PaulMarkMD

PubMed

• Heterozygous loss-of-function variants in DOCK4 cause neurodevelopmental delay and microcephaly.
  Charlotte Herbst, Viktoria Bothe, Meret Wegler, Susanne Axer-Schaefer, Séverine Audebert-Bellanger, Jozef Gecz, Benjamin Cogne, Hagit Baris Feldman, Anselm H C Horn, A...> ;Human Genetics. 2024 Mar 25
• Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders.
  Agrawal, P. B., Carolina Gracia-Diaz, Yijing Zhou, Qian Yang, Reza Maroofian, Paula Espana-Bonilla, Chul-Hwan Lee, Shuo Zhang, Natàlia Padilla, Raquel Fueyo, Elisa A W...> ;Nature Communications. 2023 Jul 11
• 3 citations
  Viewing teratogens through the lens of nicotinamide adenine dinucleotide (NAD+).
  Paul R Mark, Sally L Dunwoodie> ;Birth Defects Research. 2022 Dec 1
• 1 citations
  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, Di Lu, Jacob Zieba, Surender Rajasekaran, Elizabeth A VanSickle, Linda Z Rossetti, Lucia Guidugli, ...> ;Cold Spring Harbor Molecular Case Studies. 2022 Oct 1
• 6 citations
  Gain-of-function mutations in KCNK3 cause a developmental disorder with sleep apnea.
  Janina Sörmann, Marcus Schewe, Peter Proks, Thibault Jouen-Tachoire, Shanlin Rao, Elena B Riel, Katherine E Agre, Amber Begtrup, John Dean, Maria Descartes, Jan Fische...> ;Nature Genetics. 2022 Oct 1
• 11 citations
  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, Wendy K Chung, Michael C Kruer, Mira Kharbanda, David J Amor, George McGillivray, J...> ;Genetics in Medicine. 2022 Nov 1
• 4 citations
  NAD+ deficiency in human congenital malformations and miscarriage: A new model of pleiotropy.
  Paul R Mark> ;American Journal of Medical Genetics. Part A. 2022 Sep 1
• 3 citations
  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, Marte Haug, Ian Hayes, Purificacion Marin-Reina, Paul R Mark, Francisco Martinez-Castell...> ;Clinical Genetics. 2022 Sep 1
• 2 citations
  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, Nicole de Leeuw, Laura Roht, Sander Pajusalu, Reelika Part, Ionella Rebane, ...> ;American Journal of Human Genetics. 2021 Nov 4
• 14 citations
  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, Nicole de Leeuw, Laura Roht, Sander Pajusalu, Reelika Part, Ionella Rebane, ...> ;American Journal of Human Genetics. 2021 Sep 2
• 36 citations
  Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome
  Margot A. Cousin, Blake A Creighton, Keith A. Breau, Rebecca C. Spillmann, Erin Torti, Sruthi Dontu, Swarnendu Tripathi, Deepa Ajit, Reginald James Edwards, Simone Afr...> ;Nature Genetics. 2021 Jul 1
• 19 citations
  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 Bağış Erdem, Zeynep Coban Akdemir, Ender Karaca, Tadahiro Mitani, Dana Marafi, Jawid ...> ;Genetics in Medicine. 2021 May 30
• 5 citations
  Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities.
  Fuad Chowdhury, Lei Wang, Mohammed Al-raqad, David J. Amor, A. Baxova, Sarka Bendova, Elisa Biamino, Alfredo Brusco, Oana Caluseriu, Nancy J. Cox, Tawfiq Froukh, Meral...> ;Genetics in Medicine. 2021 Apr 6
• 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> ;Cardiology in the Young. 2021 Mar 5
• Lethal renal anomalies in a fetus with 21q22.11‐q22.12 deletion
  Kathleen Dinh, Paul R. Mark> ;American Journal of Medical Genetics. Part A. 2020 Sep 18
• 5 citations
  SLC6A1 G443D associated with developmental delay and epilepsy.
  Seth Devries, Monica Mulder, Jacob G Charron, Jeremy W. Prokop, Paul R. Mark> ;Cold Spring Harbor Molecular Case Studies. 2020 Aug 25
• 1 citations
  Missense variants in TAF1 and developmental phenotypes: Challenges of determining pathogenicity (vol 41, pg 449, 2020)
  Hanyin Cheng, Simona Capponi, Emma Wakeling, Elaine Marchi, Quan Li, Mengge Zhao, Chunhua Weng, Piatek G. Stefan, Helena Ahlfors, Robert Kleyner, Alan F. Rope, Aimé Lu...> ;Human Mutation. 2020 May 1
• 5 citations
  Expanding the genotypic spectrum of Jalili syndrome: Novel CNNM4 variants and uniparental isodisomy in a north American patient cohort.
  Lev Prasov, Ehsan Ullah, Amy Turriff, Blake M. Warner, Julie Conley, Paul R. Mark, Robert B. Hufnagel, Laryssa A. Huryn> ;American Journal of Medical Genetics. Part A. 2020 Feb 5
• 18 citations
  Missense variants in TAF1 and developmental phenotypes: challenges of determining pathogenicity
  Hanyin Cheng, Simona Capponi, Emma Wakeling, Elaine Marchi, Quan Li, Mengge Zhao, Chunhua Weng, Piatek G. Stefan, Helena Ahlfors, Robert Kleyner, Alan F. Rope, Aimé Lu...> ;Human Mutation. 2020 Feb 1
• 15 citations
  Biallelic variants in CTU2 cause DREAM-PL syndrome and impair thiolation of tRNA wobble U34.
  Ranad Shaheen, Paul R. Mark, Christopher T Prevost, Adila Al-Kindi, Ahmad Alhag, Fatima Estwani, Tarfa Al-Sheddi, Eman Alobeid, Mona M. Alenazi, Nour Ewida, Niema Ibra...> ;Human Mutation. 2019 Nov 1
• 13 citations
  HIST1H1E heterozygous protein-truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIS...
  , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , > ;American Journal of Medical Genetics. Part A. 2019 Aug 9
• 57 citations
  Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome
  Eric G. Bend, Erfan Aref-Eshghi, David B. Everman, R. Curtis Rogers, Sara S. Cathey, Eloise J. Prijoles, Michael J. Lyons, Heather Davis, Katie Clarkson, Karen W. Grip...> ;Clinical Epigenetics. 2019 Apr 27
• 21 citations
  Clinical spectrum of BCS1L Mitopathies and their underlying structural relationships.
  Rachael Baker, Jessica R. C. Priestley, Amy M. Wilstermann, Kalina J. Reese, Paul R. Mark> ;American Journal of Medical Genetics. Part A. 2019 Mar 1
• 19 citations
  Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature.
  Erin Torti, Boris Keren, Elizabeth E. Palmer, Zehua Zhu, Alexandra Afenjar, Ilse J. Anderson, Marisa V. Andrews, Celia Atkinson, Margaret G. Au, Susan A. Berry, Kevin ...> ;Genetics in Medicine. 2019 Feb 11
• 34 citations
  Mutation update for the SATB2 gene
  Yuri A. Zarate, Katherine A. Bosanko, Aisling R. Caffrey, Jonathan A. Bernstein, Donna M. Martin, Marc S. Williams, Elizabeth Berry-Kravis, Paul R. Mark, Melanie A. Ma...> ;Human Mutation. 2019 Jan 1
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Journal Articles

• Severe Neurocognitive and Growth Disorders Due to Variation in THOC2, an Essential Component of Nuclear mRNA Export Machinery  
  Gretchen Parsons, Gail E Herman, Heather Mefford, Paul Mark, Human Mutation