Joann N Bodurtha

Professor

1974 …2019
If you made any changes in Pure, your changes will be visible here soon.

Research Output 1974 2019

Filter
Article
2019

Clinical models of telehealth in genetics: A regional telegenetics landscape

Terry, A. B., Wylie, A., Raspa, M., Vogel, B., Sanghavi, K., Djurdjinovic, L., Caggana, M. & Bodurtha, J. N., Jan 1 2019, In : Journal of Genetic Counseling.

Research output: Contribution to journalArticle

Telemedicine
Genetic Services
Videoconferencing
Technology
Telephone
Ehlers-Danlos Syndrome
Quality of Life
Fatigue
Primary Dysautonomias
Pediatrics
Women's Rights
Medicine
Benchmarking
Information Storage and Retrieval
Social Responsibility

Lung cancer and family-centered concerns

Feliciano, J., Chang, A., Venkatraman, D., Brooks, S., Zagaja, C., Ettinger, D. S., Hann, C., Naidoo, J., Voong, K., Hales, R., Turner, M., Peterson, V. & Bodurtha, J. N., Jan 1 2019, In : Supportive Care in Cancer.

Research output: Contribution to journalArticle

Lung Neoplasms
Focus Groups
Caregivers
Neoplasms
Family Health
career advancement
sponsorship
medicine
respect
interview

Regional models of genetic services in the United States

the National Coordinating Center for the Regional Genetic Service Collaboratives Regional Support Service Model Workgroup and Advisory Committee, Jan 1 2019, (Accepted/In press) In : Genetics in Medicine.

Research output: Contribution to journalArticle

Open Access
Genetic Services
Delivery of Health Care
Professional Practice
Needs Assessment
Vulnerable Populations

Uncertainty, hope, and coping efficacy among mothers of children with Duchenne/Becker muscular dystrophy

Bell, M., Biesecker, B. B., Bodurtha, J. N. & Peay, H. L., Jan 1 2019, In : Clinical Genetics.

Research output: Contribution to journalArticle

Hope
Duchenne Muscular Dystrophy
Uncertainty
Mothers
Spirituality

Where culture meets genetics: Exploring Latina immigrants’ lay beliefs of disease inheritance

Fiallos, K., Owczarzak, J., Bodurtha, J. N., Beatriz Margarit, S. & Erby, L. A. H., Jan 1 2019, In : Social Science and Medicine.

Research output: Contribution to journalArticle

Hispanic Americans
immigrant
Interviews
Disease
Uncertainty
2018

A Cost Analysis of Universal versus Targeted Cholesterol Screening in Pediatrics

Smith, A. J., Turner, E. L., Kinra, S., Bodurtha, J. N. & Chien, A. T., May 1 2018, In : Journal of Pediatrics. 196, p. 201-207.e2

Research output: Contribution to journalArticle

Hyperlipidemias
Cholesterol
Pediatrics
Costs and Cost Analysis
LDL Lipoproteins

Bioinformatics for medical students: a 5-year experience using OMIM® in medical student education

Lee-Barber, J., Kulo, V., Lehmann, H. P., Hamosh, A. & Bodurtha, J. N., Jun 21 2018, (Accepted/In press) In : Genetics in Medicine. p. 1-5 5 p.

Research output: Contribution to journalArticle

Genetic Databases
Clinical Competence
Medical Education
Computational Biology
Medical Students

Family health history and genetic services—the East Baltimore community stakeholder interview project

Sanghavi, K., Moses, I., Moses, D. W., Gordon, A., Chyr, L. & Bodurtha, J. N., Jan 1 2018, (Accepted/In press) In : Journal of Community Genetics.

Research output: Contribution to journalArticle

Medical History Taking
Baltimore
Interviews
Health Promotion
Genetic Services

Lung cancer and family-centered patient concerns

Feliciano, J., Becker, B., Shukla, M. & Bodurtha, J. N., Mar 21 2018, (Accepted/In press) In : Supportive Care in Cancer. p. 1-7 7 p.

