Paul R Mark
6PUBLICATIONS
41CO-AUTHORS
Get your video featured.
Publish with JoVEGet your video featured.
Publish with JoVE
Publications (6)
Sort by Publication Date:
|Mar 19, 2026
A three generation family with VACTERL association is found to have a rare form of diamond-blackfan anaemia.Iryna Leshchynska, Debjani Das, Victoria O'Reilly
|Jul 11, 2023
Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders.Carolina Gracia-Diaz, Yijing Zhou, Qian Yang
|Dec 01, 2022
Viewing teratogens through the lens of nicotinamide adenine dinucleotide (NAD+).Paul R Mark, Sally L Dunwoodie
|Oct 04, 2022
Gain-of-function mutations in KCNK3 cause a developmental disorder with sleep apnea.Janina Sörmann, Marcus Schewe, Peter Proks
|Apr 29, 2022
NAD+ deficiency in human congenital malformations and miscarriage: A new model of pleiotropy.Paul R Mark
|Sep 18, 2020
Lethal renal anomalies in a fetus with 21q22.11-q22.12 deletion.Kathleen Dinh, Paul R Mark
Pageof 1
Frequent Collaborators
2 joint publications
Sally L Dunwoodie
1 joint publications
Carolina Gracia-Diaz
1 joint publications
Qian Yang
1 joint publications
Paula Espana-Bonilla
1 joint publications
Natàlia Padilla
1 joint publications
Elisa A Waxman
1 joint publications
Dong Li
1 joint publications
Hakon Hakonarson
1 joint publications
Pradeep Vasudevan
1 joint publications
Stephanie Efthymiou
