James A Poulter

ResearcherID Loop profile ORCID

Publication Activity (10 Years)

Years Active: 2015-2024
Publications (10 Years): 20

Top Venues

Journal of medical genetics

European journal of human genetics : EJHG

Molecular genetics & genomic medicine

Human mutation

University of Leeds School of Medicine

University of Leeds (PHD)

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

Affiliation History

University of Leeds School of Medicine Jan 01 2017

United Kingdom

Career Development Fellow (Functional Genomics) :: Section of Genetics

University of Leeds School of Medicine Jan 01 2016 - Dec 31 2016

United Kingdom

Research Fellow in Ophthlamology :: Ophthalmology & Neuroscience

University of Leeds School of Medicine - Dec 31 2015

United Kingdom

Post-Doc in Dentistry :: Ophthalmology & Neuroscience

Education History

University of Leeds Oct 01 2008

United Kingdom

PHD :: Ophthalmology & Neuroscience

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)
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)
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)
Mostafa Saleban, Erica L Harris, James A Poulter
D-Type Cyclins in Development and Disease. Genes 14 (7) (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)
Marcela A Ferrada, Sinisa Savic, Daniela Ospina Cardona, Jason C Collins, Hugh Alessi, Fernanda Gutierrez-Rodrigues, Dinesh Babu Uthaya Kumar, Lorena Wilson, Wendy Goodspeed, James S Topilow, Julie J Paik, James A Poulter, Tanaz A Kermani, Matthew J Koster, Kenneth J Warrington, Catherine Cargo, Rachel S Tattersall, Christopher James Arthur Duncan, Anna Cantor, Patrycja Hoffmann, Elspeth M Payne, Hanna Bonnekoh, Karoline Krause, Edward W Cowen, Katherine R Calvo, Bhavisha A Patel, Amanda K Ombrello, Daniel L Kastner, Neal S Young, Achim Werner, Peter C Grayson, David B Beck
Translation of cytoplasmic UBA1 contributes to VEXAS syndrome pathogenesis. Blood 140 (13) (2022)
Marilena Elpidorou, James A Poulter, Katarzyna Szymanska, Wia Baron, Katrin Junger, Karsten Boldt, Marius Ueffing, Lydia Green, John H Livingston, Eammon G Sheridan, Colin A Johnson
Missense mutation of MAL causes a rare leukodystrophy similar to Pelizaeus-Merzbacher disease. European journal of human genetics : EJHG 30 (7) (2022)
Georgios Nikolopoulos, Claire E L Smith, James A Poulter, Gina Murillo, Sandra Silva, Teresa Lamb, Ian R Berry, Catriona J Brown, Peter F Day, Francesca Soldani, Suhaila Al-Bahlani, Sarah A Harris, Mary J O'Connell, Chris F Inglehearn, Alan J Mighell
Spectrum of pathogenic variants and founder effects in amelogenesis imperfecta associated with MMP20. Human mutation 42 (5) (2021)
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)
Diana E Baxter, Lisa M Allinson, Waleed S Al Amri, James A Poulter, Arindam Pramanik, James L Thorne, Eldo T Verghese, Thomas A Hughes
MiR-195 and Its Target SEMA6D Regulate Chemoresponse in Breast Cancer. Cancers 13 (23) (2021)
James A Poulter, Jason C Collins, Catherine Cargo, Ruth M De Tute, Paul Evans, Daniela Ospina Cardona, David T Bowen, Joanna R Cunnington, Elaine Baguley, Mark Quinn, Michael Green, Dennis McGonagle, David B Beck, Achim Werner, Sinisa Savic
Novel somatic mutations in UBA1 as a cause of VEXAS syndrome. Blood 137 (26) (2021)
Marilena Elpidorou, Sunayna Best, James A Poulter, Verity Hartill, Emma Hobson, Eamonn Sheridan, Colin A Johnson
Novel loss-of-function mutation in HERC2 is associated with severe developmental delay and paediatric lethality. Journal of medical genetics 58 (5) (2020)
Emily A Caseley, James A Poulter, François Rodrigues, null null, Michael F McDermott
Inflammasome inhibition under physiological and pharmacological conditions. Genes and immunity 21 (4) (2020)
James A Poulter, Molly S C Gravett, Rachel L Taylor, Kaoru Fujinami, Julie De Zaeytijd, James Bellingham, Atta Ur Rehman, Takaaki Hayashi, Mineo Kondo, Abdur Rehman, Muhammad Ansar, Dan Donnelly, Carmel Toomes, Manir Ali, null null, Elfride De Baere, Bart P Leroy, Nigel P Davies, Robert H Henderson, Andrew R Webster, Carlo Rivolta, Christina Zeitz, Omar A Mahroo, Gavin Arno, Graeme C M Black, Martin McKibbin, Sarah A Harris, Kamron N Khan, Chris F Inglehearn
New variants and in silico analyses in GRK1 associated Oguchi disease. Human mutation 42 (2) (2020)
Kamron N Khan, Anthony Robson, Omar A R Mahroo, Gavin Arno, Chris F Inglehearn, Monica Armengol, Naushin Waseem, Graham E Holder, Keren J Carss, Lucy F Raymond, Andrew R Webster, Anthony T Moore, Martin McKibbin, Maria M van Genderen, James A Poulter, Michel Michaelides, null null
A clinical and molecular characterisation of CRB1-associated maculopathy. European journal of human genetics : EJHG 26 (5) (2018)
Claire El Smith, Laura LE Whitehouse, James A Poulter, Steven J Brookes, Peter F Day, Francesca Soldani, Jennifer Kirkham, Chris F Inglehearn, Alan J Mighell
Defects in the acid phosphatase ACPT cause recessive hypoplastic amelogenesis imperfecta. European journal of human genetics : EJHG 25 (8) (2017)
Claire E L Smith, James A Poulter, Alex V Levin, Jenina E Capasso, Susan Price, Tamar Ben-Yosef, Reuven Sharony, William G Newman, Roger C Shore, Steven J Brookes, Alan J Mighell, Chris F Inglehearn
Spectrum of PEX1 and PEX6 variants in Heimler syndrome. European journal of human genetics : EJHG 24 (11) (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)

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Publication Activity (10 Years)

Top Topics

Top Venues

James A Poulter