Lynn S Pais (Lynn Pais)

Publication Activity (10 Years)

Years Active: 2022-2024
Publications (10 Years): 5

Top Topics

Intellectual Disability

Duchenne Muscular Dystrophy

Top Venues

medRxiv : the preprint server for health sciences

This page only lists publications with an associated author ORCID identifier.

Publications

Clara Houdayer, A Marie Phillips, Marie Chabbert, Jennifer Bourreau, Reza Maroofian, Henry Houlden, Kay Richards, Nebal Waill Saadi, Eliška Dad'ová, Patrick Van Bogaert, Mailys Rupin, Boris Keren, Perrine Charles, Thomas Smol, Audrey Riquet, Lynn S Pais, Anne H O'Donnell-Luria, Grace E VanNoy, Allan Bayat, Rikke Steensjerre Moller, Kern Olofsson, Rami Abou Jamra, Steffen Syrbe, Majed Dasouki, Laurie H Seaver, Jennifer A Sullivan, Vandana Shashi, Fowzan Sami Alkuraya, Alexis F Poss, J Edward Spence, Rhonda E Schnur, Ian C Forster, Chaseley E McKenzie, Cas Simons, Min Wang, Penny Snell, Russell C Dale, Michael Buckley, Tony Roscioli, Noha Elserafy, Benjamin Dauriat, Vincent Procaccio, Henrion Daniel, Guy Lenaers, Estelle Colin, Nienke E Verbeek, Koen L Van Gassen, Claire Legendre, Dominique Bonneau, Christopher A Reid, Katherine B Howell, Alban Ziegler, Christian Legros
Mono and biallelic variants in HCN2 cause severe neurodevelopmental disorders. medRxiv : the preprint server for health sciences (2024)
Marina Villamor-Payà, María Sanchiz-Calvo, Jordann Smak, Lynn S Pais, Malika Sud, Uma T Shankavaram, Alysia Kern Lovgren, Christina A Austin-Tse, Vijay S Ganesh, Marina Gay, Marta Vilaseca, Gianluca Arauz-Garofalo, Lluís Palenzuela, Grace E VanNoy, Anne H O'Donnell-Luria, Travis H Stracker
Identification of a de novo mutation in TLK1 associated with a neurodevelopmental disorder and immunodeficiency. medRxiv : the preprint server for health sciences (2023)
Sarah L Stenton, Melanie O'Leary, Gabrielle T Lemire, Grace E VanNoy, Stephanie DiTroia, Vijay S Ganesh, Emily Groopman, Emily O'Heir, Brian Mangilog, Ikeoluwa Osei-Owusu, Lynn S Pais, Jillian G Serrano, Moriel H Singer-Berk, Ben Weisburd, Michael Wilson, Christina Austin-Tse, Marwa Abdelhakim, Azza Thamer Althagafi, Giulia Babbi, Riccardo Bellazzi, Samuele Bovo, Maria Giulia Carta, Rita Casadio, Pieter-Jan Coenen, Federica De Paoli, Matteo Floris, Manavalan Gajapathy, Hoehndorf Robert, Julius O B Jacobsen, Thomas Joseph, Akash Kamandula, Panagiostis Katsonis, Cyrielle Kint, Olivier Lichtarge, Ivan Limongelli, Yulan Lu, Paolo Magni, Tarun Karthik Kumar Mamidi, Pier Luigi Martelli, Marta Mulargia, Giovanna Nicora, Keith Nykamp, Vikas Pejaver, Yisu Peng, Thi Hong Cam Pham, Maurizio S Podda, Aditya Rao, Ettore Rizzo, Vangala G Saipradeep, Castrense Savojardo, Peter Schols, Yang Shen, Naveen Sivadasan, Damian Smedley, Dorian Soru, Rajgopal Srinivasan, Yuanfei Sun, Uma Sunderam, Wuwei Tan, Naina Tiwari, Xiao Wang, Yaqiong Wang, Amanda Williams, Elizabeth A Worthey, Rujie Yin, Yuning You, Daniel Zeiberg, Susanna Zucca, Constantina Bakolitsa, Steven E Brenner, Stephanie Malia Fullerton, Predrag Radivojac, Michael J Bamshad, Anne H O'Donnell-Luria
Critical assessment of variant prioritization methods for rare disease diagnosis within the Rare Genomes Project. medRxiv : the preprint server for health sciences (2023)
Daniel Natera-de Benito, Julie A Jurgens, Alison Yeung, Irina T Zaharieva, Adnan Manzur, Stephanie P DiTroia, Silvio Alessandro Di Gioia, Lynn S Pais, Veronica Pini, Brenda J Barry, Wai-Man Chan, James E Elder, John Chrisodoulou, Eleanor Hay, Eleina M England, Pinki Munot, David G Hunter, Lucy Feng, Danielle Ledoux, Anne H O'Donnell-Luria, Rahul Phadke, Elizabeth C Engle, Anna Sarkozy, Francesco Muntoni
Recessive variants in COL25A1 gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial dysinnervation disorder. Human mutation 43 (4) (2022)
Lynn S Pais, Hana Snow, Ben Weisburd, Shifa Zhang, Samantha M Baxter, Stephanie DiTroia, Emily O'Heir, Eleina England, Katherine R Chao, Gabrielle Lemire, Ikeoluwa Osei-Owusu, Grace E VanNoy, Michael Wilson, Kevin Nguyen, Harindra Arachchi, William Phu, Matthew Solomonson, Stacy Mano, Melanie O'Leary, Alysia Lovgren, Lawrence Babb, Christina A Austin-Tse, Michael J Bamshad, Daniel G MacArthur, Anne H O'Donnell-Luria
seqr: A web-based analysis and collaboration tool for rare disease genomics. Human mutation 43 (6) (2022)