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.
De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling.
Am J Hum Genet
; 110(8): 1377-1393, 2023 08 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37451268
4.
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
5.
Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability and autistic features.
Hum Mol Genet
; 32(20): 2981-2995, 2023 Oct 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37531237
6.
Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders.
Am J Hum Genet
; 108(8): 1450-1465, 2021 08 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34186028
7.
Striated preferentially expressed gene deficiency leads to mitochondrial dysfunction in developing cardiomyocytes.
Basic Res Cardiol
; 119(1): 151-168, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38145999
8.
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
9.
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
10.
SPEG binds with desmin and its deficiency causes defects in triad and focal adhesion proteins.
Hum Mol Genet
; 29(24): 3882-3891, 2021 02 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-33355670
11.
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
12.
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
13.
Pulmonary Hypertension in Infants and Children with Vein of Galen Malformation and Association with Clinical Outcomes.
J Pediatr
; 258: 113404, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37023946
14.
Tethered cord syndrome in KBG syndrome.
Am J Med Genet A
; 191(5): 1222-1226, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36722669
15.
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
16.
Endocrine and behavioural features of Lowe syndrome and their potential molecular mechanisms.
J Med Genet
; 59(12): 1171-1178, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35803701
17.
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
18.
Knockin mouse model of the human CFL2 p.A35T mutation results in a unique splicing defect and severe myopathy phenotype.
Hum Mol Genet
; 29(12): 1996-2003, 2020 07 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-32160286
19.
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
20.
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