Publications by authors named "Beverly Emanuel"

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Prevalence and Spectrum of Congenital Heart Disease in Individuals With Distal Chromosome 22q11.22-23 Deletions.
Tanner J Nelson, Daniel E McGinn, T Blaine Crowley, Lydia Rockart, Audrey Green, Beverly S Emanuel

Clin Genet· December 2025

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Leveraging Clinical Neuroimaging to Chart Brain Structure in 22q11.2 Deletion Syndrome.
Benjamin Jung, J Eric Schmitt, Jakob Seidlitz, Jenna Schabdach, Shivaram Karandikar, Beverly Emanuel

medRxiv· November 2025

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Optical mapping in Black genomes: Distinct LCR22 structures and 22q11.2 deletion syndrome mechanisms.
Steven Pastor, Oanh Tran, Ryan Lapointe, Arnold Z Olali, Douglas C Wallace, Beverly S Emanuel

Genet Med· October 2025

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ZNF280A links DNA double-strand break repair to human 22q11.2 distal deletion syndrome.
Thomas L Clarke, Hyo Min Cho, Ilaria Ceppi, Boya Gao, Tribhuwan Yadav, Beverly S Emanuel

Nat Cell Biol· June 2025

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Multiple paralogs and recombination mechanisms contribute to the high incidence of 22q11.2 deletion syndrome.
Lisanne Vervoort, Nicolas Dierckxsens, Marta Sousa Santos, Senne Meynants, Erika Souche, Beverly S Emanuel

Genome Res· April 2025

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Hearing Loss in Children with 22q11.2 Deletion Syndrome.
Jill Arganbright, Terrence Blaine Crowley, Meghan Tracy, Janelle Noel-MacDonnell, Kim Gaiser, Beverly Emanuel

Laryngoscope· February 2025

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Sleep difficulties related to psychopathology and neurocognition in people with 22q11.2 deletion syndrome.
Margaret C Souders, Donna M McDonald-McGinn, Kosha Ruparel, Tyler M Moore, Sunny X Tang, Beverly S Emanuel

Psychiatry Res· February 2025

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Tbx1 haploinsufficiency leads to local skull deformity, paraflocculus and flocculus dysplasia, and motor-learning deficit in 22q11.2 deletion syndrome.
Tae-Yeon Eom, J Eric Schmitt, Yiran Li, Christopher M Davenport, Jeffrey Steinberg, Beverly S Emanuel

Nat Commun· December 2024

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Risk of meningomyelocele mediated by the common 22q11.2 deletion.
Keng Ioi Vong, Sangmoon Lee, Kit Sing Au, T Blaine Crowley, Valeria Capra, Beverly S Emanuel

Science· May 2024

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Prenatal vs postnatal diagnosis of 22q11.2 deletion syndrome: cardiac and noncardiac outcomes through 1 year of age.
Lindsay R Freud, Stephanie Galloway, T Blaine Crowley, Julie Moldenhauer, Ann Swillen, Beverly S Emanuel

Am J Obstet Gynecol· March 2024

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Inflammatory Proteomic Analysis of 22q11.2 Deletion Syndrome.
Valentina Frusone, Kelly Maurer, Beverly S Emanuel, Donna McDonald-McGinn, Kathleen E Sullivan

J Clin Immunol· March 2024

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Multiple paralogues and recombination mechanisms drive the high incidence of 22q11.2 Deletion Syndrome.
Lisanne Vervoort, Nicolas Dierckxsens, Marta Sousa Santos, Senne Meynants, Erika Souche, Beverly S Emanuel

bioRxiv· March 2024

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Source-based morphometry reveals structural brain pattern abnormalities in 22q11.2 deletion syndrome.
Ruiyang Ge, Christopher R K Ching, Anne S Bassett, Leila Kushan, Kevin M Antshel, Beverly S Emanuel

Hum Brain Mapp· January 2024

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Psychosis spectrum features, neurocognition and functioning in a longitudinal study of youth with 22q11.2 deletion syndrome.
Raquel E Gur, Donna M McDonald-McGinn, Tyler M Moore, R Sean Gallagher, Emily McClellan, Beverly S Emanuel

Psychol Med· October 2023

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Chromatin regulators in the TBX1 network confer risk for conotruncal heart defects in 22q11.2DS.
Yingjie Zhao, Yujue Wang, Lijie Shi, Donna M McDonald-McGinn, T Blaine Crowley, Beverly S Emanuel

NPJ Genom Med· July 2023

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Immunologic, Molecular, and Clinical Profile of Patients with Chromosome 22q11.2 Duplications.
Dharmagat Bhattarai, Daniel E McGinn, T Blaine Crowley, Victoria Giunta, Kimberly Gaiser, Beverly S Emanuel

J Clin Immunol· May 2023

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Rare coding variants as risk modifiers of the 22q11.2 deletion implicate postnatal cortical development in syndromic schizophrenia.
Jhih-Rong Lin, Yingjie Zhao, M Reza Jabalameli, Nha Nguyen, Joydeep Mitra, Beverly S Emanuel

Mol Psychiatry· May 2023

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Coexisting Conditions Modifying Phenotypes of Patients with 22q11.2 Deletion Syndrome.
Marta Smyk, Maciej Geremek, Kamila Ziemkiewicz, Tomasz Gambin, Anna Kutkowska-Kaźmierczak, Beverly S Emanuel

Genes (Basel)· March 2023

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A Comprehensive Analysis of Cerebellar Volumes in the 22q11.2 Deletion Syndrome.
J Eric Schmitt, John J DeBevits, David R Roalf, Kosha Ruparel, R Sean Gallagher, Beverly Emanuel

Biol Psychiatry Cogn Neurosci Neuroimaging· January 2023

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Platelet findings in 22q11.2 deletion syndrome correlate with disease manifestations but do not correlate with GPIb surface expression.
Ian M Campbell, T Blaine Crowley, Chintan Jobaliya, Alice Bailey, Daniel E McGinn, Beverly S Emanuel

Clin Genet· January 2023

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Improved Outcomes in Patients with 22q11.2 Deletion Syndrome and Diagnosis of Interrupted Aortic Arch Prior to Birth Hospital Discharge, a Retrospective Study.
Hayley A Ron, Terrence Blaine Crowley, Yichuan Liu, Marta Unolt, Erica Schindewolf, Beverly S Emanuel

Genes (Basel)· December 2022

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Influence of Parent-of-Origin on Intellectual Outcomes in the Chromosome 22q11.2 Deletion Syndrome.
Daniel E McGinn, T Blaine Crowley, Tracy Heung, Oanh Tran, Edward Moss, Beverly S Emanuel

Genes (Basel)· October 2022

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A Novel Non-Allelic Homologous Recombination Event in a Parent with an 11;22 Reciprocal Translocation Leading to 22q11.2 Deletion Syndrome.
Steven Pastor, Oanh Tran, Daniel E McGinn, T Blaine Crowley, Elaine H Zackai, Beverly S Emanuel

Genes (Basel)· September 2022

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Gastrointestinal Features of 22q11.2 Deletion Syndrome Include Chronic Motility Problems From Childhood to Adulthood.
Rebecca E Kotcher, Daniel B Chait, Jason M Heckert, T Blaine Crowley, Kimberly A Forde, Beverly S Emanuel

J Pediatr Gastroenterol Nutr· August 2022

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