Research output: Contribution to journalArticle

Lung Neoplasms
Focus Groups
Documentation
Neoplasms
Smoking Cessation

Pain and sleep quality in children with non-vascular Ehlers–Danlos syndromes

Muriello, M., Clemens, J. L., Mu, W., Tran, P. T., Rowe, P., Smith, C. H., Francomano, C. A., Bodurtha, J. N. & Kline, A. D., Jan 1 2018, (Accepted/In press) In : American Journal of Medical Genetics, Part A.

Research output: Contribution to journalArticle

Sleep
Pain
Connective Tissue
National Institute on Aging (U.S.)
Pediatrics

Striving for Precision: Enhancing Genetic Competency in Primary Care Nurse Practitioner Students

Sloand, E., Bourguet, A. N., Engle-Pratt, W. & Bodurtha, J., Nov 1 2018, In : The Journal of nursing education. 57, 11, p. 690-693 4 p.

Research output: Contribution to journalArticle

Nurse Practitioners
Primary Health Care
Medical History Taking
nurse
Genomics

The Role of Palliative Medicine in Assessing Hereditary Cancer Risk

Abusamaan, M. S., Quillin, J. M., Owodunni, O., Emidio, O., Kang, I. G., Yu, B., Ma, B., Bailey, L., Razzak, A. R., Smith, T. J. & Bodurtha, J. N., Jan 1 2018, (Accepted/In press) In : American Journal of Hospice and Palliative Medicine.

Research output: Contribution to journalArticle

Neoplasms
Electronic Health Records
Palliative Care
Genetic Services
Referral and Consultation
2017

High-Risk Palliative Care Patients’ Knowledge and Attitudes about Hereditary Cancer Testing and DNA Banking

Quillin, J. M., Emidio, O., Ma, B., Bailey, L., Smith, T. J., Kang, I. G., Yu, B. J., Owodunni, O. P., Abusamaan, M., Razzak, A. R. & Bodurtha, J. N., Dec 4 2017, (Accepted/In press) In : Journal of Genetic Counseling. p. 1-10 10 p.

Research output: Contribution to journalArticle

Palliative Care
Genetic Testing
DNA
Neoplasms
Genetic Services

Milestones for medical students completing a clinical genetics elective

Press, K. R. & Bodurtha, J. N., Feb 1 2017, In : Genetics in Medicine. 19, 2, p. 236-239 4 p.

Research output: Contribution to journalArticle

Medical Students
Students
Medical Genetics
Genomics
Learning

PhenX measures for phenotyping rare genetic conditions

Phillips, M., Grant, T., Giampietro, P., Bodurtha, J. N., Valdez, R., Maiese, D. R., Hendershot, T., Terry, S. F. & Hamilton, C. M., Jul 1 2017, In : Genetics in Medicine. 19, 7, p. 834-837 4 p.

Research output: Contribution to journalArticle

Growth Charts
Viverridae
Reproductive History
Translational Medical Research
Sweat

Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene

Bekheirnia, M. R., Bekheirnia, N., Bainbridge, M. N., Gu, S., Akdemir, Z. H. C., Gambin, T., Janzen, N. K., Jhangiani, S. N., Muzny, D. M., Michael, M., Brewer, E. D., Elenberg, E., Kale, A. S., Riley, A. A., Swartz, S. J., Scott, D. A., Yang, Y., Srivaths, P. R., Wenderfer, S. E., Bodurtha, J. N. & 16 others, Applegate, C. D., Velinov, M., Myers, A., Borovik, L., Craigen, W. J., Hanchard, N. A., Rosenfeld, J. A., Lewis, R. A., Gonzales, E. T., Gibbs, R. A., Belmont, J. W., Roth, D. R., Eng, C., Braun, M. C., Lupski, J. R. & Lamb, D. J., Apr 1 2017, In : Genetics in Medicine. 19, 4, p. 412-420 9 p.

