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23 results for Ahn,+Joo+Wook

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ArticlesPeer ReviewedFull Text
Recommendations for clinical interpretation of variants found in non-coding regions of the genome
Author / Creator:Ellingford, Jamie M. ; Ahn, Joo Wook ; Bagnall, Richard D. ; Baralle, Diana ; Barton, Stephanie ; Campbell, Chris ; Downes, Kate ; Ellard, Sian ; Duff-Farrier, Celia ; FitzPatrick, David R. ; Greally, John M. ; Ingles, Jodie ; Krishnan, Neesha ; Lord, Jenny ; Martin, Hilary C. ; Newman, William G. ; O’Donnell-Luria, Anne ; Ramsden, Simon C. ; Rehm, Heidi L. ; Richardson, Ebony ; Singer-Berk, Moriel ; Taylor, Jenny C. ; Williams, Maggie ; Wood, Jordan C. ; Wright, Caroline F. ; Harrison, Steven M. ; Whiffin, Nicola
Publisher:England: BioMed Central Ltd
Journal title:Genome medicine, 2022-07, Vol.14 (1), p.73-19, Article 73
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Male-Biased Autosomal Effect of 16p13.11 Copy Number Variation in Neurodevelopmental Disorders
Author / Creator:Tropeano, Maria ; Ahn, Joo Wook ; Dobson, Richard J. B. ; Breen, Gerome ; Rucker, James ; Dixit, Abhishek ; Pal, Deb K. ; McGuffin, Peter ; Farmer, Anne ; White, Peter S. ; Andrieux, Joris ; Vassos, Evangelos ; Ogilvie, Caroline Mackie ; Curran, Sarah ; Collier, David A
Publisher:United States: Public Library of Science
Journal title:PloS one, 2013-04, Vol.8 (4), p.e61365
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A hemizygous mutation in the FOXP3 gene (IPEX syndrome) resulting in recurrent X-linked fetal hydrops: a case report
Author / Creator:Shangaris, Panicos ; Ho, Alison ; Marnerides, Andreas ; George, Simi ; AlAdnani, Mudher ; Yau, Shu ; Jansson, Mattias ; Hoyle, Jacqueline ; Ahn, Joo Wook ; Ellard, Sian ; Irving, Melita ; Wellesley, Diana ; Pasupathy, Dharmintra ; Holder-Espinasse, Muriel
Publisher:England: BioMed Central Ltd
Journal title:BMC medical genomics, 2021-02, Vol.14 (1), p.58-5, Article 58
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Efficient and cost-effective genetic analysis of products of conception and fetal tissues using a QF-PCR/array CGH strategy; five years of data
Author / Creator:Donaghue, Celia ; Davies, Nada ; Ahn, Joo Wook ; Thomas, Helen ; Ogilvie, Caroline Mackie ; Mann, Kathy
Publisher:England: BioMed Central
Journal title:Molecular cytogenetics, 2017-04, Vol.10 (1), p.12-12, Article 12
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Unexpected findings in cancer predisposition genes detected by array comparative genomic hybridisation: what are the issues?
Author / Creator:Pichert, Gabriella ; Mohammed, Shehla Nilofer ; Ahn, Joo Wook ; Ogilvie, Caroline Mackie ; Izatt, Louise
Publisher:London: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2011-08, Vol.48 (8), p.535-539
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ArticlesPeer ReviewedFull Text
Validation and implementation of array comparative genomic hybridisation as a first line test in place of postnatal karyotyping for genome imbalance
Author / Creator:Ahn, Joo Wook ; Mann, Kathy ; Walsh, Sally ; Shehab, Marwa ; Hoang, Sarah ; Docherty, Zoe ; Mohammed, Shehla ; Mackie Ogilvie, Caroline
Publisher:England: BioMed Central Ltd
Journal title:Molecular cytogenetics, 2010-04, Vol.3 (1), p.9-9, Article 9
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ArticlesPeer ReviewedFull Text
A new direction for prenatal chromosome microarray testing: software-targeting for detection of clinically significant chromosome imbalance without equivocal findings
Author / Creator:Ahn, Joo Wook ; Bint, Susan ; Irving, Melita D. ; Kyle, Phillipa M. ; Akolekar, Ranjit ; Mohammed, Shehla N. ; Mackie Ogilvie, Caroline
Publisher:United States: PeerJ. Ltd
Journal title:PeerJ (San Francisco, CA), 2014-04, Vol.2, p.e354-e354
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Detection of subtelomere imbalance using MLPA: validation, development of an analysis protocol, and application in a diagnostic centre
