Monoallelic variants resulting in substitutions of MAB21L1 Arg51 Cause Aniridia and microphthalmia.

by Hildegard Nikki Hall, Hemant Bengani, Robert B Hufnagel, Giuseppe Damante, Morad Ansari, Joseph A Marsh, Graeme R Grimes, Alex von Kriegsheim, David Moore, Lisa McKie, Jamalia Rahmat, Catia Mio, Moira Blyth, Wee Teik Keng, Lily Islam, Meriel McEntargart, Marcel M Mannens, Veronica Van Heyningen, Joe Rainger, Brian P Brooks, David R FitzPatrick
Published 2022-01-01

Monoallelic variants resulting in substitutions of MAB21L1 Arg51 Cause Aniridia and microphthalmia

by Hildegard Nikki Hall, Hemant Bengani, Robert B. Hufnagel, Giuseppe Damante, Morad Ansari, Joseph A. Marsh, Graeme R. Grimes, Alex von Kriegsheim, David Moore, Lisa McKie, Jamalia Rahmat, Catia Mio, Moira Blyth, Wee Teik Keng, Lily Islam, Meriel McEntargart, Marcel M. Mannens, Veronica Van Heyningen, Joe Rainger, Brian P. Brooks, David R. FitzPatrick
Published 2022-01-01

A sensitive and affordable multiplex RT-qPCR assay for SARS-CoV-2 detection.

by Martin A M Reijns, Louise Thompson, Juan Carlos Acosta, Holly A Black, Francisco J Sanchez-Luque, Austin Diamond, David A Parry, Alison Daniels, Marie O'Shea, Carolina Uggenti, Maria C Sanchez, Alan O'Callaghan, Michelle L L McNab, Martyna Adamowicz, Elias T Friman, Toby Hurd, Edward J Jarman, Frederic Li Mow Chee, Jacqueline K Rainger, Marion Walker, Camilla Drake, Dasa Longman, Christine Mordstein, Sophie J Warlow, Stewart McKay, Louise Slater, Morad Ansari, Ian P M Tomlinson, David Moore, Nadine Wilkinson, Jill Shepherd, Kate Templeton, Ingolfur Johannessen, Christine Tait-Burkard, Jürgen G Haas, Nick Gilbert, Ian R Adams, Andrew P Jackson
Published 2020-12-01

Concordant association of insulin degrading enzyme gene (IDE) variants with IDE mRNA, Abeta, and Alzheimer's disease.

by Minerva M Carrasquillo, Olivia Belbin, Olivia Belbin, Fanggeng Zou, Mariet Allen, Nilufer Ertekin-Taner, Morad Ansari, Samantha L Wilcox, Mariah R Kashino, Li Ma, Linda H Younkin, Samuel G Younkin, Curtis S Younkin, Toros A Dincman, Melissa E Howard, Chanley C Howell, Chloe M Stanton, Christopher M Watson, Michael Crump, Veronique Vitart, Caroline Hayward, Nicholas D Hastie, Igor Rudan, Harry Campbell, Ozren Polasek, Kristelle Brown, Peter Passmore, David Craig, Bernadette McGuinness, Stephen Todd, Patrick G Kehoe, David M Mann, A David Smith, Helen Beaumont, Donald Warden, Clive Holmes, Reinhard Heun, Heike Kölsch, Noor Kalsheker, V Shane Pankratz, Dennis W Dickson, Neill R Graff-Radford, Ronald C Petersen, Alan F Wright, Steven G Younkin, Kevin Morgan
Published 2010-01-01

Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features

by Morad Ansari, Kamli N.W. Faour, Akiko Shimamura, Graeme Grimes, Emeline M. Kao, Erica R. Denhoff, Ana Blatnik, Daniel Ben-Isvy, Lily Wang, Benjamin M. Helm, Helen Firth, Amy M. Breman, Emilia K. Bijlsma, Aiko Iwata-Otsubo, Thomy J.L. de Ravel, Vincent Fusaro, Alan Fryer, Keith Nykamp, Lara G. Stühn, Tobias B. Haack, G. Christoph Korenke, Panayiotis Constantinou, Kinga M. Bujakowska, Karen J. Low, Emily Place, Jennifer Humberson, Melanie P. Napier, Jessica Hoffman, Jane Juusola, Matthew A. Deardorff, Wanqing Shao, Shira Rockowitz, Ian Krantz, Maninder Kaur, Sarah Raible, Victoria Dortenzio, Sabine Kliesch, Moriel Singer-Berk, Emily Groopman, Stephanie DiTroia, Sonia Ballal, Siddharth Srivastava, Kathrin Rothfelder, Saskia Biskup, Jessica Rzasa, Jennifer Kerkhof, Haley McConkey, Bekim Sadikovic, Sarah Hilton, Siddharth Banka, Frank Tüttelmann, Donald F. Conrad, Anne O’Donnell-Luria, Michael E. Talkowski, David R. FitzPatrick, Philip M. Boone
Published 2024-04-01

Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome.

by Morad Ansari, Jacqueline Rainger, Isabel M Hanson, Kathleen A Williamson, Freddie Sharkey, Louise Harewood, Angela Sandilands, Jill Clayton-Smith, Helene Dollfus, Pierre Bitoun, Francoise Meire, Judy Fantes, Brunella Franco, Birgit Lorenz, David S Taylor, Fiona Stewart, Colin E Willoughby, Meriel McEntagart, Peng Tee Khaw, Carol Clericuzio, Lionel Van Maldergem, Denise Williams, Ruth Newbury-Ecob, Elias I Traboulsi, Eduardo D Silva, Mukhlis M Madlom, David R Goudie, Brian W Fleck, Dagmar Wieczorek, Juergen Kohlhase, Alice D McTrusty, Carol Gardiner, Christopher Yale, Anthony T Moore, Isabelle Russell-Eggitt, Lily Islam, Melissa Lees, Philip L Beales, Stephen J Tuft, Juan B Solano, Miranda Splitt, Jens Michael Hertz, Trine E Prescott, Deborah J Shears, Ken K Nischal, Martine Doco-Fenzy, Fabienne Prieur, I Karen Temple, Katherine L Lachlan, Giuseppe Damante, Danny A Morrison, Veronica van Heyningen, David R FitzPatrick
Published 2016-01-01