Detalhe da pesquisa
1.
Identification and functional evaluation of GRIA1 missense and truncation variants in individuals with ID: An emerging neurodevelopmental syndrome.
Am J Hum Genet
; 109(7): 1217-1241, 2022 07 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35675825
2.
ADGRL1 haploinsufficiency causes a variable spectrum of neurodevelopmental disorders in humans and alters synaptic activity and behavior in a mouse model.
Am J Hum Genet
; 109(8): 1436-1457, 2022 08 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35907405
3.
CNV-ClinViewer: enhancing the clinical interpretation of large copy-number variants online.
Bioinformatics
; 39(5)2023 05 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37104749
4.
Natural history of adults with KBG syndrome: a physician-reported experience.
Genet Med
; : 101170, 2024 May 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-38818797
5.
KCNT2-Related Disorders: Phenotypes, Functional, and Pharmacological Properties.
Ann Neurol
; 94(2): 332-349, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37062836
6.
Growth charts in DYRK1A syndrome.
Am J Med Genet A
; 194(1): 9-16, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37740550
7.
Clinical and molecular characterization of patients with YWHAG-related epilepsy.
Epilepsia
; 65(5): 1439-1450, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38491959
8.
Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes.
Brain
; 2023 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38038360
9.
X-linked variations in SHROOM4 are implicated in congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems.
J Med Genet
; 60(6): 587-596, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36379543
10.
X-linked neonatal-onset epileptic encephalopathy associated with a gain-of-function variant p.R660T in GRIA3.
PLoS Genet
; 17(6): e1009608, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-34161333
11.
A new neurodevelopmental disorder linked to heterozygous variants in UNC79.
Genet Med
; 25(9): 100894, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37183800
12.
Clustered variants in the 5' coding region of TRA2B cause a distinctive neurodevelopmental syndrome.
Genet Med
; 25(4): 100003, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36549593
13.
Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype-phenotype correlation study.
Genet Med
; 25(1): 37-48, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36322149
14.
Expansion of the phenotypic and molecular spectrum of CWF19L1-related disorder.
Clin Genet
; 103(5): 566-573, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36453471
15.
GPI-anchoring disorders and the heart: Is cardiomyopathy an overlooked feature?
Clin Genet
; 104(5): 598-603, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37489290
16.
POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrum.
Clin Genet
; 104(2): 186-197, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37165752
17.
Dysfunction of AMPA receptor GluA3 is associated with aggressive behavior in human.
Mol Psychiatry
; 27(10): 4092-4102, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35697757
18.
Solving the unsolved genetic epilepsies: Current and future perspectives.
Epilepsia
; 64(12): 3143-3154, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37750451
19.
Perampanel as precision therapy in rare genetic epilepsies.
Epilepsia
; 64(4): 866-874, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36734057
20.
Phenylketonuria (PKU) Urinary Metabolomic Phenotype Is Defined by Genotype and Metabolite Imbalance: Results in 51 Early Treated Patients Using Ex Vivo 1H-NMR Analysis.
Molecules
; 28(13)2023 Jun 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-37446577