Author / Creator:Ahn, Joo Wook ; Mackie Ogilvie, Caroline ; Welch, Alysia ; Thomas, Helen ; Madula, Rajiv ; Hills, Alison ; Donaghue, Celia ; Mann, Kathy
Publisher:England: BioMed Central Ltd
Journal title:BMC medical genetics, 2007-03, Vol.8 (1), p.9-9, Article 9
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Submicroscopic chromosome imbalance in patients with developmental delay and/or dysmorphism referred specifically for Fragile X testing and karyotype analysis
Author / Creator:Ahn, Joo Wook ; Mann, Kathy ; Docherty, Zoe ; Mackie Ogilvie, Caroline
Publisher:England: BioMed Central Ltd
Journal title:Molecular cytogenetics, 2008-03, Vol.1 (1), p.2-2
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Recommendations for reporting results of diagnostic genomic testing
Author / Creator:Deans, Zandra C. ; Ahn, Joo Wook ; Carreira, Isabel M. ; Dequeker, Elisabeth ; Henderson, Mick ; Lovrecic, Luca ; Õunap, Katrin ; Tabiner, Melody ; Treacy, Rebecca ; van Asperen, Christi J.
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2022-09, Vol.30 (9), p.1011-1016
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Structural Aberrations with Secondary Implications (SASIs): consensus recommendations for reporting of cancer susceptibility genes identified during analysis of Copy Number Variants (CNVs)
Author / Creator:Talukdar, Sabrina ; Hawkes, Lara ; Hanson, Helen ; Kulkarni, Anjana ; Brady, Angela F ; McMullan, Dominic J ; Ahn, Joo Wook ; Woodward, Emma ; Turnbull, Clare
Publisher:England: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2019-11, Vol.56 (11), p.718-726
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Rare disease genomic testing in the UK and Ireland: promoting timely and equitable access
Author / Creator:Ellard, Sian ; Morgan, Sian ; Wynn, Sarah L ; Walker, Susan ; Parrish, Andrew ; Mein, Rachael ; Juett, Ana ; Ahn, Joo Wook ; Berry, Ian ; Cassidy, Emma-Jane ; Durkie, Miranda ; Fish, Louise ; Hall, Richard ; Howard, Emma ; Rankin, Julia ; Wright, Caroline F ; Deans, Zandra C ; Scott, Richard H ; Hill, Sue L ; Baple, Emma L ; Taylor, Robert W ; Baty, David ; Berg, Jonathan ; Blair, Edward ; Bowdin, Sarah ; Bownass, Lucy ; Bradley, Therese ; Campbell, Jennifer ; Charlton, Ruth ; Clouston, Penny ; Constantinou, Panayiotis ; Cooper, Nicola ; Delon, Isabelle ; Downes, Kate ; Ellis, David ; Elmslie, Frances ; Ghali, Neeti ; Hagan, Richard ; Heggarty, Shirley ; Higgs, Jennifer ; Hunt, David ; Jenkins, Lucy ; McAnulty, Ciaron ; McCann, Emma ; McDevitt, Trudi ; McMullan, Dominic ; Miedzybrodzka, Zosia ; Moore, David ; Newman, William ; O’Sullivan, Dawn ; Parker, Michael ; Porteous, Mary ; Ramsden, Simon ; Rea, Gillian ; Ruddy, Deborah ; Ryan, Gavin ; Sarkar, Ajoy ; Sheridan, Eamonn ; Short, John ; Thomas, Ellen ; Thomas, Simon ; Varghese, Vinod ; Vasudevan, Pradeep ; Wakeling, Emma ; Williams, Angharad ; Wright, Michael
Publisher:England: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2024-11, Vol.61 (12), p.1103-1112
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ArticlesPeer ReviewedFull Text
Parental Origin of Interstitial Duplications at 15q11.2-q13.3 in Schizophrenia and Neurodevelopmental Disorders
Author / Creator:Isles, Anthony R. ; Ingason, Andrés ; Lowther, Chelsea ; Walters, James ; Gawlick, Micha ; Stöber, Gerald ; Rees, Elliott ; Martin, Joanna ; Little, Rosie B. ; Potter, Harry ; Georgieva, Lyudmila ; Pizzo, Lucilla ; Ozaki, Norio ; Aleksic, Branko ; Kushima, Itaru ; Ikeda, Masashi ; Iwata, Nakao ; Levinson, Douglas F. ; Gejman, Pablo V. ; Shi, Jianxin ; Sanders, Alan R. ; Duan, Jubao ; Willis, Joseph ; Sisodiya, Sanjay ; Costain, Gregory ; Werge, Thomas M. ; Degenhardt, Franziska ; Giegling, Ina ; Rujescu, Dan ; Hreidarsson, Stefan J. ; Saemundsen, Evald ; Ahn, Joo Wook ; Ogilvie, Caroline ; Girirajan, Santhosh D. ; Stefansson, Hreinn ; Stefansson, Kari ; O’Donovan, Michael C. ; Owen, Michael J. ; Bassett, Anne ; Kirov, George
Publisher:United States: Public Library of Science
Journal title:PLoS genetics, 2016-05, Vol.12 (5), p.e1005993
