Detalhe da pesquisa
1.
Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease.
Am J Hum Genet
; 111(5): 863-876, 2024 May 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38565148
2.
Beyond the exome: What's next in diagnostic testing for Mendelian conditions.
Am J Hum Genet
; 110(8): 1229-1248, 2023 08 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37541186
3.
Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndrome.
Am J Hum Genet
; 110(12): 2112-2119, 2023 Dec 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37963460
4.
Re: "Next generation sequencing in neonatology: what does it mean for the next generation?"
Hum Genet
; 142(2): 161-164, 2023 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-36355221
5.
Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical Defects.
Am J Hum Genet
; 107(6): 1170-1177, 2020 12 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33232677
6.
Hospital-level variation in genetic testing in children's hospitals' neonatal intensive care units from 2016 to 2021.
Genet Med
; 25(3): 100357, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36521640
7.
Provision and availability of genomic medicine services in Level IV neonatal intensive care units.
Genet Med
; 25(10): 100926, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37422715
8.
Jansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families.
Am J Med Genet A
; 191(7): 1900-1910, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37183572
9.
Rare diseases, common barriers: disparities in pediatric clinical genetics outcomes.
Pediatr Res
; 93(1): 110-117, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35963884
10.
Sudden Unexplained Death in Childhood: Current Understanding.
Pediatr Emerg Care
; 39(12): 979-983, 2023 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38019718
11.
Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency.
Hum Mutat
; 43(4): 461-470, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35094443
12.
Distinct effects on mRNA export factor GANP underlie neurological disease phenotypes and alter gene expression depending on intron content.
Hum Mol Genet
; 29(9): 1426-1439, 2020 06 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32202298
13.
De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder.
Am J Hum Genet
; 105(2): 403-412, 2019 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31303265
14.
Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging.
Am J Hum Genet
; 105(3): 493-508, 2019 09 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31447100
15.
Perspectives of United States neonatologists on genetic testing practices.
Genet Med
; 24(6): 1372-1377, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35304021
16.
Delayed diagnosis and racial bias in children with genetic conditions.
Am J Med Genet A
; 188(4): 1118-1123, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35037400
17.
Ethical implications of early genetic diagnosis in an infant with Lesch-Nyhan syndrome.
J Genet Couns
; 31(6): 1434-1437, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35916015
18.
Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia.
Am J Hum Genet
; 102(5): 744-759, 2018 05 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29656859
19.
Discordant results between conventional newborn screening and genomic sequencing in the BabySeq Project.
Genet Med
; 23(7): 1372-1375, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33772220
20.
Neuroimaging in Kabuki syndrome and another KMT2D-related disorder.
Am J Med Genet A
; 185(12): 3770-3783, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34369642