Study of transcriptional effects in Cis at the IFIH1 locus.

by Hana Zouk, Luc Marchand, Constantin Polychronakos
Published 2010-07-01

P677: Evolving from case counts to case-controls data: Updated PS4 recommendations from ClinGen’s Cardiomyopathy Variant Curation Expert Panel

by Melissa Kelly, Hana Zouk, James Ware, Birgit Funke, Kate Thomson
Published 2024-01-01

P064: Returning genomic risk for hereditary breast and ovarian cancer: Clinical outcomes through standard of care vs research return of results*

by Ilham Abbasi, Emma Perez, Hana Zouk, Matthew Lebo, Robert Green, Nina Gold
Published 2024-01-01

Retrospective Analysis of Clinical Genetic Testing in Pediatric Primary Dilated Cardiomyopathy: Testing Outcomes and the Effects of Variant Reclassification

by Daniel Quiat, Leora Witkowski, Hana Zouk, Kevin P. Daly, Amy E. Roberts
Published 2020-06-01

P017: Phenotypes of adults with MPS1 pseudodeficiency variants: Questioning the need to report in newborns

by Lauren O'Grady, Nina Gold, Amel Karaa, Hana Zouk, Wei He, Emilie Zoltick, Inderneel Sahai, Emma Perez, Robert Green
Published 2024-01-01

P517: An automated approach to report drafting for newborn genomic sequencing in the BabySeq Project

by Anna Nagy, Eugene Mysen, Chungming Glendy Sun, Lisa Mahanta, Bethany Zettler, Alan Beggs, Ingrid Holm, Robert Green, Matthew Lebo, Hana Zouk
Published 2023-01-01

Phenotypes of undiagnosed adults with actionable OTC and GLA variants

by Jessica I. Gold, Sarina Madhavan, Joseph Park, Hana Zouk, Emma Perez, Alanna Strong, Theodore G. Drivas, Amel Karaa, Marc Yudkoff, Daniel Rader, Robert C. Green, Nina B. Gold
Published 2023-10-01

Unique Variant Spectrum in a Jordanian Cohort with Inherited Retinal Dystrophies

by Bilal Azab, Zain Dardas, Dunia Aburizeg, Muawyah Al-Bdour, Mohammed Abu-Ameerh, Tareq Saleh, Raghda Barham, Ranad Maswadi, Nidaa A Ababneh, Mohammad Alsalem, Hana Zouk, Sami Amr, Abdalla Awidi
Published 2021-04-01

Genetic sex validation for sample tracking in next-generation sequencing clinical testing

by Jianhong Hu, Viktoriya Korchina, Hana Zouk, Maegan V. Harden, David Murdock, Alyssa Macbeth, Steven M. Harrison, Niall Lennon, Christie Kovar, Adithya Balasubramanian, Lan Zhang, Gauthami Chandanavelli, Divya Pasham, Robb Rowley, Ken Wiley, Maureen E. Smith, Adam Gordon, Gail P. Jarvik, Patrick Sleiman, Melissa A. Kelly, Harris T. Bland, Mullai Murugan, Eric Venner, Eric Boerwinkle, the eMERGE III consortium, Cynthia Prows, Lisa Mahanta, Heidi L. Rehm, Richard A. Gibbs, Donna M. Muzny
Published 2024-03-01