Publications by authors named "Sandra Cooper"

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The Expanding Clinical and Genetic Spectrum of Muscle Glycogen Storage Disease 0, (GSD0B).
Sarah Donoghue, Smitha Kumble, Pontus Wasling, Lars Alberg, Pia Linton-Dahlöf, Sandra T Cooper

Am J Med Genet A· November 2025

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Expert Consensus on Genetic Diagnostic Approaches for Patients With Limb-Girdle Muscular Dystrophy.
Volker Straub, Amanda R Clause, Sandra Donkervoort, Peter B Kang, Chamindra G Laverty, Sandra T Cooper

Neurology· November 2025

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Evidence-based practices are effective in increasing smoke-free home rules among Black women who smoke.
Dina M Jones, Ashley H Clawson, Jing Jin, Sandilyn Bullock, Katherine Donald, Sandra Cooper

J Natl Cancer Inst Monogr· August 2025

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Untargeted proteomics enables ultra-rapid variant prioritisation in mitochondrial and other rare diseases.
Daniella H Hock, Nikeisha J Caruana, Liana N Semcesen, Nicole J Lake, Luke E Formosa, Sandra T Cooper

Genome Med· May 2025

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Congenital Titinopathy: Comprehensive Characterization of the Most Severe End of the Disease Spectrum.
Sandra Coppens, Nicolas Deconinck, Patricia Sullivan, Andrei Smolnikov, Joshua S Clayton, Sandra T Cooper

Ann Neurol· April 2025

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Borzoi decodes the complex DNA signals governing gene regulation.
Sandra T Cooper

Nat Genet· April 2025

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Caregiver restrictions on child access to tobacco in the home and home Smoking/Vaping bans among Black/African American women caregivers who smoke and live in Resource-limited, rural areas.
Ashley H Clawson, Dina M Jones, Jing Jin, Ruofei Du, Sandilyn Bullock, Sandra Cooper

Prev Med Rep· December 2024

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Deep Sequencing and Phenotyping in an Australian Tuberous Sclerosis Complex "No Mutations Identified" Cohort.
Clara W T Chung, Adam M Bournazos, Lok Chi Denise Chan, Vanessa Sarkozy, John Lawson, Sandra T Cooper

Mol Genet Genomic Med· October 2024

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Expert panel curation of 31 genes in relation to limb girdle muscular dystrophy.
Shruthi Mohan, Shannon McNulty, Courtney Thaxton, Marwa Elnagheeb, Emma Owens, Sandra T Cooper

Ann Clin Transl Neurol· September 2024

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Refining clinically relevant parameters for mis-splicing risk in shortened introns with donor-to-branchpoint space constraint.
Katharine Y Zhang, Himanshu Joshi, Rhett G Marchant, Samantha J Bryen, Ruebena Dawes, Sandra T Cooper

Eur J Hum Genet· August 2024

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Genome sequencing enables diagnosis and treatment of SLC5A6 neuropathy.
Lisa G Riley, Subrata Sabui, Hamid M Said, Aram Niaz, Katta M Girisha, Sandra T Cooper

Eur J Hum Genet· August 2024

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RNA variant assessment using transactivation and transdifferentiation.
Emmylou C Nicolas-Martinez, Olivia Robinson, Christian Pflueger, Alison Gardner, Mark A Corbett, Sandra T Cooper

Am J Hum Genet· August 2024

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Unraveling facets of MECOM-associated syndrome: somatic genetic rescue, clonal hematopoiesis, and phenotype expansion.
Parvathy Venugopal, Peer Arts, Lucy C Fox, Annet Simons, Devendra K Hiwase, Sandra T Cooper

Blood Adv· July 2024

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Genome Sequencing for Diagnosing Rare Diseases.
Monica H Wojcik, Gabrielle Lemire, Eva Berger, Maha S Zaki, Mariel Wissmann, Sandra T Cooper

N Engl J Med· June 2024

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Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone.
Rhett G Marchant, Samantha J Bryen, Melanie Bahlo, Anita Cairns, Katherine R Chao, Sandra T Cooper

Ann Clin Transl Neurol· May 2024

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Expert Panel Curation of 31 Genes in Relation to Limb Girdle Muscular Dystrophy.
Shruthi Mohan, Shannon McNulty, Courtney Thaxton, Marwa Elnagheeb, Emma Owens, Sandra T Cooper

bioRxiv· May 2024

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Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy.
Ana Töpf, Dan Cox, Irina T Zaharieva, Valeria Di Leo, Jaakko Sarparanta, Sandra T Cooper

Nat Genet· March 2024

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Lmod2 is necessary for effective skeletal muscle contraction.
Tania M Larrinaga, Gerrie P Farman, Rachel M Mayfield, Michaela Yuen, Rebecca C Ahrens-Nicklas, Sandra T Cooper

Sci Adv· March 2024

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Biallelic ATP2B1 variants as a likely cause of a novel neurodevelopmental malformation syndrome with primary hypoparathyroidism.
Patrick Yap, Lisa G Riley, Purvi M Kakadia, Stefan K Bohlander, Ben Curran, Sandra T Cooper

Eur J Hum Genet· January 2024

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Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis.
Monica H Wojcik, Gabrielle Lemire, Maha S Zaki, Mariel Wissman, Wathone Win, Sandra T Cooper

medRxiv· August 2023

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Connective tissue presentation in two families expands the phenotypic spectrum of PYROXD1 disorders.
Frances J Evesson, Gregory Dziaduch, Samantha J Bryen, Francesca Moore, Sara Pittman, Sandra T Cooper

Hum Mol Genet· June 2023

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Compound heterozygous splicing variants expand the genotypic spectrum of EMC1-related disorders.
Samantha J Bryen, Katharine Zhang, Gregory Dziaduch, Shobhana Bommireddipalli, Take Naseri, Sandra T Cooper

Clin Genet· May 2023

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SpliceVault predicts the precise nature of variant-associated mis-splicing.
Ruebena Dawes, Adam M Bournazos, Samantha J Bryen, Shobhana Bommireddipalli, Rhett G Marchant, Sandra T Cooper

Nat Genet· February 2023

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Severe NAD(P)HX Dehydratase (NAXD) Neurometabolic Syndrome May Present in Adulthood after Mild Head Trauma.
Nicole J Van Bergen, Karen Gunanayagam, Adam M Bournazos, Adhish S Walvekar, Marc O Warmoes, Sandra T Cooper

Int J Mol Sci· February 2023

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Case report: Adult-onset limb girdle muscular dystrophy in sibling pair due to novel homozygous missense variant.
Matthew Katz, Leigh B Waddell, Michaela Yuen, Samantha J Bryen, Emily Oates, Sandra T Cooper

Front Neurol· January 2023

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