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

Philip Goolsby is a primary care provider, practicing in Family Medicine in Green Bay, Wisconsin. Dr. Goolsby is rated as an Experienced provider by MediFind in the treatment of Microcephaly Deafness Syndrome. His top areas of expertise are Monoclonal Gammopathy of Undetermined Significance (MGUS), Schnitzler Syndrome, Movement Disorders, and Parkinson's Disease.

David Stolp is a primary care provider, practicing in Family Medicine in West Allis, Wisconsin. Dr. Stolp is rated as an Experienced provider by MediFind in the treatment of Microcephaly Deafness Syndrome. His top areas of expertise are Cerebral Palsy, Floating-Harbor Syndrome, Cardiomyopathy Hypogonadism Metabolic Anomalies, and Ruvalcaba Syndrome.

Ashley Chadha is a Pediatrics provider in Charlotte, North Carolina. Dr. Chadha is rated as an Experienced provider by MediFind in the treatment of Microcephaly Deafness Syndrome. His top areas of expertise are Cystic Fibrosis, Secondary Immunodeficiency (SID), Newborn Jaundice, and Microcephaly Deafness Syndrome. Dr. Chadha is currently accepting new patients.

Sunil Pauwaa is an Advanced Heart Failure and Transplant Cardiologist in Oak Lawn, Illinois. Dr. Pauwaa is rated as an Experienced provider by MediFind in the treatment of Microcephaly Deafness Syndrome. His top areas of expertise are Heart Failure, Pulmonary Veno-Occlusive Disease, Pulmonary Hypertension, Heart Transplant, and Lung Transplant.

. Dr. Gage is rated as an Experienced provider by MediFind in the treatment of Microcephaly Deafness Syndrome. Her top areas of expertise are Obesity in Children, Familial Chronic Mucocutaneous Candidiasis, Delayed Growth, and Autism Spectrum Disorder.

Jacob Hartz is a Pediatrics specialist and a Pediatric Cardiologist in Charlotte, North Carolina. Dr. Hartz is rated as an Experienced provider by MediFind in the treatment of Microcephaly Deafness Syndrome. His top areas of expertise are Homozygous Familial Hypercholesterolemia (HoFH), Ventricular Septal Defects, Tetralogy of Fallot, Heart Murmurs, and Pacemaker Implantation. Dr. Hartz is currently accepting new patients.

. Dr. Thomas is rated as an Experienced provider by MediFind in the treatment of Microcephaly Deafness Syndrome. His top areas of expertise are Seizures, Cervical Myelopathy, Memory Loss, and Generalized Tonic-Clonic Seizure.

. Dr. Farmer is rated as an Experienced provider by MediFind in the treatment of Microcephaly Deafness Syndrome. Her top areas of expertise are Otitis Media with Effusion, Obesity in Children, Croup, and Autism Spectrum Disorder.

Mark Rosenberg is a primary care provider, practicing in Family Medicine in Sterling Heights, Michigan. Dr. Rosenberg has been practicing medicine for over 39 years and is rated as a Distinguished provider by MediFind in the treatment of Microcephaly Deafness Syndrome. His top areas of expertise are Johanson-Blizzard Syndrome, Woodhouse-Sakati Syndrome, Oculodentodigital Dysplasia Dominant, and Caudal Appendage Deafness. Dr. Rosenberg is currently accepting new patients.

Joyce Feagin is a Hematologist Oncology specialist and a Hematologist in Shreveport, Louisiana. Dr. Feagin is rated as an Advanced provider by MediFind in the treatment of Microcephaly Deafness Syndrome. Her top areas of expertise are Inflammatory Breast Cancer, Colorectal Cancer, Familial Colorectal Cancer, and Paget Disease of the Breast. Dr. Feagin is currently accepting new patients.

Cheng Her is a primary care provider, practicing in Family Medicine in La Crosse, Wisconsin. Dr. Her is rated as an Experienced provider by MediFind in the treatment of Microcephaly Deafness Syndrome. His top areas of expertise are Cerebral Palsy, Abruzzo-Erickson Syndrome, Yunis-Varon Syndrome, and Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant.

