Zobrazeno 1 - 10
of 16
pro vyhledávání: '"Karen J, Woodward"'
Autor:
Vahid Bahrambeigi, Xiaofei Song, Karen Sperle, Christine R. Beck, Hadia Hijazi, Christopher M. Grochowski, Shen Gu, Pavel Seeman, Karen J. Woodward, Claudia M. B. Carvalho, Grace M. Hobson, James R. Lupski
Publikováno v:
Genome Medicine, Vol 11, Iss 1, Pp 1-17 (2019)
Abstract Background We investigated the features of the genomic rearrangements in a cohort of 50 male individuals with proteolipid protein 1 (PLP1) copy number gain events who were ascertained with Pelizaeus-Merzbacher disease (PMD; MIM: 312080). We
Externí odkaz:
https://doaj.org/article/e62010d3a4f7460980eda6cd0e59006b
Autor:
Mark Agostino, Fiona McKenzie, Chloe Buck, Karen J. Woodward, Vanessa J. Atkinson, Dimitar N. Azmanov, Julian Ik-Tsen Heng
Publikováno v:
ACS Omega. 7:25039-25045
Missense variants in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d7be7ddb0d561bc8c668b0067fb7035
https://doi.org/10.1021/acsomega.2c00959
https://doi.org/10.1021/acsomega.2c00959
Autor:
Catherine S. Choong, John Beilby, Joan Uzaraga, Karen J. Woodward, Vicki Chabros, Fabiana Ramos Vasques Walters, Dimitar N. Azmanov, Sarah L. Nickerson, Dagmara A. Kennedy, Tanya Grumball, Joanne Peverall, Gillian M. Arscott, Tracey Edwards, Rebecca E. Brereton, Vanessa Marchin, Soruba Sivamoorthy, Sharron Townshend
Publikováno v:
American Journal of Medical Genetics Part A. 185:3136-3145
Silver-Russell syndrome (SRS) is a rare genetic condition primarily characterized by growth restriction and facial dysmorphisms. While hypomethylation of H19/IGF2:IG-DMR (imprinting control region 1 [IC1]) located at 11p15.5 and maternal uniparental
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8ede31251fe9231625fce8f9f6cdc7b9
https://doi.org/10.1002/ajmg.a.62391
https://doi.org/10.1002/ajmg.a.62391
Autor:
Ram, Singh, Ana S A, Cohen, Cathryn, Poulton, Tina Duelund, Hjortshøj, Moe, Akahira-Azuma, Geetu, Mendiratta, Wahab A, Khan, Dimitar N, Azmanov, Karen J, Woodward, Maria, Kirchhoff, Lisong, Shi, Lisa, Edelmann, Gareth, Baynam, Stuart A, Scott, Ethylin Wang, Jabs
Publikováno v:
Cold Spring Harbor Molecular Case Studies
The ETS2 repressor factor (ERF) is a transcription factor in the RAS-MEK-ERK signal transduction cascade that regulates cell proliferation and differentiation, and pathogenic sequence variants in the ERF gene cause variable craniosynostosis inherited
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::bbcb0e89bc87825bea96a82ae2f8c83f
https://pubmed.ncbi.nlm.nih.gov/34117072
https://pubmed.ncbi.nlm.nih.gov/34117072
Autor:
Simon Williams, Clarissa Yates, Helen Wright, Joanne Peverall, Peter Shipman, David Ravine, John Beilby, Hamid Alinejad-Rokny, Gareth Baynam, Soruba Sivamoorthy, Julian Ik-Tsen Heng, Karen J. Woodward, Cathryn Poulton
Publikováno v:
Molecular Genetics & Genomic Medicine
Background Pallister-Killian syndrome (PKS) is a rare multisystem developmental syndrome usually caused by mosaic tetrasomy of chromosome 12p that is known to be associated with neurological defects. Methods We describe two patients with PKS, one of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6eac79fca672d8f4e0def397d9cd9168
http://europepmc.org/articles/PMC5823685
http://europepmc.org/articles/PMC5823685
Autor:
Karen J. Woodward, Hadia Hijazi, Vahid Bahrambeigi, Xiaofei Song, Shen Gu, Grace M. Hobson, Christine R. Beck, James R. Lupski, Claudia M.B. Carvalho, Karen Sperle, Christopher M. Grochowski, Pavel Seeman
Publikováno v:
Genome Medicine
