Christopher Mark Watson (Christopher M Watson, C M Watson)

Loop profile ORCID

Publication Activity (10 Years)

Years Active: 2014-2024
Publications (10 Years): 33

Top Venues

Journal of medical genetics

Genes

Laboratory investigation; a journal of technical methods and pathology

Molecular genetics & genomic medicine

Leeds Teaching Hospitals NHS Trust

This page only lists publications with an associated author ORCID identifier.

Affiliation History

Leeds Teaching Hospitals NHS Trust

United Kingdom

Principal Healthcare Scientist

Publications

Claire E L Smith, Virginie Laugel-Haushalter, Ummey Hany, Sunayna Best, Rachel L Taylor, James A Poulter, Saskia B Wortmann, René Günther Feichtinger, Johannes A Mayr, Suhaila Al Bahlani, Georgios Nikolopoulos, Alice Rigby, Graeme C Black, Christopher Mark Watson, Sahar Mansour, Chris F Inglehearn, Alan J Mighell, Agnès Bloch-Zupan, null null
Biallelic variants in Plexin B2 ( PLXNB2 ) cause amelogenesis imperfecta, hearing loss and intellectual disability. Journal of medical genetics 61 (7) (2024)
Claire E L Smith, Virginie Laugel-Haushalter, Ummey Hany, Sunayna Best, Rachel L Taylor, James A Poulter, Saskia B Wortmann, René Günther Feichtinger, Johannes A Mayr, Suhaila Al Bahlani, Georgios Nikolopoulos, Alice Rigby, Graeme C Black, Christopher Mark Watson, Sahar Mansour, Chris F Inglehearn, Alan J Mighell, Agnès Bloch-Zupan, null null
Biallelic variants in Plexin B2 ( PLXNB2 ) cause amelogenesis imperfecta, hearing loss and intellectual disability. Journal of medical genetics 61 (7) (2024)
Claire E L Smith, Virginie Laugel-Haushalter, Ummey Hany, Sunayna Best, Rachel L Taylor, James A Poulter, Saskia B Wortmann, René Günther Feichtinger, Johannes A Mayr, Suhaila Al Bahlani, Georgios Nikolopoulos, Alice Rigby, Graeme C Black, Christopher Mark Watson, Sahar Mansour, Chris F Inglehearn, Alan J Mighell, Agnès Bloch-Zupan, null null
Biallelic variants in Plexin B2 ( PLXNB2 ) cause amelogenesis imperfecta, hearing loss and intellectual disability. Journal of medical genetics (2024)
Ilse Luyckx, Isaac Scott Walton, Nele Boeckx, Kristof Van Schil, Chingyiu Pang, Mania De Praeter, Helen Lord, Christopher Mark Watson, David T Bonthron, Lut Van Laer, Andrew O M Wilkie, Bart L Loeys
Homozygous SMAD6 variants in two unrelated patients with craniosynostosis and radioulnar synostosis. Journal of medical genetics 61 (4) (2024)
Claire E L Smith, Virginie Laugel-Haushalter, Ummey Hany, Sunayna Best, Rachel L Taylor, James A Poulter, Saskia B Wortmann, René Günther Feichtinger, Johannes A Mayr, Suhaila Al Bahlani, Georgios Nikolopoulos, Alice Rigby, Graeme C Black, Christopher Mark Watson, Sahar Mansour, Chris F Inglehearn, Alan J Mighell, Agnès Bloch-Zupan, null null
Biallelic variants in Plexin B2 ( PLXNB2 ) cause amelogenesis imperfecta, hearing loss and intellectual disability. Journal of medical genetics 61 (7) (2024)
Claire E L Smith, Virginie Laugel-Haushalter, Ummey Hany, Sunayna Best, Rachel L Taylor, James A Poulter, Saskia B Wortmann, René Günther Feichtinger, Johannes A Mayr, Suhaila Al Bahlani, Georgios Nikolopoulos, Alice Rigby, Graeme C Black, Christopher Mark Watson, Sahar Mansour, Chris F Inglehearn, Alan J Mighell, Agnès Bloch-Zupan, null null
Biallelic variants in Plexin B2 ( PLXNB2 ) cause amelogenesis imperfecta, hearing loss and intellectual disability. Journal of medical genetics (2024)
Ilse Luyckx, Isaac Scott Walton, Nele Boeckx, Kristof Van Schil, Chingyiu Pang, Mania De Praeter, Helen Lord, Christopher Mark Watson, David T Bonthron, Lut Van Laer, Andrew O M Wilkie, Bart L Loeys
