Detalhe da pesquisa
1.
Comprehensive phenotypes of patients with SYNGAP1-related disorder reveals high rates of epilepsy and autism.
Epilepsia;
65(5): 1428-1438, 2024 May.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38470175
2.
Delineating clinical and developmental outcomes in STXBP1-related disorders.
Brain;
146(12): 5182-5197, 2023 12 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38015929
3.
De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder.
Am J Hum Genet;
104(4): 709-720, 2019 04 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30905399
4.
De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders.
Am J Hum Genet;
104(1): 139-156, 2019 01 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30595372
5.
The phenotypic and genetic spectrum of patients with heterozygous mutations in cyclin M2 (CNNM2).
Hum Mutat;
42(4): 473-486, 2021 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33600043
6.
Genetic and phenotypic spectrum associated with IFIH1 gain-of-function.
Hum Mutat;
41(4): 837-849, 2020 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31898846
7.
Expanding the molecular and clinical phenotypes of FUT8-CDG.
J Inherit Metab Dis;
43(4): 871-879, 2020 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32049367
8.
Metabolic Disorders Presenting with Seizures in the Neonatal Period.
Semin Neurol;
40(2): 219-235, 2020 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32185789
9.
PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights.
Brain;
142(3): 542-559, 2019 03 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30668673
10.
Case studies in neuroscience: a novel amino acid duplication in the NH2-terminus of the brain sodium channel NaV1.1 underlying Dravet syndrome.
J Neurophysiol;
122(5): 1975-1980, 2019 11 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31533007
11.
Endoplasmic reticulum stress inhibition limits the progression of chronic kidney disease in the Dahl salt-sensitive rat.
Am J Physiol Renal Physiol;
312(1): F230-F244, 2017 01 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28069662
12.
De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders.
Am J Hum Genet;
104(2): 357, 2019 Feb 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30735662
13.
Early Signs and Symptoms of Leukodystrophies: A Case-Based Guide.
Pediatr Rev;
42(3): 133-146, 2021 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33648992
14.
Validation and clinical discovery demonstration of breast cancer data from a real-world data extraction platform.
JAMIA Open;
7(2): ooae041, 2024 Jul.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38766645
15.
Autism gene variants disrupt enteric neuron migration and cause gastrointestinal dysmotility.
bioRxiv;
2024 May 29.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38854068
16.
A New Approach to Rare Diseases of Children: The Undiagnosed Diseases Network.
J Pediatr;
196: 291-297.e2, 2018 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29331327
17.
Expanding genotype-phenotype correlations in FOXG1 syndrome: results from a patient registry.
Orphanet J Rare Dis;
18(1): 149, 2023 06 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37308910
18.
Characterizing a rare neurogenetic disease, SLC13A5 citrate transporter disorder, utilizing clinical data in a cloud-based medical record collection system.
Front Genet;
14: 1109547, 2023.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37025451
19.
The patient-specific mouse model with Foxg1 frameshift mutation uncovers the pathophysiology of FOXG1 syndrome.
Res Sq;
2023 Jun 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37398410
20.
Delineating clinical and developmental outcomes in STXBP1-related disorders.
medRxiv;
2023 May 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37215006