Publications by authors named "June-Anne Gold"

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Pathogenic XPO1 variants cause a dominant neurodevelopmental disorder.
Amber S E van Oirsouw, Pavla Nedbalova, Miroslava Hancarova, Jan Prchal, Darina Prchalova, June-Anne Gold

Genet Med· November 2025

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Relationship of thyroid function with genetic subtypes and treatment with growth hormone in Prader-Willi syndrome.
Tiffany Schmok, Abhilasha Surampalli, Manaswitha Khare, Setarah Zandihaghighi, Rounak Baghbaninogourani, June-Anne Gold

Am J Med Genet A· October 2024

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Molecular Classes and Growth Hormone Treatment Effects on Behavior and Emotion in Patients with Prader-Willi Syndrome.
Ranim Mahmoud, Heidi D Swanson, Merlin G Butler, Pamela Flodman, June-Anne Gold

J Clin Med· May 2022

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Evaluating Sleep Disturbances in Children With Rare Genetic Neurodevelopmental Syndromes.
Olivia J Veatch, Beth A Malow, Hye-Seung Lee, Aryn Knight, Judy O Barrish, June-Anne Gold

Pediatr Neurol· October 2021

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Influence of molecular classes and growth hormone treatment on growth and dysmorphology in Prader-Willi syndrome: A multicenter study.
Ranim Mahmoud, Anna Leonenko, Merlin G Butler, Pamela Flodman, June-Anne Gold

Clin Genet· July 2021

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Genetic Subtype-Phenotype Analysis of Growth Hormone Treatment on Psychiatric Behavior in Prader-Willi Syndrome.
Andrea S Montes, Kathryn E Osann, June Anne Gold, Roy N Tamura, Daniel J Driscoll

Genes (Basel)· October 2020

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A randomized pilot efficacy and safety trial of diazoxide choline controlled-release in patients with Prader-Willi syndrome.
Virginia Kimonis, Abhilasha Surampalli, Marie Wencel, June-Anne Gold, Neil M Cowen

PLoS One· March 2020

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Molecular subtype and growth hormone effects on dysmorphology in Prader-Willi syndrome.
Jeannine Oldzej, Javeria Manazir, June-Anne Gold, Ranim Mahmoud, Kathryn Osann

Am J Med Genet A· January 2020

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Early Diagnosis in Prader-Willi Syndrome Reduces Obesity and Associated Co-Morbidities.
Virginia E Kimonis, Roy Tamura, June-Anne Gold, Nidhi Patel, Abhilasha Surampalli

Genes (Basel)· November 2019

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Impact of genetic subtypes of Prader-Willi syndrome with growth hormone therapy on intelligence and body mass index.
Merlin G Butler, Naomi A Matthews, Nidhi Patel, Abhilasha Surampalli, June-Anne Gold

Am J Med Genet A· September 2019

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Birth seasonality studies in a large Prader-Willi syndrome cohort.
Merlin G Butler, Virginia Kimonis, Elisabeth Dykens, June Anne Gold, Roy Tamura

Am J Med Genet A· August 2019

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Molecular genetic classification in Prader-Willi syndrome: a multisite cohort study.
Merlin G Butler, Samantha N Hartin, Waheeda A Hossain, Ann M Manzardo, Virginia Kimonis, June Anne Gold

J Med Genet· March 2019

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Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.
Francesco Vetrini, Shane McKee, Jill A Rosenfeld, Mohnish Suri, Andrea M Lewis, June-Anne Gold

Genome Med· March 2019

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Contributing factors of mortality in Prader-Willi syndrome.
Jennifer Proffitt, Kathryn Osann, Barbara McManus, Virginia E Kimonis, Janalee Heinemann, June-Anne Gold

Am J Med Genet A· February 2019

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De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.
Francesco Vetrini, Shane McKee, Jill A Rosenfeld, Mohnish Suri, Andrea M Lewis, June-Anne Gold

Genome Med· February 2019

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The importance of preconception and prenatal genetic evaluation in heart transplant individuals and fetal and postnatal cardiac monitoring in their offspring.
Yin Liu, Matthew J Bock, June-Anne Gold

Cardiol Young· November 2018

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Multicentre study of maternal and neonatal outcomes in individuals with Prader-Willi syndrome.
Preeti Singh, Ranim Mahmoud, June-Anne Gold, Jennifer L Miller, Elizabeth Roof

J Med Genet· September 2018

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Child Neurology: Siblings with infantile epilepsy and developmental delay: A circuitous path to genomic diagnosis.
Yin Liu, David Michelson, Robin Clark, June-Anne Gold

Neurology· July 2018

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Comparison of perinatal factors in deletion versus uniparental disomy in Prader-Willi syndrome.
June-Anne Gold, Ranim Mahmoud, Suzanne B Cassidy, Virginia Kimonis

Am J Med Genet A· May 2018

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Oxytocin treatment in children with Prader-Willi syndrome: A double-blind, placebo-controlled, crossover study.
Jennifer L Miller, Roy Tamura, Merlin G Butler, Virginia Kimonis, Carlos Sulsona, June-Anne Gold

Am J Med Genet A· May 2017

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A novel mutation of orthodenticle homeobox 2 contributing to a case of otocephaly initially diagnosed by prenatal ultrasound in the first trimester.
Meredith Jones, Judith Chung, Virginia Kimonis, June-Anne Gold

Clin Dysmorphol· April 2017

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Prader-Willi Syndrome due to an Unbalanced de novo Translocation t(15;19)(q12;p13.3).
Vy Dang, Abhilasha Surampalli, Ann M Manzardo, Stephanie Youn, Merlin G Butler, June-Anne Gold

Cytogenet Genome Res· January 2017

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Growth Charts for Prader-Willi Syndrome During Growth Hormone Treatment.
Merlin G Butler, Jaehoon Lee, Devin M Cox, Ann M Manzardo, June-Anne Gold

Clin Pediatr (Phila)· September 2016

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Growth charts for non-growth hormone treated Prader-Willi syndrome.
Merlin G Butler, Jaehoon Lee, Ann M Manzardo, June-Anne Gold, Jennifer L Miller

Pediatrics· January 2015

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Effect of genetic subtypes and growth hormone treatment on bone mineral density in Prader-Willi syndrome.
Manaswitha Khare, June-Anne Gold, Marie Wencel, John Billimek, Abhilasha Surampalli

J Pediatr Endocrinol Metab· May 2014

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