Avni Santani

Publication Activity (10 Years)

Years Active: 2016-2019
Publications (10 Years): 4

Top Topics

High Throughput Sequencing

Single Molecule

Top Venues

Genetics in medicine : official journal of the American College of Medical Genetics

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

Publications

Karin Weiss, Hayley P Lazar, Alina Kurolap, Ariel F Martinez, Tamar Paperna, Lior Cohen, Marie F Smeland, Sandra Whalen, Solveig Heide, Boris Keren, Pauline Terhal, Melita Irving, Motoki Takaku, John D Roberts, Robert M Petrovich, Samantha A Schrier Vergano, Amy Kenney, Hanne Hove, Elizabeth DeChene, Shane C Quinonez, Estelle Colin, Alban Ziegler, Melissa Rumple, Mahim Jain, Danielle C Monteil, Elizabeth R Roeder, Kimberly Nugent, Arie van Haeringen, Michael Gambello, Avni Santani, Līvija Medne, Bryan Krock, Cara M Skraban, Elaine H Zackai, Holly A Dubbs, Thomas Smol, Jamal Ghoumid, Michael J Parker, Michael Wright, Peter D Turnpenny, Jill Clayton-Smith, Kay Metcalfe, Hitoshi Kurumizaka, Bruce D Gelb, Hagit Baris Feldman, Philippe M Campeau, Maximilian Muenke, Paul A Wade, Katherine Lachlan
The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis. Genetics in medicine : official journal of the American College of Medical Genetics 22 (2) (2019)
Tara L Wenger, John Dahl, Elizabeth J Bhoj, Anna Rosen, Donna McDonald-McGinn, Elaine Zackai, Ian Jacobs, Carrie L Heike, Anne Hing, Avni Santani, Andrew F Inglis, Kathleen C Y Sie, Michael Cunningham, Jonathan Perkins
Tracheal cartilaginous sleeves in children with syndromic craniosynostosis. Genetics in medicine : official journal of the American College of Medical Genetics 19 (1) (2016)
Diana L Mandelker, Ryan J Schmidt, Arunkanth Ankala, Kristin McDonald Gibson, Mark Bowser, Himanshu Sharma, Elizabeth D Hynes, Madhuri Hegde, Avni Santani, Matthew S Lebo, Birgit Funke
Navigating highly homologous genes in a molecular diagnostic setting: a resource for clinical next-generation sequencing. Genetics in medicine : official journal of the American College of Medical Genetics 18 (12) (2016)
Julianne M O'Daniel, Heather M McLaughlin, Laura M Amendola, Sherri J Bale, Jonathan S Berg, David Bick, Kevin M Bowling, Elizabeth C Chao, Wendy K Chung, Laura K Conlin, Gregory M Cooper, Soma Das, Joshua L Deignan, Michael O Dorschner, James P Evans, Arezou A Ghazani, Katrina A B Goddard, Michele C Gornick, Kelly D F Hagman, Tina Hambuch, Madhuri Hegde, Lucia A Hindorff, Ingrid A Holm, Gail P Jarvik, Amy Knight Johnson, Lindsey Mighion, Massimo Morra, Sharon E Plon, Sumit Punj, Carolyn Sue Richards, Avni Santani, Brian H Shirts, Nancy B Spinner, Sha Tang, Karen E Weck, Susan M Wolf, Yaping Yang, Michael J Bamshad
A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories. Genetics in medicine : official journal of the American College of Medical Genetics 19 (5) (2016)