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.
Actionability of unanticipated monogenic disease risks in newborn genomic screening: Findings from the BabySeq Project.
Am J Hum Genet
; 110(7): 1034-1045, 2023 07 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37279760
3.
Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy.
Am J Hum Genet
; 110(1): 120-145, 2023 01 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36528028
4.
Titin copy number variations associated with dominant inherited phenotypes.
J Med Genet
; 61(4): 369-377, 2024 Mar 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37935568
5.
High number of candidate gene variants are identified as disease-causing in a period of 4 years.
Am J Med Genet A
; 194(5): e63509, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38158391
6.
A homozygous stop-gain variant in ARHGAP42 is associated with childhood interstitial lung disease, systemic hypertension, and immunological findings.
PLoS Genet
; 17(7): e1009639, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34232960
7.
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
8.
De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation.
Am J Hum Genet
; 106(4): 570-583, 2020 04 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32197074
9.
Parents' decision-making regarding whether to receive adult-onset only genetic findings for their children: Findings from the BabySeq Project.
Genet Med
; 25(3): 100002, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36549595
10.
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
11.
De novo variants in MPP5 cause global developmental delay and behavioral changes.
Hum Mol Genet
; 29(20): 3388-3401, 2020 12 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-33073849
12.
Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project.
Am J Hum Genet
; 104(1): 76-93, 2019 01 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30609409
13.
Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease.
N Engl J Med
; 381(17): 1644-1652, 2019 10 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-31597037
14.
X-linked myotubular myopathy is associated with epigenetic alterations and is ameliorated by HDAC inhibition.
Acta Neuropathol
; 144(3): 537-563, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35844027
15.
RCL1 copy number variants are associated with a range of neuropsychiatric phenotypes.
Mol Psychiatry
; 26(5): 1706-1718, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33597717
16.
Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome.
Mol Psychiatry
; 26(6): 2013-2024, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32346159
17.
Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy.
Am J Hum Genet
; 110(3): 548, 2023 Mar 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36868207
18.
The Genetic Landscape of Diamond-Blackfan Anemia.
Am J Hum Genet
; 103(6): 930-947, 2018 12 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30503522
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.
Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior.
Genet Med
; 23(6): 1028-1040, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33658631