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Medical Advisory Board Members
William G. Mackenzie, M.D. (Chairman)
Pediatric Orthopaedic Surgeon
Alfred I. duPont Hosp. For Children
P.O. Box 269
1600 Rockland Road
Wilmington, DE 19899
Phone: (302) 651-5890
Fax: (302) 651-5951
Michael C. Ain, M.D.
Associate Professor, Orthopaedic and Neurosurgery
Director, Orthopaedic Residency Program
Johns Hopkins Pediatric Orthopaedic Surgery
601 North Caroline St., Room 5253
Baltimore, MD 21287
Phone: (410) 955-3135
Fax: (443) 287-5995
Gary A. Bellus, M.D., Ph.D.
Clinical Genetics and Metabolic Services
University of Colorado / The Children's Hospital
13121 E. 17th Avenue, 8400
P.O. Box 6508
Aurora, CO 80045
Phone: (303) 724-2370 / (800) 458-6000
Fax: (720) 777-7322
Robert M. Bernstein, M.D.
Chief, Pediatric Orthopaedic Surgery
Steven & Alexandra Cohen Children's Medical Center of NY
269-01 76th Avenue - Suite 365
New Hyde Park, NY 11040
Phone: (718) 470-3570
Fax: (718) 470-3472
Michael B. Bober, M.D., Ph.D.
Assistant Professor of Pediatrics
Thomas Jefferson Medical College
Co-Director, Skeletal Dysplasia Program
Division of Medical Genetics
A.I. duPont Hospital for Children
1600 Rockland Road
Wilmington, DE 19803
Phone: (302) 651-5916
Elizabeth R. Elder, M.S.
Retired Research Director
5112 Elder Road
Hydes, MD 21082
Clair A. Francomano, M.D.*
Director, Adult Genetics
The Harvey Institute for Human Genetics
6701 N. Charles St., Suite 2326
Baltimore, MD 21204
Phone: (443) 849-3131
Fax: (443) 849-2919
Jacqueline T. Hecht, Ph.D.
Professor of Pediatrics
Vice Chair for Research
6431 Fannin St., Room 3.136
Houston, TX 77030
Phone: (713) 500-5764
Fax: (713) 500-5689
Julie Hoover-Fong, M.D., Ph.D.
Director, Greenberg Center for Skeletal Dysplasias
McKusick-Nathans Institute of Genetic Medicine
Johns Hopkins University
600 N. Wolfe Street / Blalock 1008
Baltimore, MD 21287
Phone: (410) 955-3071
Fax: (410) 502-2375
William A. Horton, M.D.
Director, Research Center
Shriners Hospital for Children
Professor of Molecular and Medical Genetics
Oregon Health & Science University
Portland, OR 97239
Phone: (503) 221-1537
Fax: (503) 221-3451
Richard Kerbavaz, M.D.
Otolaryngology-Head and Neck Surgery
East Bay Head and Neck Surgery
2316 Dwight Way
Berkeley, CA 94704
Phone (510) 845-4500
Fax (510) 845-0360
Deborah Krakow, M.D.
OB/GYN and Human Genetics
UCLA School of Medicine
615 Charles E. Young Drive, South
Room 410B
Los Angeles, CA 90095
Phone: (310) 983-1252
Ralph Lachman, M.D.
International Skeletal Dysplasia Registry
Cedars-Sinai Medical Center
8700 Beverly Blvd., PAC 4th Floor
Los Angeles, CA 90048
Phone: (310) 423-9915
Fax: (310) 423-1528
Website: http://isdr.csmc.edu/
Carol A. Mathews, M.D.
Associate Professor
Program for Genetics and Epidemiology of Neuropsychiatric Symptoms
Director, Obsessive Compulsive Disorders Clinic
Department of Psychiatry
University of California, San Francisco
401 Parnassus Ave, Box F-0984
San Francisco, CA 94143
Phone: (415) 476-7702
Fax: (415) 476-7389
Kathleen (Dee) Miller
Senior Clinical Program Coordinator
Greenberg Center for Skeletal Dysplasias
Johns Hopkins Hospital - Blalock 1008
600 North Wolfe St.
Baltimore, MD 21287-4922
Phone: (410) 614-0977
Fax: (410) 502-2375
E-mail: spirit.miller@gmail.com
Michelle Moore, M.S., C.G.C.
Certified Genetic Counselor
Memorial Hospital
Maternal Fetal Medicine
1400 Boulder
Colorado Springs, CO 80909
Phone: (719) 365-5960
Fax: (719) 365-5977
Sarah Nikkel, M.D.
Clinical Geneticist
Children's Hospital of Eastern Ontario
401 Smyth Road
Ottawa, Ontario, Canada K1H 8L1
Phone: (613) 737-7600 ext. 3218
Fax: (613) 738-4220
Ericka Okenfuss, M.S., C.G.C
Certified Genetic Counselor
Skeletal Dysplasia Clinic Coordinator
Kaiser Permanente - Genetics
1650 Response Road
Sacramento, CA 95815
Phone: (916) 614-5177
Fax: (916) 614-4768
E-mail: erickamrd@gmail.com
Richard M. Pauli, M.D., Ph.D.*
Clinical Genetics Center - Room 353
University of Wisconsin
1500 Highland Ave.
Madison, WI 53706-2280
Phone: (608) 262-6228
Fax: (608) 263-3496
Mary Ann Priore
International Skeletal Dysplasia Registry (Ret.)
Cedars-Sinai Medical Center
8700 Beverly Blvd., PAC 4th Floor
Los Angeles, CA 90048
Phone: (310) 423-9915
Fax : (310) 423-1528
Website: http://isdr.csmc.edu/
E-mail: map24120@yahoo.com
Cheryl S. Reid, M.D., FAAP, FACMG*
Medical Director, Horizon NJ Health
Mail: 5 Eaglebrook Court,
Moorestown, NJ 08057
Email: csreid@comcast.net
David L. Rimoin, M.D., Ph.D.*/**
Director, Medical Genetics Institute
Steven Spielberg Chair and Distinguished Professor of Pediatrics
Cedars-Sinai Medical Center
8700 Beverly Blvd, PACT 4
Los Angeles, CA 90048
Phone: (310) 423-4461
Fax: (310) 423-0462
Charles I. Scott, Jr., M.D.*
Co-Director, Skeletal Dysplasia Program
Division of Medical Genetics
A.I. duPont Institute
P.O. Box 269
1600 Rockland Road
Wilmington, DE 19899
Phone: (302) 651-5916
Fax: (302) 651-5033
Email: cscott@nemours.org
George E. Tiller, M.D., Ph.D.
Regional Chief, Southern California Permanente Medical Group
Department of Genetics
Kaiser Permanente
Los Angeles Medical Center
4900 Sunset Blvd., 3rd Floor
Los Angeles, CA 90027
Phone: (323) 783-5612
Fax: (323) 783-5208
Michael Wright, MB, ChB
Institute of Human Genetics
International Centre for Life
Central Parkway
Newcastle upon Tyne
NE 1 3BZ
United Kingdom
Phone: +44 191-241-8758
Fax: +44 191-241-8799
Annie Yahner, RD, LD
Registered Dietitian / Nutritionist
Regional Skeletal Dysplasia Center
Akron Children's Hospital
300 Locust Street, Suite 160
Akron, OH 44302
Phone: (330) 543-7613
Email: ayahner@chmca.org / ayahner@sbcglobal.net
*Honorary life members
** Deceased
This page was last updated 08/20/2012
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