Homozygous SMAD6 variants in two unrelated patients with craniosynostosis and radioulnar synostosis. Journal of medical genetics 61 (4) (2024)
Ilse Luyckx, Isaac Scott Walton, Nele Boeckx, Kristof Van Schil, Chingyiu Pang, Mania De Praeter, Helen Lord, Christopher Mark Watson, David T Bonthron, Lut Van Laer, Andrew O M Wilkie, Bart L Loeys
Homozygous SMAD6 variants in two unrelated patients with craniosynostosis and radioulnar synostosis. Journal of medical genetics (2024)
Ilse Luyckx, Isaac Scott Walton, Nele Boeckx, Kristof Van Schil, Chingyiu Pang, Mania De Praeter, Helen Lord, Christopher Mark Watson, David T Bonthron, Lut Van Laer, Andrew O M Wilkie, Bart L Loeys
Homozygous SMAD6 variants in two unrelated patients with craniosynostosis and radioulnar synostosis. Journal of medical genetics 61 (4) (2024)
Ilse Luyckx, Isaac Scott Walton, Nele Boeckx, Kristof Van Schil, Chingyiu Pang, Mania De Praeter, Helen Lord, Christopher Mark Watson, David T Bonthron, Lut Van Laer, Andrew O M Wilkie, Bart L Loeys
Homozygous SMAD6 variants in two unrelated patients with craniosynostosis and radioulnar synostosis. Journal of medical genetics 61 (4) (2024)
Ummey Hany, Christopher Mark Watson, Lu Liu, Claire E L Smith, Asmaa Harfoush, James A Poulter, Georgios Nikolopoulos, Richard Balmer, Catriona J Brown, Anesha Patel, Jenny Simmonds, Ruth Charlton, María Gabriela Acosta de Camargo, Helen D Rodd, Hussain Jafri, Agne Antanaviciute, Michelle Moffat, Maisoon Al-Jawad, Chris F Inglehearn, Alan J Mighell
Heterozygous COL17A1 variants are a frequent cause of amelogenesis imperfecta. Journal of medical genetics (2023)
Benjamin McClinton, Zelia Corradi, Martin McKibbin, Daan M Panneman, Susanne Roosing, Erica G M Boonen, Manir Ali, Christopher Mark Watson, David H Steel, Frans P M Cremers, Chris F Inglehearn, Rebekkah J Hitti-Malin, Carmel Toomes
Effective smMIPs-Based Sequencing of Maculopathy-Associated Genes in Stargardt Disease Cases and Allied Maculopathies from the UK. Genes 14 (1) (2023)
Ummey Hany, Christopher Mark Watson, L Liu, G Nikolopoulos, C E L Smith, J A Poulter, C J Brown, A Patel, H D Rodd, R Balmer, A Harfoush, M Al-Jawad, Chris F Inglehearn, A J Mighell
Novel Ameloblastin Variants, Contrasting Amelogenesis Imperfecta Phenotypes. Journal of dental research (2023)
Samar Yahya, Christopher Mark Watson, Ian M Carr, Martin McKibbin, Laura A Crinnion, Morag Taylor, Hope Bonin, Tracy Fletcher, Mohammed E El-Asrag, Manir Ali, Carmel Toomes, Chris F Inglehearn
Long-Read Nanopore Sequencing of RPGR ORF15 is Enhanced Following DNase I Treatment of MinION Flow Cells. Molecular diagnosis & therapy (2023)
Benjamin McClinton, Zelia Corradi, Martin McKibbin, Daan M Panneman, Susanne Roosing, Erica G M Boonen, Manir Ali, Christopher Mark Watson, David H Steel, Frans P M Cremers, Chris F Inglehearn, Rebekkah J Hitti-Malin, Carmel Toomes
Effective smMIPs-Based Sequencing of Maculopathy-Associated Genes in Stargardt Disease Cases and Allied Maculopathies from the UK. Genes 14 (1) (2023)
Direnis Erdinc, Alejandro Rodríguez-Luis, Mahmoud R Fassad, Sarah Mackenzie, Christopher Mark Watson, Sebastian Valenzuela, Xie Xie, Katja E Menger, Kate Sergeant, Kate Craig, Sila Hopton, Gavin Falkous, null null, Joanna Poulton, Hector Garcia-Moreno, Paola Giunti, Carlos A de Moura Aschoff, Jonas A Morales Saute, Amelia J Kirby, Camilo Toro, Lynne A Wolfe, Danica Novacic, Lior Greenbaum, Aviva Eliyahu, Ortal Barel, Yair Anikster, Robert McFarland, Gráinne S Gorman, Andrew M Schaefer, Claes M Gustafsson, Robert W Taylor, Maria Falkenberg, Thomas J Nicholls
Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stability. EMBO molecular medicine (2023)
