Detalhe da pesquisa
1.
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.
Am J Hum Genet
; 111(1): 96-118, 2024 Jan 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38181735
2.
HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder.
Am J Hum Genet
; 110(8): 1414-1435, 2023 08 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37541189
3.
Biallelic BORCS8 variants cause an infantile-onset neurodegenerative disorder with altered lysosome dynamics.
Brain
; 147(5): 1751-1767, 2024 May 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38128568
4.
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.
Am J Hum Genet
; 108(3): 502-516, 2021 03 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33596411
5.
Cation leak through the ATP1A3 pump causes spasticity and intellectual disability.
Brain
; 146(8): 3162-3171, 2023 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37043503
6.
BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms.
Am J Hum Genet
; 107(6): 1096-1112, 2020 12 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33232675
7.
Insurance denials and diagnostic rates in a pediatric genomic research cohort.
Genet Med
; 25(5): 100020, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36718845
8.
Recurrent FOXP4 nonsense variant in two unrelated patients: Association with neurodevelopmental disease and congenital diaphragmatic hernia.
Am J Med Genet A
; 191(1): 259-264, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36301021
9.
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.
Am J Hum Genet
; 111(4): 805, 2024 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38508193
10.
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.
Am J Hum Genet
; 2024 May 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38723631
11.
Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency.
Genet Med
; 24(3): 631-644, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906488
12.
TAB2 variants cause cardiovascular heart disease, connective tissue disorder, and developmental delay.
Clin Genet
; 101(2): 214-220, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34741306
13.
Phenotypic expansion and variable expressivity in individuals with JARID2-related intellectual disability: A case series.
Clin Genet
; 102(2): 136-141, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35533077
14.
Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome.
Mol Psychiatry
; 26(6): 2013-2024, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32346159
15.
Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin.
Am J Med Genet A
; 188(1): 272-282, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34515416
16.
Diagnostic outcomes from a combined Pediatric Dermatology-Genetics clinic.
Pediatr Dermatol
; 39(4): 587-589, 2022 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-35613693
17.
Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot.
Genet Med
; 23(10): 1952-1960, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34113005
18.
Correction to: Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot.
Genet Med
; 23(10): 2013, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34522030
19.
Rare variants in PPFIA3 cause delayed development, intellectual disability, autism, and epilepsy.
medRxiv
; 2023 Mar 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-37034625
20.
Composite Sleep Problems Observed Across Smith-Magenis Syndrome, MBD5-Associated Neurodevelopmental Disorder, Pitt-Hopkins Syndrome, and ASD.
J Autism Dev Disord
; 51(6): 1852-1865, 2021 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-32845423