Detalhe da pesquisa
1.
Two novel cases of biallelic SMPD4 variants with brain structural abnormalities.
Neurogenetics
; 25(1): 3-11, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37882972
2.
Novel compound heterozygous ATP1A2 variants in a patient with fetal akinesia/hypokinesia sequence.
Am J Med Genet A
; 194(3): e63453, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-37870493
3.
Identification of pathogenic deep intronic variant and exonic LINE-1 insertion in a patient with Meckel syndrome.
Ann Hum Genet
; 87(4): 196-202, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36970932
4.
De Novo Truncating Variants in the Last Exon of SEMA6B Cause Progressive Myoclonic Epilepsy.
Am J Hum Genet
; 106(4): 549-558, 2020 04 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32169168
5.
De novo CLCN3 variants affecting Gly327 cause severe neurodevelopmental syndrome with brain structural abnormalities.
J Hum Genet
; 68(4): 291-298, 2023 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-36536096
6.
A novel de novo KCNB1 variant altering channel characteristics in a patient with periventricular heterotopia, abnormal corpus callosum, and mild seizure outcome.
J Hum Genet
; 68(1): 25-31, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36257979
7.
A deep intronic TCTN2 variant activating a cryptic exon predicted by SpliceRover in a patient with Joubert syndrome.
J Hum Genet
; 68(7): 499-505, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-36894704
8.
An intronic GNAO1 variant leading to in-frame insertion cause movement disorder controlled by deep brain stimulation.
Neurogenetics
; 23(2): 129-135, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35147852
9.
Genome sequencing and RNA sequencing of urinary cells reveal an intronic FBN1 variant causing aberrant splicing.
J Hum Genet
; 67(7): 387-392, 2022 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-35067677
10.
Retrotransposition disrupting EBP in a girl and her mother with X-linked dominant chondrodysplasia punctata.
J Hum Genet
; 67(5): 303-306, 2022 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-34999728
11.
De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathy.
Hum Mutat
; 42(1): 66-76, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33131106
12.
MYRF haploinsufficiency causes 46,XY and 46,XX disorders of sex development: bioinformatics consideration.
Hum Mol Genet
; 28(14): 2319-2329, 2019 07 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30985895
13.
Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy.
Hum Genet
; 140(7): 1109-1120, 2021 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-33944996
14.
Biallelic Variants in CNPY3, Encoding an Endoplasmic Reticulum Chaperone, Cause Early-Onset Epileptic Encephalopathy.
Am J Hum Genet
; 102(2): 321-329, 2018 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29394991
15.
Identification of two novel de novo TUBB variants in cases with brain malformations: case reports and literature review.
J Hum Genet
; 66(12): 1193-1197, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34211110
16.
Global developmental delay, systemic dysmorphism and epilepsy in a patient with a de novo U2AF2 variant.
J Hum Genet
; 66(12): 1185-1187, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34112922
17.
A boy with biallelic frameshift variants in TTC5 and brain malformation resembling tubulinopathies.
J Hum Genet
; 66(12): 1189-1192, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34168248
18.
Comprehensive genetic analysis confers high diagnostic yield in 16 Japanese patients with corpus callosum anomalies.
J Hum Genet
; 66(11): 1061-1068, 2021 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-33958710
19.
Genetic and phenotypic analysis of 101 patients with developmental delay or intellectual disability using whole-exome sequencing.
Clin Genet
; 100(1): 40-50, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33644862
20.
Loss-of-function and gain-of-function mutations in PPP3CA cause two distinct disorders.
Hum Mol Genet
; 27(8): 1421-1433, 2018 04 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29432562