Dr. Robin Yang is a pediatric craniofacial surgeon in the Johns Hopkins Department of Plastic and Reconstructive Surgery and the Director of Pediatric Plastic Surgery. He is also the Division Chief of Oral and Maxillofacial Surgery and Dentistry in the Department of Otolaryngology-Head and Neck Surgery. His areas of expertise include orthognathic surgery, pediatric oral and maxillofacial pathology, and congenital craniofacial deformities. Dr. Yang received an undergraduate degree in psychology from Emory University. He earned his doctorate in dental surgery from the Columbia University College of Dental Medicine and his medical degree from the University of Maryland School of Medicine. Dr. Yang completed residencies in oral and maxillofacial surgery at the University of Maryland Medical Center/R Adams Cowley Shock Trauma Center and in plastic and reconstructive surgery at The Johns Hopkins Hospital. He performed a pediatric craniofacial/plastic surgery fellowship at the Children’s Hospital of Philadelphia and joined the Johns Hopkins faculty in his current position in 2019. Dr. Yang has received many awards and honors, and he is board eligible with the American Board of Oral and Maxillofacial Surgery and the American Board of Plastic Surgery. Dr. Yang is rated as an Advanced provider by MediFind in the treatment of Crouzon Syndrome. His top areas of expertise are Craniosynostosis, Metopic Ridge, Plagiocephaly, Osteotomy, and Bone Graft.

Dr. Couser obtained his bachelor’s degree from the University of Virginia and his Medical Doctorate from the Virginia Commonwealth University School of Medicine (VCU SOM). Dr. Couser’s ophthalmology residency was completed at Howard University where he served as co-chief resident in the last year of his residency. He received fellowship training in pediatric ophthalmology and adult strabismus at Emory University. Dr. Couser received a master’s degree in biotechnology from the Johns Hopkins University and completed a residency in clinical genetics at the University of North Carolina at Chapel Hill. He is one of only a few individuals currently board-certified by both the American Board of Ophthalmology and the American Board of Medical Genetics and Genomics. CV https://www.hopkinsmedicine.org/-/media/wilmer/documents/cvs/couser-cv Research Summary My primary research focus involves the identification and management of genetic eye diseases including rare inherited disorders affecting the eyes. Research and scholarly activities have been an integral component of my career path. I have been the principal investigator on 10 clinical trial/IRB studies and a co-investigator on others, participated with several committees or advisory panels related to research activities. I have been credited with over 120 book chapter, journal article and abstract publications. In addition, I served as the primary author/sole editor for a textbook titled Ophthalmic Genetic Diseases: A Quick Reference Guide to the Eye and External Ocular Adnexa Abnormalities, 1st Edition, published by Elsevier in 2018, which is one of only a few textbooks published in this subject area. I also served as a grant review panelist for the National Eye Institute Career Development Awards. Selected Publications *Couser NL, Masood MM, Strande NT, Foreman AKM, Crooks K, Weck KE, Lu M, Wilhelmsen KC, Roche M, Evans JP, Berg JS, Powell CM. 2015. The phenotype of multiple congenital anomalies- hypotonia-seizures syndrome 1: Report and review. Am J Med Genet Part A 9999A:1–6 *Couser NL, Lambert SR. Botulinum toxin: A treatment of consecutive esotropia in children. Strabismus 2012; 20(4):158-161 Couser NL, Lenhart PD, Hutchinson AK. Augmented Hummelsheim procedure to treat complete abducens nerve palsy. J AAPOS 2012;16(4):331-5 *Natario L. Couser, Maheer M. Masood, Arthur S. Aylsworth, and Roger E. Stevenson. Ocular manifestations in the X-linked intellectual disability syndromes. Ophthalmic Genet. 2017, Jan 23:1-12 *Couser NL, Brooks BP, Drack AV, Shankar SP. The evolving role of genetics in ophthalmology. Ophthalmic Genet. 2021 Jan 12:1-4. doi: 10.1080/13816810.2020.1868011. Dr. Couser is rated as an Advanced provider by MediFind in the treatment of Crouzon Syndrome. His top areas of expertise are Epicanthal Folds, Strabismus, Brown Syndrome, and Hypotonia.

