Publications by authors named "Amy Crunk"

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Homozygous variants in EIF3K associated with neurodevelopmental delay, microcephaly, and growth retardation.
Bobbi McGivern, Tess Holling, Maria J Guillen Sacoto, Hákon Gudbjartsson, Ibrahim M Abdelrazek, Amy Crunk

HGG Adv· July 2025

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A proposed role for CDO1 in CNS development: Three children with rare missense variants and a neurological phenotype.
Leah Rowe, Sureni V Mullegama, Rachel Lombardo, Caitlin Barnes, Shelley Towner, Amy Crunk

HGG Adv· April 2025

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PSMD11 loss-of-function variants correlate with a neurobehavioral phenotype, obesity, and increased interferon response.
Wallid Deb, Cory Rosenfelt, Virginie Vignard, Jonas Johannes Papendorf, Sophie Möller, Amy Crunk

Am J Hum Genet· July 2024

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Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy.
Sandra Donkervoort, Payam Mohassel, Melanie O'Leary, Devon E Bonner, Taila Hartley, Amy Crunk

Ann Clin Transl Neurol· March 2024

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De novo variants in DENND5B cause a neurodevelopmental disorder.
Marcello Scala, Valeria Tomati, Matteo Ferla, Mariateresa Lena, Julie S Cohen, Amy Crunk

Am J Hum Genet· March 2024

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Cohen syndrome and early-onset epileptic encephalopathy in male triplets: two disease-causing mutations in VPS13B and NAPB.
Alice AbdelAleem, Naim Haddad, Ghada Al-Ettribi, Amy Crunk, Ahmed Elsotouhy

Neurogenetics· April 2023

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Consolidation of the clinical and genetic definition of a related neurodevelopmental syndrome.
Marco Angelozzi, Anirudha Karvande, Arnaud N Molin, Alyssa L Ritter, Jacqueline M M Leonard, Amy Crunk

J Med Genet· November 2022

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ADGRL1 haploinsufficiency causes a variable spectrum of neurodevelopmental disorders in humans and alters synaptic activity and behavior in a mouse model.
Antonio Vitobello, Benoit Mazel, Vera G Lelianova, Alice Zangrandi, Evelina Petitto, Amy Crunk

Am J Hum Genet· August 2022

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Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome.
Sarah E M Stephenson, Gregory Costain, Laura E R Blok, Michael A Silk, Thanh Binh Nguyen, Amy Crunk

Am J Hum Genet· April 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, Amy Crunk

Genet Med· November 2021

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Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss.
Elodie M Richard, Somayeh Bakhtiari, Ashley P L Marsh, Rauan Kaiyrzhanov, Matias Wagner, Amy Crunk

Am J Hum Genet· October 2021

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Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature.
Dmitrijs Rots, Eric Chater-Diehl, Alexander J M Dingemans, Sarah J Goodman, Michelle T Siu, Amy Crunk

Am J Hum Genet· June 2021

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A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome.
Shereen G Ghosh, Marcello Scala, Christian Beetz, Guy Helman, Valentina Stanley, Amy Crunk

Eur J Hum Genet· February 2021

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TMX2 Is a Crucial Regulator of Cellular Redox State, and Its Dysfunction Causes Severe Brain Developmental Abnormalities.
Laura V Vandervore, Rachel Schot, Chiara Milanese, Daphne J Smits, Esmee Kasteleijn, Amy Crunk

Am J Hum Genet· December 2019

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Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature.
Erin Torti, Boris Keren, Elizabeth E Palmer, Zehua Zhu, Alexandra Afenjar, Amy Crunk

Genet Med· September 2019

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Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons.
Scott Bell, Justine Rousseau, Huashan Peng, Zahia Aouabed, Pierre Priam, Amy Crunk

Am J Hum Genet· May 2019

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Overrepresentation of pregnancies conceived by artificial reproductive technology in prenatally identified fetuses with Beckwith-Wiedemann syndrome.
John P Johnson, Linda Beischel, Corbin Schwanke, Katie Styren, Amy Crunk

J Assist Reprod Genet· June 2018

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De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder.
Lot Snijders Blok, Susan M Hiatt, Kevin M Bowling, Jeremy W Prokop, Krysta L Engel, Amy Crunk

Hum Genet· May 2018

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Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A.
Ian M Campbell, Svetlana A Yatsenko, Patricia Hixson, Tyler Reimschisel, Matthew Thomas, Amy Crunk

Genet Med· October 2012

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A new locus for autosomal dominant generalized epilepsy associated with mild mental retardation on chromosome 3p.
Marcia A Blair, Bassel Abou-Khalil, Amy Crunk, Jonathan L Haines, Peter Hedera

Epilepsia· May 2011

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A genome-wide linkage screen in the Amish with Parkinson disease points to chromosome 6.
Anna C Cummings, Stephen L Lee, Jacob L McCauley, Lan Jiang, Amy Crunk

Ann Hum Genet· May 2011

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A genome-wide linkage analysis of dementia in the Amish.
Daniel W Hahs, Jacob L McCauley, Amy E Crunk, Lynne L McFarland, Perry C Gaskell

Am J Med Genet B Neuropsychiatr Genet· March 2006

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Maternal lineages and Alzheimer disease risk in the Old Order Amish.
Joelle M van der Walt, William K Scott, Susan Slifer, P C Gaskell, Eden R Martin, Amy Crunk

Hum Genet· October 2005

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Autosomal dominant lateral temporal epilepsy: two families with novel mutations in the LGI1 gene.
Peter Hedera, Bassel Abou-Khalil, Amy E Crunk, Kelly A Taylor, Jonathan L Haines

Epilepsia· March 2004

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