Detalhe da pesquisa
1.
Gain of function due to increased opening probability by two KCNQ5 pore variants causing developmental and epileptic encephalopathy.
Proc Natl Acad Sci U S A
; 119(15): e2116887119, 2022 04 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35377796
2.
NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism.
Am J Hum Genet
; 107(5): 963-976, 2020 11 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33157009
3.
GRIN1 variants associated with neurodevelopmental disorders reveal channel gating pathomechanisms.
Epilepsia
; 64(12): 3377-3388, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37734923
4.
Targeted next-generation sequencing in a large series of fetuses with severe renal diseases.
Hum Mutat
; 43(3): 347-361, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35005812
5.
DNASE1L3 deficiency, new phenotypes, and evidence for a transient type I IFN signaling.
J Clin Immunol
; 42(6): 1310-1320, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35670985
6.
Progressive Myoclonus Epilepsy Caused by a Homozygous Splicing Variant of SLC7A6OS.
Ann Neurol
; 89(2): 402-407, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33085104
7.
Complete characterisation of two new large Xq28 duplications involving F8 using whole genome sequencing in patients without haemophilia A.
Haemophilia
; 28(1): 117-124, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34480810
8.
Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior.
Genet Med
; 23(6): 1028-1040, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33658631
9.
Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy.
Brain
; 143(5): 1447-1461, 2020 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32282878
10.
Mandibular-pelvic-patellar syndrome is a novel PITX1-related disorder due to alteration of PITX1 transactivation ability.
Hum Mutat
; 41(9): 1499-1506, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32598510
11.
A Case of Trisomy 13 Mosaicism Presenting with a Severe Aortic Root Dilatation and Marfanoid Habitus due to an Unpredictable Cytogenetic Mechanism.
Cytogenet Genome Res
; 160(2): 72-79, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32187601
12.
Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7.
Genet Med
; 22(7): 1215-1226, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32376980
13.
Chromatin remodeling dysfunction extends the etiological spectrum of schizophrenia: a case report.
BMC Med Genet
; 21(1): 10, 2020 01 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31914951
14.
Gabapentin treatment in a patient with KCNQ2 developmental epileptic encephalopathy.
Pharmacol Res
; 160: 105200, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32942014
15.
A novel lethal recognizable polymicrogyric syndrome caused by ATP1A2 homozygous truncating variants.
Brain
; 142(11): 3367-3374, 2019 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31608932
16.
Identification of mobile retrocopies during genetic testing: Consequences for routine diagnosis.
Hum Mutat
; 40(11): 1993-2000, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31230393
17.
Molecular Characterization of a Familial 13.6-Mb 20p11.1p12.1 Duplication without Clinical Consequence.
Cytogenet Genome Res
; 157(3): 141-147, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30947196
18.
The epilepsy phenotypic spectrum associated with a recurrent CUX2 variant.
Ann Neurol
; 83(5): 926-934, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29630738
19.
A novel disorder of sex development, characterized by progressive regression of testicular function and cystic leukoencephalopathy.
Am J Med Genet A
; 173(3): 654-660, 2017 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-28160395
20.
Clinical and molecular cytogenetic characterization of four unrelated patients carrying 2p14 microdeletions.
Am J Med Genet A
; 173(8): 2268-2274, 2017 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-28599093