David R Murdock

Publication Activity (10 Years)

Years Active: 2022-2024
Publications (10 Years): 6

Top Topics

Congenital Heart Disease

Long Noncoding Rna

Genome Wide Identification

Pulmonary Arterial Hypertension

Top Venues

medRxiv : the preprint server for health sciences

Clinical genetics

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

Publications

Vijay S Ganesh, Kevin Riquin, Nicolas Chatron, Kay-Marie Lamar, Miriam C Aziz, Pauline Monin, Melanie O'Leary, Julia K Goodrich, Kiran V Garimella, Eleina England, Esther S Yoon, Ben Weisburd, François Aguet, Carlos A Bacino, David R Murdock, Hongzheng Dai, Jill Anne Rosenfeld, Lisa T Emrick, Shamika Ketkar, null null, Yael Sarusi, Damien Sanlaville, Saima Kayani, Brian Broadbent, Bertrand Isidor, Alisée Pengam, Benjamin Cogné, Daniel G MacArthur, Igor Ulitsky, Gemma Louise Carvill, Anne H O'Donnell-Luria
Novel syndromic neurodevelopmental disorder caused by de novo deletion of CHASERR , a long noncoding RNA. medRxiv : the preprint server for health sciences (2024)
Vijay S Ganesh, Kevin Riquin, Nicolas Chatron, Kay-Marie Lamar, Miriam C Aziz, Pauline Monin, Melanie O'Leary, Julia K Goodrich, Kiran V Garimella, Eleina England, Esther S Yoon, Ben Weisburd, François Aguet, Carlos A Bacino, David R Murdock, Hongzheng Dai, Jill Anne Rosenfeld, Lisa T Emrick, Shamika Ketkar, null null, Yael Sarusi, Damien Sanlaville, Saima Kayani, Brian Broadbent, Bertrand Isidor, Alisée Pengam, Benjamin Cogné, Daniel G MacArthur, Igor Ulitsky, Gemma Louise Carvill, Anne H O'Donnell-Luria
Novel syndromic neurodevelopmental disorder caused by de novo deletion of CHASERR , a long noncoding RNA. medRxiv : the preprint server for health sciences (2024)
Vijay S Ganesh, Kevin Riquin, Nicolas Chatron, Kay-Marie Lamar, Miriam C Aziz, Pauline Monin, Melanie O'Leary, Julia K Goodrich, Kiran V Garimella, Eleina England, Esther S Yoon, Ben Weisburd, François Aguet, Carlos A Bacino, David R Murdock, Hongzheng Dai, Jill Anne Rosenfeld, Lisa T Emrick, Shamika Ketkar, null null, Yael Sarusi, Damien Sanlaville, Saima Kayani, Brian Broadbent, Bertrand Isidor, Alisée Pengam, Benjamin Cogné, Daniel G MacArthur, Igor Ulitsky, Gemma Louise Carvill, Anne H O'Donnell-Luria
Novel syndromic neurodevelopmental disorder caused by de novo deletion of CHASERR , a long noncoding RNA. medRxiv : the preprint server for health sciences (2024)
Dong-Chuan Guo, Xueyan Duan, Kathleen Mimnagh, Alana C Cecchi, Isabella C Marin, Yang Yu, Walter V Torres, Kwanghyuk Lee, Xue Zhu, David R Murdock, Suzanne M Leal, Marsha M Wheeler, Josh Smith, Michael J Bamshad, Dianna M Milewicz
An FBN1 deep intronic variant is associated with pseudoexon formation and a variable Marfan phenotype in a five generation family. Clinical genetics (2023)
Dong-Chuan Guo, Xueyan Duan, Kathleen Mimnagh, Alana C Cecchi, Isabella C Marin, Yang Yu, Walter V Velasco, Kwanghyuk Lee, Xue Zhu, David R Murdock, Suzanne M Leal, Marsha M Wheeler, Josh Smith, Michael J Bamshad, Dianna M Milewicz
An FBN1 deep intronic variant is associated with pseudoexon formation and a variable Marfan phenotype in a five generation family. Clinical genetics (2023)
Varuna Chander, Medhat Mahmoud, Jianhong Hu, Zain Dardas, Christopher M Grochowski, Moez Dawood, Michael M Khayat, He Li, Shoudong Li, Shalini N. Jhangiani, Viktoriya Korchina, Hua Shen, George Weissenberger, Qingchang Meng, Marie-Claude Gingras, Donna M Muzny, Harsha Vardhan Doddapaneni, Jennifer E Posey, James R. Lupski, Aniko Sabo, David R Murdock, Fritz J Sedlazeck, Richard A Gibbs
Long read sequencing and expression studies of AHDC1 deletions in Xia-Gibbs syndrome reveal a novel genetic regulatory mechanism. Human mutation (2022)