Photo of Mansoor  Sarfarazi, Ph.D., FARVO

Mansoor Sarfarazi, Ph.D., FARVO

Professor, Surgery & Human Molecular Genetics
Academic Office Location:
Molecular Ophthalmic Genetics Laboratory
Division of Surgical Research
Department of Surgery
University of Connecticut Health Center
Farmington, CT 06030-1110
Phone: 860-679-3629
860-679-3923
Fax: 860-679-7524
Email: Mansoor@Neuron.uchc.edu
Rsharafieh@uchc.edu
Website(s): Molecular Ophthalmic Genetics Laboratory
Division of Surgical Research
Division of Ophthalmology (Eye Care Center)

Genetics & Developmental Biology Graduate Program
UCONN Biomedical Engineering Graduate Program

The Molecular Ophthalmic Genetics Laboratory is interested in human gene mapping, gene identification, mutation screening, population studies as well as in vivo and in vitro analyses of a number of human disease genes that were previously identified by our team.

Our enterprise is to study biological pathways that are involved in the etiology of a group of blinding ocular disorders collectively known as, Glaucoma. In addition to 4 Glaucoma-causing genes previously identified by our group (CYP1B1, OPTN, WDR36 & GLC1D), we are currently aiming to identify & study the interaction of 100s of new genes that are expected to be involved in the etiology of different forms of Glaucoma, by employing a large collection of familial and sporadic cases and by utilizing the Next-Generation Exome & DNA Sequencing Methodologies. Ultimately, this translational research provides a valuable correlation matrix between the types of genes mutations (genotype) and variety of clinical presentations (phenotype) thus, paving the path for better patient management, drug development, Genome-based therapy and a comprehensive Personalized Genomic Medicine.

Education
DegreeInstitutionMajor
Ph.D.University of Wales College of MedicineHuman Genetics
B.Sc.University of Ferdowsi (Mashhad)General Biology

Post-Graduate Training
TrainingInstitutionSpecialty
FellowshipInstitute of Medical Genetics, University of Wales College of Medicine, Cardiff, United KingdomHuman Genetics, Disease Gene Mapping, Linkage & Statistical Analyses, Database Management System & Software Developments

