Publications by authors named "Robin Fletcher"

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Phenotypic Variability and Paternal Inheritance of a CHD8 Variant Causing Intellectual Developmental Disorder With Autism and Macrocephaly Confirmed by Epigenetic and Structural Analyses.
Yutaka Furuta, Kimberly M Ezell, Rizwan Hamid, Joy D Cogan, Thomas A Cassini, Robin S Fletcher

Mol Genet Genomic Med· December 2025

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Recurrent carotid paragangliomas in a syndromic patient with a heterozygous missense variant in DNA Methyltransferase 3 Alpha.
Ryan J German, Blake Vuocolo, Liesbeth Vossaert, Lisa Saba, Robin Fletcher

Am J Med Genet A· January 2025

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Diagnostic utility and reporting recommendations for clinical DNA methylation episignature testing in genetically undiagnosed rare diseases.
Jennifer Kerkhof, Cassandra Rastin, Michael A Levy, Raissa Relator, Haley McConkey, Robin S Fletcher

Genet Med· May 2024

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Synthetic Control of the Defect Structure and Hierarchical Extra-Large-/Small-Pore Microporosity in Aluminosilicate Zeolite SWY.
Ruxandra G Chitac, Vladimir L Zholobenko, Robin S Fletcher, Emma Softley, Jonathan Bradley

J Am Chem Soc· October 2023

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DNA methylation episignature for Witteveen-Kolk syndrome due to SIN3A haploinsufficiency.
Jet Coenen-van der Spek, Raissa Relator, Jennifer Kerkhof, Haley McConkey, Michael A Levy, Robin S Fletcher

Genet Med· January 2023

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Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders.
Michael A Levy, Raissa Relator, Haley McConkey, Erinija Pranckeviciene, Jennifer Kerkhof, Robin S Fletcher

Hum Mutat· November 2022

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Near complete deletion of KMT2D in a college student.
Catherine Gooch, Jaclyn Paige Souder, Matthew L Tedder, Jennifer Kerkhof, Jennifer A Lee, Robin S Fletcher

Am J Med Genet A· May 2022

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Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders.
Michael A Levy, Haley McConkey, Jennifer Kerkhof, Mouna Barat-Houari, Sara Bargiacchi, Robin S Fletcher

HGG Adv· January 2022

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Correction: Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders.
Bekim Sadikovic, Michael A Levy, Jennifer Kerkhof, Erfan Aref-Eshghi, Laila Schenkel, Robin S Fletcher

Genet Med· November 2021

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Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders.
Bekim Sadikovic, Michael A Levy, Jennifer Kerkhof, Erfan Aref-Eshghi, Laila Schenkel, Robin S Fletcher

Genet Med· June 2021

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Techniques for direct experimental evaluation of structure-transport relationships in disordered porous solids.
Artjom Nepryahin, Robin S Fletcher, Elizabeth M Holt, Sean P Rigby

Adsorption (Boston)· August 2016

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Improving sensitivity and accuracy of pore structural characterisation using scanning curves in integrated gas sorption and mercury porosimetry experiments.
Iain Hitchcock, Marie Lunel, Serafim Bakalis, Robin S Fletcher, Elizabeth M Holt

J Colloid Interface Sci· March 2014

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Web usability testing with a Hispanic medically underserved population.
Mary Moore, Randolph G Bias, Katherine Prentice, Robin Fletcher, Terry Vaughn

J Med Libr Assoc· April 2009

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Simulation of nonwetting phase entrapment within porous media using magnetic resonance imaging.
Matthew J Watt-Smith, Sean P Rigby, John A Chudek, Robin S Fletcher

Langmuir· May 2006

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Characterization of Macroscopic Structural Disorder in Porous Media Using Mercury Porosimetry.
Sean P. Rigby, Robin S. Fletcher, Sandra N. Riley

J Colloid Interface Sci· August 2001

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