Siddharth Banka practices in Manchester, United Kingdom. Mr. Banka is rated as an Elite expert by MediFind in the treatment of Kabuki Syndrome. His top areas of expertise are Kabuki Syndrome, Increased Head Circumference, Robinow Syndrome, and Achalasia Microcephaly Syndrome.

Giuseppe Merla practices in Foggia, Italy. Mr. Merla is rated as an Elite expert by MediFind in the treatment of Kabuki Syndrome. His top areas of expertise are Kabuki Syndrome, Supravalvular Aortic Stenosis, Williams Syndrome, and Pulmonary Supravalvular Stenosis.

Dina Schott practices in Heerlen, Netherlands. Ms. Schott is rated as an Elite expert by MediFind in the treatment of Kabuki Syndrome. Her top areas of expertise are Kabuki Syndrome, Pediatric Growth Hormone Deficiency, Growth Hormone Deficiency (GHD), Hypopituitarism, and Hormone Replacement Therapy (HRT).

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.

Noriko Miyake practices in Tokyo, Japan. Ms. Miyake is rated as an Elite expert by MediFind in the treatment of Kabuki Syndrome. Her top areas of expertise are Coffin-Siris Syndrome, Kabuki Syndrome, Microcephaly, Fasciotomy, and Bone Marrow Transplant.

Naomichi Matsumoto practices in Kawaguchi, Japan. Matsumoto is rated as an Elite expert by MediFind in the treatment of Kabuki Syndrome. Their top areas of expertise are West Syndrome, Coffin-Siris Syndrome, Neuronal Intranuclear Inclusion Disease (NIID), Gastrostomy, and Pancreaticoduodenectomy.

David Genevieve practices in Montpellier, France. Mr. Genevieve is rated as an Elite expert by MediFind in the treatment of Kabuki Syndrome. His top areas of expertise are Kabuki Syndrome, KBG Syndrome, Achalasia Microcephaly Syndrome, and Microcephaly.

Stanislas Lyonnet practices in Paris, France. Lyonnet is rated as an Elite expert by MediFind in the treatment of Kabuki Syndrome. Their top areas of expertise are Micrognathia, Kabuki Syndrome, Hirschsprung Disease, and Treacher Collins Syndrome.

Sara Cuvertino practices in Manchester, United Kingdom. Ms. Cuvertino is rated as an Elite expert by MediFind in the treatment of Kabuki Syndrome. Her top areas of expertise are Kabuki Syndrome, Micrognathia, Bazex Syndrome, and Coloboma.

Maria Gnazzo practices in Rome, Italy. Ms. Gnazzo is rated as an Elite expert by MediFind in the treatment of Kabuki Syndrome. Her top areas of expertise are KBG Syndrome, Kabuki Syndrome, Bone Dysplasia Corpus Callosum Agenesis, and Ventricular Septal Defects.

Maria Digilio practices in Rome, Italy. Ms. Digilio is rated as an Elite expert by MediFind in the treatment of Kabuki Syndrome. Her top areas of expertise are KBG Syndrome, Kabuki Syndrome, Partial Atrioventricular Canal, and Atrioventricular Septal Defect.

Victor Faundes practices in Santiago, Chile. Mr. Faundes is rated as an Elite expert by MediFind in the treatment of Kabuki Syndrome. His top areas of expertise are Kabuki Syndrome, Fragile X Syndrome, Mosaicism, and Camptodactyly Syndrome Guadalajara Type 2.

Constance Stumpel practices in Maastricht, Netherlands. Ms. Stumpel is rated as an Elite expert by MediFind in the treatment of Kabuki Syndrome. Her top areas of expertise are Kabuki Syndrome, Triple X Syndrome, Floating-Harbor Syndrome, and Increased Head Circumference.

Adam Stevens practices in Manchester, United Kingdom. Mr. Stevens is rated as an Elite expert by MediFind in the treatment of Kabuki Syndrome. His top areas of expertise are Kabuki Syndrome, Turner Syndrome, Pediatric Growth Hormone Deficiency, and Growth Hormone Deficiency (GHD).

Susan Kimber practices in Manchester, United Kingdom. Ms. Kimber is rated as an Elite expert by MediFind in the treatment of Kabuki Syndrome. Her top areas of expertise are Kabuki Syndrome, Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy, Deafness Craniofacial Syndrome, and Choanal Atresia.

Terence Garner practices in Manchester, United Kingdom. Mr. Garner is rated as an Elite expert by MediFind in the treatment of Kabuki Syndrome. His top areas of expertise are Kabuki Syndrome, Pediatric Growth Hormone Deficiency, Growth Hormone Deficiency (GHD), and Small for Gestational Age.

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.

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.