Research output: Contribution to journalArticle

Exome
Nucleotides
Genes
Urinary Tract
Cakut
2016

De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart disease

Ma, L., Bayram, Y., McLaughlin, H. M., Cho, M. T., Krokosky, A., Turner, C. E., Lindstrom, K., Bupp, C. P., Mayberry, K., Mu, W., Bodurtha, J. N., Weinstein, V., Zadeh, N., Alcaraz, W., Powis, Z., Shao, Y., Scott, D. A., Lewis, A. M., White, J. J., Jhangiani, S. N. & 8 others, Gulec, E. Y., Lalani, S. R., Lupski, J. R., Retterer, K., Schnur, R. E., Wentzensen, I. M., Bale, S. & Chung, W. K., Dec 1 2016, In : Human Genetics. 135, 12, p. 1399-1409 11 p.

Research output: Contribution to journalArticle

Protein Phosphatase 1
Intellectual Disability
Heart Diseases
Megalencephaly
Exome

Family Ties: The Role of Family Context in Family Health History Communication about Cancer

Rodríguez, V. M., Corona, R., Bodurtha, J. N. & Quillin, J. M., Mar 3 2016, In : Journal of Health Communication. 21, 3, p. 346-355 10 p.

Research output: Contribution to journalArticle

Medical History Taking
Health Communication
cancer
Health
communication

Genotype-phenotype correlation of congenital anomalies in multiple congenital anomalies hypotonia seizures syndrome (MCAHS1)/PIGN-related epilepsy

Fleming, L., Lemmon, M., Beck, N., Johnson, M., Mu, W., Murdock, D., Bodurtha, J. N., Hoover Fong, J. E., Cohn, R., Bosemani, T., Baranano, K. & Hamosh, A., Jan 1 2016, In : American Journal of Medical Genetics, Part A. 170, 1, p. 77-86 10 p.

Research output: Contribution to journalArticle

Muscle Hypotonia
Genetic Association Studies
Epilepsy
Seizures
Finger Phalanges

Incontinentia Pigmenti with Persistent Hypercalcemia: Case Report

Adashek, J., Mu, W., Francis, J., Cohen, B. A., Pruette, C. S., Grossberg, A. L. & Bodurtha, J. N., Sep 1 2016, In : Pediatric Dermatology. 33, 5, p. e315-e317

Research output: Contribution to journalArticle

Incontinentia Pigmenti
Hypercalcemia
Nails
Hair
Tooth

Mentoring in palliative nursing

Mazanec, P., Aslakson, R. A., Bodurtha, J. N. & Smith, T. J., Nov 13 2016, In : Journal of Hospice and Palliative Nursing. 18, 6, p. 488-495 8 p.

Research output: Contribution to journalArticle

Hospice and Palliative Care Nursing
Mentors
Nurses
Nursing
Mentoring

Overview: Referrals for genetic evaluation from child psychiatrists

Press, K. R., Wieczorek, L., Hoover Fong, J. E., Bodurtha, J. N. & Taylor, L., Mar 28 2016, In : Child and Adolescent Psychiatry and Mental Health. 10, 1, 7.

Research output: Contribution to journalArticle

Psychiatry
Referral and Consultation
Child Psychiatry
Genetic Counseling
Hand

Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome

Di Donato, N., Kuechler, A., Velgano, S., Heinritz, W., Bodurtha, J. N., Merchant, S. R., Breningstall, G., Ladda, R., Sell, S., Altmüller, J., Bögershausen, N., Timms, A. E., Hackmann, K., Schrock, E., Collins, S., Olds, C., Rump, A. & Dobyns, W. B., 2016, (Accepted/In press) In : American Journal of Medical Genetics, Part A.

Research output: Contribution to journalArticle

Lissencephaly
Mutation
Exome
Malformations of Cortical Development
Cerebrofrontofacial Syndrome
2015

Horizontal integration of OMIM across the medical school preclinical curriculum for early reinforcement of clinical genetics principles

Diehl, A. C., Reader, L., Hamosh, A. & Bodurtha, J. N., Feb 5 2015, In : Genetics in Medicine. 17, 2, p. 158-163 6 p.

Research output: Contribution to journalArticle

Genetic Databases
Medical Schools
Curriculum
Students
Genetic Phenomena
Medicine
Negotiating
Salaries and Fringe Benefits
Education

Trends in Unmet Need for Genetic Counseling Among Children With Special Health Care Needs, 2001-2010

Smith, A. J., Oswald, D. & Bodurtha, J. N., Sep 1 2015, In : Academic Pediatrics. 15, 5, p. 544-550 7 p., 721.

