P295: Episodic irritability in an ultra-rare genetic disorder associated with NACC1: Imperative to increase awareness and formulate better therapeutic interventions

by Kelly Schoch, Allyn McConkie-Rosell, Nicole Walley, Vikas Bhambhani, Timothy Feyma, Edward Smith, Khoon Ghee Queenie Tan, Vandana Shashi
Published 2023-01-01

High performing male with fragile X syndrome with an unmethylated FMR1 full mutation: The relevance of clinical and genetic correlations

by Meg Shieh, Keren Amkraut, Gail A. Spiridigliozzi, Tatyana Adayev, Kaylea Nicholson, Allyn McConkie‐Rosell, Marie McDonald, Malinda Pennington, Siby Sebastian, Ave M. Lachiewicz
Published 2023-06-01

Parental perspectives of episodic irritability in an ultra-rare genetic disorder associated with NACC1

by Kelly Schoch, Allyn McConkie-Rosell, Nicole Walley, Vikas Bhambhani, Timothy Feyma, Undiagnosed Diseases Network, Carolyn E. Pizoli, Edward C. Smith, Queenie K.-G. Tan, Vandana Shashi
Published 2023-09-01

A window into living with an undiagnosed disease: illness narratives from the Undiagnosed Diseases Network

by Rebecca C. Spillmann, Allyn McConkie-Rosell, Loren Pena, Yong-Hui Jiang, Undiagnosed Diseases Network, Kelly Schoch, Nicole Walley, Camilla Sanders, Jennifer Sullivan, Stephen R. Hooper, Vandana Shashi
Published 2017-04-01

Characteristics of undiagnosed diseases network applicants: implications for referring providers

by Nicole M. Walley, Loren D. M. Pena, Stephen R. Hooper, Heidi Cope, Yong-Hui Jiang, Allyn McConkie-Rosell, Camilla Sanders, Kelly Schoch, Rebecca C. Spillmann, Kimberly Strong, Alexa T. McCray, Paul Mazur, Cecilia Esteves, Kimberly LeBlanc, Undiagnosed Diseases Network, Anastasia L. Wise, Vandana Shashi
Published 2018-08-01

Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability

by Chaofan Zhang, Angad Jolly, Brian J. Shayota, Juliana F. Mazzeu, Haowei Du, Moez Dawood, Patricia Celestino Soper, Ariadne Ramalho de Lima, Bárbara Merfort Ferreira, Zeynep Coban-Akdemir, Janson White, Deborah Shears, Fraser Robert Thomson, Sarah Louise Douglas, Andrew Wainwright, Kathryn Bailey, Paul Wordsworth, Mike Oldridge, Tracy Lester, Alistair D. Calder, Katja Dumic, Siddharth Banka, Dian Donnai, Shalini N. Jhangiani, Lorraine Potocki, Wendy K. Chung, Sara Mora, Hope Northrup, Myla Ashfaq, Jill A. Rosenfeld, Kati Mason, Lynda C. Pollack, Allyn McConkie-Rosell, Wei Kelly, Marie McDonald, Natalie S. Hauser, Peter Leahy, Cynthia M. Powell, Raquel Boy, Rachel Sayuri Honjo, Fernando Kok, Lucia R. Martelli, Vicente Odone Filho, Genomics England Research Consortium, Donna M. Muzny, Richard A. Gibbs, Jennifer E. Posey, Pengfei Liu, James R. Lupski, V. Reid Sutton, Claudia M.B. Carvalho
Published 2022-01-01

Germline AGO2 mutations impair RNA interference and human neurological development

by Davor Lessel, Daniela M. Zeitler, Margot R. F. Reijnders, Andriy Kazantsev, Fatemeh Hassani Nia, Alexander Bartholomäus, Victoria Martens, Astrid Bruckmann, Veronika Graus, Allyn McConkie-Rosell, Marie McDonald, Bernarda Lozic, Ee-Shien Tan, Erica Gerkes, Jessika Johannsen, Jonas Denecke, Aida Telegrafi, Evelien Zonneveld-Huijssoon, Henny H. Lemmink, Breana W. M. Cham, Tanja Kovacevic, Linda Ramsdell, Kimberly Foss, Diana Le Duc, Diana Mitter, Steffen Syrbe, Andreas Merkenschlager, Margje Sinnema, Bianca Panis, Joanna Lazier, Matthew Osmond, Taila Hartley, Jeremie Mortreux, Tiffany Busa, Chantal Missirian, Pankaj Prasun, Sabine Lüttgen, Ilaria Mannucci, Ivana Lessel, Claudia Schob, Stefan Kindler, John Pappas, Rachel Rabin, Marjolein Willemsen, Thatjana Gardeitchik, Katharina Löhner, Patrick Rump, Kerith-Rae Dias, Carey-Anne Evans, Peter Ian Andrews, Tony Roscioli, Han G. Brunner, Chieko Chijiwa, M. E. Suzanne Lewis, Rami Abou Jamra, David A. Dyment, Kym M. Boycott, Alexander P. A. Stegmann, Christian Kubisch, Ene-Choo Tan, Ghayda M. Mirzaa, Kirsty McWalter, Tjitske Kleefstra, Rolph Pfundt, Zoya Ignatova, Gunter Meister, Hans-Jürgen Kreienkamp
Published 2020-11-01