Publications by authors named "Hannah Happ"

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DeepRNA-Reg: a deep-learning based approach for comparative analysis of CLIP experiments.
Harshaan Sekhon, Robin Kageyama, Neil T Sprenkle, Hannah C Happ, Eric J Wigton

RNA Biol· December 2025

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AVITI sequencing of a four-generation CEPH/Utah pedigree confirms low mutation rates at homopolymer loci despite their low sequence complexity.
Hannah C Happ, Thomas A Sasani, Derek Warner, Deborah W Neklason, Aaron R Quinlan

bioRxiv· September 2025

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Human de novo mutation rates from a four-generation pedigree reference.
David Porubsky, Harriet Dashnow, Thomas A Sasani, Glennis A Logsdon, Pille Hallast, Hannah C Happ

Nature· July 2025

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A familial, telomere-to-telomere reference for human mutation and recombination from a four-generation pedigree.
David Porubsky, Harriet Dashnow, Thomas A Sasani, Glennis A Logsdon, Pille Hallast, Hannah C Happ

bioRxiv· August 2024

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Long-read sequencing and profiling of RNA-binding proteins reveals the pathogenic mechanism of aberrant splicing of an poison exon in epilepsy.
Hannah C Happ, Patricia N Schneider, Jung Hwa Hong, Eleanor Goes, Masha Bandouil

bioRxiv· May 2023

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Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of .
Hannah C Happ, Lynette G Sadleir, Matthew Zemel, Guillem de Valles-Ibáñez, Michael S Hildebrand

Neurology· February 2023

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mTORC1 functional assay reveals SZT2 loss-of-function variants and a founder in-frame deletion.
Jeffrey D Calhoun, Miriam C Aziz, Hannah C Happ, Jonathan Gunti, Colleen Gleason

Brain· June 2022

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Ultrasound-mediated blood-brain barrier opening increases cell-free DNA in a time-dependent manner.
Daniel Y Zhang, Andrew Gould, Hannah C Happ, Mark W Youngblood, Crismita Dmello

Neurooncol Adv· November 2021

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A 2020 View on the Genetics of Developmental and Epileptic Encephalopathies.
Hannah C Happ, Gemma L Carvill

Epilepsy Curr· March 2020

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Increased Hematopoietic Extracellular RNAs and Vesicles in the Lung during Allergic Airway Responses.
Heather H Pua, Hannah C Happ, Carleigh J Gray, Darryl J Mar, Ni-Ting Chiou

Cell Rep· January 2019

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MicroRNA regulation of type 2 innate lymphoid cell homeostasis and function in allergic inflammation.
Priti B Singh, Heather H Pua, Hannah C Happ, Christoph Schneider, Jakob von Moltke

J Exp Med· December 2017

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8q21.11 microdeletion in two patients with syndromic peters anomaly.
Hannah Happ, Kala F Schilter, Eric Weh, Linda M Reis, Elena V Semina

Am J Med Genet A· September 2016

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Case report of homozygous deletion involving the first coding exons of GCNT2 isoforms A and B and part of the upstream region of TFAP2A in congenital cataract.
Hannah Happ, Eric Weh, Deborah Costakos, Linda M Reis, Elena V Semina

BMC Med Genet· September 2016

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Whole exome sequence analysis of Peters anomaly.
Eric Weh, Linda M Reis, Hannah C Happ, Alex V Levin, Patricia G Wheeler

Hum Genet· December 2014

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