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Paul R Mark

6PUBLICATIONS
41CO-AUTHORS
NeurogeneticsMolecular targetsNeurology and neuromuscular diseasesCancer geneticsNeonatology
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Publications (6)

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|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

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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

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

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