ArticleScientific reports2019
The Use of Whole Exome Sequencing in a Cohort of Transgender Individuals to Identify Rare Genetic Variants.
Article in Scientific reports, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 1 of them a synthesis that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
21 citing papers in PubMed, 1 synthesis or guideline pooled it, 66 citations in OpenAlex.
- Genetic and Environmental Contributions To Gender Diversity: A Systematic Review of the Twin Literature.Behavior genetics · 2025Pooled it
- "Will it be enough to be respected?": understanding personal, institutional, and societal harms and benefits of genomics research.Journal of community genetics · 2026Article
- Perceptions of and willingness to participate in genomics research among a U.S. sample.Frontiers in genetics · 2026Article
- Per- and Polyfluoroalkyl Substances (PFAS) Enhance Cholesterol Accumulation and Dysregulate Inflammatory Responses in Macrophages.Cardiovascular toxicology · 2025Article
- Whole exome sequencing analysis of susceptibility loci in transgender individuals.Sexual medicine · 2025Article
- Article
- Genetic Analyses on Transgender Individuals: Impact on Physician Attitudes and Surgical Decision-Making.Brain and behavior · 2025Article
- Multi-Stakeholder Opinion Statement on the Care of Individuals Born with Differences of Sex Development: Common Ground and Opportunities for Improvement.Hormone research in paediatrics · 2025Article
- Migraine Management in Medically Complex Patients: a Narrative Review.Current neurology and neuroscience reports · 2024Review
- Polygenic Scores Clarify the Relationship Between Mental Health and Gender Diversity.Biological psychiatry global open science · 2024Article
- The genetics and hormonal basis of human gender identity.Archives of endocrinology and metabolism · 2024Review
- Giftedness and atypical sexual differentiation: enhanced perceptual functioning through estrogen deficiency instead of androgen excess.Frontiers in endocrinology · 2024Review
- Gender-affirming hormone therapy, mental health, and surgical considerations for aging transgender and gender diverse adults.Therapeutic advances in endocrinology and metabolism · 2023Review
- "It's completely erasure": A Qualitative Exploration of Experiences of Transgender, Nonbinary, Gender Nonconforming, and Questioning Students in Biology Courses.CBE life sciences education · 2022Article
- Concordance for Gender Dysphoria in Genetic Female Monozygotic (Identical) Triplets.Archives of sexual behavior · 2022Article
- Transgender and gender-diverse (TGD) individuals' perspectives on research seeking genetic variants associated with TGD identities: a qualitative study.Journal of community genetics · 2022Article
- Challenges in the care of transgender and gender-diverse youth: an endocrinologist's view.Nature reviews. Endocrinology · 2021Review
- Genetics of agenesis/hypoplasia of the uterus and vagina: narrowing down the number of candidate genes for Mayer-Rokitansky-Küster-Hauser Syndrome.Human genetics · 2021Article
- Childhood transgenderity under the perspective of elementary school teachers.Revista latino-americana de enfermagem · 2021Article
- Sex, Genes, and Traumatic Brain Injury (TBI): A Call for a Gender Inclusive Approach to the Study of TBI in the Lab.Frontiers in neuroscience · 2021Article
Corrections and comments
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Authors and funding
8 authors at 3 institutions in 2 countries.
Funding
Abstract
Approximately 0.5-1.4% of natal males and 0.2-0.3% of natal females meet DSM-5 criteria for gender dysphoria, with many of these individuals self-describing as transgender men or women. Despite recent improvements both in social acceptance of transgender individuals as well as access to gender affirming therapy, progress in both areas has been hampered by poor understanding of the etiology of gender dysphoria. Prior studies have suggested a genetic contribution to gender dysphoria, but previously proposed candidate genes have not yet been verified in follow-up investigation. In this study, we expand on the topic of gender identity genomics by identifying rare variants in genes associated with sexually dimorphic brain development and exploring how they could contribute to gender dysphoria. To accomplish this, we performed whole exome sequencing on the genomic DNA of 13 transgender males and 17 transgender females. Whole exome sequencing revealed 120,582 genetic variants. After filtering, 441 variants in 421 genes remained for further consideration, including 21 nonsense, 28 frameshift, 13 splice-region, and 225 missense variants. Of these, 21 variants in 19 genes were found to have associations with previously described estrogen receptor activated pathways of sexually dimorphic brain development. These variants were confirmed by Sanger Sequencing. Our findings suggest a new avenue for investigation of genes involved in estrogen signaling pathways related to sexually dimorphic brain development and their relationship to gender dysphoria.
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