Olaf Bodamer is a Medical Genetics provider in Boston, Massachusetts. Dr. Bodamer is rated as an Elite provider by MediFind in the treatment of Kabuki Syndrome. His top areas of expertise are Kabuki Syndrome, Classic Galactosemia, Niemann-Pick Disease, and Microcephaly. Dr. Bodamer is currently accepting new patients.

Hans Bjornsson is a Medical Genetics specialist and a Pediatrics provider in Baltimore, Maryland. Dr. Bjornsson is rated as an Elite provider by MediFind in the treatment of Kabuki Syndrome. His top areas of expertise are Kabuki Syndrome, Weaver Syndrome, 3MC Syndrome, Coffin-Lowry Syndrome, and Orchiectomy. Dr. Bjornsson is currently accepting new patients.

Dr. Jill A. Fahrner is an assistant professor in the Departments of Genetic Medicine and Pediatrics at the Johns Hopkins University School of Medicine. Her area of clinical expertise is medical genetics. Dr. Fahrner earned her Ph.D. from Johns Hopkins University and her M.D. from the University of North Carolina. She completed pediatrics residency training at Duke University Medical Center. She joined the McKusick-Nathans Institute of Genetic Medicine as a genetic medicine resident in 2009 and completed her training in 2012. She stayed on as chief resident from 2012-2013 and then joined the faculty as an assistant professor in the Department of Pediatrics within the McKusick-Nathans Institute of Genetic Medicine in 2013. Her current primary appointment is Assistant Professor in the Department of Genetic Medicine, where she is Director of the multidisciplinary Epigenetics and Chromatin Clinic. She is a physician-scientist with a long-standing interest in epigenetic mechanisms of disease. Her clinical focus is on caring for individuals with epigenetic and chromatin disorders, specifically Mendelian disorders of the epigenetic machinery, or chromatin modifying disorders. She has seen hundreds of individuals with congenital disorders involving disrupted epigenetics, most of which exhibit neurodevelopmental disabilities and abnormal growth. Her laboratory research is focused on understanding disease mechanisms and developing therapies for select Mendelian disorders of the epigenetic machinery. She is a member of the American Society of Human Genetics (ASHG), having won an ASHG Reviewer’s Choice Abstract Award for her work on growth retardation in Kabuki syndrome 1. She has received a Johns Hopkins School of Medicine Clinician Scientist Award, a Johns Hopkins School of Medicine Musculoskeletal Pilot and Feasibility Award, a William and Ella Owens Medical Research Foundation Award, the Margaret Ellen Nielsen Fellowship Award, and the Alice and YT Chen Travel Award while at Johns Hopkins. She is the recipient of a prestigious Hartwell Foundation Individual Biomedical Research Award and also has ongoing research funding from the National Institutes of Health. Dr. Fahrner is rated as a Distinguished provider by MediFind in the treatment of Kabuki Syndrome. Her top areas of expertise are Weaver Syndrome, Sotos Syndrome, Kabuki Syndrome, and Marshall-Smith Syndrome.

Ashley Gaines is a primary care provider, practicing in Internal Medicine in Harrisburg, North Carolina. Dr. Gaines is rated as an Advanced provider by MediFind in the treatment of Kabuki Syndrome. His top areas of expertise are Macroamylasemia, Childhood Iron Deficiency Anemia, Chronic Cough, and Anemia. Dr. Gaines is currently accepting new patients.

Autumn Whitlock-Morales is a primary care provider, practicing in Pediatrics and Internal Medicine in Tyler, Texas. Dr. Whitlock-Morales is rated as an Experienced provider by MediFind in the treatment of Kabuki Syndrome. Her top areas of expertise are Vitamin D Deficiency, Polycystic Ovary Syndrome, Hypertension, and Glucocorticoid-Remediable Aldosteronism. Dr. Whitlock-Morales is currently accepting new patients.

Mari Mori is a Medical Genetics specialist and a Pediatrics provider in Maitland, Florida. Dr. Mori is rated as an Experienced provider by MediFind in the treatment of Kabuki Syndrome. Her top areas of expertise are Glycogen Storage Disease Type 7, FG Syndrome, Mucopolysaccharidosis Type 2 (MPS II, Hunter Syndrome), and Von Gierke Disease. Dr. Mori is currently accepting new patients.

Brittany Simpson is a Medical Genetics specialist and a Pediatrics provider in Memphis, Tennessee. Dr. Simpson is rated as a Distinguished provider by MediFind in the treatment of Kabuki Syndrome. Her top areas of expertise are Rubinstein-Taybi Syndrome, Neurofibromatosis Type 1 (NF1), CHARGE Syndrome, and Neurofibromatosis.

