Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism

Morad Ansari, Gemma Poke, Quentin Ferry, Kathleen Williamson, Roland Aldridge, Alison M Meynert, Hemant Bengani, Cheng Yee Chan, Hülya Kayserili, Şahin Avci, Raoul C M Hennekam, Anne K Lampe, Egbert Redeker, Tessa Homfray, Alison Ross, Marie Falkenberg Smeland, Sahar Mansour, Michael J Parker, Jacqueline A Cook, Miranda Splitt, Richard B Fisher, Alan Fryer, Alex C Magee, Andrew Wilkie, Angela Barnicoat, Angela F Brady, Nicola S Cooper, Catherine Mercer, Charu Deshpande, Christopher P Bennett, Daniela T Pilz, Deborah Ruddy, Deirdre Cilliers, Diana S Johnson, Dragana Josifova, Elisabeth Rosser, Elizabeth M Thompson, Emma Wakeling, Esther Kinning, Fiona Stewart, Frances Flinter, Katta M Girisha, Helen Cox, Helen V Firth, Helen Kingston, Jamie S Wee, Jane A Hurst, Jill Clayton-Smith, John Tolmie, Julie Vogt, Katrina Tatton–Brown, Kate Chandler, Katrina Prescott, Louise Wilson, Mahdiyeh Behnam, Meriel McEntagart, Rosemarie Davidson, Sally-Ann Lynch, Sanjay Sisodiya, Sarju G Mehta, Shane A McKee, Shehla Mohammed, Simon Holden, Soo-Mi Park, Susan E Holder, Victoria Harrison, Vivienne McConnell, Wayne K Lam, Andrew J Green, Dian Donnai, Maria Bitner-Glindzicz, Deirdre E Donnelly, Christoffer Nellåker, Martin S Taylor, David R FitzPatrick

Open source

DOI: 10.1136/jmedgenet-2014-102573
Published: 2014-08-14
Container: Journal of Medical Genetics
Publisher: BMJ
Open access: unknown

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Cite this work

BibTeX

@article{allodium:10.1136/jmedgenet-2014-102573,
  title = {Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism},
  author = {Morad Ansari and Gemma Poke and Quentin Ferry and Kathleen Williamson and Roland Aldridge and Alison M Meynert and Hemant Bengani and Cheng Yee Chan and Hülya Kayserili and Şahin Avci and Raoul C M Hennekam and Anne K Lampe and Egbert Redeker and Tessa Homfray and Alison Ross and Marie Falkenberg Smeland and Sahar Mansour and Michael J Parker and Jacqueline A Cook and Miranda Splitt and Richard B Fisher and Alan Fryer and Alex C Magee and Andrew Wilkie and Angela Barnicoat and Angela F Brady and Nicola S Cooper and Catherine Mercer and Charu Deshpande and Christopher P Bennett and Daniela T Pilz and Deborah Ruddy and Deirdre Cilliers and Diana S Johnson and Dragana Josifova and Elisabeth Rosser and Elizabeth M Thompson and Emma Wakeling and Esther Kinning and Fiona Stewart and Frances Flinter and Katta M Girisha and Helen Cox and Helen V Firth and Helen Kingston and Jamie S Wee and Jane A Hurst and Jill Clayton-Smith and John Tolmie and Julie Vogt and Katrina Tatton–Brown and Kate Chandler and Katrina Prescott and Louise Wilson and Mahdiyeh Behnam and Meriel McEntagart and Rosemarie Davidson and Sally-Ann Lynch and Sanjay Sisodiya and Sarju G Mehta and Shane A McKee and Shehla Mohammed and Simon Holden and Soo-Mi Park and Susan E Holder and Victoria Harrison and Vivienne McConnell and Wayne K Lam and Andrew J Green and Dian Donnai and Maria Bitner-Glindzicz and Deirdre E Donnelly and Christoffer Nellåker and Martin S Taylor and David R FitzPatrick},
  year = {2014},
  journal = {Journal of Medical Genetics},
  doi = {10.1136/jmedgenet-2014-102573},
  url = {https://doi.org/10.1136/jmedgenet-2014-102573}
}

