All Stories

  1. Clinical whole-exome sequencing results impact medical management

    Article • Molecular Genetics & Genomic Medicine, October 2018, Wiley

    Ms Kelly D Farwell Hagman

  2. Clinical germline diagnostic exome sequencing for hereditary cancer: Findings within novel candidate genes are prevalent

    Article • Cancer Genetics, August 2018, Elsevier

    Ms Kelly D Farwell Hagman

  3. Outcomes of Diagnostic Exome Sequencing in Patients With Diagnosed or Suspected Autism Spectrum Disorders

    Article • Pediatric Neurology, May 2017, Elsevier

    Ms Kelly D Farwell Hagman

  4. Keeping score of evidence to link genes to disease

    Article • Human Mutation, February 2017, Wiley

    Dr Erica D Smith, Dr Sourat Darabi, Ms Kelly D Farwell Hagman

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

    Article • Genetics in Medicine, November 2016, Nature

    Ms Kelly D Farwell Hagman

  6. Further evidence thatde novomissense and truncating variants inZBTB18cause intellectual disability with variable features

    Article • Clinical Genetics, October 2016, Wiley

    Ms Kelly D Farwell Hagman

  7. Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases

    Article • Genetics in Medicine, August 2016, Nature

    Ms Kelly D Farwell Hagman

  8. Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy

    Article • Genetics in Medicine, January 2016, Nature

    Ms Kelly D Farwell Hagman

  9. POGZ truncating alleles cause syndromic intellectual disability

    Article • Genome Medicine, January 2016, Springer Science + Business Media

    Ms Kelly D Farwell Hagman

  10. Diagnostic Exome Sequencing Identifies a Novel Gene, EMILIN1 , Associated with Autosomal‐Dominant Hereditary Connective Tissue Disease

    Article • Human Mutation, November 2015, Wiley

    Ms Kelly D Farwell Hagman, PhD Paola Spessotto

  11. Diagnostic exome sequencing for patients with a family history of consanguinity: over 38% of positive results are not autosomal recessive pattern

    Article • Journal of Human Genetics, October 2015, Nature

    Ms Kelly D Farwell Hagman

  12. Exome sequencing positively identified relevant alterations in more than half of cases with an indication of prenatal ultrasound anomalies

    Article • Prenatal Diagnosis, August 2015, Wiley

    Ms Kelly D Farwell Hagman

  13. New Insights into the Genetics of Fetal Megacystis: ACTG2 Mutations, Encoding γ-2 Smooth Muscle Actin in Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (Berdon Syndrome)

    Article • Fetal Diagnosis and Therapy, May 2015, Karger Publishers

    Ms Kelly D Farwell Hagman

  14. ELP2is a novel gene implicated in neurodevelopmental disabilities

    Article • American Journal of Medical Genetics Part A, April 2015, Wiley

    Ms Kelly D Farwell Hagman

  15. Enhanced utility of family-centered diagnostic exome sequencing with inheritance model–based analysis: results from 500 unselected families with undiagnosed genetic conditions

    Article • Genetics in Medicine, November 2014, Nature

    Ms Kelly D Farwell Hagman

  16. Congenital lethal motor neuron disease with a novel defect in ribosome biogenesis

    Article • Neurology, March 2014, Wolters Kluwer Health

    Ms Kelly D Farwell Hagman

  17. Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations

    Article • Human Genetics, March 2014, Springer Science + Business Media

    Ms Kelly D Farwell Hagman

  18. Diagnostic Exome Sequencing and Tailored Bioinformatics of the Parents of a Deceased Child with Cobalamin Deficiency Suggests Digenic Inheritance of the MTR and LMBRD1 Genes

    Article • January 2014, Springer Science + Business Media

    Ms Kelly D Farwell Hagman

  19. Diagnostic Exome Sequencing Identifies Two Novel IQSEC2 Mutations Associated with X-Linked Intellectual Disability with Seizures: Implications for Genetic Counseling and Clinical Diagnosis

    Article • Journal of Genetic Counseling, December 2013, Springer Science + Business Media

    Ms Kelly D Farwell Hagman

  20. Patient decisions for disclosure of secondary findings among the first 200 individuals undergoing clinical diagnostic exome sequencing

