Professional Directory

Welcome to the Professional Directory

The purpose of the directory is to allow professionals with considerable experience with Kabuki to share their knowledge with those who may only see one or two children in their careers. The members have usually had experience with multiple children and are able to recognize the differing presentations of the syndrome. If you would like to be added to the list of contacts on this page, please contact KSN.

Name Country Occupation
Dr. Helga Toriello United States Medical Geneticist

Dr. Toriello is a medical geneticist with Spectrum Health (which is the result of a merger between Butterworth and Blodgett Hospitals). She primarily functions as a dysmorphologist in the genetics clinic, and has made an...

Read more >>
Dr. Gisele Oliveira Brazil Pediatric Clinical Geneticist

Dr. Oliveira is a pediatrician and clinical geneticist. She did her graduate research at the Department of Medical Genetics at the University of Campinas (UNICAMP) in São Paulo, Brazil. Her research focused on finding a...

Read more >>
Dr. Antonia Paula Marques-de-Faria Brazil Clinical Geneticist

Dr. Marques-de-Faria is a physician and a clinical geneticist. She works as a doctor and teacher at the Department of Medical Genetics, which she currently chairs, in the State University of Campinas (UNICAMP), São Paulo...

Read more >>
Dr. Dian Donnai United Kingdom Geneticist

Dr. Donnai's centre, which serves a population of 4.5 million, has seen approximately 17 cases of KS. Dr. Donnai hopes that a recent meeting the centre held for families with KS will result in an informal support network...

Read more >>
Dr. Connie Schrander-Stumpel Netherlands Clinical Geneticist

Connie Schrander-Stumpel is professor of Clinical Genetics at the University of Maastricht, the Netherlands. She is head of the clinical genetic outpatient department, diagnosed several children with Kabuki syndrome and...

Read more >>
Dr. Jaap Schrander Netherlands Pediatrician

Jaap Schrander is the paediatrician involved with the Dutch Kabuki Network. He follows a number of children with Kabuki syndrome. Preventive management in this, and the many other genetic syndromes, is his main interest....

Read more >>
Dr. Angelo Selicorni Italy Pediatrician and Medical Geneticist

Dr. Selicorni is a pediatrician and medical geneticist working in a pediatric department. He is involved in the diagnosis and in the medical follow-up of patients with possible genetic syndromes. Dr. Selicorni has been...

Read more >>
Dr. Robert Lederman Israel Behavioral Optometrist

Robert Lederman is a Behavioral Optometrist and a Fellow of the College of Optometrists in Vision Development. Behavioral Optometry recognises the central role the visual system plays in governing performance. All his...

Read more >>
Dr. Hiroshi Kawame Japan Pediatric Clinical Geneticist

Dr. Hiroshi Kawame is a pediatric clinical geneticist. He is a Professor at the Department of Genetic Counselling in Tokyo. Dr. Kawame has worked with Bonnie Pagon, Louanne Hudgins, and Mark Hannibal at the Children's...

Read more >>
Dr. Yoshikazu Kuroki Japan Clinical Geneticist, Dysmorphologist, and Pediatrician

Dr. Kuroki is a clinical geneticist, dysmorphologist and pediatrician. He is a medical director of Kanaawa Children's Medical Centere and director of Medical Genetics Division. He described the first Kabuki cases in the...

Read more >>