Joshua L. Deignan

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Clinical Implementation of Next-Generation Sequencing (NGS) Assays

Joshua L. Deignan, 2018, Genomic Applications in Pathology.

Implementation of Genome Sequencing Assays

Joshua L. Deignan, 2015 .

ACMG clinical laboratory standards for next-generation sequencing

Joshua L. Deignan, H. Rehm, J. Berg, 2013, Genetics in Medicine.

Validation of Candidate Causal Genes for Abdominal Obesity Which Affect Shared Metabolic Pathways and Networks

Xia Yang, Eric E. Schadt, Joshua L. Deignan, 2009, Nature Genetics.

A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories

Joshua L. Deignan, W. Chung, N. Spinner, 2016, Genetics in Medicine.

Patient re-contact after revision of genomic test results: points to consider—a statement of the American College of Medical Genetics and Genomics (ACMG)

Joshua L. Deignan, David T. Miller, R. Pyeritz, 2018, Genetics in Medicine.

Assessing the necessity of confirmatory testing for exome sequencing results in a clinical molecular diagnostic laboratory

Eric Vilain, Stanley F. Nelson, Wayne W. Grody, 2014, Genetics in Medicine.

Clinical exome sequencing for genetic identification of rare Mendelian disorders.

Eric Vilain, Samuel P Strom, Michelle Fox, 2014, JAMA.

Early Infantile Epileptic Encephalopathy with a de novo variant in ZEB2 identified by exome sequencing.

Joshua L. Deignan, J. Graham, R. Sankar, 2016, European journal of medical genetics.

A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders

Joshua L. Deignan, D. Geschwind, S. Nelson, 2020, Human mutation.

OncoKids: A Comprehensive Next-Generation Sequencing Panel for Pediatric Malignancies.

Joshua L. Deignan, F. Hazard, J. Biegel, 2018, The Journal of molecular diagnostics : JMD.

Next-generation Sequencing in Clinical Molecular Diagnostics

Joshua L. Deignan, W. Grody, J. Bosch, 2011 .

Instability of a dinucleotide repeat in the 3′‐untranslated region (UTR) of the microsomal prostaglandin E synthase‐1 (mPGES‐1) gene in microsatellite instability‐high (MSI‐H) colorectal carcinoma

Joshua L. Deignan, W. Grody, H. Herschman, 2015, Molecular Oncology.

Guanidino compound levels in blood, cerebrospinal fluid, and post-mortem brain material of patients with argininemia.

Joshua L. Deignan, P. D. De Deyn, S. Cederbaum, 2010, Molecular genetics and metabolism.

Increased plasma and tissue guanidino compounds in a mouse model of hyperargininemia.

Joshua L. Deignan, W. Grody, P. D. De Deyn, 2008, Molecular genetics and metabolism.

Ornithine deficiency in the arginase double knockout mouse.

Joshua L. Deignan, W. Grody, W. O'Brien, 2006, Molecular genetics and metabolism.

Polyamine homeostasis in arginase knockout mice.

Joshua L. Deignan, W. Grody, W. O'Brien, 2007, American journal of physiology. Cell physiology.

Biochemical, molecular, and clinical characteristics of children with short chain acyl-CoA dehydrogenase deficiency detected by newborn screening in California.

Joshua L. Deignan, S. Cederbaum, J. Abdenur, 2012, Molecular genetics and metabolism.

Clinical exome sequencing in neurogenetic and neuropsychiatric disorders

Joshua L. Deignan, S. Nelson, B. Fogel, 2016, Annals of the New York Academy of Sciences.

Electric Field Induced Release and Measurement (EFIRM): Characterization and Technical Validation of a Novel Liquid Biopsy Platform in Plasma and Saliva.

Joshua L. Deignan, Yi-Lin Chen, Chung-Liang Ho, 2020, The Journal of molecular diagnostics : JMD.

Estimating the relative frequency of leukodystrophies and recommendations for carrier screening in the era of next‐generation sequencing

Joshua L. Deignan, Lora J. H. Bean, J. Rosenfeld, 2020, American journal of medical genetics. Part A.

Contrasting features of urea cycle disorders in human patients and knockout mouse models.

Joshua L. Deignan, W. Grody, S. Cederbaum, 2008, Molecular genetics and metabolism.

De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing

Joshua L. Deignan, S. Nelson, W. Grody, 2014, BMC Medical Genetics.

Molecular Diagnosis of Cystic Fibrosis

Joshua L. Deignan, W. Grody, 2016, Current protocols in human genetics.

Homozygosity for the A431E mutation in PSEN1 presenting with a relatively aggressive phenotype

Joshua L. Deignan, J. Ringman, V. Kimonis, 2019, Neuroscience Letters.

Addendum: Technical standards and guidelines for spinal muscular atrophy testing.

Joshua L. Deignan, H. Reddi, S. Guha, 2020, Genetics in medicine : official journal of the American College of Medical Genetics.

Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach

Soma Das, Heidi L Rehm, Brian H Shirts, 2018, Human mutation.

Points to consider in the detection of germline structural variants using next-generation sequencing: A statement of the American College of Medical Genetics and Genomics (ACMG).

Joshua L. Deignan, E. Thorland, E. Riggs, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Clinical utility of pharmacogenetic biomarkers in cardiovascular therapeutics: a challenge for clinical implementation.

Joshua L. Deignan, J. Rotter, W. Grody, 2012, Pharmacogenomics.

Identification and validation of genes affecting aortic lesions in mice.

Joshua L. Deignan, E. Schadt, Jun Zhu, 2010, The Journal of clinical investigation.

OncoKids

Joshua L. Deignan, F. Hazard, J. Biegel, 2018, The Journal of Molecular Diagnostics.

