Detalhe da pesquisa
1.
Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients.
Genet Med
; 25(9): 100880, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37158195
2.
Identification of copy number variants with genome sequencing: Clinical experiences from the NYCKidSeq program.
Clin Genet
; 104(2): 210-225, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37334874
3.
Detection of mosaic variants using genome sequencing in a large pediatric cohort.
Am J Med Genet A
; 191(3): 699-710, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36563179
4.
Recessive Rare Variants in Deoxyhypusine Synthase, an Enzyme Involved in the Synthesis of Hypusine, Are Associated with a Neurodevelopmental Disorder.
Am J Hum Genet
; 104(2): 287-298, 2019 02 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30661771
5.
A homozygous splice variant in ATP5PO, disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated families.
J Inherit Metab Dis
; 45(5): 996-1012, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35621276
6.
A novel homozygous variant in TRAPPC2L results in a neurodevelopmental disorder and disrupts TRAPP complex function.
J Med Genet
; 58(9): 592-601, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32843486
7.
Clinical and genomic characterization of 8p cytogenomic disorders.
Genet Med
; 23(12): 2342-2351, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34282301
8.
Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies.
Genet Med
; 23(9): 1715-1725, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34054129
9.
Early-Onset Parkinsonism Is a Manifestation of the PPP2R5D p.E200K Mutation.
Ann Neurol
; 88(5): 1028-1033, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32743835
10.
Neuropathological Findings in a Case of Parkinsonism and Developmental Delay Associated with a Monoallelic Variant in PLXNA1.
Mov Disord
; 36(11): 2681-2687, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34415653
11.
De novo heterozygous missense and loss-of-function variants in CDC42BPB are associated with a neurodevelopmental phenotype.
Am J Med Genet A
; 182(5): 962-973, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32031333
12.
Biallelic variants in AGMO with diminished enzyme activity are associated with a neurodevelopmental disorder.
Hum Genet
; 138(11-12): 1259-1266, 2019 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-31555905
13.
Pulmonary hypertension in patients with 9q34.3 microdeletion-associated Kleefstra syndrome.
Am J Med Genet A
; 176(8): 1773-1777, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30063093
14.
Reply to "PPP2R5D Genetic Mutations and Early Onset Parkinsonism".
Ann Neurol
; 89(1): 195-196, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33098324
15.
De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features.
Hum Genet
; 135(7): 699-705, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27048600
16.
HIF1A as a major vascular endothelial growth factor regulator: do its polymorphisms have an association with age-related macular degeneration?
Clin Exp Ophthalmol
; 43(1): 47-53, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-24995509
17.
A study on the rheological properties of recycled rubber-modified asphalt mixtures.
ScientificWorldJournal
; 2015: 258586, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25695096
18.
Implementation of Rapid Genome Sequencing for Critically Ill Infants With Complex Congenital Heart Disease.
Circ Genom Precis Med
; 16(5): 415-420, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37417234
19.
Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients.
medRxiv
; 2023 Mar 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-36993157
20.
Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis.
medRxiv
; 2023 Aug 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-38328047