Brad Angle is a Medical Genetics provider in Park Ridge, Illinois. Dr. Angle is highly rated in 2 conditions, according to our data. His top areas of expertise are KBG Syndrome, Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant, Cortical Dysplasia, and Micrognathia.

Karen Gripp is a Medical Genetics provider in Wilmington, Delaware. Dr. Gripp is highly rated in 123 conditions, according to our data. Her top areas of expertise are Costello Syndrome, RASopathies, Noonan Syndrome, and Cardiofaciocutaneous Syndrome.

Robert Hopkin is a Medical Genetics specialist and a Pediatrics provider in Cincinnati, Ohio. Dr. Hopkin is highly rated in 208 conditions, according to our data. His top areas of expertise are Fabry Disease, Neurofibromatosis Type 1 (NF1), Neurofibromatosis, Micrognathia, and Orchiectomy.

Howard Saal is a Medical Genetics specialist and a Pediatrics provider in Cincinnati, Ohio. Dr. Saal is highly rated in 201 conditions, according to our data. His top areas of expertise are Achondroplasia, Acrofacial Dysostosis Rodriguez Type, Treacher Collins Syndrome, and Acrofacial Dysostosis Catania Type.

Raymond Wang is a Medical Genetics provider in Orange, California. Dr. Wang is highly rated in 50 conditions, according to our data. His top areas of expertise are Mucopolysaccharidoses (MPS), Mucopolysaccharidosis Type 7 (MPS VII, Sly Syndrome), Mucopolysaccharidosis Type 1 (MPS I, Hurler Syndrome), Pompe Disease, and Adenoidectomy.

Mahim Jain is a Medical Genetics provider in Wilmington, Delaware. Dr. Jain is highly rated in 138 conditions, according to our data. His top areas of expertise are Osteogenesis Imperfecta, Spondyloepimetaphyseal Dysplasia Strudwick Type, Miller-Dieker Syndrome, and Lissencephaly 1.

William Wilcox is a Medical Genetics provider in Atlanta, Georgia. Dr. Wilcox has been practicing medicine for over 38 years is highly rated in 25 conditions, according to our data. His top areas of expertise are Fabry Disease, Achondroplasia, Mucopolysaccharidoses (MPS), and Mucopolysaccharidosis Type 6 (MPS VI, Maroteaux-Lamy Syndrome).

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 highly rated in 24 conditions, according to our data. Her top areas of expertise are Spondyloepimetaphyseal Dysplasia Strudwick Type, Greenberg Dysplasia, Blepharophimosis, and Early Infantile Epileptic Encephalopathy.

Carlos Prada is a Medical Genetics specialist and a Pediatrics provider in Chicago, Illinois. Dr. Prada is highly rated in 170 conditions, according to our data. His top areas of expertise are RASopathies, Smith-Kingsmore Syndrome, Neurofibromatosis, and Neurofibromatosis Type 1 (NF1).

Cathy Stevens is a Medical Genetics specialist and a Pediatrics provider in Chattanooga, Tennessee. Dr. Stevens is highly rated in 162 conditions, according to our data. Her top areas of expertise are Chromosome 6q Deletion, Townes-Brocks Syndrome, Microcephaly, and Smith-Magenis Syndrome.

Dr. Hilary Vernon is a Professor of Genetic Medicine and pediatrics at the Johns Hopkins University School of Medicine. She is also an attending physician at Kennedy Krieger Institute. Hilary Vernon has expertise in treating inborn errors of metabolism and mitochondrial disorders. She is the director of the Mitochondrial Care Center at The Johns Hopkins Hospital and the Barth Syndrome Interdisciplinary Clinic at the Kennedy Krieger Institute. Her research interests include understanding intermediary metabolism in Barth syndrome and in disorders of branch chain amino acid metabolism. Dr. Vernon also co-directs the Department of Genetic Medicine Clinical Trials Unit, and is the principal investigator on multiple clinical trials for rare diseases. Dr. Vernon received her medical degree and doctorate from Rutgers University, New Brunswick, New Jersey. She completed residencies in genetics and pediatrics at The Johns Hopkins University, and a fellowship in clinical laboratory biochemical genetics at The Johns Hopkins University. Dr. Vernon was recognized with the 2010 Francis F. Schwentker Award for Excellence in Research at Johns Hopkins University and the 2011 James B. Sidbury Jr. Fellowship in Biochemical Genetics at Johns Hopkins University. Dr. Vernon is highly rated in 12 conditions, according to our data. Her top areas of expertise are Methylmalonic Acidemia, Propionic Acidemia, Infantile Neutropenia, Progressive External Ophthalmoplegia, and Gastrostomy.

