Carol J. Saunders

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Many clinical laboratories performing next-generation sequencing have no future plans to migrate to GRCh38

Lei Zhang, Midhat S. Farooqi, Byunggil Yoo, 2021 .

The Future of Next-Generation Sequencing in Neurology.

Carol J. Saunders, C. Saunders, S. Soden, 2015, JAMA neurology.

Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders

Xuan Yuan, Stephen F. Kingsmore, Laurie D. Smith, 2014, Science Translational Medicine.

A novel epileptic encephalopathy mutation in KCNB1 disrupts Kv2.1 ion selectivity, expression, and localization

Stephen F. Kingsmore, James S. Trimmer, Jon T. Sack, 2015, The Journal of general physiology.

Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations.

Elisha D O Roberson, Carol J. Saunders, Lina Karam, 2015, Blood.

MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement

Beryl B. Cummings, Carol J. Saunders, C. Saunders, 2019, Acta Neuropathologica.

Comprehensive ZEB2 gene analysis for Mowat–Wilson syndrome in a North American cohort: A suggested approach to molecular diagnostics

Carol J. Saunders, H. Ardinger, Weiwei Zhao, 2009, American journal of medical genetics. Part A.

Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy.

Carol J. Saunders, R. Pfundt, E. Bertini, 2016, American journal of human genetics.

Heterozygous variants in KMT2E cause a spectrum of neurodevelopmental disorders and epilepsy

Carol J. Saunders, C. Saunders, I. Thiffault, 2019, bioRxiv.

A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome

Carol J. Saunders, E. Zackai, G. Cooper, 2020, European Journal of Human Genetics.

Functional analysis of the human galactose-1-phosphate uridyltransferase promoter in Duarte and LA variant galactosemia.

Carol J. Saunders, C. Saunders, L. Elsas, 2001, Molecular genetics and metabolism.

Diagnostics of Primary Immunodeficiencies through Next-Generation Sequencing

Carol J. Saunders, E. Farrow, C. Saunders, 2016, Front. Immunol..

The NSIGHT1-randomized controlled trial: rapid whole-genome sequencing for accelerated etiologic diagnosis in critically ill infants

Laurie D. Smith, Neil A. Miller, Carol J. Saunders, 2017, npj Genomic Medicine.

Neurodevelopmental Disorders Caused by De Novo Variants in KCNB1 Genotypes and Phenotypes

Ethan M. Goldberg, Carol J. Saunders, C. Saunders, 2017, JAMA neurology.

Instability of the mitochondrial alanyl-tRNA synthetase underlies fatal infantile-onset cardiomyopathy

Robert W. Taylor, Carol J. Saunders, C. Saunders, 2018, Human molecular genetics.

GPR37L1 modulates seizure susceptibility: Evidence from mouse studies and analyses of a human GPR37L1 variant

Carol J. Saunders, E. Farrow, C. Saunders, 2017, Neurobiology of Disease.

Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine

Carol J. Saunders, C. Saunders, W. Newman, 2021, Nature communications.

SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.

Meghan C Towne, Carol J. Saunders, B. V. van Bon, 2021, American journal of human genetics.

Examination of rare genetic variants in dental enamel genes: The potential role of next-generation sequencing in primary dental care.

Carol J. Saunders, E. Farrow, C. Saunders, 2019, Orthodontics & craniofacial research.

Hypotonia and intellectual disability without dysmorphic features in a patient with PIGN-related disease

Neil A. Miller, Carol J. Saunders, N. Miller, 2017, BMC Medical Genetics.

Incidental diagnosis of tuberous sclerosis complex by exome sequencing in three families with subclinical findings

Carol J. Saunders, E. Farrow, L. Willig, 2018, neurogenetics.

Next-generation community genetics for low- and middle-income countries

Neil A. Miller, Carol J. Saunders, S. Kingsmore, 2012, Genome Medicine.

Targeted next-generation sequencing revealed MYD88 deficiency in a child with chronic yersiniosis and granulomatous lymphadenitis.

Carol J. Saunders, E. Farrow, C. Saunders, 2016, The Journal of allergy and clinical immunology.

Nager syndrome in patient lacking acrofacial dysostosis: Expanding the phenotypic spectrum of SF3B4‐related disease

Carol J. Saunders, C. Saunders, M. Cadieux-Dion, 2021, American journal of medical genetics. Part A.

Rapid Whole-Genome Sequencing for Genetic Disease Diagnosis in Neonatal Intensive Care Units

Peter Saffrey, Sean Humphray, Aaron Noll, 2012, Science Translational Medicine.

Neonatal Intensive Care Units Rapid Whole-Genome Sequencing for Genetic Disease Diagnosis in

Neil A. Miller, Carol J. Saunders, E. H. Margulies, 2012 .

Biochemically deleterious human NFKB1 variants underlie an autosomal dominant form of common variable immunodeficiency

Carol J. Saunders, J. Casanova, C. Saunders, 2021, The Journal of experimental medicine.

DMD Trp3X nonsense mutation associated with a founder effect in North American families with mild Becker muscular dystrophy

Carol J. Saunders, G. Comi, R. Finkel, 2009, Neuromuscular Disorders.

