Detalhe da pesquisa
1.
Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways.
Cell
; 145(4): 513-28, 2011 May 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-21565611
2.
Validation of low-pass genome sequencing for prenatal diagnosis.
Prenat Diagn
; 44(4): 443-453, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38279846
3.
Monogenic conditions and central nervous system anomalies: A prospective study, systematic review and meta-analysis.
Prenat Diagn
; 44(4): 422-431, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38054560
4.
Genome screening, reporting, and genetic counseling for healthy populations.
Hum Genet
; 142(2): 181-192, 2023 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-36331656
5.
Neurodevelopmental functioning in probands and non-proband carriers of 22q11.2 microduplication.
Am J Med Genet A
; 188(10): 2999-3008, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35899837
6.
Diagnostic yield of genome sequencing for prenatal diagnosis of fetal structural anomalies.
Prenat Diagn
; 42(7): 822-830, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35089622
7.
Exome and genome sequencing in adults with undiagnosed disease: a prospective cohort study.
J Med Genet
; 58(4): 275-283, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32581083
8.
Androgenetic/Biparental Mosaic/Chimeric Conceptions With a Molar Component: A Diagnostic and Clinical Challenge.
Int J Gynecol Pathol
; 40(5): 510-517, 2021 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33075020
9.
Homozygous GLUL deletion is embryonically viable and leads to glutamine synthetase deficiency.
Clin Genet
; 98(6): 613-619, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32888207
10.
Case Report: Use of Tumor and Germline Y Chromosomal Analysis to Guide Surgical Management in a 46, XX Female Presenting With Gonadoblastoma With Dysgerminoma.
Int J Gynecol Pathol
; 36(5): 466-470, 2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-28800577
11.
Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes.
Hum Mol Genet
; 23(10): 2752-68, 2014 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24381304
12.
15q11.2 Duplication Encompassing Only the UBE3A Gene Is Associated with Developmental Delay and Neuropsychiatric Phenotypes.
Hum Mutat
; 36(7): 689-93, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25884337
13.
Mutation in NSUN2, which encodes an RNA methyltransferase, causes autosomal-recessive intellectual disability.
Am J Hum Genet
; 90(5): 856-63, 2012 May 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-22541562
14.
New recessive truncating mutation in LTBP3 in a family with oligodontia, short stature, and mitral valve prolapse.
Am J Med Genet A
; 167(6): 1396-9, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25899461
15.
Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families.
Neurogenetics
; 15(2): 117-27, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24643514
16.
Mutations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disability.
Am J Hum Genet
; 89(1): 176-82, 2011 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-21763484
17.
Genome-wide association study of bipolar disorder in Canadian and UK populations corroborates disease loci including SYNE1 and CSMD1.
BMC Med Genet
; 15: 2, 2014 Jan 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-24387768
18.
Copy number variant study of bipolar disorder in Canadian and UK populations implicates synaptic genes.
Am J Med Genet B Neuropsychiatr Genet
; 165B(4): 303-13, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24700553
19.
Broadening the ciliopathy spectrum: motile cilia dyskinesia, and nephronophthisis associated with a previously unreported homozygous mutation in the INVS/NPHP2 gene.
Am J Med Genet A
; 161A(7): 1792-6, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23713026
20.
Role of comprehensive cytogenomic investigation in successful reproductive outcome of parental small neocentromeric supernumerary ring chromosome: A case report.
Clin Case Rep
; 11(4): e6632, 2023 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-37102101