Publications by authors named "Austin Hamm"

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De novo variants in ATP2B1 lead to neurodevelopmental delay.
Meer Jacob Rahimi, Nicole Urban, Meret Wegler, Heinrich Sticht, Michael Schaefer, J Austin Hamm

Am J Hum Genet· December 2025

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Delineating the genotypic and phenotypic spectrum of -related neurodevelopmental disorders.
Anushree Acharya, Haluk Kavus, Patrick Dunn, Abdul Nasir, Leandra Folk, J Austin Hamm

J Med Genet· July 2022

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Biallelic pathogenic variants in roundabout guidance receptor 1 associate with syndromic congenital anomalies of the kidney and urinary tract.
Johannes Münch, Marie Engesser, Ria Schönauer, J Austin Hamm, Christin Hartig

Kidney Int· May 2022

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De novo variants in ATP2B1 lead to neurodevelopmental delay.
Meer Jacob Rahimi, Nicole Urban, Meret Wegler, Heinrich Sticht, Michael Schaefer, J Austin Hamm

Am J Hum Genet· May 2022

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Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome.
Marjolein J A Weerts, Kristina Lanko, Francisco J Guzmán-Vega, Adam Jackson, Reshmi Ramakrishnan, Shehla Mohammed, J Austin Hamm

Genet Med· November 2021

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TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study.
Bradley Bowles, Alejandro Ferrer, Carla J Nishimura, Filippo Pinto E Vairo, Tristan Rey, J Austin Hamm

Am J Med Genet A· August 2021

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Novel CUBN Mutation in a Young Child With Megaloblastic Anemia.
Corey Falcon, Austin J Hamm, Geling Li, Jeffrey Lebensburger, Thomas H Howard

J Pediatr Hematol Oncol· May 2021

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Incorporation of Second-Tier Biomarker Testing Improves the Specificity of Newborn Screening for Mucopolysaccharidosis Type I.
Dawn S Peck, Jean M Lacey, Amy L White, Gisele Pino, April L Studinski, J Austin Hamm

Int J Neonatal Screen· March 2020

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Programme directors' opinions on medical genetics education in pediatric residency programmes.
J Austin Hamm, Michele H Nichols, Nathaniel H Robin

Curr Opin Pediatr· December 2017

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Foramen magnum compression in Coffin-Lowry syndrome: A case report.
Jariya Upadia, Jerry Oakes, Austin Hamm, Anna C E Hurst, Nathaniel H Robin

Am J Med Genet A· April 2017

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Biotinylation: a novel posttranslational modification linking cell autonomous circadian clocks with metabolism.
Lan He, J Austin Hamm, Alex Reddy, David Sams, Rodrigo A Peliciari-Garcia

Am J Physiol Heart Circ Physiol· June 2016

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Partial trisomy 21: a fifty-year follow-up visit.
J Austin Hamm, Andrew J Carroll, Fady M Mikhail, Bruce R Korf, Wayne H Finley

Am J Med Genet A· July 2015

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Newborn craniofacial malformations: orofacial clefting and craniosynostosis.
J Austin Hamm, Nathaniel H Robin

Clin Perinatol· June 2015

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Incidental detection of cancer predisposition gene copy number variations by array comparative genomic hybridization.
J Austin Hamm, Fady M Mikhail, Dana Hollenbeck, Meagan Farmer, Nathaniel H Robin

J Pediatr· November 2014

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