Detalhe da pesquisa
1.
Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease.
Am J Hum Genet
; 111(5): 863-876, 2024 May 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38565148
2.
Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders.
Am J Hum Genet
; 108(8): 1450-1465, 2021 08 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34186028
3.
Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities.
Am J Hum Genet
; 108(5): 951-961, 2021 05 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33894126
4.
Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder.
Am J Hum Genet
; 108(6): 1069-1082, 2021 06 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34022130
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.
Newborn screening for neurodevelopmental diseases: Are we there yet?
Am J Med Genet C Semin Med Genet
; 190(2): 222-230, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35838066
7.
De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects.
Am J Hum Genet
; 105(4): 854-868, 2019 10 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31585109
8.
Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling.
Genet Med
; 24(10): 2065-2078, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35980381
9.
Major brain malformations: corpus callosum dysgenesis, agenesis of septum pellucidum and polymicrogyria in patients with BCORL1-related disorders.
J Hum Genet
; 67(2): 95-101, 2022 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-34400773
10.
Whole-exome sequencing with targeted analysis and epilepsy after acute symptomatic neonatal seizures.
Pediatr Res
; 91(4): 896-902, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33846556
11.
NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly.
Am J Hum Genet
; 103(5): 752-768, 2018 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30388402
12.
De novo variants in SUPT16H cause neurodevelopmental disorders associated with corpus callosum abnormalities.
J Med Genet
; 57(7): 461-465, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31924697
13.
Sensorimotor Cortical Oscillations during Movement Preparation in 16p11.2 Deletion Carriers.
J Neurosci
; 39(37): 7321-7331, 2019 09 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31270155
14.
Overcoming presynaptic effects of VAMP2 mutations with 4-aminopyridine treatment.
Hum Mutat
; 41(11): 1999-2011, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32906212
15.
Altered structural connectivity networks in a mouse model of complete and partial dysgenesis of the corpus callosum.
Neuroimage
; 217: 116868, 2020 08 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-32360691
16.
Vasopressin deficiency: a hypothesized driver of both social impairment and fluid imbalance in autism spectrum disorder.
Mol Psychiatry
; 2024 Mar 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38454082
17.
De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions.
Am J Hum Genet
; 98(5): 963-970, 2016 May 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27087320
18.
Cerebrospinal fluid vasopressin and symptom severity in children with autism.
Ann Neurol
; 84(4): 611-615, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30152888
19.
De novo mutations in epileptic encephalopathies.
Nature
; 501(7466): 217-21, 2013 Sep 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-23934111
20.
DCC mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome.
Hum Mutat
; 39(1): 23-39, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29068161