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 125 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 207 conditions, according to our data. His top areas of expertise are Fabry Disease, Neurofibromatosis Type 1 (NF1), Neurofibromatosis, Micrognathia, and Orchiectomy.

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.

Howard Saal is a Medical Genetics specialist and a Pediatrics provider in Cincinnati, Ohio. Dr. Saal is highly rated in 200 conditions, according to our data. His top areas of expertise are Achondroplasia, Treacher Collins Syndrome, Acrofacial Dysostosis Rodriguez Type, and Acrofacial Dysostosis Catania Type.

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).

Katherine Nathanson is a Medical Genetics provider in Philadelphia, Pennsylvania. Dr. Nathanson is highly rated in 16 conditions, according to our data. His top areas of expertise are Pheochromocytoma, Cowden Syndrome, Peutz-Jeghers Syndrome, and Hypothalamic Hamartomas. Dr. Nathanson 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 15 conditions, according to our data. His top areas of expertise are Pompe Disease, Von Gierke Disease, X-Linked Creatine Deficiency, and Propionic Acidemia.

Ursa Glaberman is a Medical Genetics specialist and an Oncologist in Santa Fe, New Mexico. Dr. Glaberman is highly rated in 15 conditions, according to our data. Her top areas of expertise are Breast Cancer, Pancreatic Cancer, Familial Pancreatic Cancer, and Cholangiocarcinoma (Bile Duct Cancer).

Ian Krantz is a Medical Genetics provider in Great Neck, New York. Dr. Krantz is highly rated in 14 conditions, according to our data. His top areas of expertise are Cornelia De Lange Syndrome, Pallister-Killian Mosaic Syndrome, Mosaicism, and KBG Syndrome.

Cathy Stevens is a Medical Genetics specialist and a Pediatrics provider in Chattanooga, Tennessee. Dr. Stevens is highly rated in 161 conditions, according to our data. Her top areas of expertise are Chromosome 6q Deletion, Townes-Brocks Syndrome, Microcephaly, and Miller-Dieker Syndrome.

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, Sialidosis, and Fucosidosis. 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 158 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.

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.

Anne Slavotinek is a Medical Genetics specialist and a Pediatrics provider in Cincinnati, Ohio. Dr. Slavotinek is highly rated in 145 conditions, according to our data. Her top areas of expertise are Floating-Harbor Syndrome, Retinopathy Pigmentary Mental Retardation, Bardet-Biedl Syndrome, and Micrognathia. Dr. Slavotinek is currently accepting new patients.

Mahim Jain is a Medical Genetics specialist and a Pediatrics 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. Dr. Jain is currently accepting new patients.

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 15 conditions, according to our data. His top areas of expertise are Neurofibromatosis Type 1 (NF1), Neurofibromatosis, Malignant Peripheral Nerve Sheath Tumor, and Mucopolysaccharidosis Type 1 (MPS I, Hurler Syndrome). Dr. Viskochil is currently accepting new patients.

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.

Melissa Wasserstein is a Medical Genetics specialist and a Pediatrics provider in Bronx, New York. Dr. Wasserstein is highly rated in 7 conditions, according to our data. Her top areas of expertise are Acid Sphingomyelinase Deficiency (ASMD), Niemann-Pick Disease, Reticulohistiocytoma, and Splenomegaly.

Brittany Simpson is a Medical Genetics specialist and a Pediatrics provider in Memphis, Tennessee. Dr. Simpson is highly rated in 106 conditions, according to our data. Her top areas of expertise are Rubinstein-Taybi Syndrome, Neurofibromatosis Type 1 (NF1), CHARGE Syndrome, and Neurofibromatosis.

Eric Vilain is a Medical Genetics provider in Orange, California. Dr. Vilain is highly rated in 5 conditions, according to our data. His top areas of expertise are Pyle Disease, Intersex, Beckwith-Wiedemann Syndrome, Hypospadias, and Orchiectomy. Dr. Vilain is currently accepting new patients.

Staci Kallish is a Medical Genetics provider in Philadelphia, Pennsylvania. Dr. Kallish is highly rated in 104 conditions, according to our data. Her top areas of expertise are Neurofibromatosis Type 1 (NF1), Gaucher Disease Type 1, Fabry Disease, and Neurofibromatosis. Dr. Kallish 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 highly rated in 152 conditions, according to our data. Her top areas of expertise are Microcephaly, Chromosome 13q Deletion, Scalp-Ear-Nipple Syndrome, and Snyder-Robinson Syndrome.