Publications by authors named "Michael Marble"

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Congenital Alopecia, Hypoplastic Kidneys, Growth Restriction, Growth Hormone Resistance, and Liver Fibrosis: Confirmation of a New Syndrome Caused by Biallelic Variants in ZPR1.
Kiley Quintana, Michele Hutchison, Craig Wong, Razan Alkhouri, Leah Hardy, Michael Marble

Am J Med Genet A· January 2026

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Gastrointestinal Xanthomas and Ichthyosis: A Mild Phenotype of CHILD Syndrome (NSDHL Gene Mutation).
Do Han Kim, Michael Marble, Juan E Corral

Am J Gastroenterol· April 2025

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POLR3B is associated with a developmental and epileptic encephalopathy with myoclonic-atonic seizures and ataxia.
Joseph D Symonds, Kristen L Park, Cyril Mignot, Stewart Macleod, Martin Armstrong, Michael Marble

Epilepsia· November 2024

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Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcifications.
Ashish R Deshwar, Cheryl Cytrynbaum, Harsha Murthy, Jessica Zon, David Chitayat, Michael Marble

Brain· June 2023

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UBA2 variants underlie a recognizable syndrome with variable aplasia cutis congenita and ectrodactyly.
Rhonda E Schnur, Sairah Yousaf, James Liu, Wendy K Chung, Lindsay Rhodes, Michael Marble

Genet Med· September 2021

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De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism.
Maria J Guillen Sacoto, Iva A Tchasovnikarova, Erin Torti, Cara Forster, E Hallie Andrew, Michael Marble

Am J Hum Genet· August 2020

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Gorlin-like phenotype in a patient with a PTCH2 variant of uncertain significance.
Kelsey Casano, Hannah Meddaugh, Regina M Zambrano, Michael Marble, Jairo I Torres

Eur J Med Genet· April 2020

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Delayed diagnosis of a patient with Usher syndrome 1C in a Louisiana Acadian family highlights the necessity of timely genetic testing for the diagnosis and management of congenital hearing loss.
Ayesha Umrigar, Amanda Musso, Danielle Mercer, Annette Hurley, Cassondra Glausier, Michael Marble

SAGE Open Med Case Rep· December 2017

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RAF1 variants causing biventricular hypertrophic cardiomyopathy in two preterm infants: further phenotypic delineation and review of literature.
Danielle Thompson, Jessica Patrick-Esteve, Jeffrey W Surcouf, Dana Rivera, Bianca Castellanos, Michael Marble

Clin Dysmorphol· October 2017

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Cardiac response to enzyme replacement therapy in infantile Pompe disease with severe hypertrophic cardiomyopathy.
Sravani Avula, Thuylinh M Nguyen, Michael Marble, Christian Lilje

Echocardiography· April 2017

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Missense variant in UBA2 associated with aplasia cutis congenita, duane anomaly, hip dysplasia and other anomalies: A possible new disorder involving the SUMOylation pathway.
Michael Marble, Maria J Guillen Sacoto, Rashmi Chikarmane, Dominic Gargiulo, Jane Juusola

Am J Med Genet A· March 2017

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Further evidence that variants in PPP1CB cause a rasopathy similar to Noonan syndrome with loose anagen hair.
Regina M Zambrano, Michael Marble, Stuart A Chalew, Christian Lilje, Alfonso Vargas

Am J Med Genet A· February 2017

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Congenital insensitivity to pain and anhidrosis: Case report and review of findings along neuro-immune axis in the disorder.
Aditi Vian Varma, Lori McBride, Michael Marble, Ann Tilton

J Neurol Sci· November 2016

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Inside the 8p23.1 duplication syndrome; eight microduplications of likely or uncertain clinical significance.
John C K Barber, Jill A Rosenfeld, John M Graham, Nancy Kramer, Katherine L Lachlan, Michael Marble

Am J Med Genet A· September 2015

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Bilateral absence of the ulna in 4q terminal deletion syndrome: evidence for a critical region.
Tyson Meaux, Amy Zeringue, Christy Mumphrey, Brian Barkemeyer, Michael Marble

Clin Dysmorphol· July 2015

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8p23.1 duplication syndrome; common, confirmed, and novel features in six further patients.
John C K Barber, Jill A Rosenfeld, Nicola Foulds, Sophie Laird, Mark S Bateman, Michael Marble

Am J Med Genet A· March 2013

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De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.
Jean-Baptiste Rivière, Bregje W M van Bon, Alexander Hoischen, Stanislav S Kholmanskikh, Brian J O'Roak, Michael Marble

Nat Genet· February 2012

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High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44.
Blake C Ballif, Jill A Rosenfeld, Ryan Traylor, Aaron Theisen, Patricia I Bader, Michael Marble

Hum Genet· January 2012

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Microdeletion of Xq28 involving the AFF2 (FMR2) gene in two unrelated males with developmental delay.
Trilochan Sahoo, Aaron Theisen, Michael Marble, Raymond Tervo, Jill A Rosenfeld

Am J Med Genet A· December 2011

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Microdeletion 20p12.3 involving BMP2 contributes to syndromic forms of cleft palate.
Trilochan Sahoo, Aaron Theisen, Pedro A Sanchez-Lara, Michael Marble, Daniela N Schweitzer

Am J Med Genet A· July 2011

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Positive newborn screen in a normal infant of a mother with asymptomatic very long-chain Acyl-CoA dehydrogenase deficiency.
Robin R McGoey, Michael Marble

J Pediatr· June 2011

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Monosomy 18p and immunologic dysfunction: review of the literature and a new case report with thyroiditis, IgA deficiency, and systemic lupus erythematosus.
Robin R McGoey, Abraham Gedalia, Michael Marble

Clin Dysmorphol· April 2011

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De novo duplication 11p13 involving the PAX6 gene in a patient with neonatal seizures, hypotonia, microcephaly, developmental disability and minor ocular manifestations.
Swaroop Aradhya, Nizar Smaoui, Michael Marble, Yves Lacassie

Am J Med Genet A· February 2011

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Mutations in LTBP4 cause a syndrome of impaired pulmonary, gastrointestinal, genitourinary, musculoskeletal, and dermal development.
Zsolt Urban, Vishwanathan Hucthagowder, Nura Schürmann, Vesna Todorovic, Lior Zilberberg, Michael Marble

Am J Hum Genet· November 2009

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45,X/47,XX,+18 and ring (18) mosaicism with mild phenotypic features including normal stature: clinical report and review of the literature.
Robin R McGoey, Kelly Jackson, Michael Marble

Clin Dysmorphol· January 2009

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