Ping Yee Billie Au (Ping-Yee B Au, P Y Billie Au)

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 7

Top Topics

Traumatic Brain Injury

African American

Intellectual Disability

Dna Methylation

Top Venues

American journal of medical genetics. Part A

Journal of neurophysiology

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

Publications

Mark Ainsley Colijn, Stephanie Vrijsen, Ping Yee Billie Au, Rania Abou El Asrar, Marine Houdou, Chris Van den Haute, Justyna Sarna, Greg Montgomery, Peter Vangheluwe
Kufor-Rakeb syndrome-associated psychosis: a novel loss-of-function ATP13A2 variant and response to antipsychotic therapy. Neurogenetics (2024)
Paul W Chrystal, Nils J Lambacher, Lance P Doucette, James Bellingham, Elena R Schiff, Nicole C L Noel, Chunmei Li, Sofia Tsiropoulou, Geoffrey A Casey, Yi Zhai, Nathan J Nadolski, Mohammed H Majumder, Julia Tagoe, Fabiana D'Esposito, Maria Francesca Cordeiro, Susan Downes, Jill Clayton-Smith, Jamie M Ellingford, null null, Omar A Mahroo, Jennifer C Hocking, Michael E Cheetham, Andrew R Webster, Gert Jansen, Oliver E Blacque, W Ted Allison, Ping Yee Billie Au, Ian M MacDonald, Gavin Arno, Michel R Leroux
The inner junction protein CFAP20 functions in motile and non-motile cilia and is critical for vision. Nature communications 13 (1) (2022)
Xiao-Ru Yang, Vamsi Krishna Murthy Ginjupalli, Olivier Theriault, Hugo Poulin, Juan Pablo Appendino, Ping Yee Billie Au, Mohamed Chahine
SCN2A -related epilepsy of infancy with migrating focal seizures: report of a variant with apparent gain- and loss-of-function effects. Journal of neurophysiology 127 (5) (2022)
Vincenzo Salpietro, Valentina Galassi Deforie, Stephanie Efthymiou, Emer O'Connor, Anna Marcé-Grau, Reza Maroofian, Pasquale Striano, Federico Zara, Michelle M Morrow, null null, Adi Reich, Amy Blevins, Júlia Sala-Coromina, Andrea Accogli, Sara Fortuna, Marie Alesandrini, Ping Yee Billie Au, Nilika Shah Singhal, Benjamin Cogne, Bertrand Isidor, Michael G Hanna, Alfons Macaya, Dimitri Michael Kullmann, Henry Houlden, Roope Mannikko
De novo KCNA6 variants with attenuated K V 1.6 channel deactivation in patients with epilepsy. Epilepsia (2022)
Ilaria Parenti, Daphne Lehalle, Caroline Nava, Erin Torti, Elsa Leitão, Richard Person, Takeshi Mizuguchi, Naomichi Matsumoto, Mitsuhiro Kato, Kazuyuki Nakamura, Stella A de Man, Heidi Cope, Vandana Shashi, null null, Jennifer Friedman, Pascal Joset, Katharina Steindl, Anita Rauch, Irena Muffels, Peter M van Hasselt, Florence Petit, Thomas Smol, Gwenaël Le Guyader, Frederic Bilan, Arthur Sorlin, Antonio Vitobello, Christophe Philippe, Ingrid M B H van de Laar, Marjon A van Slegtenhorst, Philippe M Campeau, Ping Yee Billie Au, Mitsuko Nakashima, Hirotomo Saitsu, Tatsuya Yamamoto, Yumiko Nomura, Raymond J Louie, Michael J Lyons, Amy Dobson, Astrid S Plomp, M Mahdi Motazacker, Frank J Kaiser, Andrew T Timberlake, Sabine A Fuchs, Christel Depienne, Mignot Cyril
Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy. Human genetics 140 (7) (2021)
Rani A Bashir, Abhijit Dixit, Caitlin Goedhart, Jillian S Parboosingh, Allan M Innes, null null, Patrick Ferreira, Shabih U Hasan, Ping Yee Billie Au
Cover Image, Volume 173A, Number 10, October 2017. American journal of medical genetics. Part A 173 (10) (2018)
Rani A Bashir, Abhijit Dixit, Caitlin Goedhart, Jillian S Parboosingh, Allan M Innes, null null, Patrick Ferreira, Shabih U Hasan, Ping Yee Billie Au
Lin-Gettig syndrome: Craniosynostosis expands the spectrum of the KAT6B related disorders. American journal of medical genetics. Part A 173 (10) (2017)