The 20 Best Miller-Dieker Syndrome Doctors in The United States

William Dobyns is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Minneapolis, Minnesota. He has been practicing medicine for over 48 years. Dr. Dobyns is rated as an Elite provider by MediFind in the treatment of Miller-Dieker Syndrome. He is also highly rated in 46 other conditions, according to our data. His clinical expertise encompasses Increased Head Circumference, Cerebellar Hypoplasia, Cortical Dysplasia, and Lissencephaly. Dr. Dobyns is currently accepting new patients.

Anthony Wynshaw-Boris is a Medical Genetics provider practicing medicine in Cleveland, Ohio. Dr. Wynshaw-Boris is rated as an Elite provider by MediFind in the treatment of Miller-Dieker Syndrome. He is also highly rated in 7 other conditions, according to our data. His clinical expertise encompasses Lissencephaly, Focal or Multifocal Malformations in Neuronal Migration, Miller-Dieker Syndrome, and Lissencephaly 1. Dr. Wynshaw-Boris is currently accepting new patients.

. Dr. Russi is rated as an Advanced provider by MediFind in the treatment of Miller-Dieker Syndrome. He is also highly rated in 125 other conditions, according to our data. His clinical expertise encompasses Increased Head Circumference, Ehlers-Danlos Syndrome (EDS), Chromosome 8p Deletion, and Chromosome 6q Duplication. Dr. Russi is board certified in American Board Of Pediatrics and American Board Of Medical Genetics.

. Dr. Perszyk is rated as an Advanced provider by MediFind in the treatment of Miller-Dieker Syndrome. He is also highly rated in 12 other conditions, according to our data. His clinical expertise encompasses Succinyl-CoA:3-Ketoacid CoA Transferase Deficiency, Maternal Hyperphenylalaninemia, Dihydropteridine Reductase Deficiency, and Mucolipidosis 3. Dr. Perszyk is board certified in American Board Of Medical Genetics And Genomics.

Mahim Jain is a Medical Genetics provider practicing medicine in Wilmington, Delaware. Dr. Jain is rated as a Distinguished provider by MediFind in the treatment of Miller-Dieker Syndrome. He is also highly rated in 138 other conditions, according to our data. His clinical expertise encompasses Osteogenesis Imperfecta, Miller-Dieker Syndrome, Lissencephaly 1, and Spondyloepimetaphyseal Dysplasia Strudwick Type. Dr. Jain is board certified in American Board Of Medical Genetics And Genomics.

Linda Rossetti is a Pediatrics specialist and a Medical Genetics provider practicing medicine in Grand Rapids, Michigan. She has been practicing medicine for over 10 years. Dr. Rossetti is rated as an Advanced provider by MediFind in the treatment of Miller-Dieker Syndrome. She is also highly rated in 87 other conditions, according to our data. Her clinical expertise encompasses Smith-Magenis Syndrome, Miller-Dieker Syndrome, Chromosome 6q Duplication, and Chromosome 8p Deletion. Dr. Rossetti is board certified in American Board Of Medical Genetics And Genomics and American Board Of Pediatrics.

Erica Fernandes is a Medical Genetics specialist and a Pediatrics provider practicing medicine in New Hyde Park, New York. Dr. Fernandes is rated as an Advanced provider by MediFind in the treatment of Miller-Dieker Syndrome. She is also highly rated in 153 other conditions, according to our data. Her clinical expertise encompasses Microcephaly, Chromosome 13q Deletion, Hennekam Syndrome, and Acrodermatitis Enteropathica.

. Dr. Narumanchi is rated as an Experienced provider by MediFind in the treatment of Miller-Dieker Syndrome. He is also highly rated in 21 other conditions, according to our data. His clinical expertise encompasses Urea Cycle Disorders (UCD), Phenylketonuria (PKU), Maternal Hyperphenylalaninemia, and Dihydropteridine Reductase Deficiency. Dr. Narumanchi is board certified in American Board Of Medical Genetics And Genomics.

Carlos Bacino is a Pediatrics specialist and a Medical Genetics provider practicing medicine in Houston, Texas. Dr. Bacino is rated as a Distinguished provider by MediFind in the treatment of Miller-Dieker Syndrome. He is also highly rated in 23 other conditions, according to our data. His clinical expertise encompasses Achondroplasia, Angelman Syndrome, Miller-Dieker Syndrome, and Lissencephaly 1. Dr. Bacino is currently accepting new patients.

Ghayda Mirzaa is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Seattle, Washington. Dr. Mirzaa is rated as a Distinguished provider by MediFind in the treatment of Miller-Dieker Syndrome. She is also highly rated in 19 other conditions, according to our data. Her clinical expertise encompasses Increased Head Circumference, Cortical Dysplasia, Achalasia Microcephaly Syndrome, and Microcephaly. Dr. Mirzaa is currently accepting new patients.

Heather Mefford is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Memphis, Tennessee. Dr. Mefford is rated as a Distinguished provider by MediFind in the treatment of Miller-Dieker Syndrome. She is also highly rated in 15 other conditions, according to our data. Her clinical expertise encompasses Mosaicism, Spasmus Nutans, Epilepsy in Children, and Hypotonia. Dr. Mefford is currently accepting new patients.