Awards
Name of Award/HonorAwarding Organization
FARVO (Jan. 2013): Silver Fellow of ARVO (The Association for Research in Vision and Ophthalmology; Rockville, Maryland)Association for Research in Vision & Ophthalmology
Invitee at the 19th Annual Glaucoma Foundation Optic Nerve Rescue and Restoration Think Tank meeting (Sep. 2012) on EXFOLIATION SYNDROME: GEARING UP FOR A CURE The Glaucoma Foundation; New York, N.Y.
Visiting Professor (Jan. 2010): Glaucoma Genetics: Past, Present and FutureIndiana University, Department of Ophthalmology
Invitee at the 17th Annual Glaucoma Foundation Optic Nerve Rescue and Restoration Think Tank meeting (Sep. 2010) on COMPLEX GENETICS AND GENOMICS: METHODS FOR BREAKTHROUGHS The Glaucoma Foundation; New York, N.Y.
Visiting Professor (Apr. 2009): Review of Glaucoma GeneticsHong Kong University, Department of Ophthalmology
Visiting Professor (Apr. 2009): Mapping of Disease GenesHong Kong Hospital Authority Training Program
Keynote Speaker (Apr. 2009): Impact of Bioinformatics on Genomic Research Hong Kong Hospital Authority Training Program
Invitee at the 16th Annual Glaucoma Foundation Optic Nerve Rescue and Restoration Think Tank meeting (Sep. 2009) on "EXFOLIATION SYNDROME: THE FIRST POTENTIALLY CURABLE GLAUCOMA" The Glaucoma Foundation; New York, N.Y.
Invited Speaker (Dec. 2008): Glaucoma Genetics: Past, Present and FutureCenter for Molecular Medicine, UCHC
Invited Speaker (Nov. 2008): Molecular Challenges in Glaucoma Genetics General Clinical Research Center, UCHC
Invited Speaker at The World Ophthalmology Conference (WOC-IMBG) (Jul. 2008): The Glaucoma Genes Hong Kong, China
Visiting Professor (Jul. 2008): Challenges in Glaucoma GeneticsZhongshan Ophthalmic Center, Guangzhou, China
Visiting Professor (Jul. 2008): Functional Approaches to Gene Mapping and Gene SelectionWorld Ophthalmology Conference (WOC-IMBG)
The Julius Silver Visiting Professor Lecture (Jun. 2007): Clinical and Molecular Challenges in Glaucoma Genetics New York Univ. School of Medicine, Ophthalmology
Invited Speaker (Feb. 2007): Application of Molecular Genetics in Inherited Ocular Disorders and Patient Management Surgery Research Day, Ophthalmology, UCHC
JULES AND DORIS STEIN RPB PROFESSORSHIP (2007): In Recognition of Superior Scientific Endeavor and, for advancing research efforts to preserve and restore vision, bringing hope to millions threatened with loss of sightResearch to Prevent Blindness (RPB)
Visiting Professor (Jul. 2006): Utilization of Genetic, Genomic & Proteomic in Glaucoma Gene Discovery Moorfields Eye Hospital, London, U.K.
Visiting Professor (Aug. 2006): Concepts of Functional Genomics; The 7th Asia Pacific Society of Eye Genetics Symposium (APSEG) Hong Kong University, Department of Ophthalmology
Visiting Professor (Jul. 2006): Utilization of Genetic, Genomic & Proteomic in Glaucoma Gene DiscoveryCole Eye Institute, Cleveland, OH
Visiting Professor (Oct. 2006): Common Challenges in Glaucoma GeneticsCole Eye Institute, Cleveland, OH
Visiting Professor (Sep. 2006): Application of Molecular Genetics to Glaucoma Risk Assessment and Patient Managements New York Eye & Ear Infirmary
Keynote Speaker at The 7th Asia Pacific Society of Eye Genetics Symposium (APSEG); (Aug. 2006): Common Challenges in Glaucoma Genetics Hong Kong University, Department of Ophthalmology
Keynote Speaker at The International Symposium of Ophthalmology (ISO); (Aug. 2006): Application of Glaucoma Genetics in Patient ManagementHong Kong, China
Invited Speaker (Feb. 2005): Advances in Molecular Genetics of Glaucoma: From Gene Mapping to Protein Expression Profiling Ophthalmology Grand Round, UCHC
Keynote Speaker (Sep. 2005): Gene Identification and Protein Characterization of Glaucoma-Causing MoleculesOcular Cell & Molecular Biology; Sarasota, FL
Visiting Professor (Dec. 2004): Advances in Molecular Genetics of Glaucoma: From Gene Mapping to Protein Expression ProfilingUniversity of Miami, Ophthalmology; Miami, FL
Visiting Professor (Nov. 2003): Gene Cloning, Protein Characterization and Mutation Screening of Optineurin in Adult-Onset Primary Open Angle GlaucomaUniversity of Southern California; Los Angeles, CA