Sara Cathey is a Medical Genetics provider in Charleston, South Carolina. Dr. Cathey is highly rated in 10 conditions, according to our data. Her top areas of expertise are Aspartylglucosaminuria, Mucolipidosis Type 4, Fucosidosis, and Mucolipidosis 3. Dr. Cathey is currently accepting new patients.

Stephanie Sacharow is a Medical Genetics specialist and a Pediatrics provider in Boston, Massachusetts. Dr. Sacharow is highly rated in 159 conditions, according to our data. Her top areas of expertise are Phenylketonuria (PKU), Maternal Hyperphenylalaninemia, Cat Eye Syndrome, and Dihydropteridine Reductase Deficiency. Dr. Sacharow is currently accepting new patients.

My practice includes caring for children and adults with inherited conditions, such as inherited disorders of metabolism, genetic syndromes, mitochondrial disorders, inherited causes of growth failure or developmental delay, and conditions detected by newborn screening. My clinic works with the Pediatric Biochemical Genetics Laboratory to diagnose these conditions. We provide treatment for inherited disorders of metabolism. I work closely with the geneticists, neurologists, pediatricians, internists, and other providers at Duke University Medical Center to provide comprehensive care for my patients. My research has been aimed at developing new treatments for inherited conditions, focusing on glycogen storage diseases, like Pompe disease and von Gierke disease. We have developed gene therapy for these conditions and are in the process of starting clinical trials to test safety and benefits. Dr. Koeberl is highly rated in 7 conditions, according to our data. His top areas of expertise are Pompe Disease, Von Gierke Disease, X-Linked Creatine Deficiency, and Kearns-Sayre Syndrome.

Richard Chang is a Medical Genetics provider in Orange, California. Dr. Chang is highly rated in 157 conditions, according to our data. His top areas of expertise are Phenylketonuria (PKU), Maternal Hyperphenylalaninemia, Adrenoleukodystrophy (ALD), and Citrullinemia. Dr. Chang is currently accepting new patients.

Dr. Visvanathan is a Professor on faculty at Johns Hopkins. She is a practicing medical oncologist and cancer epidemiologist focused on translating discoveries to the clinic and population as a whole. She directs the Clinical Cancer Genetics and Prevention service at Johns Hopkins Sidney Kimmel Comprehensive Cancer Center (SKCCC) and is an active member of the Breast and Ovarian Program and Cancer Prevention and Control Program. Dr. Visvanathan is also Director of the Cancer Epidemiology Track in the Department of Epidemiology at Johns Hopkins Bloomberg School of Public Health. With her research centered on primary and secondary prevention of breast and ovarian cancer, her goal is to reduce the incidence of and mortality from breast cancer globally by conducting impactful studies at the local, national, and international levels. Specifically, she focuses on the identification of atrisk groups, potential biomarkers of risk and prognosis and evaluation of preventive agents across the continuum. She conducts both observational studies and early phase clinical trials. She also teaches and mentors the next generation of clinicians and cancer researchers. Dr. Visvanathan has also served on national committees focused on Breast Cancer Risk Reduction, Breast Cancer Genetics and Cancer Disparities. She has also co-chaired National Guidelines on Breast Cancer Endocrine Prevention. Locally, serving on the Maryland State Cancer Council. Dr. Visvanathan received her medical degree from the University of Sydney in Australia. She subsequently went on to complete training in internal medicine and medical oncology, including a period as chief resident at Royal Prince Alfred Hospital. She then did further training in Medical Oncology at Johns Hopkins and also obtained a master’s degree in clinical/cancer epidemiology at Johns Hopkins Bloomberg School of Public Health. This was followed by a postdoctoral fellow before coming on to faculty in both the Johns Hopkins School of Medicine and Bloomberg School of Public Health. Dr. Visvanathan is highly rated in 6 conditions, according to our data. Her top areas of expertise are Breast Cancer, Ovarian Cancer, Menopause, Hormone Replacement Therapy (HRT), and Salpingo-Oophorectomy.

