Detalhe da pesquisa
1.
Integrating non-mammalian model organisms in the diagnosis of rare genetic diseases in humans.
Nat Rev Genet
; 25(1): 46-60, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37491400
2.
A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases.
Cell
; 159(1): 200-214, 2014 Sep 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-25259927
3.
De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features.
Am J Hum Genet
; 111(4): 742-760, 2024 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38479391
4.
Loss of the endoplasmic reticulum protein Tmem208 affects cell polarity, development, and viability.
Proc Natl Acad Sci U S A
; 121(9): e2322582121, 2024 Feb 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-38381787
5.
Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies.
Am J Hum Genet
; 110(11): 1919-1937, 2023 11 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37827158
6.
Bi-allelic variants in INTS11 are associated with a complex neurological disorder.
Am J Hum Genet
; 110(5): 774-789, 2023 05 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37054711
7.
De novo variants in FRMD5 are associated with developmental delay, intellectual disability, ataxia, and abnormalities of eye movement.
Am J Hum Genet
; 109(10): 1932-1943, 2022 10 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36206744
8.
The microRNA processor DROSHA is a candidate gene for a severe progressive neurological disorder.
Hum Mol Genet
; 31(17): 2934-2950, 2022 08 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-35405010
9.
TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila.
Am J Hum Genet
; 108(9): 1669-1691, 2021 09 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34314705
10.
Improving access to exome sequencing in a medically underserved population through the Texome Project.
Genet Med
; 26(6): 101102, 2024 Feb 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38431799
11.
Homozygous missense variants in YKT6 result in loss of function and are associated with developmental delay, with or without severe infantile liver disease and risk for hepatocellular carcinoma.
Genet Med
; : 101125, 2024 Mar 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38522068
12.
Rare deleterious de novo missense variants in Rnf2/Ring2 are associated with a neurodevelopmental disorder with unique clinical features.
Hum Mol Genet
; 30(14): 1283-1292, 2021 06 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-33864376
13.
De Novo Variants in CDK19 Are Associated with a Syndrome Involving Intellectual Disability and Epileptic Encephalopathy.
Am J Hum Genet
; 106(5): 717-725, 2020 05 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32330417
14.
De novo variants in MRTFB have gain-of-function activity in Drosophila and are associated with a novel neurodevelopmental phenotype with dysmorphic features.
Genet Med
; 25(6): 100833, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37013900
15.
Dicarboxylic acylcarnitine biomarkers in peroxisome biogenesis disorders.
Mol Genet Metab
; 140(3): 107680, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37567036
16.
An Integrated Phenotypic and Genotypic Approach Reveals a High-Risk Subtype Association for EBF3 Missense Variants Affecting the Zinc Finger Domain.
Ann Neurol
; 92(1): 138-153, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35340043
17.
Novel CIC variants identified in individuals with neurodevelopmental phenotypes.
Hum Mutat
; 43(7): 889-899, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35165976
18.
ModelMatcher: A scientist-centric online platform to facilitate collaborations between stakeholders of rare and undiagnosed disease research.
Hum Mutat
; 43(6): 743-759, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35224820
19.
De novo mutations in TOMM70, a receptor of the mitochondrial import translocase, cause neurological impairment.
Hum Mol Genet
; 29(9): 1568-1579, 2020 06 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32356556
20.
A Genocentric Approach to Discovery of Mendelian Disorders.
Am J Hum Genet
; 105(5): 974-986, 2019 11 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31668702