Genome Medicine, Vol 11, Iss 1, Pp 1-17 (2019)
Genome Medicine, Vol 11, Iss 1, Pp 1-17 (2019)
Background We investigated the features of the genomic rearrangements in a cohort of 50 male individuals with proteolipid protein 1 (PLP1) copy number gain events who were ascertained with Pelizaeus-Merzbacher disease (PMD; MIM: 312080). We then comp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e21dd5b78ae77ac6e51db935d9239b46
https://doi.org/10.1186/s13073-019-0676-0
https://doi.org/10.1186/s13073-019-0676-0
Autor:
Jozef Gecz, Dani L. Webber, Kelly Harper, Stephen J. Bent, Luis A. Pérez-Jurado, Jesia G. Berry, Morgan Newman, Mark A. Corbett, Dimitar N. Azmanov, Alastair H. MacLennan, Jennie Slee, Clare L. van Eyk, Karen J. Woodward, Alison Gardner
Publikováno v:
NPJ Genomic Medicine
npj Genomic Medicine, Vol 4, Iss 1, Pp 1-1 (2019)
npj Genomic Medicine, Vol 4, Iss 1, Pp 1-1 (2019)
Cerebral palsy (CP) is the most frequent movement disorder of childhood affecting 1 in 500 live births in developed countries. We previously identified likely pathogenic de novo or inherited single nucleotide variants (SNV) in 14% (14/98) of trios by
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::23c0504d5ab9f859ab088470934dcafc
https://doi.org/10.1038/s41525-019-0086-7
https://doi.org/10.1038/s41525-019-0086-7
Autor:
Ana S. A. Cohen, Gareth Baynam, Ethylin Wang Jabs, Tina Duelund Hjortshøj, Dimitar N. Azmanov, Karen J. Woodward, Wahab A. Khan, Cathryn Poulton, Ram Singh, Maria Kirchhoff, Stuart A. Scott, Lisong Shi, Geetu Mendiratta, Lisa Edelmann, Moe Akahira-Azuma
Publikováno v:
Molecular Case Studies. 7:a005991
The ETS2 repressor factor (ERF) is a transcription factor in the RAS-MEK-ERK signal transduction cascade that regulates cell proliferation and differentiation, and pathogenic sequence variants in the ERF gene cause variable craniosynostosis inherited
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::174276cdd85caa4192c70339651008a6
https://doi.org/10.1101/mcs.a005991
https://doi.org/10.1101/mcs.a005991
Autor:
David Ravine, Karen J. Woodward, Peter Shipman, Isabel A. Hemming, Peter Walsh, Alistair R. R. Forrest, Julian Ik-Tsen Heng
Publikováno v:
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics. 171:458-467
Copy Number Variations (CNVs) comprising the distal 1q region 1q43-q44 are associated with neurological impairments, structural brain disorder, and intellectual disability. Here, we report an extremely rare, de novo case of a 1q43-q44 deletion with a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b119082127f6fe868195123ce47c6174
https://doi.org/10.1002/ajmg.b.32427
https://doi.org/10.1002/ajmg.b.32427
Autor:
Soruba Sivamoorthy, Lakshmi Nagarajan, Tanya Grumball, Julian Ik-Tsen Heng, Ashleigh Murch, Joanne Peverall, Sabine Afchani, John Wray, Matthew S. Edwards, Julie Stampalia, Hamid Alinejad-Rokny, Cathy Kiraly-Borri, Jacqueline Scurlock, Hashika Rijhumal, Fiona Haslam McKenzie, Gareth Baynam, John Beilby, Kim Potts, Hannah Vanyai, Andrew J. O. Whitehouse, Fiona Taylor, Karen J. Woodward
Publikováno v:
Molecular Genetics & Genomic Medicine
Background Chromosome 22q11.2 is susceptible to genomic rearrangements and the most frequently reported involve deletions and duplications between low copy repeats LCR22A to LCR22D. Atypical nested deletions and duplications are rarer and can provide
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::77316d180315379f9394b871c531564d
https://doi.org/10.1002/mgg3.507
https://doi.org/10.1002/mgg3.507