Dr. Nara Lygia De Macena Sobreira is an assistant professor at the McKusick-Nathans Department of Genetic Medicine at Johns Hopkins University School of Medicine. Her area of expertise is rare Mendelian phenotypes, analysis of next-generation sequencing, and functional testing of candidate causative variants. She earned her M.D. at the University of Pernambuco in Brazil. She finished her Ph.D. in Human Genetics at Johns Hopkins followed by a one-year postdoc also at Johns Hopkins School of Medicine. During her Ph.D., she worked with Dr. David Valle using next-generation sequencing to elucidate the molecular basis of rare Mendelian phenotypes and in 2010 she discovered PTPN11 as the gene responsible for metachondromatosis by using whole-genome sequencing. She completed residencies in clinical genetics at both Universidade Federal de Sao Paulo and Johns Hopkins. Her main clinical and research focus is on identifying the genetic bases of rare phenotypes, mainly, phenotypes associated with cartilage tumors and vascular anomalies (including Ollier disease and Maffucci syndrome), and on understanding the physiopathology of these phenotypes to identify pharmacological strategies to treat them. She has worked extensively on developing strategies to better analyze the variants identified by next-generation sequencing and on novel strategies for data sharing. She participated on the development of PhenoDB, a phenotypic and genomic database, and created PhenoDB Variant Analysis Tool used worldwide. She is also one of the creators of GeneMatcher, VariantMatcher, and one of the co-founders of the Matchmaker Exchange, all intended to share next-generation sequencing data. She has also worked extensively on functional studies that evaluate the possible pathogenic effects of the candidate causative variants. Recent News Articles and Media Coverage Living the Hopkins Mission Honorees, Johns Hopkins Medicine Successes in Characterizing Genes through GeneMatcher with Nara L. M. Sobreira, MD, PhD, Ambry Genetics (April 30, 2018) Enfermedades raras: el desafio es encontrar otros pacientes que tienen el mismo mal, Lun (26 de septiembre de 2019) 2021 Science Writers' Boot Camp, Johns Hopkins Medicine (June 7, 2021) Making the Perfect Match, Johns Hopkins Medicine (February 1, 2020). Dr. De Macena Sobreira is rated as a Distinguished provider by MediFind in the treatment of Greenberg Dysplasia. Her top areas of expertise are Spondyloepimetaphyseal Dysplasia Strudwick Type, Greenberg Dysplasia, Blepharophimosis, and Early Infantile Epileptic Encephalopathy.

. Dr. Russi is rated as an Experienced provider by MediFind in the treatment of Greenberg Dysplasia. His top areas of expertise are Increased Head Circumference, Ehlers-Danlos Syndrome (EDS), Chromosome 8p Deletion, and Chromosome 6q Duplication.

. Dr. Mai is rated as an Experienced provider by MediFind in the treatment of Greenberg Dysplasia. His top areas of expertise are Pleurisy, Pleural Effusion, Lung Nodules, ALK-Positive Non-Small Cell Lung Cancer, and Bone Marrow Aspiration.

Felicity Fishman is a Hand Surgeon in Maywood, Illinois. Dr. Fishman is rated as an Advanced provider by MediFind in the treatment of Greenberg Dysplasia. Her top areas of expertise are Syndactyly Type 2, Polydactyly, Syndactyly Type 1, and Syndactyly. Dr. Fishman is currently accepting new patients.

Mark Miller is a Pediatric Orthopedics specialist and an Orthopedics provider in Saint Louis, Missouri. Dr. Miller is rated as an Advanced provider by MediFind in the treatment of Greenberg Dysplasia. His top areas of expertise are Claw Foot, Clubfoot, Congenital Femoral Deficiency, Osteotomy, and Tissue Biopsy. Dr. Miller is currently accepting new patients.

Mihir Thacker is an Orthopedics provider in Wilmington, Delaware. Dr. Thacker is rated as an Advanced provider by MediFind in the treatment of Greenberg Dysplasia. His top areas of expertise are Osteochondroma, Knock Knees, Hereditary Multiple Osteochondromas, Osteotomy, and Spinal Fusion.

Franklin Gettys is a Pediatric Orthopedics provider in Greenville, South Carolina. Dr. Gettys is rated as an Advanced provider by MediFind in the treatment of Greenberg Dysplasia. His top areas of expertise are Caudal Regression Syndrome, Spondylocarpotarsal Synostosis Syndrome, Scoliosis, Clubfoot, and Tenotomy. Dr. Gettys is currently accepting new patients.

Jeffrey Campbell is a General Surgeon and a Pediatrics provider in Broomall, Pennsylvania. Dr. Campbell is rated as an Advanced provider by MediFind in the treatment of Greenberg Dysplasia. His top areas of expertise are Achondroplasia, Increased Head Circumference, Spondyloepiphyseal Dysplasia, Bone Graft, and Adenoidectomy. Dr. Campbell is currently accepting new patients.

