Matthew A Deardorff

Publication Activity (10 Years)

Years Active: 2016-2021
Publications (10 Years): 4

Top Topics

Congenital Heart Disease

Pulmonary Embolism

Top Venues

Science advances

European journal of human genetics : EJHG

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

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

Publications

Dong Li, Qin Wang, Naihua N Gong, Alina Kurolap, Hagit Baris Feldman, Nikolas Boy, Melanie Brugger, Katheryn Lynn Grand, Kirsty McWalter, Maria J Guillen Sacoto, Emma L Wakeling, Jane Hurst, Michael E March, Elizabeth Joyce Bhoj, Małgorzata J M Nowaczyk, Claudia Gonzaga-Jauregui, Mariam Mathew, Ashita Dava-Wala, Amy Siemon, Dennis Bartholomew, Yue Huang, Hane Lee, Julian A Martinez, Eva Maria Christina Schwaibold, Theresa Brunet, Daniela Choukair, Lynn S Pais, Susan M White, John Chrisodoulou, Dana Brown, Kristin Lindstrom, Theresa Grebe, Dov Tiosano, Matthew S Kayser, Tiong Yang Tan, Matthew A Deardorff, Yuanquan Song, Hakon H Hakonarson
Pathogenic variants in SMARCA5, a chromatin remodeler, cause a range of syndromic neurodevelopmental features. Science advances 7 (20) (2021)
Naihua N Gong, Leela Chakravarti Dilley, Charlette E Williams, Emilia H Moscato, Milan Szuperak, Qin Wang, Matthew Jensen, Santhosh Girirajan, Tiong Yang Tan, Matthew A Deardorff, Dong Li, Yuanquan Song, Matthew S Kayser
The chromatin remodeler ISWI acts during Drosophila development to regulate adult sleep. Science advances 7 (8) (2021)
Chao Wu, Batsal Devkota, Perry Evans, Xiaonan Zhao, Samuel W Baker, Rojeen Niazi, Kajia Cao, Michael A Gonzalez, Pushkala Jayaraman, Laura K Conlin, Bryan L Krock, Matthew A Deardorff, Nancy B Spinner, Ian D Krantz, Avni B Santani, Ahmad N Abou Tayoun, Mahdi Sarmady
Rapid and accurate interpretation of clinical exomes using Phenoxome: a computational phenotype-driven approach. European journal of human genetics : EJHG 27 (4) (2019)
Elizabeth Joyce Bhoj, Zhenming Yu, Qiaoning Guan, Rebecca Ahrens-Nicklas, Kajia Cao, Minjie Luo, Tanya Tischler, Matthew A Deardorff, Elaine Zackai, Avni B Santani
Phenotypic predictors and final diagnoses in patients referred for RASopathy testing by targeted next-generation sequencing. Genetics in medicine : official journal of the American College of Medical Genetics 19 (6) (2016)