Keynote Speaker at the Finnish Glaucoma Society Annual Meeting (Apr. 2003): Glaucoma Genetics: Past, Present and FutureUniversity of Helsinki; Helsinki, Finland
Invited Speaker (Apr. 2003): Role of Optineurin in Patients with Low Pressure Glaucoma (LPG)University of Erlangen LPG Workshop; Germany
Invited Speaker (Apr. 2003): Molecular Genetics of Pseudoexfoliation Syndrome (PEX): An Update University of Erlangen PEX Workshop; Germany
Visiting Professor (Jun. 2003): Molecular Genetics Studies of Glaucoma: A Decade of Achievements and Setbacks University of Alberta, Canada
Visiting Professor (Feb. 2003): Molecular Characterization of Open Angle Glaucoma Yale Eye Center Grand Round; New Haven, CT
The Clement McCulloch Keynote Lecture (May 2002): Impact of Molecular Genetics on Management and Diagnosis of Glaucoma; Department of Ophthalmology and Vision Sciences Annual Department Research DayUniversity of Toronto, Canada
Visiting Professor (Jun. 2002): Molecular Determination and Characterization of Glaucoma-Causing GenesWashington Univ., Ophthalmology; St. Louis, MO
Invited Speaker (Sep. 2000): Genetics of Primary LymphedemaNational Lymphedema Network
The George Spaeth Keynote Lecture (Mar. 2000): The Impact of the Human Genome Project on Your Lives and the Lives of Your Patients Wills Eye Hospital, Philadelphia, PA
Invited Speaker (Mar 1999): Review on Genetics of Glaucoma Symposium on Ophthalmogenetics. Erlangen, Germany
Keynote Speaker (Apr 1999): Strategies for positional mapping, cloning and mutation screening of an unknown inherited disease geneCongress of Genetic Disorders & Disabilities, Iran
Invited Speaker (Apr 1999): Molecular Genetics Studies of Primary GlaucomaCongress of Genetic Disorders & Disabilities, Iran
Invited Speaker (May 1999): Molecular Genetics of Pseudoexfoliation Syndrome. ARVO Special Interest Group meeting on “Genetics of Pseudoexfoliation Syndrome”Fort Lauderdale; Florida
Invited Speaker (Feb. 1999): An International Symposium on "The Frontier of Human Genome Analysis: Newly Discovered Disease Genes" Keio University, Tokyo, Japan
Invited Speaker (Jun. 1997): Molecular Genetics of Congenital GlaucomaYale Eye Center Grand Round; New Haven, CT
Visiting Professor (Aug. 1997): Molecular Genetics study of families with Pseudoexfoliation Hacettepe University; Ankara, TURKEY
Invited Speaker (Sep 1997): Primary congenital glaucoma results from different mutations in the structural core of Cytochrome P4501B1 (CYP1B1). 2nd. International symposium on experimental and clinical ocular pharmacology and pharmaceutics. Munich, GermanyOcular Pharmacology and Pharmaceutics
Invited Speaker (Oct. 1997): Molecular Genetics of Congenital Glaucoma. American Association of Ophthalmology (AAO) meeting AAO Meeting; San Francisco, CA
Invited Speaker (Nov. 1997): Mutation Screening of Congenital Glaucoma (Glaucoma Think Tank Meeting)Bermuda
Invited Speaker (Nov. 1996): Bucharest University HospitalBucharest, Romania
Visiting Professor (1995): Department of Ophthalmology, Ankara University, Turkey AND Department of Medical Biology & Genetics, Akdeniz Univ. Antalya, TurkeyAnkara & Antalya, Turkey
Invited Speaker (1993): Application of Molecular Genetics and DNA Diagnosis; The Cystic Fibrosis Model St. Francis Hospital; Hartford, CT
Visiting Professor (1994): Department of Ophthalmology, University of Montreal, CanadaMontreal, Canada
Visiting Professor (1993): Department of Medical Biology & Genetics, Ankara University, TurkeyAnkara, Turkey
Invited Speaker (1992): Department of Obstetrics and Gynecology in the University of AthensAthens, Greece
Invited Speaker (1992): Department of Pathology in Ninewells Hospital & Medical School, Dundee, UKDundee, UK
Invited Speaker (Dec. 1992): International Glaucoma AssociationLondon, U.K.
Invited Speaker (Sep. 1991): Glaucoma Unit of King’s College HospitalKing's College Hospital, London, U.K.
Invited Course Instructor (Apr. 1991): International School of Medical GeneticsTrieste, Italy
Invited Speaker (May 1990): Lectured to Clinicians in Athens University; Attended an International Conference on Human Gene Mapping in Corfu, GreeceUniversity of Athens, Greece
Invited Speaker (Aug. 1990): St. George’s Hospital, University of London University of London
Invited Speaker (Sep. 1990): International Conference on Facioscapulohumeral Muscular DystrophyMunich, Germany
