Indiana University School of Medicine Medical Genetics and Genomics/Pediatrics

Topics

• Connective tissue disorders research 91
• Mitochondrial Function and Pathology 46
• Metabolism and Genetic Disorders 32
• Genomic variations and chromosomal abnormalities 27
• Genetic Syndromes and Imprinting 15
• Genomics and Rare Diseases 15
• Congenital heart defects research 14
• Genetic and Kidney Cyst Diseases 11
• Neurogenetic and Muscular Disorders Research 10
• Genetics and Neurodevelopmental Disorders 9
• Prenatal Screening and Diagnostics 9
• Cell Adhesion Molecules Research 8

Most cited

1. Clinician-associated traumatization from difficult medical encounters: Results from a qualitative interview study on the Ehlers-Danlos Syndromes.

   SSM. Qualitative research in health · 2023 · 43 citations · Clair Francomano

2. Effects of oral sepiapterin on blood Phe concentration in a broad range of patients with phenylketonuria (APHENITY): results of an international, phase 3, randomised, double-blind, placebo-controlled trial.

   Lancet (London, England) · 2024 · 41 citations · Melissa Lah

3. Craniocervical instability in patients with Ehlers-Danlos syndromes: outcomes analysis following occipito-cervical fusion.

   Neurosurgical review · 2024 · 20 citations · Clair Francomano

4. Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.

   Brain : a journal of neurology · 2025 · 27 citations · Erin Conboy

5. Comorbidity, misdiagnoses, and the diagnostic odyssey in patients with hypermobile Ehlers-Danlos syndrome.

   Genetics in medicine open · 2023 · 35 citations · Clair Francomano

6. Mast cell activation syndrome: Current understanding and research needs.

   The Journal of allergy and clinical immunology · 2024 · 31 citations · Clair Francomano

7. A dyadic approach to the delineation of diagnostic entities in clinical genomics.

   American journal of human genetics · 2021 · 100 citations · David Weaver

8. Patients with Ehlers-Danlos syndrome on the diagnostic odyssey: Rethinking complexity and difficulty as a hero's journey.

   American journal of medical genetics. Part C, Seminars in medical genetics · 2021 · 46 citations · Clair Francomano