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List of works by Joann N Bodurtha

1-50 of 56 results

GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype

scientific article published on May 2009

Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations

scientific article

Prolyl 3-hydroxylase 1 and CRTAP are mutually stabilizing in the endoplasmic reticulum collagen prolyl 3-hydroxylation complex

scientific article

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.

scientific article published on 22 September 2016

Increased risk of birth defects among children from multiple births

scientific article

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

scientific article published on 04 February 2013

The impact of family history of breast cancer and cancer death on women's mammography practices and beliefs

scientific article

Paternal relatives and family history of breast cancer

scientific article

Gail model risk assessment and risk perceptions

scientific article

Hereditary renal hypouricemia: a new role for allopurinol?

scientific article published on 19 November 2013

Mammography screening after risk-tailored messages: the women improving screening through education and risk assessment (WISER) randomized, controlled trial

scientific article

Genomics and Perinatal Care

scientific article published on January 5, 2012

Spiritual coping, family history, and perceived risk for breast cancer--can we make sense of it?

scientific article

Exploring hereditary cancer among dying cancer patients--a cross-sectional study of hereditary risk and perceived awareness of DNA testing and banking.

scientific article published on 3 August 2010

Youth with Special Health Care Needs: Transition to Adult Health Care Services

scientific article published on December 1, 2013

The KinFact Intervention – A Randomized Controlled Trial to Increase Family Communication About Cancer History

scientific article published on October 1, 2014

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

scientific article published on 28 September 2016

Underinsurance and key health outcomes for children with special health care needs

scientific article

Physicians' Current Practices and Opportunities for DNA Banking of Dying Patients With Cancer

scientific article published on May 1, 2011

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

scientific article published on 20 July 2013

Genetics assessment at the end of life: suggestions for implementation in clinic and future research

scientific article published on April 2008

Evidence for a major gene in familial anencephaly

scientific article

Genetic Risk, Perceived Risk, and Cancer Worry in Daughters of Breast Cancer Patients

scientific article published on December 4, 2010

Talking (or not) about family health history in families of Latino young adults

scientific article published on 7 November 2012

Mentorship Is Not Enough: Exploring Sponsorship and Its Role in Career Advancement in Academic Medicine

scientific article published on 01 January 2019

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

scientific article published on 6 May 2014

Factors Influencing Men's Interest in Gene Testing for Prostate Cancer Susceptibility

scientific article published on October 1, 2002

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

scientific article published on January 6, 2016

Defining underinsurance among children with special health care needs: a Virginia sample

scientific article

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

scientific article published on July 17, 2014

Interdisciplinary research career development: building interdisciplinary research careers in women's health program best practices

scientific article published on September 16, 2011

Tolerance for ambiguity could influence awareness of breast cancer genetic testing and inform health education

scientific article

Genetic Counselors’ Current Use of Personal Health Records‐Based Family Histories in Genetic Clinics and Considerations for Their Future Adoption

scientific article published on December 16, 2012

Recruiting diverse patients to a breast cancer risk communication trial--waiting rooms can improve access.

scientific article

Comparing Screening and Preventive Health Behaviors in Two Study Populations: Daughters of Mothers with Breast Cancer and Women Responding to the Behavioral Risk Factor Surveillance System Survey

scientific article published on June 14, 2011

Genetic Screening and DNA Banking at the End of Life #206

scientific article published on May 1, 2011

The link between providers and patients: how laboratories can ensure quality results with genetic testing

scientific article

Impact of Co-Occurring Birth Defects on the Timing of Newborn Hearing Screening and Diagnosis

scientific article published on September 22, 2011

Milestones for medical students completing a clinical genetics elective.

scientific article published in September 2016

The “Good Planning Panel”

scientific article published on July 1, 2013

Implementation and Evaluation of the Johns Hopkins University School of Medicine Leadership Program for Women Faculty

scientific article published on April 14, 2015

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

scientific article published on 7 July 2015

The Five pediatric cancers - update on genetic implications

scientific article

PhenX measures for phenotyping rare genetic conditions

scientific article

Evolution of an integrated public health surveillance system

scientific article published on January 1, 2011

Practical Considerations for Implementing Research Recruitment Etiquette

scientific article published on November 1, 2014

Overview: referrals for genetic evaluation from child psychiatrists

scientific article published on March 28, 2016

A genetic perspective on infant mortality

scientific article published on May 2010

Factors affecting quality of life in children and adolescents with hypermobile Ehlers-Danlos syndrome/hypermobility spectrum disorders

scientific article published on 31 January 2019

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

scientific article