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

Jessica Priestley is a Pediatrics specialist and a Medical Genetics provider in Grand Rapids, Michigan. Dr. Priestley has been practicing medicine for over 8 years and is rated as an Advanced provider by MediFind in the treatment of Kabuki Syndrome. Her top areas of expertise are Fabry Disease, Ornithine Transcarbamylase Deficiency, Biotinidase Deficiency, and Multiple Sulfatase Deficiency.

Robert Ward is a Neurologist in Saint Joseph, Michigan. Dr. Ward has been practicing medicine for over 40 years and is rated as an Advanced provider by MediFind in the treatment of Kabuki Syndrome. His top areas of expertise are Autosomal Dominant Partial Epilepsy with Auditory Features, Axillary Nerve Dysfunction, Seizures, and Memory Loss. Dr. Ward is currently accepting new patients.

Jonathan Bernstein is a Medical Genetics specialist and a Pediatrics provider in Palo Alto, California. Dr. Bernstein is rated as an Advanced provider by MediFind in the treatment of Kabuki Syndrome. His top areas of expertise are Hereditary Angioedema, Chronic Spontaneous Urticaria (CSU), Hypotonia, and Smith-Kingsmore Syndrome.

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 Kabuki Syndrome. Her top areas of expertise are Microcephaly, Chromosome 13q Deletion, Scalp-Ear-Nipple Syndrome, and Snyder-Robinson Syndrome.

Staci Kallish is a Medical Genetics provider in Philadelphia, Pennsylvania. Dr. Kallish is rated as an Experienced provider by MediFind in the treatment of Kabuki Syndrome. 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.

Dr. Jaqueline Weissman is an assistant professor in the Department of Neurology, Kennedy Krieger Institute, Department of Pediatrics Johns Hopkins Hospital and Institute of Genomic Medicine at Johns Hopkins Hospital. She is also director of the Center for Tuberous Sclerosis and Related Disorder at Kennedy Krieger Institute. She focuses on genetic and epigenetic causes of neurodevelopmental disorders - particularly intellectual disability - and how specific genetic and epigenetic changes lead to specific neuroanatomic, neurophysiologic and cognitive phenotypes. She is also interested in developing specific cognitive profiles in genetic syndromes as potential outcome measures for trials and to help localize deficits. Currently most of her research is centered around Kabuki Syndrome. Dr. Weissman received her B.A. with. Dr. Harris is rated as an Advanced provider by MediFind in the treatment of Kabuki Syndrome. Her top areas of expertise are Borjeson-Forssman-Lehmann Syndrome, Coffin-Lowry Syndrome, Galactosialidosis, and Odontotrichomelic Syndrome.

Elaine Zackai is a Medical Genetics specialist and a Pediatrics provider in Philadelphia, Pennsylvania. Dr. Zackai is rated as an Advanced provider by MediFind in the treatment of Kabuki Syndrome. Her top areas of expertise are Micrognathia, DiGeorge Syndrome, Hardikar Syndrome, Myringotomy, and Gastrostomy.

Donald Stewart is a primary care provider, practicing in Family Medicine in Sammamish, Washington. Dr. Stewart is rated as an Advanced provider by MediFind in the treatment of Kabuki Syndrome. His top areas of expertise are Galactosialidosis, Jumping Frenchmen of Maine, Borjeson-Forssman-Lehmann Syndrome, and Coffin-Lowry Syndrome.

Deborah Hall is a Neurologist in Chicago, Illinois. Dr. Hall is rated as an Advanced provider by MediFind in the treatment of Kabuki Syndrome. Her top areas of expertise are Fragile X Syndrome, Fragile XE Syndrome, Parkinson's Disease, and Movement Disorders. Dr. Hall is currently accepting new patients.

Leon Epstein is a Pediatric Neurologist and a Neurologist in Chicago, Illinois. Dr. Epstein is rated as an Advanced provider by MediFind in the treatment of Kabuki Syndrome. His top areas of expertise are Jumping Frenchmen of Maine, Stickler Syndrome, Galactosialidosis, and Coffin-Lowry Syndrome.

Robert Hopkin is a Medical Genetics specialist and a Pediatrics provider in Cincinnati, Ohio. Dr. Hopkin is rated as an Advanced provider by MediFind in the treatment of Kabuki Syndrome. His top areas of expertise are Fabry Disease, Neurofibromatosis Type 1 (NF1), Neurofibromatosis, Micrognathia, and Orchiectomy.

Evan-jacob Garcia is a Medical Genetics provider in Indianapolis, Indiana. Dr. Garcia is rated as an Advanced provider by MediFind in the treatment of Kabuki Syndrome. His top areas of expertise are Increased Head Circumference, Micrognathia, Microcephaly, and Coffin-Lowry Syndrome. Dr. Garcia is currently accepting new patients.