Diana Carrasco is a Medical Genetics provider practicing medicine in Fort Worth, Texas. Dr. Carrasco is rated as an Experienced provider by MediFind in the treatment of Miller-Dieker Syndrome. She is also highly rated in 5 other conditions, according to our data. Her clinical expertise encompasses Trisomy 12 Mosaicism, Trisomy 14 Mosaicism, Trisomy 2 Mosaicism, and Trisomy 3 Mosaicism.

Susan Klugman, MD, FACOG, FACMG, is Director, Reproductive and Medical Genetics, Program Director, Medical Genetics and Genomics Residency and Professor, Obstetrics & Gynecology and Women’s Health and Pediatrics at Montefiore Einstein. Her clinical focus is on the evaluation of patients and families at risk for genetic disorders including those patients at risk for hereditary cancer syndromes. She also provides evaluations during pregnancy or preconception, including prenatal diagnosis and consultation for patients undergoing assisted reproductive technologies. Dr. Klugman is rated as an Experienced provider by MediFind in the treatment of Miller-Dieker Syndrome. She is also highly rated in 5 other conditions, according to our data. Her clinical expertise encompasses Mosaicism, Chromosome 13q Duplication, Trisomy 13, and Holoprosencephaly.

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 Experienced provider by MediFind in the treatment of Miller-Dieker Syndrome. She is also highly rated in 24 other conditions, according to our data. Her clinical expertise encompasses Spondyloepimetaphyseal Dysplasia Strudwick Type, Greenberg Dysplasia, Blepharophimosis, and Early Infantile Epileptic Encephalopathy. Dr. De Macena Sobreira is board certified in American Board Of Medical Genetics And Genomics.

In my clinical practice, I see adult patients with diagnosed or suspected genetic disease. This includes both chromosomal abnormalities, as well as single gene disorders. I see patients with a variety of disorders, including Tuberous Sclerosis, Neurofibromatosis, connective tissue disease including Ehlers-Danlos syndrome and Marfan syndrome, and familial cancer syndromes. I have a particular clinical interest in patients with cardiopulmonary disease. As a physician-scientist, I have a research focus on postural orthostatic hypotension (POTS) and pulmonary artery hypertension (PAH). Dr. Posey is rated as an Experienced provider by MediFind in the treatment of Miller-Dieker Syndrome. She is also highly rated in 20 other conditions, according to our data. Her clinical expertise encompasses Hypotonia, Achalasia Microcephaly Syndrome, Microcephaly, and Cortical Dysplasia. Dr. Posey is currently accepting new patients.

Nina Powell is a Medical Genetics provider practicing medicine in Wilmington, Delaware. She has been practicing medicine for over 30 years. Dr. Powell is rated as an Experienced provider by MediFind in the treatment of Miller-Dieker Syndrome. She is also highly rated in 45 other conditions, according to our data. Her clinical expertise encompasses Microcephaly, PIK3CA-Related Overgrowth Spectrum, Chromosome 13q Deletion, and Increased Head Circumference. Dr. Powell is board certified in American Board Of Medical Genetics And Genomics.

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 rated as an Experienced provider by MediFind in the treatment of Miller-Dieker Syndrome. She is also highly rated in 12 other conditions, according to our data. Her clinical expertise encompasses Methylmalonic Acidemia, Propionic Acidemia, Infantile Neutropenia, and Progressive External Ophthalmoplegia. Dr. Vernon is board certified in American Board Of Medical Genetics And Genomics and American Board Of Pediatrics.

Theresa Grebe is a Pediatrics provider practicing medicine in Phoenix, Arizona. Dr. Grebe is rated as an Experienced provider by MediFind in the treatment of Miller-Dieker Syndrome. She is also highly rated in 96 other conditions, according to our data. Her clinical expertise encompasses Chromosome 6 Uniparental Disomy, Temple Syndrome, Congenital Bowing of Long Bones, and DiGeorge Syndrome. Dr. Grebe is board certified in Medical Genetics And Genomics Clin Genetics & Genomic. Dr. Grebe is currently accepting new patients.

Marvin Natowicz is a Medical Genetics provider practicing medicine in Cleveland, Ohio. He has been practicing medicine for over 50 years. Dr. Natowicz is rated as an Experienced provider by MediFind in the treatment of Miller-Dieker Syndrome. He is also highly rated in 1 other condition, according to our data. His clinical expertise encompasses Autism Spectrum Disorder, Fragile X Syndrome, Andersen Disease, and Noonan Syndrome. Dr. Natowicz is board certified in American Board Of Medical Genetics And Genomics, 1990.

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 Experienced provider by MediFind in the treatment of Miller-Dieker Syndrome. She is also highly rated in 28 other conditions, according to our data. Her clinical expertise encompasses Methylmalonic Acidemia, Maple Syrup Urine Disease, Ornithine Transcarbamylase Deficiency, Phenylketonuria (PKU), and Deep Brain Stimulation. Dr. Hamosh is board certified in American Board Of Medical Genetics And Genomics.