RIS

TY  - JOUR
TI  - Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism
AU  - Morad Ansari
AU  - Gemma Poke
AU  - Quentin Ferry
AU  - Kathleen Williamson
AU  - Roland Aldridge
AU  - Alison M Meynert
AU  - Hemant Bengani
AU  - Cheng Yee Chan
AU  - Hülya Kayserili
AU  - Şahin Avci
AU  - Raoul C M Hennekam
AU  - Anne K Lampe
AU  - Egbert Redeker
AU  - Tessa Homfray
AU  - Alison Ross
AU  - Marie Falkenberg Smeland
AU  - Sahar Mansour
AU  - Michael J Parker
AU  - Jacqueline A Cook
AU  - Miranda Splitt
AU  - Richard B Fisher
AU  - Alan Fryer
AU  - Alex C Magee
AU  - Andrew Wilkie
AU  - Angela Barnicoat
AU  - Angela F Brady
AU  - Nicola S Cooper
AU  - Catherine Mercer
AU  - Charu Deshpande
AU  - Christopher P Bennett
AU  - Daniela T Pilz
AU  - Deborah Ruddy
AU  - Deirdre Cilliers
AU  - Diana S Johnson
AU  - Dragana Josifova
AU  - Elisabeth Rosser
AU  - Elizabeth M Thompson
AU  - Emma Wakeling
AU  - Esther Kinning
AU  - Fiona Stewart
AU  - Frances Flinter
AU  - Katta M Girisha
AU  - Helen Cox
AU  - Helen V Firth
AU  - Helen Kingston
AU  - Jamie S Wee
AU  - Jane A Hurst
AU  - Jill Clayton-Smith
AU  - John Tolmie
AU  - Julie Vogt
AU  - Katrina Tatton–Brown
AU  - Kate Chandler
AU  - Katrina Prescott
AU  - Louise Wilson
AU  - Mahdiyeh Behnam
AU  - Meriel McEntagart
AU  - Rosemarie Davidson
AU  - Sally-Ann Lynch
AU  - Sanjay Sisodiya
AU  - Sarju G Mehta
AU  - Shane A McKee
AU  - Shehla Mohammed
AU  - Simon Holden
AU  - Soo-Mi Park
AU  - Susan E Holder
AU  - Victoria Harrison
AU  - Vivienne McConnell
AU  - Wayne K Lam
AU  - Andrew J Green
AU  - Dian Donnai
AU  - Maria Bitner-Glindzicz
AU  - Deirdre E Donnelly
AU  - Christoffer Nellåker
AU  - Martin S Taylor
AU  - David R FitzPatrick
PY  - 2014
JO  - Journal of Medical Genetics
DO  - 10.1136/jmedgenet-2014-102573
UR  - https://doi.org/10.1136/jmedgenet-2014-102573
ER  -

APA

Ansari, M., Poke, G., Ferry, Q., Williamson, K., Aldridge, R., Meynert, A. M., Bengani, H., Chan, C. Y., Kayserili, H., Avci, Ş., Hennekam, R. C. M., Lampe, A. K., Redeker, E., Homfray, T., Ross, A., Smeland, M. F., Mansour, S., Parker, M. J., Cook, J. A., Splitt, M., Fisher, R. B., Fryer, A., Magee, A. C., Wilkie, A., Barnicoat, A., Brady, A. F., Cooper, N. S., Mercer, C., Deshpande, C., Bennett, C. P., Pilz, D. T., Ruddy, D., Cilliers, D., Johnson, D. S., Josifova, D., Rosser, E., Thompson, E. M., Wakeling, E., Kinning, E., Stewart, F., Flinter, F., Girisha, K. M., Cox, H., Firth, H. V., Kingston, H., Wee, J. S., Hurst, J. A., Clayton-Smith, J., Tolmie, J., Vogt, J., Tatton–Brown, K., Chandler, K., Prescott, K., Wilson, L., Behnam, M., McEntagart, M., Davidson, R., Lynch, S., Sisodiya, S., Mehta, S. G., McKee, S. A., Mohammed, S., Holden, S., Park, S., Holder, S. E., Harrison, V., McConnell, V., Lam, W. K., Green, A. J., Donnai, D., Bitner-Glindzicz, M., Donnelly, D. E., Nellåker, C., Taylor, M. S., & FitzPatrick, D. R. (2014). Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism. Journal of Medical Genetics. https://doi.org/10.1136/jmedgenet-2014-102573

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