Invited Course Instructor (Apr. 1987): European School of Medical GeneticsSestri Levante, Italy
Teaching and training of individual Undergraduate Students, Graduate Students, Ph.D. Candidates, Medical Residents, Visiting Scientists, Postdoctoral Ph.D. and M.D. Research Fellows on various aspects of Human and Molecular Genetics. Taught at the Bioinformatics Workshop organized by the Hong Kong Hospital Authority Commissioned Training Program: "Impact of Bioinformatics on Genome Research" and "Mapping of Disease Genes", April 2009 Taught the "Principal of Population Genetics", "Statistical Genetics", "Human Pedigree and Linkage Analysis" to the Clinical Genetics’ Fellows within the Division of Human Genetics, Department of Pediatrics, UCHC. Taught “Advanced Human Genetics Course” to Students of the “Developmental Biology & Genetics Graduate" Program. Taught "Population Genetics and Multifactorial Inheritance" and contributed to the teaching of BMS-Human Genetics course to the UCHC Medical & Dental Students (1990-1992). Taught in the courses of the International School of Medical Genetics, Trieste, Italy, April 1991. Taught in the "Senior Registrar Courses" organized by the Institute of Medical Genetics, Cardiff, U.K., 1988. Taught in the courses of the European School of Medical Genetics, Sestri Levante, Italy, April 1987. Taught in the "Senior Registrar Courses" organized by the Institute of Medical Genetics, Cardiff, U.K., 1986. Participated in the training of the Clinical Genetics Research Fellows within the Institute of Medical Genetics, Cardiff, U.K.; 1983 to 1989.
Molecular Genetics Studies of Glaucoma Glaucoma is a group of blinding inherited ocular disorders that affects over 70 million people worldwide. The clinical manifestation of this condition extends from birth to 80 years of age. Over the last 2 decades, our laboratory has identified and published 8 genetic loci for this condition {i.e., GLC3A, GLC3B, GLC3C for Primary Congenital Glaucoma (PCG); GLC1B, GLC1D, GLC1E, GLC1G and GLC1H for Primary Open Angle Glaucoma (POAG)} and further cloned 4 Glaucoma-causing genes {i.e., CYP1B1 (Cytochrome P450 1B1) as the first "PCG" gene; Optineurin (For Optic Neuropathy Inducing protein; OPTN) as the first “Normal Tension" Adult-Onset POAG gene; also WDR36 (WD40 Repeat Protein) and GLC1D for “High Tension" Adult-Onset POAG}. Over the years, we utilized a series of in vivo and in vitro experiments to determine the functional significance of these genes in the etiology of glaucoma. We cloned the orthologue of OPTN gene in both mouse and Rhesus monkey and further studied its mRNA distribution and protein in various human, monkey and mouse ocular and non-ocular tissues and cell lines. Ocular profilling of OPTN with 5 of its interacting proteins of FOS, RAB8, MYO6, Huntingtin and mGluR1a showed specific pattern of expression & differential co-localization with each of these OPTN-IPs. Similar studies for other glaucoma-causing and/or their proven interacting-proteins are the subject of future investigations. Molecular Genetics Studies of Other Inherited Conditions Our laboratory also mapped and cloned CHX10 and OTX2 genes for Microphthalmia; HOXD13 for Synpolydactyly (Syndactyly Type II) and; GDF5 for Multiple Synostosis Type II. Furthermore, our research team had been involved in molecular genetics studies of Pseudoexfoliation Syndrome, Closed Angle Glaucoma, Rieger's & Axenfeld Syndromes, Optic Atrophy (Juvenile Kjer Type), Leber Congenital Amaurosis, Strabismus, Inherited Lymphedemas (Milroy & Meige), Learning Disabilities (Dyslexia) and Mitral Valve Prolapse. Ongoing Studies Currently, we are utilizing the Next-Generation Exome & DNA Sequencing Technologies to identify new defective genes for various forms of Glaucoma, as well as a number of other above-mentioned clinical disorders. Our aim is to establish a firm correlation between the type of gene-mutation(s) and clinical progression of the disease phenotype. This in turn can be used as a translational research tool for accurate clinical management of the patient population worldwide, as well as development of new drug therapies and, much anticipated, Personalized Genomic Medicine.

