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.
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
3.
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
4.
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
5.
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
6.
The recurrent de novo c.2011C>T missense variant in MTSS2 causes syndromic intellectual disability.
Am J Hum Genet;
109(10): 1923-1931, 2022 10 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36067766
7.
Systematic expression profiling of Dpr and DIP genes reveals cell surface codes in Drosophila larval motor and sensory neurons.
Development;
149(10)2022 05 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35502740
8.
Novel dominant and recessive variants in human ROBO1 cause distinct neurodevelopmental defects through different mechanisms.
Hum Mol Genet;
31(16): 2751-2765, 2022 08 23.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35348658
9.
De novo variants in EMC1 lead to neurodevelopmental delay and cerebellar degeneration and affect glial function in Drosophila.
Hum Mol Genet;
31(19): 3231-3244, 2022 09 29.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35234901
10.
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
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.
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
13.
De novo FZR1 loss-of-function variants cause developmental and epileptic encephalopathies.
Brain;
145(5): 1684-1697, 2022 06 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34788397
14.
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
15.
De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia.
Am J Hum Genet;
105(2): 413-424, 2019 08 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31327508
16.
IRF2BPL Is Associated with Neurological Phenotypes.
Am J Hum Genet;
103(2): 245-260, 2018 08 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30057031
17.
Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11.
Genet Med;
23(10): 1889-1900, 2021 10.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34113007
18.
The recurrent de novo c.2011C>T missense variant in MTSS2 causes syndromic intellectual disability.
Am J Hum Genet;
109(11): 2092, 2022 Nov 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36332614
19.
A cellular process that includes asymmetric cytokinesis remodels the dorsal tracheal branches in Drosophila larvae.
Development;
142(10): 1794-805, 2015 May 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25968315
20.
Establishment of a Developmental Compartment Requires Interactions between Three Synergistic Cis-regulatory Modules.
PLoS Genet;
11(10): e1005376, 2015 Oct.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26468882