Peter Stasikelis is a Pediatric Orthopedics provider in Greenville, South Carolina. Dr. Stasikelis is rated as an Advanced provider by MediFind in the treatment of Greenberg Dysplasia. His top areas of expertise are Scoliosis, Caudal Regression Syndrome, Spondylocarpotarsal Synostosis Syndrome, Hypochondroplasia, and Osteotomy. Dr. Stasikelis is currently accepting new patients.

Patrick Mckee is a Podiatric Medicine provider in Independence, Ohio. Dr. Mckee has been practicing medicine for over 37 years and is rated as an Advanced provider by MediFind in the treatment of Greenberg Dysplasia. His top areas of expertise are Metatarsalgia, Plantar Fasciitis, Fibromatosis, and Ledderhose Disease.

Michal Szczodry is an Orthopedics provider in Orland Park, Illinois. Dr. Szczodry is rated as an Advanced provider by MediFind in the treatment of Greenberg Dysplasia. His top areas of expertise are Scoliosis, Sciatica, Distal 18q Deletion Syndrome, Microdiscectomy, and Herniated Disc Surgery.

Gregory Matthews is a Radiologist in Greenville, South Carolina. Dr. Matthews is rated as an Advanced provider by MediFind in the treatment of Greenberg Dysplasia. His top areas of expertise are Scoliosis, Caudal Regression Syndrome, Spondylocarpotarsal Synostosis Syndrome, and Knock Knees.

David Westberry is a Pediatric Orthopedics provider in Greenville, South Carolina. Dr. Westberry is rated as an Advanced provider by MediFind in the treatment of Greenberg Dysplasia. His top areas of expertise are Arthrogryposis Multiplex Congenita, Clubfoot, Spastic Diplegia Infantile Type, Osteotomy, and Leg or Foot Amputation. Dr. Westberry is currently accepting new patients.

John Frino is an Orthopedics provider in Winston Salem, North Carolina. Dr. Frino is rated as an Experienced provider by MediFind in the treatment of Greenberg Dysplasia. His top areas of expertise are Scoliosis, Knock Knees, Clubfoot, Spondylocarpotarsal Synostosis Syndrome, and Hip Replacement. Dr. Frino is currently accepting new patients.

Aaron Scott is an Orthopedics provider in Winston Salem, North Carolina. Dr. Scott is rated as an Experienced provider by MediFind in the treatment of Greenberg Dysplasia. His top areas of expertise are Achilles Tendon Rupture, Flat Feet, Osteoarthritis, Tendinitis, and Hip Replacement. Dr. Scott is currently accepting new patients.

James Carroccio is a primary care provider, practicing in Family Medicine in Conneaut, Ohio. Dr. Carroccio is rated as an Experienced provider by MediFind in the treatment of Greenberg Dysplasia. His top areas of expertise are Hypertension, Glucocorticoid-Remediable Aldosteronism, Familial Hypertension, and High Cholesterol. Dr. Carroccio is currently accepting new patients.

Angelo Dacus is a Hand Surgeon and an Orthopedics provider in Charlottesville, Virginia. Dr. Dacus is rated as an Experienced provider by MediFind in the treatment of Greenberg Dysplasia. His top areas of expertise are Rhizarthrosis, Carpal Tunnel Syndrome, Radial Nerve Dysfunction, Dupuytren Contracture, and Tenotomy. Dr. Dacus is currently accepting new patients.

Colin Mooney is a Hematologist Oncology specialist and a Hematologist in Milwaukee, Wisconsin. Dr. Mooney is rated as an Experienced provider by MediFind in the treatment of Greenberg Dysplasia. His top areas of expertise are Angiosarcoma, Pleuropulmonary Blastoma, Lung Cancer, and Inflammatory Breast Cancer. Dr. Mooney is currently accepting new patients.

Lisa Kratz is a Medical Genetics provider in Baltimore, Maryland. Dr. Kratz is rated as a Distinguished provider by MediFind in the treatment of Greenberg Dysplasia. Her top areas of expertise are Greenberg Dysplasia, Smith-Lemli-Opitz Syndrome, Rhizomelic Syndrome, and Chondrodysplasia Punctata Syndrome.

Christen Fragala is a primary care provider, practicing in Family Medicine in Lowell, Massachusetts. Dr. Fragala is rated as a Distinguished provider by MediFind in the treatment of Greenberg Dysplasia. Her top areas of expertise are Opsismodysplasia, Craniometaphyseal Dysplasia, Osteopathia Striata Cranial Sclerosis, and Multiple Synostoses Syndrome 1. Dr. Fragala is currently accepting new patients.