Hillary M Porter

Years Active: 2021-2022
Publications (10 Years): 2

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

Publications

Sheng-Jia Lin, Barbara Vona, Hillary M Porter, Mahmoud Izadi, Kevin Huang, Yves Lacassie, Jill Anne Rosenfeld, Saadullah Khan, Cassidy Petree, Tayyiba Akbar Ali, Nazif Muhammad, Sher Alam Khan, Noor Muhammad, Pengfei Liu, Marie-Louise Haymon, Franz Rüschendorf, Il-Keun Kong, Linda Schnapp, Natasha Shur, Lynn P Chorich, Lawrence C Layman, Thomas Haaf, Ehsan Pourkarimi, Hyung-Goo Kim, Guarav K Varshney
Biallelic variants in WARS1 cause a highly variable neurodevelopmental syndrome and implicate a critical exon for normal auditory function. Human mutation 43 (10) (2022)
Volkan Okur, Zefu Chen, Liesbeth Vossaert, Sandra Peacock, Jill Anne Rosenfeld, Lina Zhao, Haowei Du, Emily Calamaro, Amanda Gerard, Sen Zhao, Jill Kelsay, Ashley Lahr, Chloe Mighton, Hillary M Porter, Amy Siemon, Josh Silver, Shayna Svihovec, Chin-To Fong, Christina L Grant, Jordan Lerner-Ellis, Kandamurugu Manickam, Suneeta Madan-Khetarpal, Shawn E McCandless, Chantal F Morel, G Bradley Schaefer, Elizabeth M Berry-Kravis, Ryan Gates, Natalia Gomez-Ospina, Guixing Qiu, Terry Jianguo Zhang, Zhihong Wu, Linyan Meng, Pengfei Liu, Daryl A Scott, James R. Lupski, Christine M Eng, Nan Wu, Bo Yuan
De novo variants in H3-3A and H3-3B are associated with neurodevelopmental delay, dysmorphic features, and structural brain abnormalities. NPJ genomic medicine 6 (1) (2021)

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