Mutation Update: The Spectra of Nebulin Variants and Associated Myopathies

Jocelyn Laporte, Carol J. Saunders, K. Pelin, 2014, Human mutation.

On the verge of diagnosis: Detection, reporting, and investigation of de novo variants in novel genes identified by clinical sequencing

Neil A. Miller, Carol J. Saunders, E. Farrow, 2018, Human mutation.

Diagnosis of mitochondrial disorders by concomitant next-generation sequencing of the exome and mitochondrial genome.

Laurie D. Smith, Neil A. Miller, Carol J. Saunders, 2013, Genomics.

Allele drop-out in the MECP2 gene due to G-quadruplex and i-motif sequences when using polymerase chain reaction-based diagnosis for Rett syndrome.

Carol J. Saunders, C. Saunders, M. Friez, 2010, Genetic testing and molecular biomarkers.

Challenges in genetic testing: clinician variant interpretation processes and the impact on clinical care

Carol J. Saunders, E. Farrow, L. Willig, 2021, Genetics in Medicine.

Spectrum of KV2.1 Dysfunction in KCNB1‐Associated Neurodevelopmental Disorders

Ethan M. Goldberg, Katarina L. Fabre, Robert P. Carson, 2019, Annals of neurology.

An Integrated Clinico-Metabolomic Model Improves Prediction of Death in Sepsis

Stephanie J. Reisinger, Neil A. Miller, Carol J. Saunders, 2013, Science Translational Medicine.

Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition

Golder N Wilson, Carol J. Saunders, J. Rosenfeld, 2022, Molecular Psychiatry.

Novel exon 1 mutations in MECP2 implicate isoform MeCP2_e1 in classical Rett syndrome

Carol J. Saunders, J. Vincent, C. Saunders, 2009, American journal of medical genetics. Part A.

Matchmaking facilitates the diagnosis of an autosomal‐recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase (TRIT1) gene

Carol J. Saunders, E. Sell, E. Shoubridge, 2017, Human mutation.

A patient with polymerase E1 deficiency (POLE1): clinical features and overlap with DNA breakage/instability syndromes

Neil A. Miller, Carol J. Saunders, S. Kingsmore, 2015, BMC Medical Genetics.

Clinical, Immunological, and Functional Characterization of Six Patients with Very High IgM Levels

Carol J. Saunders, C. Saunders, V. Gallo, 2020, Journal of clinical medicine.

De novo frameshift mutation in ASXL3 in a patient with global developmental delay, microcephaly, and craniofacial anomalies

Laurie D. Smith, Neil A. Miller, Carol J. Saunders, 2013, BMC Medical Genomics.

A Novel Variant in the STAT3 Gene Associated with Autoimmune Enteropathy in a Father–Son Duo

Carol J. Saunders, S. Kingsmore, C. Saunders, 2014 .

Chapter 98 – Sepsis

Carol J. Saunders, S. Kingsmore, C. Woods, 2013 .

Diagnosis and management in Pitt‐Hopkins syndrome: First international consensus statement

Carol J. Saunders, R. Hennekam, J. Clayton-Smith, 2019, Clinical genetics.

Deep Sequencing of Patient Genomes for Disease Diagnosis: When Will It Become Routine?

Carol J. Saunders, S. Kingsmore, C. Saunders, 2011, Science Translational Medicine.

Adopting orphans: comprehensive genetic testing of Mendelian diseases of childhood by next-generation sequencing

Neil A. Miller, Carol J. Saunders, S. Kingsmore, 2011, Expert review of molecular diagnostics.

Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine

Carol J. Saunders, C. Saunders, A. Fry, 2021, Nature Communications.

Mutations in MECP2 exon 1 in classical rett patients disrupt MECP2_e1 transcription, but not transcription of MECP2_e2

Carol J. Saunders, J. Vincent, Yuzhi Zhang, 2012, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia.

Stephan J Sanders, Carol J. Saunders, C. Freitag, 2018, American journal of human genetics.

MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates

Laurie D. Smith, Neil A. Miller, Carol J. Saunders, 2015, Nature Genetics.

Clinical detection of deletion structural variants in whole-genome sequences

Byunggil Yoo, Laurie D. Smith, Julie Cakici, 2016, npj Genomic Medicine.

Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings.

Laurie D. Smith, Shannon L Carpenter, Greyson Twist, 2015, The Lancet. Respiratory medicine.

Functionally impaired RPL8 variants associated with Diamond–Blackfan anemia and a Diamond–Blackfan anemia‐like phenotype

Scott C. Smith, Carol J. Saunders, C. Saunders, 2021, Human mutation.

Clinical Course of Acute Maxillary Sinusitis Documented by Sequential MRI Scanning

Carol J. Saunders, C. Saunders, J. Allison, 1994 .

Exome Sequencing Reveals De Novo Germline Mutation of the Mammalian Target of Rapamycin (MTOR) in a Patient with Megalencephaly and Intractable Seizures

Laurie D. Smith, Neil A. Miller, Carol J. Saunders, 2013 .

Novel heterozygous pathogenic variants in CHUK in a patient with AEC-like phenotype, immune deficiencies and 1q21.1 microdeletion syndrome: a case report

Neil A. Miller, Carol J. Saunders, E. Farrow, 2018, BMC Medical Genetics.