Accepting students for lab rotations for Summer '13. Fall '13, Spring '14.

Journal Articles

Book Chapters

  • Molecular Genetics of Primary Congenital Glaucoma
    Sharafieh R., Child A.H., Sarfarazi M. Genetic Diseases of the Eye 2012 Jan;Chapter 17: 295-310
  • Molecular Genetics of Primary Open Angle Glaucoma
    Child A.H., Pereira da Silva F.M., Aragon-Martin J., Sharafieh R., Sarfarazi M. Genetic Diseases of the Eye 2012 Jan;Chapter 18: 311-332
  • Roles of CYP1B1, Optineurin and WDR36 Gene Mutations in Glaucoma
    Sarfarazi M., Monemi S., Choudhary D., Rezaie T., Schenkman J.B. Ophthalmology Research: Mechanisms of the Glaucomas. Disease Processes and Therapeutic Modalities 2008 Jan;Chapter 16: 233-273
  • Genetics and biochemistry of primary congenital glaucoma.
    Sarfarazi, Mansoor; Stoilov, Ivaylo; Schenkman, John B Ophthalmology clinics of North America 2003 Dec;16(4):543-54, vi
  • Optineurin in primary open angle glaucoma.
    Sarfarazi, Mansoor; Rezaie, Tayebeh Ophthalmology clinics of North America 2003 Dec;16(4):529-41
  • Genetics in Glaucoma
    Sarfarazi M., Stoilov I. Ophthalmic Fundamentals: Glaucoma 1999 Jan;Chapter Two: pp 15-31
  • Patient genotypes impact survival after surgery for isolated congenital heart disease.
    Kim, Daniel Seung; Kim, Jerry H; Burt, Amber A; Crosslin, David R; Burnham, Nancy; McDonald-McGinn, Donna M; Zackai, Elaine H; Nicolson, Susan C; Spray, Thomas L; Stanaway, Ian B; Nickerson, Deborah A; Russell, Mark W; Hakonarson, Hakon; Gaynor, J William; Jarvik, Gail P The Annals of thoracic surgery 1987 Jan;98(1):104-10; discussion 110-1
  • Evidence against linkage of Von Recklinghausen neurofibromatosis and chromosome 19 markers
    Huson S.M., Meredith A.L., Sarfarazi M., Shaw D.J., Brook D., Compston D.A.S., Harper P.S. Neurofibromatosis; Annals of the New York Academy of Sciences 1986 Jan;486: 349-353
  • Gene mapping and myotonic dystrophy
    Harper P.S., Shaw D., Meredith L., Sarfarazi M., Brook D., Huson S. Medical Genetics: Past, Present, Future 1985 Jan;Prog. Clin. Biol. Res. pp 61-76
  • X chromosome-specific polymorphisms in Duchenne muscular dystrophy
    Harper P.S., Murray J.M., Davies K.E., Meredith L., O'Brien T., Sarfarazi M., Williamson R. Neuromuscular Diseases 1984 Jan;pp. 29-31

