Specialists for Rare genetic disease
28 physicians and care centers identified from ClinicalTrials.gov trial PIs, PubMed publications, and the NPPES NPI registry.
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Specialists are identified from ClinicalTrials.gov principal investigators, PubMed publications, and the NPI registry, then ranked through an automated scoring pipeline.
Report missing data- William A Gahl, M.D.Rare Disease SpecialistNational Human Genome Research Institute (NHGRI)Bethesda, MarylandPI×12
- Leslie G Biesecker, M.D., MDRare Disease / Clinical ResearchNational Human Genome Research Institute (NHGRI)BETHESDA, MDPI×8
- Laryssa A Huryn, M.D., RPhRare Disease / Clinical ResearchNational Eye Institute (NEI)NEW YORK, NYPI×5
- An N Dang Do, M.D.Rare Disease SpecialistEunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)Bethesda, MarylandPI×4
- Brendan Lee, MD, PhDRare Disease / Clinical ResearchBaylor College of MedicinePI×4
- Carlos R Ferreira Lopez, M.D.Rare Disease SpecialistEunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)Bethesda, MarylandPI×2
- Tammuella Chrisentery-Singleton, MDRare Disease SpecialistATHN, Ochsner Clinic FoundationPhoenix, ArizonaPI×2
- Brigitte ESCOUBET, MDRare Disease / Clinical ResearchAssistance Publique Hopitaux de ParisPI×1
- Anna Jansen, MD, PhDRare Disease SpecialistUniversity Hospital, AntwerpSilver Spring, MarylandPI×2
- Gian Marco DumaRare Disease / Clinical ResearchIRCCS E. MedeaPI×1
- Michael Recht, MD, PhD, MBA, MDRare Disease / Clinical ResearchYale University School of Medicine & National Bleeding Disorders FoundationCLEVELAND, OHPI×1
- Jessica R Wilson, MD, MSRare Disease SpecialistChildrens Hospital of PhiladelphiaPhiladelphia, Pennsylvania
- Diane J. Nugent, MD, RPTRare Disease / Clinical ResearchChildren's Hospital of Orange Co.MONMOUTH, MEPI×1
- Bernard Maitre, MD, PhDRare Disease / Clinical ResearchAssistance Publique - Hôpitaux de ParisPI×1
- Mark T Dransfield, MD, OTR/LRare Disease / Clinical ResearchUniversity of Alabama at BirminghamNORTH SALT LAKE, UTPI×1
- Tobias Haack, Dr.Rare Disease / Clinical ResearchUniversity Hospital TübingenPI×2
- Olaf Rieß, Prof. Dr.Rare Disease / Clinical ResearchUniversity Hospital TübingenPI×2
- Michael N Sack, M.D., D.CRare Disease / Clinical ResearchNational Heart, Lung, and Blood Institute (NHLBI)SPEARFISH, SDPI×3
- Olaf Riess, Prof. Dr.Rare Disease / Clinical ResearchUniversity Hospital TübingenPI×1
- Tuğçe Tahmaz, PhDRare Disease SpecialistBahcesehir UniversityIstanbul
- Olivia Kim-McManusUCSD Rady Children's HospitalQC-verified PI×1
- Danielle BaribeauHolland Bloorview Kids Rehabilitation HospitalQC-verified PI×1
- Estelle COLINescolin@chu-angers.frQC-verified PI×1
- Margot A CousinMayo ClinicQC-verified PI×1
- Giovanni ScambiaFondazione Policlinico Universitario A. Gemelli, IRCCSQC-verified PI×2
- Monica Wojcik, M.A., CCC-SLPBoston Children's HospitalPLANTATION, FLQC-verified PI×1
- Deborah SalikHôpital Universitaire Des Enfants Rein FabiolaQC-verified PI×1
- Bryn Webb, MDUniversity of Wisconsin, MadisonMADISON, WIQC-verified PI×1