Publications by authors named "Paul Mark"

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A zebrafish model of nicotinamide adenine dinucleotide (NAD) deficiency-derived congenital disorders.
Visakuo Tsurho, Carla Gilliland, Jessica Ensing, Elizabeth A VanSickle, Nathan J Lanning, Paul R Mark

Dev Biol· January 2026

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A zebrafish model of nicotinamide adenine dinucleotide (NAD) deficiency-derived congenital disorders.
Visakuo Tsurho, Carla Gilliland, Jessica Ensing, Elizabeth Vansickle, Nathan J Lanning, Paul R Mark

bioRxiv· January 2025

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Heterozygous loss-of-function variants in DOCK4 cause neurodevelopmental delay and microcephaly.
Charlotte Herbst, Viktoria Bothe, Meret Wegler, Susanne Axer-Schaefer, Séverine Audebert-Bellanger, Paul R Mark, Markus Morawski

Hum Genet· March 2024

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Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders.
Carolina Gracia-Diaz, Yijing Zhou, Qian Yang, Reza Maroofian, Paula Espana-Bonilla, Paul Mark

Nat Commun· July 2023

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Malay Version of Nijmegen Cochlear Implant Questionnaire and Quality of Life of Patients with Post-lingual Deafness.
Mark Paul, Asma Abdullah, Noor Dina Hashim, Nur Fadhilah Megat Ismail, Shamsul Azhar Shah

Medeni Med J· June 2023

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Viewing teratogens through the lens of nicotinamide adenine dinucleotide (NAD+).
Paul R Mark, Sally L Dunwoodie

Birth Defects Res· December 2022

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Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants.
Sayaka Kayumi, Luis A Pérez-Jurado, María Palomares, Sneha Rangu, Sarah E Sheppard, Paul R Mark, Mark J Hamilton, Mark A Corbett

Genet Med· November 2022

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Gain-of-function mutations in KCNK3 cause a developmental disorder with sleep apnea.
Janina Sörmann, Marcus Schewe, Peter Proks, Thibault Jouen-Tachoire, Shanlin Rao, Paul R Mark

Nat Genet· October 2022

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Autosomal recessive LRP1-related syndrome featuring cardiopulmonary dysfunction, bone dysmorphology, and corneal clouding.
Paul R Mark, Stephen A Murray, Tao Yang, Alexandra Eby, Angela Lai

Cold Spring Harb Mol Case Stud· October 2022

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NAD+ deficiency in human congenital malformations and miscarriage: A new model of pleiotropy.
Paul R Mark

Am J Med Genet A· September 2022

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Further characterization of Borjeson-Forssman-Lehmann syndrome in females due to de novo variants in PHF6.
Céline B Gerber, Anna Fliedner, Oliver Bartsch, Siren Berland, Malin Dewenter, Paul R Mark, Markus Zweier

Clin Genet· September 2022

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Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders.
Jacob R Stolz, Kendall M Foote, Hermine E Veenstra-Knol, Rolph Pfundt, Sanne W Ten Broeke, Paul R Mark

Am J Hum Genet· November 2021

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Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies.
Gabriel C Dworschak, Jaya Punetha, Jeshurun C Kalanithy, Enrico Mingardo, Haktan B Erdem, Paul R Mark

Genet Med· September 2021

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Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders.
Jacob R Stolz, Kendall M Foote, Hermine E Veenstra-Knol, Rolph Pfundt, Sanne W Ten Broeke, Paul R Mark

Am J Hum Genet· September 2021

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Two cases of different genetic variants of alveolar capillary dysplasia associated with left-sided obstructive CHDs.
Josue Diaz-Frias, Paul R Mark, E Oliver Aregullin

Cardiol Young· August 2021

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Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities.
Fuad Chowdhury, Lei Wang, Mohammed Al-Raqad, David J Amor, Alice Baxová, Paul R Mark

Genet Med· July 2021

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Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome.
Margot A Cousin, Blake A Creighton, Keith A Breau, Rebecca C Spillmann, Erin Torti, Paul Mark

Nat Genet· July 2021

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The Incidence of Nasopharyngeal Carcinoma in Pahang State of Malaysia from 2012 to 2017.
Azmir Ahmad, Wardah Mohd Yassin, Nor Azlina A Rahman, Wan Ishlah Leman, Luqman Rosla, Mark Paul

Malays J Med Sci· February 2021

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Nanomechanical Measurement of the Brownian Force Noise in a Viscous Liquid.
Atakan B Ari, M Selim Hanay, Mark R Paul, Kamil L Ekinci

Nano Lett· January 2021

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Lethal renal anomalies in a fetus with 21q22.11-q22.12 deletion.
Kathleen Dinh, Paul R Mark

Am J Med Genet A· December 2020

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SLC6A1 G443D associated with developmental delay and epilepsy.
Seth Devries, Monica Mulder, Jacob G Charron, Jeremy W Prokop, Paul R Mark

Cold Spring Harb Mol Case Stud· August 2020

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Expanding the genotypic spectrum of Jalili syndrome: Novel CNNM4 variants and uniparental isodisomy in a north American patient cohort.
Lev Prasov, Ehsan Ullah, Amy E Turriff, Blake M Warner, Julie Conley, Paul R Mark

Am J Med Genet A· March 2020

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HIST1H1E heterozygous protein-truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individuals.
Deepika D'Cunha Burkardt, Anna Zachariou, Chey Loveday, Clare L Allen, David J Amor, Paul Mark

Am J Med Genet A· October 2019

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Missense variants in TAF1 and developmental phenotypes: challenges of determining pathogenicity.
Hanyin Cheng, Simona Capponi, Emma Wakeling, Elaine Marchi, Quan Li, Paul R Mark

Hum Mutat· October 2019

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