Conference Papers

  • Genetic Screening of LOXL1 Polymorphisms in Exfoliation Syndrome (XFS) Suspects (XFSS). Association for Research in Vision and Ophthalmology (ARVO) Annual Meeting; Fort Lauderdale, Florida. Inves. Ophthal. & Vis. Sci
    Pillai, C., Aalam, W., Sullivan T., Liebmann J., Sharafieh R., Sarfarazi M., Ritch R 2012 Jan;E-Abstract 1536
  • Screening of the Serine Protease PRSS56 in Families with Microphthalmia and Angle Closure Glaucoma. Association for Research in Vision and Ophthalmology (ARVO) Annual Meeting; Fort Lauderdale, Florida. Inves. Ophthal. & Vis. Sci
    Sharafieh R., Sarfarazi M 2012 Jan;E-Abstract 1535
  • Association Study of American and British Normal-Tension Glaucoma Subjects with SRBD1 and ELOVL5 Gene Polymorphisms. Association for Research in Vision and Ophthalmology (ARVO) Annual Meeting; Fort Lauderdale, Florida. Inves. Ophthal. & Vis. Sci
    Sharafieh R., Ritch R., Liebmann J.M., Child A.H., Sarfarazi M 2011 Jan;E-Abstract 2415
  • Association of Primary Open Angle Glaucoma (POAG) with SNP Markers on 2p16 Region. American Society of Human Genetics (ASHG) Annual Meeting; Washington DC, Nov. 2-6, 2010. Am. J. Hum. Genet. (Supplement)
    Sharafieh R. Child A., Sarfarazi M 2010 Jan;E-Abstract 2190
  • Impact of LTBP2 Gene variations on Primary Congenital Glaucoma. Association for Research in Vision and Ophthalmology (ARVO) Annual Meeting; Florida. Inves. Ophthal. & Vis. Sci
    Sharafieh R. Child A., Sarfarazi M 2010 Jan;E-Abstract 2183
  • Lysyl Oxidase-like 1 Polymorphisms in Children of Patients with Exfoliation Syndrome (XFS). Association for Research in Vision and Ophthalmology (ARVO) Annual Meeting; Fort Lauderdale, Florida. Inves. Ophthal. & Vis. Sci
    Kim E., Sharafieh R., Sarfarazi M., De Moraes GCV, Sbeity Z., Liebmann J.M., Ritch R 2010 Jan;E-Abstract 2178
  • Analysis of LOXL1 Polymorphisms in Age-Related Sensorineural Hearing Loss. Association for Research in Vision and Ophthalmology (ARVO)Annual Meeting; Florida. Inves. Ophthal. & Vis. Sci
    Kim A.J., Aragon-Martin J., Ritch R., Liebmann J.M., Child A., Sarfarazi M 2009 Jan;E-Abstract 887
  • Assessment of co-chaperine STI1 as a co-modifier of the WDR36 gene in Open-angle Glaucoma. Association for Research in Vision and Ophthalmology (ARVO) Annual Meeting; Florida. Inves. Ophthal. & Vis. Sci
    Raymond V., Dubois S., Footz T., Sarfarazi M., Walter M.A 2009 Jan;E-Abstract 895
  • Targeted Gene Association Studies of Primary Open Angle Glaucoma at the GLC1B Locus. Association for Research in Vision and Ophthalmology (ARVO) Annual Meeting; Florida. Inves. Ophthal. & Vis. Sci
    Sharafieh R. Child A., Sarfarazi M 2009 Jan;E-Abstract 893
  • The hunt for the causative gene in the GLC1B Locus. American Society of Human Genetics (ASHG) 59th Annual Meeting; Hawaii. Am. J. Hum. Genet. (Supplement)
    Sharafieh R. Child A., Sarfarazi M 2009 Jan;E-Abstract 1955
  • Association studies of LOXL1 gene polymorphisms in both high- and normal-pressure Primary Open Angle Glaucoma. American Society of Human Genetics (ASHG) Annual Meeting; Philadelphia, PA. Am. J. Hum. Genet. (Supplement)
    Rezaie T., Aragon-Martin J.A., Schmidt V., Beveridge L., Ritch R., Liebmann J., Ilitchev E., Child A., Sarfarazi M 2008 Jan;E-Abstract 1466
  • Co-localization of Optineurin with its Interacting Proteins of Huntingtin, mGluR1a, FOS, RAB8, and Myosin-VI in Ocular Tissues of Rhesus Monkey. ARVO Annual Meeting; Florida. Inves. Ophthal. & Vis. Sci
    Rezaie T., Sarfarazi M 2008 Jan;E-Abstract 3691