Dr. Ada Hamosh is the Dr. Frank V. Sutland Professor of Pediatric Genetics in the Departments of Genetic Medicine and Pediatrics. Since 2002, she has served as clinical director of the McKusick-Nathans Institute of Genetic Medicine, now Department of Genetic Medicine and scientific director of the Online Mendelian Inheritance in Man® (OMIM), a catalog of more than 16,800 human genes and genetic disorders created by Dr. Victor A. McKusick. Her research centers the molecular basis of Mendelian disorders, the integration of genetics into clinical practice and the diagnosis and management of inborn errors of metabolism. Dr. Hamosh earned a bachelor’s degree in biology from Wesleyan University, a medical degree from Georgetown University School of Medicine and a master’s of public health from Johns Hopkins University School of Public Health. She later completed a fellowship in medical and biochemical genetics from the Johns Hopkins School of Medicine, before joining the Johns Hopkins faculty in 1992. Dr. Hamosh began her genetics career focusing on cystic fibrosis, serving as coordinator of the International Cystic Fibrosis Genotype-Phenotype Consortium. She served as chair of the Maryland State Advisory Council for Hereditary & Congenital Disorders from 2001-2009, during which time she also served on the executive committee of the Genetic Counseling Training Program, run by Johns Hopkins University and the National Human Genome Research Institute. Dr. Hamosh has authored more than 128 publications on a variety of topics. In addition, she is a member of 16 professional associations and advisory committees including the American Society of Human Genetics, the Steering Committee of the Global Alliance for Genomics and Health, and the executive board of the Human Genome Organization, of which she will be President from 2023-2025. Dr. Hamosh was recognized in Baltimore magazine as one of the region’s top doctors in 2013, and 2016-2020. Dr. Hamosh is rated as an Advanced provider by MediFind in the treatment of Crouzon Syndrome. Her top areas of expertise are Methylmalonic Acidemia, Maple Syrup Urine Disease, Ornithine Transcarbamylase Deficiency, Phenylketonuria (PKU), and Deep Brain Stimulation.

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 an Advanced provider by MediFind in the treatment of Crouzon Syndrome. Her top areas of expertise are Spondyloepimetaphyseal Dysplasia Strudwick Type, Greenberg Dysplasia, Blepharophimosis, and Early Infantile Epileptic Encephalopathy.

Bart Loeys is a Radiologist in Baltimore, Maryland. Dr. Loeys is rated as an Advanced provider by MediFind in the treatment of Crouzon Syndrome. His top areas of expertise are Acromicric Dysplasia, Spontaneous Coronary Artery Dissection (SCAD), Ectodermal Dysplasias, and Clouston Syndrome.

Antonie Kline is a Medical Genetics specialist and a Pediatrics provider in Baltimore, Maryland. Dr. Kline is rated as an Advanced provider by MediFind in the treatment of Crouzon Syndrome. Her top areas of expertise are Cornelia De Lange Syndrome, Micrognathia, Ehlers-Danlos Syndrome (EDS), and Crouzon Syndrome. Dr. Kline is currently accepting new patients.

Dr. Fisher is an associate professor of plastic surgery in the Johns Hopkins Department of Plastic Surgery. His areas of clinical expertise include burn surgery, burn reconstruction, craniofacial surgery, and reconstructive microsurgery. He serves as the Director of the Johns Hopkins Bayview Adult Burn Center. Committed to acute and reconstructive burn care of the highest quality, Dr. Fisher completed extensive training at multiple leading centers. These included a Burn Fellowship at the Shriners Hospital for Burns in Galveston, a Plastic Surgery Residency at Duke University, a Craniofacial Fellowship at the Hospital for Sick Children in Toronto, and a research fellowship at Harvard. Throughout his career Dr. Fisher has brought the full breadth and depth of his training to care for patients with the most complex injuries and deformities. From 2014 to 2022 he was on the faculty of the University of Iowa where he served in the burn unit, led the craniofacial team, and served the hand trauma team. Recognizing that complex injuries need coordinated care, he developed the Complex Face Group at Iowa to coordinate multiple specialty collaboration. Burns cause disfigurement, disability, and death particularly among the poor in the US and across the globe. Dr. Fisher’s research interests include improving prevention wherever burns happen, improving acute and reconstructive outcomes, and strengthening healthcare systems in the US and abroad in the face of burn and other disasters. His research interests also include wound healing and scar for burns and trauma. He has been a national and international leader in burn care. He founded and chaired the American Burn Association Committee on Reconstruction. He also founded and continues to lead the ABA series of burn reconstruction courses. He is frequently invited to speak internationally and serves actively in burn-related humanitarian agencies. Throughout his career, Dr. Fisher has emphasized the importance of a holistic approach seeking the restoration of not only physical health, but emotional recovery, social connection, and work reintegration of his patients. Dr. Fisher is rated as an Experienced provider by MediFind in the treatment of Crouzon Syndrome. His top areas of expertise are Melanoma, Neurofibromatosis, Neurofibromatosis Type 1 (NF1), Osteotomy, and Bone Graft.

