
Correction: Variants in MED12L, encoding a subunit of the Mediator kinase module, are responsible for intellectual disability associated with transcriptional defect.
Genet Med
; 21(11): 2663, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31267042
12.
Variants in MED12L, encoding a subunit of the mediator kinase module, are responsible for intellectual disability associated with transcriptional defect.
Genet Med
; 21(12): 2713-2722, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31155615
13.
Undergraduate Student Perceptions and Awareness of Genetic Counseling.
J Genet Couns
; 2018 Aug 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-30121717
14.
Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation.
Nat Commun
; 15(1): 365, 2024 Jan 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38191484
15.
Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases.
Cell Rep
; 38(11): 110517, 2022 03 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-35294868
16.
De novo variants in H3-3A and H3-3B are associated with neurodevelopmental delay, dysmorphic features, and structural brain abnormalities.
NPJ Genom Med
; 6(1): 104, 2021 Dec 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34876591
17.
KDM5A mutations identified in autism spectrum disorder using forward genetics.
Elife
; 92020 12 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-33350388
18.
Telephone survey to investigate relationships between onychectomy or onychectomy technique and house soiling in cats.
J Am Vet Med Assoc
; 249(6): 638-43, 2016 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-27585101