Publications by authors named "Emily Alderman"

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Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment.
Marie Morimoto, Vikas Bhambhani, Nour Gazzaz, Mariska Davids, Paalini Sathiyaseelan, Emily Alderman

NPJ Genom Med· February 2023

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The practice of genomic medicine: A delineation of the process and its governing principles.
Julia Handra, Adrienne Elbert, Nour Gazzaz, Ashley Moller-Hansen, Stephanie Hyunh, Emily Alderman

Front Med (Lausanne)· January 2023

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Can tandem alternative splicing and evasion of premature termination codon surveillance contribute to attenuated Peutz-Jeghers syndrome?
Nour Gazzaz, F Graeme Frost, Emily Alderman, Phillip A Richmond, Joshua Dalmann

Am J Med Genet A· October 2022

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Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study.
Alison M Elliott, Shelin Adam, Christèle du Souich, Anna Lehman, Tanya N Nelson, Emily Alderman

HGG Adv· July 2022

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Can leaky splicing and evasion of premature termination codon surveillance contribute to the phenotypic variability in Alkuraya-Kucinskas syndrome?
Hui-Lin Chin, Susan Lin, Joshua Dalmann, Bhavi Modi, Emily Alderman

Eur J Med Genet· March 2022

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Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders.
Björn Fischer-Zirnsak, Lara Segebrecht, Max Schubach, Perrine Charles, Emily Alderman

Am J Hum Genet· September 2019

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