Publications by authors named "Jill Murrell"

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USP25 in genetic generalized epilepsy: a gene under scrutiny.
Maryam Erfanian Omidvar, Jill R Murrell, Anna J Prentice, Ingo Helbig, Holger Lerche

Brain· October 2025

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Distinct tau filament folds in human MAPT mutants P301L and P301T.
Manuel Schweighauser, Yang Shi, Alexey G Murzin, Holly J Garringer, Ruben Vidal, Jill R Murrell

Nat Struct Mol Biol· August 2025

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Tau filaments with the Alzheimer fold in human MAPT mutants V337M and R406W.
Chao Qi, Sofia Lövestam, Alexey G Murzin, Sew Peak-Chew, Catarina Franco, Jill R Murrell

Nat Struct Mol Biol· July 2025

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Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability.
Pascale Sabeh, Samantha A Dumas, Claudia Maios, Hiba Daghar, Marek Korzeniowski, Jill R Murrell

Am J Hum Genet· January 2025

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Novel tau filament folds in individuals with mutations P301L and P301T.
Manuel Schweighauser, Yang Shi, Alexey G Murzin, Holly J Garringer, Ruben Vidal, Jill R Murrell

bioRxiv· August 2024

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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, Jill R Murrell

Am J Hum Genet· July 2024

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Fetus with multiple congenital anomaly syndrome caused by novel variant in ATP1A2.
Natalie Burrill, Nahla Khalek, Ana G Cristancho, Beverly Coleman, Jill Murrell

Prenat Diagn· May 2024

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Tau filaments with the Alzheimer fold in cases with mutations V337M and R406W.
Chao Qi, Sofia Lövestam, Alexey G Murzin, Sew Peak-Chew, Catarina Franco, Jill R Murrell

bioRxiv· April 2024

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Comprehensive Gene Panel Testing for Hearing Loss in Children: Understanding Factors Influencing Diagnostic Yield.
Nobuko Yamamoto, Jorune Balciuniene, Tiffiney Hartman, Maria Alejandra Diaz-Miranda, Emma Bedoukian, Murrell R Jill

J Pediatr· November 2023

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Retrospective identification of patients with SRRM2-related neurodevelopmental disorder in a single tertiary children's hospital.
Kelly E Regan-Fendt, Alyssa L Rippert, Livija Medne, Cara M Skraban, Jeshua DeJesse, Jill R Murrell

Am J Med Genet A· August 2023

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Mutation ∆K281 in MAPT causes Pick's disease.
Manuel Schweighauser, Holly J Garringer, Therése Klingstedt, K Peter R Nilsson, Masami Masuda-Suzukake, Jill R Murrell

Acta Neuropathol· August 2023

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Monoallelic intragenic POU3F2 variants lead to neurodevelopmental delay and hyperphagic obesity, confirming the gene's candidacy in 6q16.1 deletions.
Ria Schönauer, Wenjun Jin, Christin Findeisen, Irene Valenzuela, Laura Alice Devlin, Jill Murrell

Am J Hum Genet· June 2023

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Human germline heterozygous gain-of-function STAT6 variants cause severe allergic disease.
Mehul Sharma, Daniel Leung, Mana Momenilandi, Lauren C W Jones, Lucia Pacillo, Jill R Murrell

J Exp Med· May 2023

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Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder.
Silvestre Cuinat, Mathilde Nizon, Bertrand Isidor, Alexander Stegmann, Richard H van Jaarsveld, Jill R Murrell

Genet Med· August 2022

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11C-PiB PET can underestimate brain amyloid-β burden when cotton wool plaques are numerous.
Eric E Abrahamson, Julia K Kofler, Carl R Becker, Julie C Price, Kathy L Newell, Jill R Murrell

Brain· June 2022

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Expanding the phenotypic spectrum of ARCN1-related syndrome.
Alyssa L Ritter, Jessica Gold, Hiroshi Hayashi, Amanda M Ackermann, Stephanie Hanke, Jill R Murrell

Genet Med· June 2022

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Molecular Diagnostic Outcomes from 700 Cases: What Can We Learn from a Retrospective Analysis of Clinical Exome Sequencing?
Jill R Murrell, Addie May I Nesbitt, Samuel W Baker, Kieran B Pechter, Jorune Balciuniene

J Mol Diagn· March 2022

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The broader phenotypic spectrum of congenital caudal abnormalities associated with mutations in the caudal type homeobox 2 gene.
Servi J C Stevens, Constance T R M Stumpel, Karin E M Diderich, Marjon A van Slegtenhorst, Mary-Alice Abbott, Jill R Murrell

Clin Genet· February 2022

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Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior.
Holly K Harris, Tojo Nakayama, Jenny Lai, Boxun Zhao, Nikoleta Argyrou, Jill Murrell

Genet Med· June 2021

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De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay.
Lisenka E L M Vissers, Sreehari Kalvakuri, Elke de Boer, Sinje Geuer, Machteld Oud, Jill R Murrell

Am J Hum Genet· July 2020

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MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.
Christopher C Y Mak, Dan Doherty, Angela E Lin, Nancy Vegas, Megan T Cho, Jill R Murrell

Brain· January 2020

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A highly sensitive and specific workflow for detecting rare copy-number variants from exome sequencing data.
Ramakrishnan Rajagopalan, Jill R Murrell, Minjie Luo, Laura K Conlin

Genome Med· January 2020

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Diffuse Lewy Body Disease and Alzheimer Disease: Neuropathologic Phenotype Associated With the PSEN1 p.A396T Mutation.
Dibson D Gondim, Adrian Oblak, Jill R Murrell, Rose Richardson, Francine Epperson

J Neuropathol Exp Neurol· July 2019

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Dysregulation of TDP-43 intracellular localization and early onset ALS are associated with a TARDBP S375G variant.
Kathy Newell, Francesca Paron, Miguel Mompean, Jill Murrell, Elisa Salis

Brain Pathol· May 2019

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Automated Clinical Exome Reanalysis Reveals Novel Diagnoses.
Samuel W Baker, Jill R Murrell, Addie I Nesbitt, Kieran B Pechter, Jorune Balciuniene

J Mol Diagn· January 2019

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