Universidad Nacional de Buenos Aires, Argentina
M.D. 03/1981 Medicine
Beth Israel Medical Center, New York ABP Diplomate 06/1991
Pediatrics Residency
Cedars-Sinai Medical Center, Los Angeles ABMGG Diplomate 06/1994
Genetics fellowship (Clinical, Molecular and Cytogenetics)

A. Personal Statement
I have worked in the field of clinical genetics for over 27 years and trained in the fields of clinical genetics, cytogenetics and molecular testing. Over the past decade I have been involved in the detection, delineation and treatment of patients with rare disorders driven by the recent technological advances. I am currently a Co-PI and master clinician for the BCM site in the Undiagnosed Disease Network effort sponsored by the NIH. I am currently working in several clinical research protocol trials funded by industry to assess the effects of cartilage natriuretic peptide (CNP) in achondroplasia. I am also PI for clinical research studies in Angelman syndrome.
B. Positions and Honors
Positions and Employment
1982-1983 Fellow-Medical Genetics at Inst Nacional de Genetica Medica, Buenos Aires
1983-1984 Staff in Genetics, Hospital de Niños de San Justo, Buenos Aires
1984-1986 Fellow in Immunogenetics, The New York Blood Center, New York, NY
1986-1988 Post-doc in Cytogenetics, Cornell University, New York, NY
1986-1988 Norman and Rosita Winston Fellow Award in Biochemical Research
1988-1991 Resident in Pediatrics, Beth Israel Medical Center, New York, NY
1991-1994 Fellow in Genetics, Cedars-Sinai Medical Center, Los Angeles, CA
1995-2004 Assistant Professor, Department of Molecular and Human Genetics, Baylor College of Medicine
2001-present Director, Kleberg Genetics Clinic, Baylor College of Medicine
2002-present Medical Director, Cytogenetics Laboratory, Baylor Genetics
2005-2011 Associate Professor, Department of Molecular and Human Genetics, Baylor College of Medicine
2011-present Professor, Department of Molecular and Human Genetics, Baylor College of Medicine
2015-present Vice Chair Clinical Affairs, Department of Molecular and Human Genetics, Baylor College of Medicine
2017-2023 Board of Directors ABMGG