Publications by authors named "Bret Bostwick"

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LONP1 Variants Are Associated With Clinically Diverse Phenotypes.
Randee E Young, Lu Qiao, Rebecca Hernan, David A Sweetser, Jessica L Waxler, Bret Bostwick

Clin Genet· September 2025

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Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panels.
Erin Rooney Riggs, Taylor I Bingaman, Carrie-Ann Barry, Andrea Behlmann, Krista Bluske, Bret Bostwick

Genet Med· September 2022

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Vertical transmission of a large calvarial ossification defect due to heterozygous variants of ALX4 and TWIST1.
Michelle E Walters, Yves Lacassie, Mahshid Azamian, Rachel Franciskovich, Gladys Zapata, Bret L Bostwick

Am J Med Genet A· March 2021

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Immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome with NK dysfunction and EBV-driven malignancy treated with stem cell transplantation.
Caitlin M Burk, Kara E Coffey, Emily M Mace, Bret L Bostwick, Ivan K Chinn

J Allergy Clin Immunol Pract· March 2020

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Biallelic and De Novo Variants in DONSON Reveal a Clinical Spectrum of Cell Cycle-opathies with Microcephaly, Dwarfism and Skeletal Abnormalities.
Ender Karaca, Jennifer E Posey, Bret Bostwick, Pengfei Liu, Alper Gezdirici

Am J Med Genet A· October 2019

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C-Type Natriuretic Peptide Analogue Therapy in Children with Achondroplasia.
Ravi Savarirayan, Melita Irving, Carlos A Bacino, Bret Bostwick, Joel Charrow

N Engl J Med· July 2019

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The role of genomic approaches in diagnosis and management of primary immunodeficiency.
Ivan K Chinn, Bret L Bostwick

Curr Opin Pediatr· December 2018

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Schaaf-Yang syndrome overview: Report of 78 individuals.
John McCarthy, Philip J Lupo, Erin Kovar, Megan Rech, Bret Bostwick

Am J Med Genet A· December 2018

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The first reported case of an inherited pathogenic CHD2 variant in a clinically affected mother and daughter.
Andrea Klunder Petersen, Haley Streff, Mari Tokita, Bret L Bostwick

Am J Med Genet A· July 2018

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Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome.
M Cecilia Poli, Frédéric Ebstein, Sarah K Nicholas, Marietta M de Guzman, Lisa R Forbes, Bret L Bostwick

Am J Hum Genet· June 2018

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Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management.
Linyan Meng, Mohan Pammi, Anirudh Saronwala, Pilar Magoulas, Andrew Ray Ghazi, Bret L Bostwick

JAMA Pediatr· December 2017

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Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
Paweł Stankiewicz, Tahir N Khan, Przemyslaw Szafranski, Leah Slattery, Haley Streff, Bret Bostwick

Am J Hum Genet· October 2017

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Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.
Bret L Bostwick, Scott McLean, Jennifer E Posey, Haley E Streff, Karen W Gripp

Genome Med· August 2017

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Phenotypic and molecular characterization of focal dermal hypoplasia in 18 individuals.
Bret Bostwick, Ping Fang, Ankita Patel, V Reid Sutton

Am J Med Genet C Semin Med Genet· March 2016

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Chronic Oral L-Carnitine Supplementation Drives Marked Plasma TMAO Elevations in Patients with Organic Acidemias Despite Dietary Meat Restrictions.
Marcus J Miller, Bret L Bostwick, Adam D Kennedy, Taraka R Donti, Qin Sun

JIMD Rep· March 2016

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In vivo 6-thioguanine-resistant T cells from melanoma patients have public TCR and share TCR beta amino acid sequences with melanoma-reactive T cells.
Cindy L Zuleger, Michael D Macklin, Bret L Bostwick, Qinglin Pei, Michael A Newton

J Immunol Methods· February 2011

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A Drosophila behavioral mutant, down and out (dao), is defective in an essential regulator of Erg potassium channels.
Tim Fergestad, Harinath Sale, Bret Bostwick, Ashleigh Schaffer, Lingling Ho

Proc Natl Acad Sci U S A· March 2010

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Metabolic disruption in Drosophila bang-sensitive seizure mutants.
Tim Fergestad, Bret Bostwick, Barry Ganetzky

Genetics· July 2006

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