The 20 Best Kabuki Syndrome Doctors in The United States

Olaf Bodamer is a Medical Genetics provider practicing medicine in Boston, Massachusetts. Dr. Bodamer is rated as an Elite provider by MediFind in the treatment of Kabuki Syndrome. He is also highly rated in 51 other conditions, according to our data. His clinical expertise encompasses 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 practicing medicine in Baltimore, Maryland. Dr. Bjornsson is rated as an Elite provider by MediFind in the treatment of Kabuki Syndrome. He is also highly rated in 7 other conditions, according to our data. His clinical expertise encompasses Kabuki Syndrome, Weaver Syndrome, Coffin-Lowry Syndrome, Stickler 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. She is also highly rated in 10 other conditions, according to our data. Her clinical expertise encompasses Weaver Syndrome, Sotos Syndrome, Kabuki Syndrome, Marshall-Smith Syndrome, and Orchiectomy. Dr. Fahrner is board certified in American Board Of Medical Genetics And Genomics.

. Dr. Jonkers is rated as an Experienced provider by MediFind in the treatment of Kabuki Syndrome. She is also highly rated in 31 other conditions, according to our data. Her clinical expertise encompasses Lung Metastases, Cirrhosis, Familial Combined Hyperlipidemia, and Xanthoma. Dr. Jonkers is board certified in  .

. Dr. Russi is rated as an Experienced provider by MediFind in the treatment of Kabuki 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. 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. 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.

Jessica Priestley is a Pediatrics specialist and a Medical Genetics provider practicing medicine in Grand Rapids, Michigan. She has been practicing medicine for over 8 years. Dr. Priestley is rated as an Advanced provider by MediFind in the treatment of Kabuki Syndrome. She is also highly rated in 21 other conditions, according to our data. Her clinical expertise encompasses Fabry Disease, Biotinidase Deficiency, Ornithine Transcarbamylase Deficiency, and Multiple Sulfatase Deficiency. Dr. Priestley is board certified in American Board Of Medical Genetics And Genomics, American Board Of Medical Genetics And Genomics, and American Board Of Pediatrics.

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 Advanced provider by MediFind in the treatment of Kabuki 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.

Robert Ward is a Neurologist practicing medicine in Saint Joseph, Michigan. He has been practicing medicine for over 40 years. Dr. Ward is rated as an Advanced provider by MediFind in the treatment of Kabuki Syndrome. He is also highly rated in 31 other conditions, according to our data. His clinical expertise encompasses Autosomal Dominant Partial Epilepsy with Auditory Features, Axillary Nerve Dysfunction, Seizures, and Memory Loss. Dr. Ward is board certified in American Osteopathic Board Of Neurology & Psychiatry and American Osteopathic Board Of Neurology & Psychiatry. Dr. Ward is currently accepting new patients.

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 Kabuki 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.

Mari Mori is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Atlanta, Georgia. Dr. Mori is rated as an Experienced provider by MediFind in the treatment of Kabuki Syndrome. She is also highly rated in 5 other conditions, according to our data. Her clinical expertise encompasses FG Syndrome, Mucopolysaccharidosis Type 2 (MPS II, Hunter Syndrome), Von Gierke Disease, and Ornithine Transcarbamylase Deficiency. Dr. Mori is currently accepting new patients.

Michael Dowling is a Neurologist practicing medicine in Dallas, Texas. Dr. Dowling is rated as an Advanced provider by MediFind in the treatment of Kabuki Syndrome. He is also highly rated in 60 other conditions, according to our data. His clinical expertise encompasses Stroke, Moyamoya Disease, Seizures, Thrombectomy, and Craniectomy.

Garrett Gotway is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Dallas, Texas. Dr. Gotway is rated as an Advanced provider by MediFind in the treatment of Kabuki Syndrome. He is also highly rated in 132 other conditions, according to our data. His clinical expertise encompasses Caudal Duplication, 2q37 Deletion Syndrome, 47 XYY Syndrome, and Marshall Syndrome.

Angela Scheuerle is a Pediatrics specialist and a Medical Genetics provider practicing medicine in Dallas, Texas. Dr. Scheuerle is rated as an Advanced provider by MediFind in the treatment of Kabuki Syndrome. She is also highly rated in 170 other conditions, according to our data. Her clinical expertise encompasses Hennekam Syndrome, Fetal Akinesia Sequence, Hemihyperplasia, and Incontinentia Pigmenti.

Kosuke Izumi is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Dallas, Texas. Dr. Izumi is rated as an Advanced provider by MediFind in the treatment of Kabuki Syndrome. He is also highly rated in 11 other conditions, according to our data. His clinical expertise encompasses Pallister-Killian Mosaic Syndrome, Micrognathia, Hypotonia, and Mosaicism.

Karen Gripp is a Medical Genetics provider practicing medicine in Wilmington, Delaware. Dr. Gripp is rated as an Advanced provider by MediFind in the treatment of Kabuki Syndrome. She is also highly rated in 122 other conditions, according to our data. Her clinical expertise encompasses Costello Syndrome, RASopathies, Noonan Syndrome, and Gingival Fibromatosis with Hypertrichosis.

Stephanie Campbell is a Pediatrics provider practicing medicine in Royal Oak, Michigan. She has been practicing medicine for over 10 years. Dr. Campbell is rated as an Experienced provider by MediFind in the treatment of Kabuki Syndrome. She is also highly rated in 3 other conditions, according to our data. Her clinical expertise encompasses Increased Head Circumference, Delayed Growth, Congenital Athymia, and Acromesomelic Dysplasia Campailla Martinelli Type. Dr. Campbell is board certified in American Board Of Pediatrics. Dr. Campbell is currently accepting new patients.

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 Experienced provider by MediFind in the treatment of Kabuki 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.

Sherri Pas is a Pediatrics specialist and a Sleep Medicine provider practicing medicine in Tyler, Texas. Dr. Pas is rated as an Experienced provider by MediFind in the treatment of Kabuki Syndrome. She is also highly rated in 12 other conditions, according to our data. Her clinical expertise encompasses Obstructive Sleep Apnea, Periodic Limb Movement Disorder, Excessive Daytime Sleepiness, and Drowsiness. Dr. Pas is board certified in American Osteopathic Board Of Neurology & Psychiatry.

Jodi Hoffman is a Medical Genetics provider practicing medicine in Plymouth, Massachusetts. Dr. Hoffman is rated as an Experienced provider by MediFind in the treatment of Kabuki Syndrome. She is also highly rated in 5 other conditions, according to our data. Her clinical expertise encompasses Bosma Arhinia Microphthalmia Syndrome, Brittle Cornea Syndrome, Vascular Ehlers-Danlos Syndrome (VEDS), and Ehlers-Danlos Syndrome (EDS). Dr. Hoffman is board certified in American Board Of Medical Genetics And Genomics.