Benjamin McClinton, Zelia Corradi, Martin McKibbin, Daan M Panneman, Susanne Roosing, Erica G M Boonen, Manir Ali, Christopher Mark Watson, David H Steel, Frans P M Cremers, Chris F Inglehearn, Rebekkah J Hitti-Malin, Carmel Toomes
Effective smMIPs-Based Sequencing of Maculopathy-Associated Genes in Stargardt Disease Cases and Allied Maculopathies from the UK. Genes 14 (1) (2023)
Benjamin McClinton, Laura A Crinnion, Martin McKibbin, Rajarshi Mukherjee, James A Poulter, Claire E L Smith, Manir Ali, Christopher Mark Watson, Chris F Inglehearn, Carmel Toomes
Targeted nanopore sequencing enables complete characterisation of structural deletions initially identified using exon-based short-read sequencing strategies. Molecular genetics & genomic medicine (2023)
Sunayna Best, Chris F Inglehearn, Christopher Mark Watson, Carmel Toomes, Gabrielle Wheway, Colin A Johnson
Unlocking the potential of the UK 100,000 Genomes Project-lessons learned from analysis of the "Congenital Malformations caused by Ciliopathies" cohort. American journal of medical genetics. Part C, Seminars in medical genetics 190 (1) (2022)
Christopher Mark Watson, Lucy Jackson, Laura A Crinnion, David T Bonthron, Eamonn Sheridan
Long-read sequencing to resolve the parent of origin of a de novo pathogenic UBE3A variant. Journal of medical genetics 59 (11) (2022)
Christopher Mark Watson, Deborah L Holliday, Laura A Crinnion, David T Bonthron
Long-read nanopore DNA sequencing can resolve complex intragenic duplication/deletion variants, providing information to enable preimplantation genetic diagnosis. Prenatal diagnosis 42 (2) (2022)
Sunayna Best, Jing Yu, Jenny Lord, Matthew Roche, Christopher Mark Watson, Roel P J Bevers, Alex Stuckey, Savita Madhusudhan, Rosalyn Jewell, Sanjay M Sisodiya, Siying Lin, Stephen Turner, Hannah Robinson, Joseph S Leslie, Emma Baple, null null, Carmel Toomes, Chris Inglehearn, Gabrielle Wheway, Colin A Johnson
Uncovering the burden of hidden ciliopathies in the 100 000 Genomes Project: a reverse phenotyping approach. Journal of medical genetics 59 (12) (2022)
Christopher Mark Watson, Fatima Nadat, Sammiya Ahmed, Laura A Crinnion, Sean O'Riordan, Clive Carter, Sinisa Savic
Identification of a novel MAGT1 mutation supports a diagnosis of XMEN disease. Genes and immunity 23 (2) (2022)
Sunayna Best, Jenny Lord, Matthew Roche, Christopher Mark Watson, James A Poulter, Roel P J Bevers, Alex Stuckey, Katarzyna Szymanska, Jamie M Ellingford, Jenny Carmichael, Helen Brittain, Carmel Toomes, Chris Inglehearn, Colin A Johnson, Gabrielle Wheway, null null
Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100,000 Genomes Project. Journal of medical genetics (2021)
Lesley M Chapman, Noah Spies, Patrick Pai, Chun Shen Lim, Andrew Carroll, Giuseppe Narzisi, Christopher Mark Watson, Christos Proukakis, Wayne E Clarke, Naoki Nariai, Eric T Dawson, Garan Jones, Daniel Blankenberg, Christian Brueffer, Chunlin Xiao, Sree Rohit Raj Kolora, Noah Alexander, Paul Wolujewicz, Azza E Ahmed, Graeme Smith, Saadlee Shehreen, Aaron M Wenger, Marc L Salit, Justin M Zook
A crowdsourced set of curated structural variants for the human genome. PLoS computational biology 16 (6) (2020)
Christopher Mark Watson, Laura A Crinnion, Helen Lindsay, Rowena Mitchell, Nick Camm, Rachel Robinson, Caroline M Joyce, George A Tanteles, Domhnall J O' Halloran, Sergio D J Pena, Ian M Carr, David T Bonthron
Assessing the utility of long-read nanopore sequencing for rapid and efficient characterization of mobile element insertions. Laboratory investigation; a journal of technical methods and pathology 101 (4) (2020)
