Detalhe da pesquisa
1.
Automated reanalysis application to assist in detecting novel gene-disease associations after genome sequencing.
Genet Med
; 24(4): 811-820, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34949530
2.
A novel non-invasive prenatal sickle cell disease test for all at-risk pregnancies.
Br J Haematol
; 190(1): 119-124, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32097993
3.
Structural Aberrations with Secondary Implications (SASIs): consensus recommendations for reporting of cancer susceptibility genes identified during analysis of Copy Number Variants (CNVs).
J Med Genet
; 56(11): 718-726, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31018999
4.
Parental Origin of Interstitial Duplications at 15q11.2-q13.3 in Schizophrenia and Neurodevelopmental Disorders.
PLoS Genet
; 12(5): e1005993, 2016 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27153221
5.
Ulk4 Regulates Neural Stem Cell Pool.
Stem Cells
; 34(9): 2318-31, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27300315
6.
Microduplications at the pseudoautosomal SHOX locus in autism spectrum disorders and related neurodevelopmental conditions.
J Med Genet
; 53(8): 536-47, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27073233
7.
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
8.
Gestation related karyotype, QF-PCR and CGH-array failure rates in diagnostic amniocentesis.
Prenat Diagn
; 36(8): 708-13, 2016 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-27192044
9.
Microdeletions of ELP4 Are Associated with Language Impairment, Autism Spectrum Disorder, and Mental Retardation.
Hum Mutat
; 36(9): 842-50, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26010655
10.
Rare deletions at the neurexin 3 locus in autism spectrum disorder.
Am J Hum Genet
; 90(1): 133-41, 2012 Jan 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-22209245
11.
Phenotypic features in patients with 15q11.2(BP1-BP2) deletion: further delineation of an emerging syndrome.
Am J Med Genet A
; 164A(8): 1916-22, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24715682
12.
Unexpected findings in cancer predisposition genes detected by array comparative genomic hybridisation: what are the issues?
J Med Genet
; 48(8): 535-9, 2011 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-21429933
13.
Recommendations for reporting results of diagnostic genomic testing.
Eur J Hum Genet
; 30(9): 1011-1016, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35361922
14.
Recommendations for clinical interpretation of variants found in non-coding regions of the genome.
Genome Med
; 14(1): 73, 2022 07 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-35850704
15.
Automated reanalysis, a novel way to diagnose an ultra-rare condition: Fibronectin-1-related spondylometaphyseal dysplasia (SMD-FN1).
Clin Dysmorphol
; 30(3): 154-158, 2021 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33605604
16.
A hemizygous mutation in the FOXP3 gene (IPEX syndrome) resulting in recurrent X-linked fetal hydrops: a case report.
BMC Med Genomics
; 14(1): 58, 2021 02 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-33637067
17.
Rare CNVs provide novel insights into the molecular basis of GH and IGF-1 insensitivity.
Eur J Endocrinol
; 183(6): 581-595, 2020 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-33055295
18.
Duplication of 10q24 locus: broadening the clinical and radiological spectrum.
Eur J Hum Genet
; 27(4): 525-534, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30622331
19.
Detection of subtelomere imbalance using MLPA: validation, development of an analysis protocol, and application in a diagnostic centre.
BMC Med Genet
; 8: 9, 2007 Mar 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-17338807
20.
Efficient and cost-effective genetic analysis of products of conception and fetal tissues using a QF-PCR/array CGH strategy; five years of data.
Mol Cytogenet
; 10: 12, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28396697