Effects of a Mutation in the HSPE1 Gene Encoding the Mitochondrial Co-chaperonin HSP10 and Its Potential Association with a Neurological and Developmental Disorder

Joshua L. Deignan, P. Bross, A. Azem, 2016, Front. Mol. Biosci..

DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies

Joshua L. Deignan, Jessie R Jackson, E. Zackai, 2015, European Journal of Human Genetics.

Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons.

Joshua L. Deignan, T. Bourgeron, R. Delorme, 2019, American journal of human genetics.

Is it time to retire fragile X testing as a first-tier test for developmental delay, intellectual disability, and autism spectrum disorder?

Joshua L. Deignan, W. Grody, S. Cederbaum, 2017, Genetics in Medicine.

De novo nonsense mutations in KAT6A, a lysine acetyl-transferase gene, cause a syndrome including microcephaly and global developmental delay.

Joshua L. Deignan, S. Nelson, W. Grody, 2015, American journal of human genetics.

Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia.

Joshua L. Deignan, D. Geschwind, S. Nelson, 2014, JAMA neurology.

Variation in pre-PCR processing of FFPE samples leads to discrepancies in BRAF and EGFR mutation detection: a diagnostic RING trial

Marilyn M. Li, Joshua L. Deignan, R. Butler, 2014, Journal of Clinical Pathology.

Incidental detection of acquired variants in germline genetic and genomic testing: a points to consider statement of the American College of Medical Genetics and Genomics (ACMG)

Joshua L. Deignan, H. Reddi, E. Chao, 2021, Genetics in Medicine.

Diagnostic Molecular Genetics

Joshua L. Deignan, W. Grody, 2019, Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics.

An infant with MLH3 variants, FOXG1‐duplication and multiple, benign cranial and spinal tumors: A clinical exome sequencing study

Joshua L. Deignan, W. Grody, S. Kantarci, 2016, Genes, chromosomes & cancer.

Mutations in ACTL 6 B cause neurodevelopmental deficits and epilepsy and lead to 1 loss of dendrites in human neurons 2 3

Anne, Fassi, Joshua L. Deignan, 2019 .

Deaf Genetic Testing and Psychological Well-Being in Deaf Adults

Joshua L. Deignan, J. Sinsheimer, W. Grody, 2013, Journal of Genetic Counseling.

Clinical Exome Reanalysis: Current Practice and Beyond

Joshua L. Deignan, S. Baker, A. Santani, 2021, Molecular Diagnosis & Therapy.

Points to consider in the reevaluation and reanalysis of genomic test results: a statement of the American College of Medical Genetics and Genomics (ACMG)

Joshua L. Deignan, H. Kearney, K. Monaghan, 2019, Genetics in Medicine.

Points to consider in the reevaluation and reanalysis of genomic test results: a statement of the American College of Medical Genetics and Genomics (ACMG)

Joshua L. Deignan, W. Chung, H. Kearney, 2019, Genetics in Medicine.

CFTR variant testing: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

Joshua L. Deignan, W. Grody, G. Cutting, 2020, Genetics in Medicine.

An exon 1 deletion in OTC identified using chromosomal microarray analysis in a mother and her two affected deceased newborns: implications for the prenatal diagnosis of ornithine transcarbamylase deficiency.

Joshua L. Deignan, W. Grody, F. Quintero-Rivera, 2010, Molecular genetics and metabolism.

Points to consider in the practice of postmortem genetic testing: A statement of the American College of Medical Genetics and Genomics (ACMG).

Joshua L. Deignan, D. Macaya, H. Reddi, 2023, Genetics in medicine : official journal of the American College of Medical Genetics.

Identification of novel PIEZO1 variants using prenatal exome sequencing and correlation to ultrasound and autopsy findings of recurrent hydrops fetalis

Joshua L. Deignan, W. Grody, F. Quintero-Rivera, 2018, American journal of medical genetics. Part A.

Privacy and data management in the era of massively parallel next-generation sequencing

Joshua L. Deignan, W. Grody, F. S. Ong, 2011, Expert review of molecular diagnostics.

Confidential genetic testing and electronic health records: A survey of current practices among Huntington disease testing centers

Joshua L. Deignan, W. Grody, S. Cederbaum, 2019, Molecular genetics & genomic medicine.

Updated recommendations for CFTR carrier screening: A position statement of the American College of Medical Genetics and Genomics (ACMG).

Joshua L. Deignan, W. Grody, H. Kearney, 2023, Genetics in medicine : official journal of the American College of Medical Genetics.

Moving toward more consistency in variant classification and clinical action.

Joshua L. Deignan, K. David, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Misattributed parentage as an unanticipated finding during exome/genome sequencing: current clinical laboratory practices and an opportunity for standardization

Joshua L. Deignan, Lora J. H. Bean, H. Rehm, 2018, Genetics in Medicine.

Points to consider when assessing relationships (or suspecting misattributed relationships) during family-based clinical genomic testing: a statement of the American College of Medical Genetics and Genomics (ACMG)

Joshua L. Deignan, H. Greely, S. Topper, 2020, Genetics in Medicine.

Clinical utility of pharmacogenetic biomarkers in cardiovascular therapeutics: a challenge for clinical implementation.

Joshua L. Deignan, J. Rotter, W. Grody, 2012, Pharmacogenomics.

Lipoyltransferase 1 Gene Defect Resulting in Fatal Lactic Acidosis in Two Siblings

Joshua L. Deignan, J. Gregg, F. Poulain, 2016, Case reports in obstetrics and gynecology.

Clinical exome sequencing for genetic identification of rare Mendelian disorders.

Joshua L. Deignan, S. Nelson, W. Grody, 2014, JAMA.