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Author Details

Joann Bodurtha
Johns Hopkins McKusick-Nathans Department of Genetic Medicine
1974
179
31
PMIDPaper TitleJournal TitlePublished Year
38032519Latina immigrants' breast and colon cancer causal attributions: genetics is key.J Community Genet2024
37607990Palliative care and genetics: personalized medicine for the patient and family.Eur J Hum Genet2024
36210598Vascular aneurysms in Ehlers-Danlos syndrome subtypes: A systematic review.Clin Genet2023
37350913Feasibility of the Genetic Information Assistant Chatbot to Provide Genetic Education and Study Genetic Test Adoption Among Pancreatic Cancer Patients at Johns Hopkins Hospital.AMIA Jt Summits Transl Sci Proc2023
36999554The 2019 medical genetics workforce: A focus on laboratory geneticists.Genet Med2023
34424407The natural history of OTOF-related auditory neuropathy spectrum disorders: a multicenter study.Hum Genet2022
35775118Case report of bilateral ovarian fibromas associated with de novo germline variants in PTCH1 and SMARCA4.Mol Genet Genomic Med2022
35678018Successful Treatment of Refractory Orthostatic Intolerance (OI) With Droxidopa.Clin Pediatr (Phila)2022
35795918Monochorionic twins with 15q26.3 duplication presenting with selective intrauterine growth restriction and discordant cardiac anomalies: A case report.Mol Genet Genomic Med2022
36128922Agreement between parent-proxy and child self-report in pediatric hypermobile Ehlers-Danlos syndrome.J Child Health Care2022
34966100Considerations in Methods and Timing for Delivery of Genetic Counseling Information to Pediatric Oncology Patients and Families.J Pediatr Hematol Oncol2022
30853189Where culture meets genetics: Exploring Latina immigrants' lay beliefs of disease inheritance.Soc Sci Med2021
33523931Linkage-specific deubiquitylation by OTUD5 defines an embryonic pathway intolerant to genomic variation.Sci Adv2021
34478655Response to Biesecker et al.Am J Hum Genet2021
33941882The 2019 US medical genetics workforce: a focus on clinical genetics.Genet Med2021
34185264Demographic and socioeconomic trends in DNA banking utilization in the USA.J Community Genet2021
33370000Improving Detection of Cancer Predisposition Syndromes in Pediatric Oncology.J Pediatr Hematol Oncol2021
32601927"It's a Little Different for Men"-Sponsorship and Gender in Academic Medicine: a Qualitative Study.J Gen Intern Med2021
31065838Lung cancer and family-centered concerns.Support Care Cancer2020
34457804Post Graduate Education: Is Genomics Included on Board Certification Exams?Med Sci Educ2020
31831883A structured genetics rotation for pediatric residents: an important educational opportunity.Genet Med2020
32703020An Integrative Review of Family Health History in Pediatrics.Clin Pediatr (Phila)2020
31551579Correction: Regional models of genetic services in the United States.Genet Med2020
31488898Regional models of genetic services in the United States.Genet Med2020
30847900Uncertainty, hope, and coping efficacy among mothers of children with Duchenne/Becker muscular dystrophy.Clin Genet2019
31792044Dysmorphology.Pediatr Rev2019
30095456Mentorship Is Not Enough: Exploring Sponsorship and Its Role in Career Advancement in Academic Medicine.Acad Med2019
29930391Bioinformatics for medical students: a 5-year experience using OMIM® in medical student education.Genet Med2019
30171451Family health history and genetic services-the East Baltimore community stakeholder interview project.J Community Genet2019
31268398Identifying Gender Disparities and Barriers to Measuring the Status of Female Faculty: The Experience of a Large School of Medicine.J Womens Health (Larchmt)2019
30703284Factors affecting quality of life in children and adolescents with hypermobile Ehlers-Danlos syndrome/hypermobility spectrum disorders.Am J Med Genet A2019
30825358Clinical models of telehealth in genetics: A regional telegenetics landscape.J Genet Couns2019
29204810High-Risk Palliative Care Patients' Knowledge and Attitudes about Hereditary Cancer Testing and DNA Banking.J Genet Couns2018
30178919Pain and sleep quality in children with non-vascular Ehlers-Danlos syndromes.Am J Med Genet A2018
29843526The Role of Palliative Medicine in Assessing Hereditary Cancer Risk.Am J Hosp Palliat Care2018
30388293Striving for Precision: Enhancing Genetic Competency in Primary Care Nurse Practitioner Students.J Nurs Educ2018
2970336050 Years Ago in The Journal of Pediatrics: The Genetic Basis for the Variability of the Hereditable Diseases.J Pediatr2018
29703359A Cost Analysis of Universal versus Targeted Cholesterol Screening in Pediatrics.J Pediatr2018
29707409Juvenile Idiopathic Arthritis Associated with Combined JP-HHT Syndrome: A Novel Phenotype Associated with a Novel Variant in <i>SMAD4</i>.J Pediatr Genet2018
29560503Lung cancer and family-centered patient concerns.Support Care Cancer2018
27657687Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene.Genet Med2017
28079902PhenX measures for phenotyping rare genetic conditions.Genet Med2017
28492535Response to Laissue et al.Genet Med2017
27978785Five Pediatric Cancers - Update on Genetic Implications.Curr Pediatr Rev2017
27584909Milestones for medical students completing a clinical genetics elective.Genet Med2017
27022409Overview: referrals for genetic evaluation from child psychiatrists.Child Adolesc Psychiatry Ment Health2016
26394714Genotype-phenotype correlation of congenital anomalies in multiple congenital anomalies hypotonia seizures syndrome (MCAHS1)/PIGN-related epilepsy.Am J Med Genet A2016
27681385De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart disease.Hum Genet2016
27240540Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome.Am J Med Genet A2016
27412134Incontinentia Pigmenti with Persistent Hypercalcemia: Case Report.Pediatr Dermatol2016
  • 1 - 50 of 179

