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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

Kandamurugu Manickam is a Medical Genetics specialist and a Pediatrics provider in Toledo, Ohio. Dr. Manickam is highly rated in 3 conditions, according to our data. His top areas of expertise are Chromosome 6q Deletion, Vici Syndrome, Neurofibromatosis Type 1 (NF1), and Miller-Dieker Syndrome. Dr. Manickam is currently accepting new patients.

Laurie Seaver is a Medical Genetics specialist and a Pediatrics provider in Grand Rapids, Michigan. Dr. Seaver is highly rated in 3 conditions, according to our data. Her top areas of expertise are Hypotonia, 1p36 Deletion Syndrome, Smith-Magenis Syndrome, and Potocki-Lupski Syndrome. Dr. Seaver is currently accepting new patients.

Elaine Zackai is a Medical Genetics specialist and a Pediatrics provider in Philadelphia, Pennsylvania. Dr. Zackai is highly rated in 101 conditions, according to our data. Her top areas of expertise are Micrognathia, DiGeorge Syndrome, Hardikar Syndrome, Myringotomy, and Gastrostomy.

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.

David Stevenson is a Medical Genetics specialist and a Pediatrics provider in Palo Alto, California. Dr. Stevenson is highly rated in 100 conditions, according to our data. His top areas of expertise are Neurofibromatosis Type 1 (NF1), Neurofibromatosis, RASopathies, Costello Syndrome, and Deep Brain Stimulation.

Suzanne Debrosse is a Medical Genetics specialist and a Pediatrics provider in Cleveland, Ohio. Dr. Debrosse is highly rated in 88 conditions, according to our data. Her top areas of expertise are Pyruvate Dehydrogenase Deficiency, Pyruvate Decarboxylase Deficiency, Dihydrolipoamide Dehydrogenase Deficiency, and Pyruvate Carboxylase Deficiency. Dr. Debrosse is currently accepting new patients.

Luis Umana is a Medical Genetics specialist and a Pediatrics provider in Dallas, Texas. Dr. Umana is highly rated in 177 conditions, according to our data. His top areas of expertise are Classic Galactosemia, Very Long-Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency, Biotinidase Deficiency, and Argininosuccinic Aciduria.

Lance Rodan is a Medical Genetics specialist and a Pediatric Neurologist in Boston, Massachusetts. Dr. Rodan is highly rated in 172 conditions, according to our data. His top areas of expertise are Hennekam Syndrome, Increased Head Circumference, Polymicrogyria, Retinopathy Pigmentary Mental Retardation, and Deep Brain Stimulation. Dr. Rodan is currently accepting new patients.

Michael Bober is a Medical Genetics provider in Wilmington, Delaware. 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. Dr. Bober is currently accepting new patients.