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Practice guidelines for development and validation of software, with particular focus on bioinformatics pipelines for processing NGS data in clinical diagnostic laboratories
Author / Creator:Whiffin, Nicola ; Brugger, Kim ; Ahn, Joo Wook
Publisher:San Diego: PeerJ, Inc
Journal title:PeerJ preprints, 2017-05
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Duplication of 10q24 locus: broadening the clinical and radiological spectrum
Author / Creator:Holder-Espinasse, Muriel ; Jamsheer, Aleksander ; Escande, Fabienne ; Andrieux, Joris ; Petit, Florence ; Sowinska-Seidler, Anna ; Socha, Magdalena ; Jakubiuk-Tomaszuk, Anna ; Gerard, Marion ; Mathieu-Dramard, Michèle ; Cormier-Daire, Valérie ; Verloes, Alain ; Toutain, Annick ; Plessis, Ghislaine ; Jonveaux, Philippe ; Baumann, Clarisse ; David, Albert ; Farra, Chantal ; Colin, Estelle ; Jacquemont, Sébastien ; Rossi, Annick ; Mansour, Sahar ; Ghali, Neeti ; Moncla, Anne ; Lahiri, Nayana ; Hurst, Jane ; Pollina, Elena ; Patch, Christine ; Ahn, Joo Wook ; Valat, Anne-Sylvie ; Mezel, Aurélie ; Bourgeot, Philippe ; Zhang, David ; Manouvrier-Hanu, Sylvie
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2019-04, Vol.27 (4), p.525-534
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Microduplications at the pseudoautosomal SHOX locus in autism spectrum disorders and related neurodevelopmental conditions
Author / Creator:Tropeano, Maria ; Howley, Deirdre ; Gazzellone, Matthew J ; Wilson, C Ellie ; Ahn, Joo Wook ; Stavropoulos, Dimitri J ; Murphy, Clodagh M ; Eis, Peggy S ; Hatchwell, Eli ; Dobson, Richard J B ; Robertson, Dene ; Holder, Muriel ; Irving, Melita ; Josifova, Dragana ; Nehammer, Annelise ; Ryten, Mina ; Spain, Debbie ; Pitts, Mark ; Bramham, Jessica ; Asherson, Philip ; Curran, Sarah ; Vassos, Evangelos ; Breen, Gerome ; Flinter, Frances ; Ogilvie, Caroline Mackie ; Collier, David A ; Scherer, Stephen W ; McAlonan, Grainne M ; Murphy, Declan G
Publisher:England
Journal title:Journal of medical genetics, 2016-08, Vol.53 (8), p.536-547
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ArticlesPeer ReviewedFull Text
A hemizygous mutation in the FOXP3 gene
Author / Creator:Shangaris, Panicos ; Ho, Alison ; Marnerides, Andreas ; George, Simi ; AlAdnani, Mudher ; Yau, Shu ; Jansson, Mattias ; Hoyle, Jacqueline ; Ahn, Joo Wook ; Ellard, Sian ; Irving, Melita ; Wellesley, Diana ; Pasupathy, Dharmintra ; Holder-Espinasse, Muriel
Publisher:BioMed Central Ltd
Journal title:BMC medical genomics, 2021-02, Vol.14 (1)
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ArticlesPeer ReviewedFull Text
CHD2 haploinsufficiency is associated with developmental delay, intellectual disability, epilepsy and neurobehavioural problems
Author / Creator:Chénier, Sébastien ; Yoon, Grace ; Argiropoulos, Bob ; Lauzon, Julie ; Laframboise, Rachel ; Ahn, Joo Wook ; Ogilvie, Caroline Mackie ; Lionel, Anath C ; Marshall, Christian R ; Vaags, Andrea K ; Hashemi, Bita ; Boisvert, Karine ; Mathonnet, Géraldine ; Tihy, Frédérique ; So, Joyce ; Scherer, Stephen W ; Lemyre, Emmanuelle ; Stavropoulos, Dimitri J
Publisher:England: BioMed Central Ltd
Journal title:Journal of neurodevelopmental disorders, 2014-04, Vol.6 (1), p.9-9, Article 9
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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
Author / Creator:Ahn, Joo Wook ; Bint, Susan ; Bergbaum, Anne ; Mann, Kathy ; Hall, Richard P ; Ogilvie, Caroline Mackie
Publisher:England: BioMed Central Ltd
Journal title:Molecular cytogenetics, 2013-04, Vol.6 (1), p.16-16
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MLPA for confirmation of array CGH results and determination of inheritance
Author / Creator:Hills, Alison ; Ahn, Joo ; Donaghue, Celia ; Thomas, Helen ; Mann, Kathy ; Ogilvie, Caroline
Publisher:England: BioMed Central Ltd
Journal title:Molecular cytogenetics, 2010-10, Vol.3 (1), p.19-19
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Showing 1 to 20 of 23 results