Steven Skinner is a Medical Genetics provider in Greenwood, South Carolina. Dr. Skinner is highly rated in 5 conditions, according to our data. His top areas of expertise are Rett Syndrome, Increased Head Circumference, Angelman Syndrome, and Hypotonia. Dr. Skinner is currently accepting new patients.

Dr. Michael B. Bober is a pediatric geneticist and an authority on skeletal dysplasias, brittle bone disease, primordial dwarfism and other genetic disorders of the skeleton. He is a frequent guest lecturer, accomplished author and consultant for numerous television networks, here and abroad. Dr. Bober is highly rated in 70 conditions, according to our data. His top areas of expertise are Microcephalic Osteodysplastic Primordial Dwarfism Type 2 (MOPD2), Microcephalic Osteodysplastic Primordial Dwarfism Type 1 (MOPD1), Achondroplasia, Osteotomy, and Adenoidectomy.

Kathryn Weaver is a Medical Genetics specialist and a Pediatrics provider in Cincinnati, Ohio. Dr. Weaver has been practicing medicine for over 17 years is highly rated in 117 conditions, according to our data. Her top areas of expertise are Acrofacial Dysostosis Catania Type, RASopathies, Costello Syndrome, and Noonan Syndrome.

David Viskochil is a Medical Genetics provider in Salt Lake City, Utah. Dr. Viskochil has been practicing medicine for over 41 years is highly rated in 14 conditions, according to our data. His top areas of expertise are Neurofibromatosis Type 1 (NF1), Neurofibromatosis, Malignant Peripheral Nerve Sheath Tumor, and Prader-Willi Syndrome. Dr. Viskochil is currently accepting new patients.

Scott Hickey is a Medical Genetics specialist and a Pediatrics provider in Toledo, Ohio. Dr. Hickey is highly rated in 13 conditions, according to our data. His top areas of expertise are Cerebellar Hypoplasia, Micrognathia, Trisomy 3 Mosaicism, and Mosaicism. Dr. Hickey is currently accepting new patients.

Kosuke Izumi is a Medical Genetics specialist and a Pediatrics provider in Dallas, Texas. Dr. Izumi is highly rated in 11 conditions, according to our data. His top areas of expertise are Pallister-Killian Mosaic Syndrome, Micrognathia, Hypotonia, and Mosaicism.

Amy Calhoun is a Medical Genetics specialist and a Pediatrics provider in Iowa City, Iowa. Dr. Calhoun is highly rated in 8 conditions, according to our data. Her top areas of expertise are Wolf-Hirschhorn Syndrome, Otospondylomegaepiphyseal Dysplasia, MELAS Syndrome, and Costello Syndrome. Dr. Calhoun is currently accepting new patients.

. Dr. Arnold is highly rated in 8 conditions, according to our data. Her top areas of expertise are Phenylketonuria (PKU), Mitochondrial Trifunctional Protein Deficiency, Krabbe Disease, and Inborn Amino Acid Metabolism Disorder.

Kristen Truxal is a Medical Genetics specialist and a Pediatrics provider in Lima, Ohio. Dr. Truxal is highly rated in 4 conditions, according to our data. Her top areas of expertise are Mucopolysaccharidosis Type 3 (MPS III, Sanfilippo Syndrome), Mucopolysaccharidosis Type 3A (MPS IIIA, Sanfilippo Syndrome A), Mucopolysaccharidoses (MPS), and Mucopolysaccharidosis Type 3B (MPS IIIB, Sanfilippo Syndrome B). Dr. Truxal is currently accepting new patients.