Athos Bousvaros is a Pediatric Gastroenterologist and a Gastroenterologist in Providence, Rhode Island. Dr. Bousvaros is rated as an Experienced provider by MediFind in the treatment of Microcephaly Deafness Syndrome. His top areas of expertise are Crohn's Disease, Ulcerative Colitis, Viral Gastroenteritis, Colonoscopy, and Gastrectomy. Dr. Bousvaros is currently accepting new patients.

Erica Fernandes is a Medical Genetics specialist and a Pediatrics provider in New Hyde Park, New York. Dr. Fernandes is rated as an Advanced provider by MediFind in the treatment of Microcephaly Deafness Syndrome. Her top areas of expertise are Microcephaly, Chromosome 13q Deletion, Scalp-Ear-Nipple Syndrome, and Snyder-Robinson Syndrome.

Elif Selamet is a Pediatric Cardiologist in Palo Alto, California. Dr. Selamet is rated as an Advanced provider by MediFind in the treatment of Microcephaly Deafness Syndrome. Her top areas of expertise are Marfan Syndrome, Kawasaki Disease, Tetralogy of Fallot, Coarctation of the Aorta, and Heart Transplant.

Dr. Harry “Hal” Dietz is a professor of pediatrics, an associate professor of medicine and an assistant professor of neurological surgery at the Johns Hopkins University School of Medicine. He is the Victor A. McKusick Professor of Genetics and also serves as the director of the William S. Smilow Center for Marfan Syndrome Research. Recognized as the world’s leading authority on Marfan syndrome, Dr. Dietz conducted genomic mapping and research on therapeutic agents for deficiencies in the genetic protein fibrillin, which is linked to Marfan syndrome. His research contributions have made diagnosis of the condition patient-specific and accurate. He has received more than 50 national and international awards and honors, including the Antoine Marfan Award from the National Marfan Foundation and the Art of Listening Award from the American Heart Association. Dr. Dietz is an ad hoc reviewer for 19 different organizations, including the American Journal of Cardiology, the Archives of Pediatric and Adolescent Medicine, and the Journal of Clinical Investigation. Over more than two decades, Dr. Dietz has mentored 75 predoctoral and postdoctoral researchers. He has authored 282 original publications in peer-reviewed journals, 25 textbook chapters, and 239 abstracts, and has also delivered more than 440 lectures on Marfan syndrome and related genetic disorders. Dr. Dietz completed his B.S. at Duke University and received his M.D. from the SUNY Upstate School of Medicine. He completed a pediatric residency and a cardiology fellowship at Johns Hopkins University before joining the faculty in 1992. Dr. Dietz is rated as an Advanced provider by MediFind in the treatment of Microcephaly Deafness Syndrome. His top areas of expertise are Caudal Duplication, Neu Laxova Syndrome, Early Infantile Epileptic Encephalopathy, and Cardiomyopathy Hypogonadism Metabolic Anomalies.

Rifali Patel is a Neurologist in Des Moines, Iowa. Dr. Patel is rated as an Advanced provider by MediFind in the treatment of Microcephaly Deafness Syndrome. Her top areas of expertise are Seizures, Generalized Tonic-Clonic Seizure, Dravet Syndrome, and Memory Loss.

Julie Conley is a Pediatrics provider in Grand Rapids, Michigan. Dr. Conley has been practicing medicine for over 17 years and is rated as an Advanced provider by MediFind in the treatment of Microcephaly Deafness Syndrome. Her top areas of expertise are Legius Syndrome, RASopathies, Neurofibromatosis, and Marcus Gunn Phenomenon.

Bruce Gelb is a Pediatric Cardiologist in New York, New York. Dr. Gelb is rated as an Advanced provider by MediFind in the treatment of Microcephaly Deafness Syndrome. His top areas of expertise are RASopathies, Congenital Heart Disease (CHD), Cardiomyopathic Lentiginosis, Noonan Syndrome, and Heart Transplant.

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 Microcephaly Deafness Syndrome. Her top areas of expertise are Spondyloepimetaphyseal Dysplasia Strudwick Type, Greenberg Dysplasia, Blepharophimosis, and Early Infantile Epileptic Encephalopathy.