A patient with a germline SDHB mutation presenting with an isolated pituitary macroprolactinoma

by Michelle Maher, Federico Roncaroli, Nigel Mendoza, Karim Meeran, Natalie Canham, Monika Kosicka-Slawinska, Birgitta Bernhard, David Collier, Juliana Drummond, Kassiani Skordilis, Nicola Tufton, Anastasia Gontsarova, Niamh Martin, Márta Korbonits, Florian Wernig
Published 2018-07-01

Delivery of a national prenatal exome sequencing service in England: a mixed methods study exploring healthcare professionals’ views and experiences

by Michelle Peter, Michelle Peter, Rhiannon Mellis, Rhiannon Mellis, Hannah McInnes-Dean, Morgan Daniel, Morgan Daniel, Holly Walton, Jane Fisher, Kerry Leeson-Beevers, Stephanie Allen, Emma L. Baple, Emma L. Baple, Ana Beleza-Meireles, Marta Bertoli, Jennifer Campbell, Natalie Canham, Deirdre Cilliers, Jan Cobben, Jacqueline Eason, Victoria Harrison, Muriel Holder-Espinasse, Alison Male, Sahar Mansour, Alec McEwan, Soo-Mi Park, Audrey Smith, Alison Stewart, Dagmar Tapon, Pradeep Vasudevan, Denise Williams, Wing Han Wu, Wing Han Wu, Lyn S. Chitty, Lyn S. Chitty, Melissa Hill, Melissa Hill
Published 2024-06-01

Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation

by Marie Bernkopf, Ummi B. Abdullah, Stephen J. Bush, Katherine A. Wood, Sahar Ghaffari, Eleni Giannoulatou, Nils Koelling, Geoffrey J. Maher, Loïc M. Thibaut, Jonathan Williams, Edward M. Blair, Fiona Blanco Kelly, Angela Bloss, Emma Burkitt-Wright, Natalie Canham, Alexander T. Deng, Abhijit Dixit, Jacqueline Eason, Frances Elmslie, Alice Gardham, Eleanor Hay, Muriel Holder, Tessa Homfray, Jane A. Hurst, Diana Johnson, Wendy D. Jones, Usha Kini, Emma Kivuva, Ajith Kumar, Melissa M. Lees, Harry G. Leitch, Jenny E. V. Morton, Andrea H. Németh, Shwetha Ramachandrappa, Katherine Saunders, Deborah J. Shears, Lucy Side, Miranda Splitt, Alison Stewart, Helen Stewart, Mohnish Suri, Penny Clouston, Robert W. Davies, Andrew O. M. Wilkie, Anne Goriely
Published 2023-02-01