Research output: Contribution to journalArticle

Genetic Counseling
Odds Ratio
Confidence Intervals
Delivery of Health Care
Family Health

What women think: Cancer causal attributions in a diverse sample of women

Rodríguez, V. M., Gyure, M. E., Corona, R., Bodurtha, J. N., Bowen, D. J. & Quillin, J. M., Jan 2 2015, In : Journal of Psychosocial Oncology. 33, 1, p. 48-65 18 p.

Research output: Contribution to journalArticle

Neoplasms
Survivors
Research
2014

AMEN in challenging conversations: Bridging the gaps between faith, hope, and medicine

Cooper, R. S., Ferguson, A., Bodurtha, J. N. & Smith, T. J., Jul 1 2014, In : Journal of Oncology Practice. 10, 4, p. e191-e195

Research output: Contribution to journalArticle

Hope
Medicine
Delivery of Health Care

Hereditary renal hypouricemia: A new role for allopurinol?

Bhasin, B., Stiburkova, B., De Castro-Pretelt, M., Beck, N., Bodurtha, J. N. & Atta, M., Jan 2014, In : American Journal of Medicine. 127, 1

Research output: Contribution to journalArticle

Allopurinol
Renal hypouricemia

Patient-reported hereditary breast and ovarian cancer in a primary care practice

Quillin, J. M., Krist, A. H., Gyure, M., Corona, R., Rodriguez, V., Borzelleca, J. & Bodurtha, J. N., 2014, In : Journal of Community Genetics. 5, 2, p. 179-183 5 p.

Research output: Contribution to journalArticle

Ovarian Neoplasms
Genetic Counseling
Primary Health Care
Referral and Consultation
Breast Neoplasms

Practical considerations for implementing research recruitment etiquette

Gyure, M. E., Quillin, J. M., Rodrícuez, V. M., Markowitz, M. S., Corona, R., Borzelleca, J., Bowen, D. J., Krist, A. H. & Bodurtha, J. N., Nov 1 2014, In : IRB Ethics and Human Research. 36, 6, p. 7-12 6 p.

Research output: Contribution to journalArticle

The KinFact intervention - a randomized controlled trial to increase family communication about cancer history

Bodurtha, J. N., McClish, D., Gyure, M., Corona, R., Krist, A. H., Rodríguez, V. M., Maibauer, A. M., Borzelleca, J., Bowen, D. J. & Quillin, J. M., Oct 1 2014, In : Journal of Women's Health. 23, 10, p. 806-816 11 p.

Research output: Contribution to journalArticle

Randomized Controlled Trials
Communication
Neoplasms
Odds Ratio
Colonic Neoplasms
2013

Deletion 12p12 involving SOX5 in two children with developmental delay and dysmorphic features

Lee, R. W. Y., Bodurtha, J. N., Cohen, J., Fatemi, A. & Batista, D., 2013, In : Pediatric Neurology. 48, 4, p. 317-320 4 p.

Research output: Contribution to journalArticle

Language Development Disorders
Chondrogenesis
Intellectual Disability
Nervous System
Transcription Factors

Genetic counselors' current use of personal health records-based family histories in genetic clinics and considerations for their future adoption

Widmer, C., Deshazo, J. P., Bodurtha, J. N., Quillin, J. & Creswick, H., Jun 2013, In : Journal of Genetic Counseling. 22, 3, p. 384-392 9 p.

Research output: Contribution to journalArticle

Personal Health Records
Electronic Health Records
United States Dept. of Health and Human Services
Technology
Counselors

Health information technology in screening and treatment of child obesity: A systematic review

Smith, A. J., Skow, Á., Bodurtha, J. N. & Kinra, S., Mar 2013, In : Pediatrics. 131, 3

Research output: Contribution to journalArticle

Medical Informatics
Pediatric Obesity
Communication Aids for Disabled
Text Messaging
Counseling

Integrating genetic and genomic information into effective cancer care in diverse populations

Fashoyin-Aje, L., Sanghavi, K., Bjornard, K. & Bodurtha, J. N., Oct 2013, In : Annals of Oncology. 24, SUPPLEMENT7, mdt264.

