Publications by authors named "Hannah Meddaugh"

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Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcifications.
Ashish R Deshwar, Cheryl Cytrynbaum, Harsha Murthy, Jessica Zon, David Chitayat, Hannah Meddaugh

Brain· June 2023

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Parents' Perspectives on the Utility of Genomic Sequencing in the Neonatal Intensive Care Unit.
Amy A Lemke, Michelle L Thompson, Emily C Gimpel, Katelyn C McNamara, Carla A Rich, Hannah Meddaugh

J Pers Med· June 2023

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Short stature, hearing loss, retinitis pigmentosa, and distinctive facies syndrome: A case report.
Ashley Reeves, Kanwal Ojha, Hannah Meddaugh, Regina M Zambrano

Am J Med Genet A· December 2022

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Genome sequencing as a first-line diagnostic test for hospitalized infants.
Kevin M Bowling, Michelle L Thompson, Candice R Finnila, Susan M Hiatt, Donald R Latner, Hannah Meddaugh

Genet Med· April 2022

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De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism.
Maria J Guillen Sacoto, Iva A Tchasovnikarova, Erin Torti, Cara Forster, E Hallie Andrew, Hannah Meddaugh

Am J Hum Genet· August 2020

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A novel missense variant in CHD7, a rare cause of CHARGE syndrome.
Peter Joslyn, Hannah Meddaugh, Jairo Torres, Jessica Patrick-Esteve, Staci Olister

Clin Dysmorphol· July 2020

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Novel HOXA2 variant presenting with microtia and variable hearing impairment in four-generation pedigree.
Hannah R Meddaugh, Regina M Zambrano

Clin Dysmorphol· April 2020

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Gorlin-like phenotype in a patient with a PTCH2 variant of uncertain significance.
Kelsey Casano, Hannah Meddaugh, Regina M Zambrano, Michael Marble, Jairo I Torres

Eur J Med Genet· April 2020

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The oligomeric states of the purified sigma-1 receptor are stabilized by ligands.
Katarzyna A Gromek, Fabian P Suchy, Hannah R Meddaugh, Russell L Wrobel, Loren M LaPointe

J Biol Chem· July 2014

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Improved expression and purification of sigma 1 receptor fused to maltose binding protein by alteration of linker sequence.
Katarzyna A Gromek, Hannah R Meddaugh, Russell L Wrobel, Fabian P Suchy, Craig A Bingman

Protein Expr Purif· June 2013

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Attrition and retention in clinical trials by ethnic origin.
Haleh Sangi-Haghpeykar, Hannah M Meddaugh, Hao Liu, Placido Grino

Contemp Clin Trials· November 2009

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