    Article • Genetics in Medicine, October 2013, Nature

    Ms Kelly D Farwell Hagman

  21. A human de novo mutation inMYH10phenocopies the loss of function mutation in mice

    Article • Rare Diseases, January 2013, Taylor & Francis

    Ms Kelly D Farwell Hagman

  22. Mutation inSNAP25as a novel genetic cause of epilepsy and intellectual disability

    Article • Rare Diseases, January 2013, Taylor & Francis

    Ms Kelly D Farwell Hagman

  23. Reply to J. Tinat et al

    Article • Journal of Clinical Oncology, September 2009, American Society of Clinical Oncology (ASCO)

    Ms Kelly D Farwell Hagman

  24. High frequency of de novo mutations in Li-Fraumeni syndrome

    Article • Journal of Medical Genetics, June 2009, BMJ

    Ms Kelly D Farwell Hagman

  25. Beyond Li Fraumeni Syndrome: Clinical Characteristics of Families With p53 Germline Mutations

    Article • Journal of Clinical Oncology, March 2009, American Society of Clinical Oncology (ASCO)

    Ms Kelly D Farwell Hagman

  26. The additive effect of neurotransmitter genes in pathological gambling

    Article • Clinical Genetics, July 2008, Wiley

    Ms Kelly D Farwell Hagman

  27. Somatic microindels in human cancer: the insertions are highly error-prone and derive from nearby but not adjacent sense and antisense templates

    Article • Human Molecular Genetics, June 2008, Oxford University Press (OUP)

    Ms Kelly D Farwell Hagman

  28. p53 Testing for Li‐Fraumeni and Li‐Fraumeni‐Like Syndromes

    Article • Current Protocols in Human Genetics, April 2008, Wiley

    Ms Kelly D Farwell Hagman

  29. Database of somatic mutations in EGFR with analyses revealing indel hotspots but no smoking-associated signature

    Article • Human Mutation, August 2007, Wiley

    Ms Kelly D Farwell Hagman

  30. Evidence for mutation showers

    Article • Proceedings of the National Academy of Sciences, May 2007, Proceedings of the National Academy of Sciences

    Ms Kelly D Farwell Hagman

  31. Somatic microindels: analysis in mouse soma and comparison with the human germline

    Article • Human Mutation, January 2007, Wiley

    Ms Kelly D Farwell Hagman

  32. If We Build It … Will They Come? – Establishing a Cancer Genetics Services Clinic for an Underserved Predominantly Latina Cohort

    Article • Journal of Genetic Counseling, November 2006, Wiley

    Ms Kelly D Farwell Hagman

  33. Most spontaneous tumors in a mouse model of Li-Fraumeni syndrome do not have a mutator phenotype

    Article • Carcinogenesis, April 2006, Oxford University Press (OUP)

    Ms Kelly D Farwell Hagman

  34. Preferential occurrence of 1-2 microindels

    Article • Human Mutation, January 2005, Wiley

    Ms Kelly D Farwell Hagman

  35. Tissue-specific time courses of spontaneous mutation frequency and deviations in mutation pattern are observed in middle to late adulthood in Big Blue mice

    Article • Environmental and Molecular Mutagenesis, January 2005, Wiley

    Ms Kelly D Farwell Hagman

  36. Spontaneous multiple mutations show both proximal spacing consistent with chronocoordinate events and alterations with p53-deficiency

    Article • Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis, October 2004, Elsevier

    Ms Kelly D Farwell Hagman

  37. Spontaneous tandem-base mutations (TBM) show dramatic tissue, age, pattern and spectrum specificity

    Article • Mutation Research/Genetic Toxicology and Environmental Mutagenesis, January 2003, Elsevier

    Ms Kelly D Farwell Hagman

  38. Multivariate analysis of associations of 42 genes in ADHD, ODD and conduct disorder

    Article • Clinical Genetics, December 2001, Wiley

    Ms Kelly D Farwell Hagman

  39. Mutation frequency is reduced in the cerebellum of Big Blue® mice overexpressing a human wild type SOD1 gene

    Article • Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis, February 2001, Elsevier

    Ms Kelly D Farwell Hagman