Publications by authors named "Rebecca Signer"

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Protocol for finding genetic variation associated with unmeasured traits through GenomicSEM common-factor GWAS.
Keira J A Johnston, Rebecca Signer, Laura M Huckins

STAR Protoc· September 2025

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Genome-wide association studies of binge eating behaviour and anorexia nervosa yield insights into the unique and shared biology of eating disorder phenotypes.
Jet D Termorshuizen, Helena L Davies, Sang-Hyuck Lee, Jessica K Dennis, Christopher Hübel, Rebecca H Signer

medRxiv· May 2025

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-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.
Laura Cif, Diane Demailly, Jean-Pierre Lin, Katy E Barwick, Mario Sa, Rebecca Signer

ArXiv· February 2025

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Chronic overlapping pain conditions and nociplastic pain.
Keira J A Johnston, Rebecca Signer, Laura M Huckins

HGG Adv· January 2025

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BMI Interacts with the Genome to Regulate Gene Expression Globally, with Emphasis in the Brain and Gut.
Rebecca Signer, Carina Seah, Hannah Young, Kayla Retallick-Townsley, Agathe De Pins

medRxiv· November 2024

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What Next for Eating Disorder Genetics? Replacing Myths With Facts to Sharpen Our Understanding.
Laura M Huckins, Rebecca Signer, Jessica Johnson, Ya-Ke Wu, Karen S Mitchell

Focus (Am Psychiatr Publ)· July 2024

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Chronic Overlapping Pain Conditions and Nociplastic Pain.
Keira J A Johnston, Rebecca Signer, Laura M Huckins

medRxiv· May 2024

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Common genetic variation impacts stress response in the brain.
Carina Seah, Rebecca Signer, Michael Deans, Heather Bader, Tom Rusielewicz

bioRxiv· December 2023

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Characterization of spastic paraplegia in a family with a novel mutation.
John M Ringman, Naghmeh Dorrani, Sara Gutiérrez Fernández, Rebecca Signer, Julian Martinez-Agosto

Brain Commun· February 2023

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What next for eating disorder genetics? Replacing myths with facts to sharpen our understanding.
Laura M Huckins, Rebecca Signer, Jessica Johnson, Ya-Ke Wu, Karen S Mitchell

Mol Psychiatry· October 2022

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Exploring the clinical and genetic associations of adult weight trajectories using electronic health records in a racially diverse biobank: a phenome-wide and polygenic risk study.
Jiayi Xu, Jessica S Johnson, Rebecca Signer, , Andreas Birgegård

Lancet Digit Health· August 2022

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Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Zishan Wang, Xiao Fan, Yufeng Shen, Meghana S Pagadala, Rebecca Signer

Genome Med· September 2021

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Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain.
Felix Marbach, Georgi Stoyanov, Florian Erger, Constantine A Stratakis, Nikolaos Settas, Rebecca H Signer

Genet Med· August 2021

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Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies.
Kevin E Glinton, Anna C E Hurst, Kevin M Bowling, Ingrid Cristian, Devon Haynes, Rebecca Signer

Am J Med Genet A· May 2021

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14q32.11 microdeletion including CALM1, TTC7B, PSMC1, and RPS6KA5: A new potential cause of developmental and language delay in three unrelated patients.
Celeste C Eno, Jesper Graakjaer, Dea Svaneby, Mathilde Nizon, Jessica Kianmahd, Rebecca Signer

Am J Med Genet A· May 2021

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Expansion of NEUROD2 phenotypes to include developmental delay without seizures.
Emily K Mis, Annalisa G Sega, Rebecca H Signer, Tracy Cartwright, Weizhen Ji

Am J Med Genet A· April 2021

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KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.
Laura Cif, Diane Demailly, Jean-Pierre Lin, Katy E Barwick, Mario Sa, Rebecca Signer

Brain· December 2020

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Novel NUDT2 variant causes intellectual disability and polyneuropathy.
Frank Diaz, Shaweta Khosa, Dmitriy Niyazov, Hane Lee, Richard Person, Rebecca Signer

Ann Clin Transl Neurol· November 2020

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Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases Network.
Heidi Cope, Rebecca Spillmann, Jill A Rosenfeld, Elly Brokamp, Rebecca Signer

Mol Genet Genomic Med· October 2020

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Myopathy associated with homozygous PYROXD1 pathogenic variants detected by genome sequencing.
Jeremy D Woods, Negar Khanlou, Hane Lee, Rebecca Signer, Perry Shieh

Neuropathology· June 2020

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Diagnostic utility of transcriptome sequencing for rare Mendelian diseases.
Hane Lee, Alden Y Huang, Lee-Kai Wang, Amanda J Yoon, Genecee Renteria, Rebecca H Signer

Genet Med· March 2020

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Phenotype delineation of ZNF462 related syndrome.
Paul Kruszka, Tommy Hu, Sungkook Hong, Rebecca Signer, Benjamin Cogné

Am J Med Genet A· October 2019

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ClinPhen extracts and prioritizes patient phenotypes directly from medical records to expedite genetic disease diagnosis.
Cole A Deisseroth, Johannes Birgmeier, Ethan E Bodle, Jennefer N Kohler, Dena R Matalon, Rebecca Signer

Genet Med· July 2019

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Cases from the Undiagnosed Diseases Network: The continued value of counseling skills in a new genomic era.
Ellen F Macnamara, Kelly Schoch, Emily Glanton, Elizabeth Fieg, Elly Brokamp, Rebecca Signer

J Genet Couns· April 2019

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Mutations in STAG2 cause an X-linked cohesinopathy associated with undergrowth, developmental delay, and dysmorphia: Expanding the phenotype in males.
Sureni V Mullegama, Steven D Klein, Rebecca H Signer, , Eric Vilain

Mol Genet Genomic Med· February 2019

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