Publications by authors named "Robin D Clark"

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Long-read sequencing is required for precision diagnosis of incontinentia pigmenti.
Monica H Wojcik, Robin D Clark, Abdallah F Elias, Casie A Genetti, Jill A Madden

HGG Adv· July 2025

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Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a severe developmental disorder spectrum.
Daniel G Calame, Jovi Huixin Wong, Puravi Panda, Dat Tuan Nguyen, Nancy C P Leong, Robin D Clark

Genet Med· January 2025

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Long-Read Sequencing is Required for Precision Diagnosis of Incontinentia Pigmenti.
Monica H Wojcik, Robin D Clark, Abdallah F Elias, Casie A Genetti, Jill A Madden

Res Sq· January 2025

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Biallelic variation in the choline and ethanolamine transporter underlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disorders.
Daniel G Calame, Jovi Huixin Wong, Puravi Panda, Dat Tuan Nguyen, Nancy C P Leong, Robin D Clark

medRxiv· February 2024

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PLS3 missense variants affecting the actin-binding domains cause X-linked congenital diaphragmatic hernia and body-wall defects.
Florence Petit, Mauro Longoni, Julie Wells, Richard S Maser, Eric L Bogenschutz, Robin D Clark

Am J Hum Genet· October 2023

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A novel syndrome associated with prenatal fentanyl exposure.
Erin Wadman, Erica Fernandes, Candace Muss, Nina Powell-Hamilton, Monica H Wojcik, Robin D Clark

Genet Med Open· September 2023

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Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders.
Franziska Langhammer, Reza Maroofian, Rueda Badar, Anne Gregor, Michelle Rochman, Robin D Clark

Genet Med· August 2023

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ANKLE2-related microcephaly: A variable microcephaly syndrome resembling Zika infection.
Ajay X Thomas, Nichole Link, Laurie A Robak, Gail Demmler-Harrison, Emily C Pao, Robin D Clark

Ann Clin Transl Neurol· August 2022

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Delayed diagnosis and racial bias in children with genetic conditions.
Jacklyn Omorodion, Leah Dowsett, Robin D Clark, Jamie Fraser, Aya Abu-El-Haija

Am J Med Genet A· April 2022

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CHEDDA syndrome is an underrecognized neurodevelopmental disorder with a highly restricted ATN1 mutation spectrum.
Elizabeth E Palmer, Chloe Whitton, Mais O Hashem, Robin D Clark, Subhadra Ramanathan

Clin Genet· October 2021

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Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms.
Megan Yabumoto, Jessica Kianmahd, Meghna Singh, Maria F Palafox, Angela Wei, Robin Dawn Clark

Mol Genet Genomic Med· October 2021

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Response to Hamosh et al.
Leslie G Biesecker, Margaret P Adam, Fowzan S Alkuraya, Anne R Amemiya, Michael J Bamshad, Robin D Clark

Am J Hum Genet· September 2021

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A dyadic approach to the delineation of diagnostic entities in clinical genomics.
Leslie G Biesecker, Margaret P Adam, Fowzan S Alkuraya, Anne R Amemiya, Michael J Bamshad, Robin D Clark

Am J Hum Genet· January 2021

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Optimizing Genetic Diagnosis of Neurodevelopmental Disorders in the Clinical Setting.
David Joshua Michelson, Robin Dawn Clark

Clin Lab Med· September 2020

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Clark-Baraitser syndrome is associated with a nonsense alteration in the autosomal gene TRIP12.
Raymond J Louie, Michael J Friez, Cindy Skinner, Michael Baraitser, Robin D Clark

Am J Med Genet A· March 2020

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Unbalanced Whole-Arm Translocation der(18;21)(q10;q10) in Hematological Malignancies.
Manisha Brahmbhatt Sutariya, Robin Dawn Clark, Suzanne Wilson, Leidy Vargas, Jun Wang

J Assoc Genet Technol· January 2020

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Mutations in ANKLE2, a ZIKA Virus Target, Disrupt an Asymmetric Cell Division Pathway in Drosophila Neuroblasts to Cause Microcephaly.
Nichole Link, Hyunglok Chung, Angad Jolly, Marjorie Withers, Burak Tepe, Robin D Clark

Dev Cell· December 2019

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Cornelia de Lange syndrome in diverse populations.
Leah Dowsett, Antonio R Porras, Paul Kruszka, Brandon Davis, Tommy Hu, Kate Clarkson, Robin D Clark

Am J Med Genet A· February 2019

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SIX3 deletions and incomplete penetrance in families affected by holoprosencephaly.
Bethany Stokes, Seth I Berger, Beth A Hall, Karin Weiss, Ariel F Martinez, Robin D Clark

Congenit Anom (Kyoto)· January 2018

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Novel mutations in PAX6, OTX2 and NDP in anophthalmia, microphthalmia and coloboma.
Brett Deml, Linda M Reis, Emmanuelle Lemyre, Robin D Clark, Ariana Kariminejad

Eur J Hum Genet· April 2016

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A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases.
Shinya Yamamoto, Manish Jaiswal, Wu-Lin Charng, Tomasz Gambin, Ender Karaca, Robin D Clark

Cell· September 2014

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Four new patients with Gomez-Lopez-Hernandez syndrome and proposed diagnostic criteria.
Eric T Rush, Margaret P Adam, Robin D Clark, Cynthia Curry, Julianne E Hartmann

Am J Med Genet A· February 2013

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Discovery of a novel non-steroidal GR antagonist with in vivo efficacy in the olanzapine-induced weight gain model in the rat.
Hazel J Hunt, Nicholas C Ray, George Hynd, Jon Sutton, Mohammed Sajad, Robin D Clark

Bioorg Med Chem Lett· December 2012

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Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability.
Tjitske Kleefstra, Jamie M Kramer, Kornelia Neveling, Marjolein H Willemsen, Tom S Koemans, Robin D Clark

Am J Hum Genet· July 2012

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Microdeletion 9q22.3 syndrome includes metopic craniosynostosis, hydrocephalus, macrosomia, and developmental delay.
Eric A Muller, Swaroop Aradhya, Joan F Atkin, Erin P Carmany, Alison M Elliott, Robin D Clark

Am J Med Genet A· February 2012

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