Detalhe da pesquisa
1.
Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta.
Genet Med
; 25(8): 100856, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37092537
2.
Extending the phenotypes associated with TRIO gene variants in a cohort of 25 patients and review of the literature.
Am J Med Genet A
; 191(7): 1722-1740, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36987741
3.
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.
Am J Hum Genet
; 104(6): 1210-1222, 2019 06 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31079897
4.
Genome sequencing is a sensitive first-line test to diagnose individuals with intellectual disability.
Genet Med
; 24(11): 2296-2307, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36066546
5.
Outcome at age 7 of epilepsy presenting in the first 2 years of life. A population-based study.
Epilepsia
; 63(8): 2096-2107, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35652437
6.
X-linked Malformation Deafness: Neurodevelopmental Symptoms Are Common in Children With IP3 Malformation and Mutation in POU3F4.
Ear Hear
; 43(1): 53-69, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-34133399
7.
DNA Methylation Signature for JARID2-Neurodevelopmental Syndrome.
Int J Mol Sci
; 23(14)2022 Jul 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-35887345
8.
JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome.
Genet Med
; 23(2): 374-383, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33077894
9.
High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses.
J Hum Genet
; 66(10): 995-1008, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-33875766
10.
Clinical versus automated assessments of morphological variants in twins with and without neurodevelopmental disorders.
Am J Med Genet A
; 182(5): 1177-1189, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32162839
11.
Epilepsy syndromes, etiologies, and the use of next-generation sequencing in epilepsy presenting in the first 2 years of life: A population-based study.
Epilepsia
; 61(11): 2486-2499, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32964447
12.
Single cell analysis of autism patient with bi-allelic NRXN1-alpha deletion reveals skewed fate choice in neural progenitors and impaired neuronal functionality.
Exp Cell Res
; 383(1): 111469, 2019 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31302032
13.
De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations.
Am J Hum Genet
; 98(2): 373-81, 2016 Feb 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-26833328
14.
Genomic screening in rare disorders: New mutations and phenotypes, highlighting ALG14 as a novel cause of severe intellectual disability.
Clin Genet
; 94(6): 528-537, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30221345
15.
Benign paroxysmal torticollis of infancy does not lead to neurological sequelae.
Dev Med Child Neurol
; 60(12): 1251-1255, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29956301
16.
Copy Number Variation Analysis of 100 Twin Pairs Enriched for Neurodevelopmental Disorders.
Twin Res Hum Genet
; 21(1): 1-11, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29307321
17.
Whole-Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially Pathological Gene Disruptions and Highlights the Importance of Microhomology in the Mechanism of Formation.
Hum Mutat
; 38(2): 180-192, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27862604
18.
Further evidence for specific IFIH1 mutation as a cause of Singleton-Merten syndrome with phenotypic heterogeneity.
Am J Med Genet A
; 173(5): 1396-1399, 2017 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-28319323
19.
CTNND2-a candidate gene for reading problems and mild intellectual disability.
J Med Genet
; 52(2): 111-22, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25473103
20.
Copy number variations in children with brain malformations and refractory epilepsy.
Am J Med Genet A
; 167A(3): 512-23, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25691404