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Recommendations for clinical interpretation of variants found in non-coding regions of the genome

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Male-Biased Autosomal Effect of 16p13.11 Copy Number Variation in Neurodevelopmental Disorders

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A hemizygous mutation in the FOXP3 gene (IPEX syndrome) resulting in recurrent X-linked fetal hydrops: a case report

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

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Unexpected findings in cancer predisposition genes detected by array comparative genomic hybridisation: what are the issues?

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

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A new direction for prenatal chromosome microarray testing: software-targeting for detection of clinically significant chromosome imbalance without equivocal findings

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

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

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Recommendations for reporting results of diagnostic genomic testing

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Structural Aberrations with Secondary Implications (SASIs): consensus recommendations for reporting of cancer susceptibility genes identified during analysis of Copy Number Variants (CNVs)

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Rare disease genomic testing in the UK and Ireland: promoting timely and equitable access

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Parental Origin of Interstitial Duplications at 15q11.2-q13.3 in Schizophrenia and Neurodevelopmental Disorders

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Practice guidelines for development and validation of software, with particular focus on bioinformatics pipelines for processing NGS data in clinical diagnostic laboratories

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Duplication of 10q24 locus: broadening the clinical and radiological spectrum

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Microduplications at the pseudoautosomal SHOX locus in autism spectrum disorders and related neurodevelopmental conditions

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A hemizygous mutation in the FOXP3 gene

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CHD2 haploinsufficiency is associated with developmental delay, intellectual disability, epilepsy and neurobehavioural problems

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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

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MLPA for confirmation of array CGH results and determination of inheritance

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