Publications by authors named "Michael Friez"

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Corrigendum to CERT1 mutations perturb human development by disrupting sphingolipid homeostasis.
Charlotte Gehin, Museer A Lone, Winston Lee, Laura Capolupo, Sylvia Ho, Michael J Friez

J Clin Invest· November 2025

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A novel KDM5C variant corrects a previously erroneous diagnosis.
Julia Chapin, Bekim Sadikovic, Jennifer Kerkhof, Charles E Schwartz, Roger E Stevenson, Michael Friez

Eur J Med Genet· April 2025

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Optical genome mapping identifies rare structural variants in neural tube defects.
Nikhil S Sahajpal, Jane Dean, Benjamin Hilton, Timothy Fee, Cindy Skinner, Michael J Friez

Genome Res· April 2025

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A novel approach to metabolic profiling in case models of MECP2-related disorders.
Jessica A Cooley Coleman, Bridgette A Moffitt, William C Bridges, Kelly Jones, Melanie May, Michael J Friez

Metab Brain Dis· February 2025

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Heterozygous ZNHIT3 variants within the 17q12 recurrent deletion region are associated with Mayer-Rokitansky-Kuster Hauser (MRKH) syndrome.
Soumia Brakta, Quansheng Du, Lynn P Chorich, Zoe A Hawkins, Megan E Sullivan, Michael Friez

Mol Cell Endocrinol· August 2024

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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, Michael J Friez

Genet Med· May 2024

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Normalized Clinical Severity Scores Reveal a Correlation between X Chromosome Inactivation and Disease Severity in Rett Syndrome.
Jonathan K Merritt, Xiaolan Fang, Raymond C Caylor, Steven A Skinner, Michael J Friez

Genes (Basel)· May 2024

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Corrigendum: PTCHD1 gene mutation/deletion: the cognitive-behavioral phenotyping of four case reports.
Federica Alice Maria Montanaro, Alessandra Mandarino, Viola Alesi, Charles Schwartz, Daniela Judith Claps Sepulveda, Michael Friez

Front Psychiatry· February 2024

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gene mutation/deletion: the cognitive-behavioral phenotyping of four case reports.
Federica Alice Maria Montanaro, Alessandra Mandarino, Viola Alesi, Charles Schwartz, Daniela Judith Claps Sepulveda, Michael Friez

Front Psychiatry· January 2024

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Correction: Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711.
Jiyong Wang, Aidin Foroutan, Ellen Richardson, Steven A Skinner, Jack Reilly, Michael J Friez

Eur J Hum Genet· December 2023

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CERT1 mutations perturb human development by disrupting sphingolipid homeostasis.
Charlotte Gehin, Museer A Lone, Winston Lee, Laura Capolupo, Sylvia Ho, Michael J Friez

J Clin Invest· May 2023

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X-Linked intellectual disability update 2022.
Charles E Schwartz, Raymond J Louie, Annick Toutain, Cindy Skinner, Michael J Friez

Am J Med Genet A· 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, Michael J Friez

Hum Mutat· November 2022

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Mosaicism of common pathogenic MECP2 variants identified in two males with a clinical diagnosis of Rett syndrome.
Jessica A Cooley Coleman, Timothy Fee, Renee Bend, Raymond Louie, Fran Annese, Michael J Friez

Am J Med Genet A· October 2022

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Rare pathogenic variants in WNK3 cause X-linked intellectual disability.
Sébastien Küry, Jinwei Zhang, Thomas Besnard, Alfonso Caro-Llopis, Xue Zeng, Michael J Friez

Genet Med· September 2022

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Recommendations by the ClinGen Rett/Angelman-like expert panel for gene-specific variant interpretation methods.
Dianalee McKnight, Lora Bean, Izabela Karbassi, Katelynn Beattie, Thierry Bienvenu, Michael Friez

Hum Mutat· August 2022

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Analysis of X-inactivation status in a Rett syndrome natural history study cohort.
Xiaolan Fang, Kameryn M Butler, Fatima Abidi, Jennifer Gass, Arthur Beisang, Michael J Friez

Mol Genet Genomic Med· May 2022

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Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711.
Jiyong Wang, Aidin Foroutan, Ellen Richardson, Steven A Skinner, Jack Reilly, Michael J Friez

Eur J Hum Genet· April 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, Michael J Friez

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, Michael J Friez

Genet Med· November 2021

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Scalp-Ear-Nipple syndrome: first report of a Potassium channel tetramerization domain-containing 1 in-frame insertion and review of the literature.
Kameryn M Butler, Vahid Bahrambeigi, Allie Merrihew, Michael J Friez, Sara S Cathey

Clin Dysmorphol· October 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, Michael J Friez

Genet Med· June 2021

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Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.
Erfan Aref-Eshghi, Jennifer Kerkhof, Victor P Pedro, Groupe DI France, Mouna Barat-Houari, Michael J Friez

Am J Hum Genet· June 2021

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Severe multisystem pathology, metabolic acidosis, mitochondrial dysfunction, and early death associated with an X-linked variant.
Tonya Moss, Melanie May, Heather Flanagan-Steet, Raymond Caylor, Yong-Hui Jiang, Michael Friez

Cold Spring Harb Mol Case Stud· June 2021

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Genetics of agenesis/hypoplasia of the uterus and vagina: narrowing down the number of candidate genes for Mayer-Rokitansky-Küster-Hauser Syndrome.
Sasha Mikhael, Sonal Dugar, Madison Morton, Lynn P Chorich, Kerlene Berwick Tam, Michael Friez

Hum Genet· April 2021

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