Research output: Contribution to journalArticle

Population
Neoplasms
Delivery of Health Care
Communication
DNA

Myoclonus-dystonia and Silver-Russell syndrome resulting from maternal uniparental disomy of chromosome 7

Sheridan, M., Bytyci Telegrafi, A., Stinnett, V., Umeh, C., Mari, Z., Dawson, T. M., Bodurtha, J. N. & Batista, D., Oct 2013, In : Clinical Genetics. 84, 4, p. 368-372 5 p.

Research output: Contribution to journalArticle

Silver-Russell Syndrome
Sarcoglycans
Chromosomes, Human, Pair 7
Movement Disorders
Mothers

Talking (or Not) About Family Health History in Families of Latino Young Adults

Corona, R., Rodríguez, V., Quillin, J., Gyure, M. & Bodurtha, J. N., Oct 2013, In : Health Education and Behavior. 40, 5, p. 571-580 10 p.

Research output: Contribution to journalArticle

Medical History Taking
Hispanic Americans
Young Adult
Odds Ratio
Confidence Intervals

The "good planning panel"

Smith, T. J. & Bodurtha, J. N., Jul 2013, In : The Hastings Center report. 43, 4, p. 30-32 3 p.

Research output: Contribution to journalArticle

Terminal Care
death
planning
Language
Advance Care Planning

Youth with special health care needs: Transition to adult health care services

Oswald, D. P., Gilles, D. L., Cannady, M. S., Wenzel, D. B., Willis, J. H. & Bodurtha, J. N., 2013, In : Maternal and Child Health Journal. 17, 10, p. 1744-1752 9 p.

Research output: Contribution to journalArticle

Transition to Adult Care
Patient Transfer
Health Services
Delivery of Health Care
Health Transition
2012

46 chromosomes and me

Bodurtha, J. N., Apr 2012, In : Journal of Genetic Counseling. 21, 2, p. 173-174 2 p.

Research output: Contribution to journalArticle

Ehlers-Danlos Syndrome in Orthopaedics: Etiology, Diagnosis, and Treatment Implications

Shirley, E. D., DeMaio, M. & Bodurtha, J. N., Sep 2012, In : Sports Health. 4, 5, p. 394-403 10 p.

Research output: Contribution to journalArticle

Ehlers-Danlos Syndrome
Orthopedics
Blood Vessels
Joint Instability
Collagen Type V

Genomics and perinatal care

Bodurtha, J. N. & Strauss, J. F., Jan 5 2012, In : New England Journal of Medicine. 366, 1, p. 64-73 10 p.

Research output: Contribution to journalArticle

Preconception Care
Perinatal Care
Preimplantation Diagnosis
Neonatal Screening
Inborn Genetic Diseases

Intraventricular twin fetuses in fetu: Case report

Huddle, L. N., Fuller, C., Powell, T., Hiemenga, J. A., Yan, J., Deuell, B., Lyders, E. M., Bodurtha, J. N., Papenhausen, P. R., Jackson-Cook, C. K., Pandya, A., Jaworski, M., Tye, G. W. & Ritter, A. M., Jan 2012, In : Journal of Neurosurgery: Pediatrics. 9, 1, p. 17-23 7 p.

Research output: Contribution to journalArticle

Fetus
Skeleton
Prenatal Ultrasonography
Karyotype
Single Nucleotide Polymorphism

The Coffin-Siris syndrome: A proposed diagnostic approach and assessment of 15 overlapping cases

Schrier, S. A., Bodurtha, J. N., Burton, B., Chudley, A. E., Chiong, M. A. D., D'avanzo, M. G., Lynch, S. A., Musio, A., Nyazov, D. M., Sanchez-Lara, P. A., Shalev, S. A. & Deardorff, M. A., Aug 2012, In : American Journal of Medical Genetics, Part A. 158 A, 8, p. 1865-1876 12 p.

Research output: Contribution to journalArticle

Exome
Nails
Fingers
Chromosomes
Coffin-Siris syndrome
2011
Behavioral Risk Factor Surveillance System
Health Behavior
Nuclear Family
Mothers
Breast Neoplasms