Detalhe da pesquisa
1.
A case of mosaic deletion of paternally-inherited PLAGL1 and two cases of upd(6)mat add to evidence for PLAGL1 under-expression as a cause of growth restriction.
Am J Med Genet A
; 194(2): 383-388, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37850521
2.
Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data.
Am J Med Genet A
; 188(10): 2958-2968, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35904974
3.
The Diagnostic Yield of Prenatal Genetic Technologies in Congenital Heart Disease: A Prospective Cohort Study.
Fetal Diagn Ther
; : 1-8, 2021 Feb 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33550297
4.
Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study.
Lancet
; 393(10173): 747-757, 2019 02 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-30712880
5.
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
6.
Exome Sequencing for Prenatal Detection of Genetic Abnormalities in Fetal Ultrasound Anomalies: An Economic Evaluation.
Fetal Diagn Ther
; 47(7): 554-564, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-31962312
7.
New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies.
Hum Genet
; 138(8-9): 1027-1042, 2019 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-29464339
8.
Molecular autopsy by trio exome sequencing (ES) and postmortem examination in fetuses and neonates with prenatally identified structural anomalies.
Genet Med
; 21(5): 1065-1073, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30293990
9.
Prenatal chromosomal microarray testing of fetuses with ultrasound structural anomalies: A prospective cohort study of over 1000 consecutive cases.
Prenat Diagn
; 39(12): 1064-1069, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31393021
10.
CNVs affecting cancer predisposing genes (CPGs) detected as incidental findings in routine germline diagnostic chromosomal microarray (CMA) testing.
J Med Genet
; 55(2): 89-96, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28918392
11.
Exome sequencing improves genetic diagnosis of structural fetal abnormalities revealed by ultrasound.
Hum Mol Genet
; 23(12): 3269-77, 2014 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24476948
12.
Prenatal whole exome sequencing: the views of clinicians, scientists, genetic counsellors and patient representatives.
Prenat Diagn
; 36(10): 935-941, 2016 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-27550507
13.
Axenfeld-Rieger syndrome: further clinical and array delineation of four unrelated patients with a 4q25 microdeletion.
Am J Med Genet A
; 164A(7): 1695-701, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24715413
14.
BAC chromosomal microarray for prenatal detection of chromosome anomalies in fetal ultrasound anomalies: an economic evaluation.
Fetal Diagn Ther
; 36(1): 49-58, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24943865
15.
The introduction of arrays in prenatal diagnosis: a special challenge.
Hum Mutat
; 33(6): 923-9, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22508381
16.
17q12 microdeletion syndrome: three patients illustrating the phenotypic spectrum.
Am J Med Genet A
; 158A(9): 2317-21, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-22887843
17.
Copy number profiling in von Hippel-Lindau disease renal cell carcinoma.
Genes Chromosomes Cancer
; 50(7): 479-88, 2011 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-21456047
18.
Prenatal central nervous system anomaly with skeletal dysplasia associated with a de novo interstitial tandem triplication of chromosome 14.
J Obstet Gynaecol
; 37(3): 375-376, 2017 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-28029058
19.
Optimising Exome Prenatal Sequencing Services (EXPRESS): a study protocol to evaluate rapid prenatal exome sequencing in the NHS Genomic Medicine Service.
NIHR Open Res
; 2: 10, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35935673
20.
Design and validation of a metabolic disorder resequencing microarray (BRUM1).
Hum Mutat
; 31(7): 858-65, 2010 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-20578233