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.
Exome/Genome Sequencing in Undiagnosed Syndromes.
Annu Rev Med
; 74: 489-502, 2023 01 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-36706750
3.
An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome.
Am J Hum Genet
; 109(10): 1867-1884, 2022 10 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36130591
4.
The best of both worlds: Blending cutting-edge research with clinical processes for a productive exome clinic.
Clin Genet
; 105(1): 62-71, 2024 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37853563
5.
SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia.
Brain
; 146(4): 1420-1435, 2023 04 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-36718090
6.
A concurrent dual analysis of genomic data augments diagnoses: Experiences of 2 clinical sites in the Undiagnosed Diseases Network.
Genet Med
; 25(4): 100353, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36481303
7.
Unraveling non-participation in genomic research: A complex interplay of barriers, facilitators, and sociocultural factors.
J Genet Couns
; 32(5): 993-1008, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37005744
8.
Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay.
Am J Hum Genet
; 104(1): 164-178, 2019 01 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30580808
9.
Clinical application of a scale to assess genomic healthcare empowerment (GEmS): Process and illustrative case examples.
J Genet Couns
; 31(1): 59-70, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34115423
10.
IRF2BPL Is Associated with Neurological Phenotypes.
Am J Hum Genet
; 103(2): 245-260, 2018 08 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30057031
11.
Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations.
Genet Med
; 23(10): 1922-1932, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34163037
12.
Phenotypic expansion of KMT2D-related disorder: Beyond Kabuki syndrome.
Am J Med Genet A
; 182(5): 1053-1065, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32083401
13.
Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of seven new subjects and review of the literature.
J Inherit Metab Dis
; 43(6): 1321-1332, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32588908
14.
Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies.
Genet Med
; 21(8): 1797-1807, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30679821
15.
Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases.
Genet Med
; 20(4): 464-469, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28914269
16.
Characteristics of undiagnosed diseases network applicants: implications for referring providers.
BMC Health Serv Res
; 18(1): 652, 2018 Aug 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-30134969
17.
Psychosocial Profiles of Parents of Children with Undiagnosed Diseases: Managing Well or Just Managing?
J Genet Couns
; 27(4): 935-946, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29297108
18.
Understanding Adult Participant and Parent Empowerment Prior to Evaluation in the Undiagnosed Diseases Network.
J Genet Couns
; 27(5): 1087-1101, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29497923
19.
Neonatal nonepileptic myoclonus is a prominent clinical feature of KCNQ2 gain-of-function variants R201C and R201H.
Epilepsia
; 58(3): 436-445, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28139826
20.
IRF2BPL Is Associated with Neurological Phenotypes.
Am J Hum Genet
; 103(3): 456, 2018 09 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30193138