Submicroscopic chromosome imbalance in patients with developmental delay and/or dysmorphism referred specifically for Fragile X testing and karyotype analysis

por Ahn, Joo Wook, Mann, Kathy, Docherty, Zoe, Mackie Ogilvie, Caroline
Publicado 2008

Cytogenomic results following high-chance non-invasive prenatal testing: a UK national audit

por Togneri, Fiona S., Allen, Stephanie K., Mann, Kathy, Holgado, Elaine, Morgan, Sian
Publicado 2020

A novel deletion in proximal 22q associated with cardiac septal defects and microcephaly: a case report

por Ogilvie, Caroline Mackie, Ahn, Joo Wook, Mann, Kathy, Roberts, Roland G, Flinter, Frances
Publicado 2009

MLPA for confirmation of array CGH results and determination of inheritance

por Hills, Alison, Ahn, Joo Wook, Donaghue, Celia, Thomas, Helen, Mann, Kathy, Ogilvie, Caroline Mackie
Publicado 2010

Efficient and cost-effective genetic analysis of products of conception and fetal tissues using a QF-PCR/array CGH strategy; five years of data

por Donaghue, Celia, Davies, Nada, Ahn, Joo Wook, Thomas, Helen, Ogilvie, Caroline Mackie, Mann, Kathy
Publicado 2017

Array CGH as a first line diagnostic test in place of karyotyping for postnatal referrals - results from four years’ clinical application for over 8,700 patients

por Ahn, Joo Wook, Bint, Susan, Bergbaum, Anne, Mann, Kathy, Hall, Richard P, Ogilvie, Caroline Mackie
Publicado 2013

Detection of subtelomere imbalance using MLPA: validation, development of an analysis protocol, and application in a diagnostic centre

por Ahn, Joo Wook, Mackie Ogilvie, Caroline, Welch, Alysia, Thomas, Helen, Madula, Rajiv, Hills, Alison, Donaghue, Celia, Mann, Kathy
Publicado 2007

Validation and implementation of array comparative genomic hybridisation as a first line test in place of postnatal karyotyping for genome imbalance

por Ahn, Joo Wook, Mann, Kathy, Walsh, Sally, Shehab, Marwa, Hoang, Sarah, Docherty, Zoe, Mohammed, Shehla, Mackie Ogilvie, Caroline
Publicado 2010

European guidelines for constitutional cytogenomic analysis

por Silva, Marisa, de Leeuw, Nicole, Mann, Kathy, Schuring-Blom, Heleen, Morgan, Sian, Giardino, Daniela, Rack, Katrina, Hastings, Ros
Publicado 2018

Recommended practice for laboratory reporting of non‐invasive prenatal testing of trisomies 13, 18 and 21: a consensus opinion

por Deans, Zandra C., Allen, Stephanie, Jenkins, Lucy, Khawaja, Farrah, Hastings, Ros J., Mann, Kathy, Patton, Simon J., Sistermans, Erik A., Chitty, Lyn S.
Publicado 2017