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Collaborators

Ada Hamosh
Johns Hopkins University School of Medicine
Co-authored papers 6
Mary L Marazita
Center for Craniofacial and Dental Genetics, University of Pittsburgh
Co-authored papers 4
John K Hewitt
Co-authored papers 4
Deborah R Maiese
Co-authored papers 3
James R Lupski
Baylor College of Medicine
Co-authored papers 3
Kunal Sanghavi
Co-authored papers 3
Alex H Krist
Virginia Commonwealth University
Co-authored papers 3
Clair A Francomano
Indiana University School of Medicine
Co-authored papers 3
Joanne M Meyer
Co-authored papers 3
Shalini N Jhangiani
Baylor College of Medicine
Co-authored papers 2
Christine A Pratilas
Johns Hopkins University School of Medicine
Co-authored papers 2
Richard A Gibbs
Baylor College of Medicine
Co-authored papers 2
Maximilian Muenke
National Human Genome Research Institute, The National Institutes of Health
Co-authored papers 2
Cynthia J Tifft
National Human Genome Research Institute
Co-authored papers 2
Julie Hoover-Fong
Johns Hopkins University
Co-authored papers 2
Matthew R G Taylor
Cardiovascular Institute, University of Colorado
Co-authored papers 2
William B Dobyns
University of Minnesota
Co-authored papers 2
Leslie G Biesecker
National Human Genome Research Institute, National Institutes of Health
Co-authored papers 2
Elaine H Zackai
Children's Hospital of Philadelphia
Co-authored papers 2
Kenneth Rosenbaum
Rare Disease Institute, Children's National Hospital
Co-authored papers 2
Sally Ann Lynch
University College Dublin
Co-authored papers 2
Peter Hedera
University of Louisville
Co-authored papers 1
Sahar Mansour
St George's University Hospitals NHS Foundation Trust
Co-authored papers 1
Zeynep Coban Akdemir
Baylor College of Medicine
Co-authored papers 1
Jennifer E Posey
Baylor College of Medicine
Co-authored papers 1
John J Mulvihill
University of Oklahoma
Co-authored papers 1
John W Belmont
Baylor College of Medicine
Co-authored papers 1
Anna Newlin
NorthShore University HealthSystem
Co-authored papers 1
Jennifer J Johnston
Center for Precision Health Research, National Human Genome Research Institute
Co-authored papers 1
Angela E Lin
MassGeneral Hospital for Children
Co-authored papers 1
Release 1.2