Christopher Mark Watson, Philip Dean, Nick Camm, Jennifer Bates, Ian M Carr, Carol A Gardiner, David T Bonthron
Long-read nanopore sequencing resolves a TMEM231 gene conversion event causing Meckel-Gruber syndrome. Human mutation 41 (2) (2019)
Christopher Mark Watson, Laura A Crinnion, Sarah Hewitt, Jennifer Bates, Rachel Robinson, Ian M Carr, Eamonn Sheridan, Julian Adlard, David T Bonthron
Cas9-based enrichment and single-molecule sequencing for precise characterization of genomic duplications. Laboratory investigation; a journal of technical methods and pathology 100 (1) (2019)
Mahmoud R Fassad, Mitali P Patel, Amelia Shoemark, Thomas Cullup, Jane Hayward, Mellisa Dixon, Andrew V Rogers, Sarah Ollosson, Claire Jackson, Patricia Goggin, Robert A Hirst, Andrew Rutman, James Thompson, Lucy Jenkins, Paul Aurora, Eduardo Moya, Philip Chetcuti, Chris O'Callaghan, Deborah J Morris-Rosendahl, Christopher Mark Watson, Robert Wilson, Siobhan Carr, Woolf Walker, Andreia Pitno, Susana Lopes, Heba Morsy, Walaa Shoman, Luisa Pereira, Carolina Constant, Michael R Loebinger, Eddie M K Chung, Priti Kenia, Nisreen Rumman, Nader Fasseeh, Jane S Lucas, Claire Hogg, Hannah M Mitchison
Clinical utility of NGS diagnosis and disease stratification in a multiethnic primary ciliary dyskinesia cohort. Journal of medical genetics 57 (5) (2019)
Lesley Walker, Christopher Mark Watson, Sarah Hewitt, Laura A Crinnion, David T Bonthron, Kelly E Cohen
An alternative to array-based diagnostics: a prospectively recruited cohort, comparing arrayCGH to next-generation sequencing to evaluate foetal structural abnormalities. Journal of obstetrics and gynaecology : the journal of the Institute of Obstetrics and Gynaecology 39 (3) (2019)
Christopher Mark Watson, Nick Camm, Laura A Crinnion, Samuel Clokie, Rachel L Robinson, Julian Adlard, Ruth Charlton, Alexander F Markham, Ian M Carr, David T Bonthron
Increased Sensitivity of Diagnostic Mutation Detection by Re-analysis Incorporating Local Reassembly of Sequence Reads. Molecular diagnosis & therapy 21 (6) (2018)
Christopher Mark Watson, Laura A Crinnion, Helen Murphy, Melanie Newbould, Sally M Harrison, Carolina Lascelles, Agne Antanaviciute, Ian M Carr, Eamonn Sheridan, David T Bonthron, Audrey Smith
Deficiency of the myogenic factor MyoD causes a perinatally lethal fetal akinesia. Journal of medical genetics 53 (4) (2016)
Christopher Mark Watson, Laura A Crinnion, Sally M Harrison, Carolina Lascelles, Agne Antanaviciute, Ian M Carr, David T Bonthron, Eamonn Sheridan
A Chromosome 7 Pericentric Inversion Defined at Single-Nucleotide Resolution Using Diagnostic Whole Genome Sequencing in a Patient with Hand-Foot-Genital Syndrome. PloS one 11 (6) (2016)
James A Poulter, Claire E L Smith, Gina Murrillo, Sandra Silva, Sally Feather, Marianella Howell, Laura Crinnion, David T Bonthron, Ian M Carr, Christopher Mark Watson, Chris F Inglehearn, Alan J Mighell
A distinctive oral phenotype points to FAM20A mutations not identified by Sanger sequencing. Molecular genetics & genomic medicine 3 (6) (2015)
Kate M Sutton, Laura A Crinnion, David Wallace, Sally Harrison, Paul Roberts, Christopher Mark Watson, Alexander F Markham, David T Bonthron, Philip Quirke, Ian M Carr
Detection of somatic mutations in tumors using unaligned clonal sequencing data. Laboratory investigation; a journal of technical methods and pathology 94 (10) (2014)

Christopher Mark Watson.css-eqlu8i{font-size:small;padding-left:4px;} (Christopher M Watson, C M Watson)

Publication Activity (10 Years)

Top Topics

Top Venues

Christopher Mark Watson (Christopher M Watson, C M Watson)