Publications by authors named "Audrey Woerner"

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Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disability.
Ariane Kröll-Hermi, Corinne Stoetzel, Christelle Etard, Levon Halabelian, Elise Schaefer, Audrey Woerner

Am J Hum Genet· December 2025

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is implicated in central nervous system, orofacial and maxillofacial anomalies.
Jeshurun C Kalanithy, Enrico Mingardo, Jil D Stegmann, Ramgopal Dhakar, Tikam Chand Dakal, Audrey C Woerner

J Med Genet· January 2025

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Improvement of Unilateral Breast Hypoplasia With Oral Spironolactone in a Patient With Becker Nevus Syndrome.
Li-Wei Chang, Viktoryia Kazlouskaya, Corey Georgesen, Martha Matsumoto, Jonhan Ho, Audrey Woerner

J Drugs Dermatol· April 2022

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The Use of Whole Genome and Exome Sequencing for Newborn Screening: Challenges and Opportunities for Population Health.
Audrey C Woerner, Renata C Gallagher, Jerry Vockley, Aashish N Adhikari

Front Pediatr· July 2021

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Mitochondrial Disease and Coenzyme Q10 Deficiency: Commentary.
Audrey C Woerner, Jerry Vockley

J Pediatr· January 2021

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Compound heterozygous loss of function variants in MYL9 in a child with megacystis-microcolon-intestinal hypoperistalsis syndrome.
Justin L Kandler, Evgenia Sklirou, Audrey Woerner, Leslie Walsh, Eleina Cox

Mol Genet Genomic Med· November 2020

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Partial 5p Deletion and Partial 5q Duplication in a Patient with Multiple Congenital Anomalies: A Two-Step Mechanism in Chromosomal Rearrangement Mediated by Non-Allelic Homologous Recombination.
Zhishuo Z Ou, Sally Kochmar, Svetlana A Yatsenko, Audrey C Woerner, Roxanne Acquaro

Cytogenet Genome Res· October 2018

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Clinical utility of a next generation sequencing panel assay for Marfan and Marfan-like syndromes featuring aortopathy.
Whitney Wooderchak-Donahue, Chad VanSant-Webb, Tatiana Tvrdik, Parker Plant, Tracey Lewis, Audrey Woerner

Am J Med Genet A· August 2015

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Topical rapamycin therapy to alleviate the cutaneous manifestations of tuberous sclerosis complex: a double-blind, randomized, controlled trial to evaluate the safety and efficacy of topically applied rapamycin.
Mary Kay Koenig, Adelaide A Hebert, Joan Roberson, Joshua Samuels, John Slopis, Audrey Woerner

Drugs R D· September 2012

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Tuberous sclerosis complex and polycystic kidney disease together: an exception to the contiguous gene syndrome.
Audrey C Woerner, Kit-Sing Au, Aimee T Williams, Peter C Harris, Hope Northrup

Genet Med· March 2006

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