Mari Groves is a Johns Hopkins pediatric neurosurgeon who cares for children with brain and spinal cord tumors (benign and cancerous), skeletal dysplasia, and spinal deformities such as neuromuscular and early scoliosis. She also sees patients diagnosed with Chiari malformations, spasticity and epilepsy. She specializes in treating patients with all types of spina bifida, including myelomeningocele. As part of the Johns Hopkins Center for Fetal Therapy, she is an expert in prenatal closure techniques such as minimally invasive fetoscopic repair of myelomeningocele (when the spina bifida defect is repaired before birth). Offering a transitional practice model of care, she follows patients diagnosed with spina bifida from birth to adulthood. Dr. Groves chose to pursue neurosurgery because it allows her to treat patients with complex conditions and help improve the quality of children’s lives. Her research interests focus on pediatric spinal disease and how surgical intervention can impact growth and neurological function during a child’s life. She is committed to building programs that support patients with congenital disorders as they age. Pediatric patients often age out of existing programs and have difficulty locating physicians and treating teams that understand their conditions. At Johns Hopkins, we have a unique ability to provide this type of comprehensive care. Dr. Groves earned her medical degree from the Vanderbilt University School of Medicine in 2007. She completed residency training in 2014 at The Johns Hopkins Hospital, where she remained for a neurosurgery fellowship, which she finished in 2015. She also completed a spinal deformity fellowship at Shriners Hospitals for Children in Philadelphia. Dr. Groves is rated as an Experienced provider by MediFind in the treatment of Crouzon Syndrome. Her top areas of expertise are Spinal Tumor, Myelomeningocele, Tethered Cord Syndrome, Osteotomy, and Laminectomy.

Hind Alsharhan is a Medical Genetics provider in Baltimore, Maryland. Dr. Alsharhan is rated as an Experienced provider by MediFind in the treatment of Crouzon Syndrome. Her top areas of expertise are ALG3-CDG, Ornithine Transcarbamylase Deficiency, Coenzyme Q Cytochrome C Reductase Deficiency, and Phenylketonuria (PKU).

Jordan Gornitsky is a Plastic Surgeon in Baltimore, Maryland. Dr. Gornitsky is rated as an Experienced provider by MediFind in the treatment of Crouzon Syndrome. His top areas of expertise are Goldenhar Disease, Microtia, Treacher Collins Syndrome, Osteotomy, and Bone Graft. Dr. Gornitsky is currently accepting new patients.

William Gahl is a Medical Genetics specialist and a Pediatrics provider in Bethesda, Maryland. Dr. Gahl is rated as an Experienced provider by MediFind in the treatment of Crouzon Syndrome. His top areas of expertise are Oculocutaneous Albinism Type 2, Hermansky-Pudlak Syndrome, Oculocutaneous Albinism Type 1, Oculocutaneous Albinism, and Deep Brain Stimulation.

Maximilian Muenke is a Medical Genetics provider in Bethesda, Maryland. Dr. Muenke is rated as an Experienced provider by MediFind in the treatment of Crouzon Syndrome. His top areas of expertise are Holoprosencephaly, Turner Syndrome, Craniosynostosis, and Corpus Callosum Agenesis.