  • A Microdeletion Involving TNIK Alters The Phenotype Of Dup(3q) Syndrome. J. Bone & Mineral Research (Suppllement 1), 22: S350; (September, 2007)
    Akunowicz J.D., Sciaudone M.P., Reveles X., Deshpande A.M., Davis T., Aragon-Martin J.A., Sarfarazi M., Leach R.J. Hansen M.F 2007 Jan;E-Abstract T470
  • Candidate Gene Screening of Primary Open Angle Glaucoma (POAG) at the GLC1C Locus. Association for Research in Vision and Ophthalmology (ARVO) Annual Meeting; Florida. Inves. Ophthal. & Vis. Sci. Paper Presentation
    Aragon-Martin J., Child A., Brice G., Sarfarazi M 2007 Jan;E-Abstract 4036
  • Candidate Gene Selection and Mutation Screening of Adult-Onset Primary Open Angle Glaucoma (POAG) at the GLC1B, GLC1C and GLC1H Loci. American Society of Human Genetics (ASHG) Annual Meeting; San Diego, CA. Am. J. Hum. Genet. (Supplement)
    Sarfarazi M., Aragon-Martin J., Sharafieh R., Rezaie T., Child A 2007 Jan;E-Abstract 982
  • How many genes cause glaucoma? Annual Meeting of the British - Ireland Glaucoma Society; Cardiff, UK, December 7, 2007
    Child A., Rezaie T., Vernon S., Sarfarazi M. and the UK Glaucoma Consortium 2007 Jan;
  • Identification of Interacting Proteins for Glaucoma-Related Optineurin by Yeast Two Hybrid System. American Society of Human Genetics (ASHG) Annual Meeting; San Diego, CA. Am. J. Hum. Genet. (Supplement)
    Rezaie T., Huang L., Walter M., Sarfarazi M 2007 Jan;E-Abstract 1237
  • Identification of Optineurin Interacting Proteins through Screening of a specific Human Trabecular Meshwork Yeast Two Hybrid cDNA Library. Association for Research in Vision and Ophthalmology (ARVO) Annual Meeting; Florida. Inves. Ophthal. & Vis. Sci
    Rezaie T., Huang L., Walter M., Sarfarazi M 2007 Jan;E-Abstract 5611
  • Is WDR36 a Modifying Gene for Myocilin? Association for Research in Vision and Ophthalmology (ARVO) Annual Meeting; Florida. Inves. Ophthal. & Vis. Sci
    Monemi S., Child A., Sarfarazi M 2007 Jan;E-Abstract 5592
  • Utilization of Genomic Convergence and Proteomic Streamlining Strategies for Selection and Mutation Screening of POAG Candidate Genes at the GLC1B Locus. ARVO Annual Meeting; Florida. Inves. Ophthal. & Vis. Sci
    Sharafieh R., Child A., Sarfarazi M 2007 Jan;E-Abstract 5613
  • Expression of Optineurin protein in Human Normal and Glaucomatous Eyes. Association for Research in Vision and Ophthalmology (ARVO) Annual Meeting; Florida. Inves. Ophthal. & Vis. Sci
    Rezaie T., Wax M.B., Edward D.P., Sarfarazi M 2006 Jan;E-Abstract 1260
  • Localization of Optineurin in Human Normal and Glaucomatous Eyes. 11th. International Congress of Human Genetics, Brisbane, Australia, August 6-10, 2006
    Rezaie T., Wax M.B., Edward D.P., Sarfarazi M 2006 Jan;E-Abstract 1153
  • Molecular and Functional Analyses of CYP1B1, Optineurin and WDR36 in Glaucoma. 11th. International Congress of Human Genetics, Brisbane, Australia, August 6-10, 2006
    Sarfarazi M., Schenkman J.B., Rezaie T., Monemi S., Child A.H 2006 Jan;E-Abstract 1152
  • Molecular characterization of WDR36: A newly identified Adult-Onset Primary Open Angle Glaucoma (POAG) Gene on 5q22.1. Association for Research in Vision and Ophthalmology (ARVO) Annual Meeting; Florida. Inves. Ophthal. & Vis. Sci
    Sarfarazi M., Monemi S., Child A.H 2006 Jan;E-Abstract 195
  • The WDR36 gene on chromosome 5q22.1 is not responsible for POAG in a large family that maps to this region. Association for Research in Vision and Ophthalmology (ARVO) Annual Meeting; Florida. Inves. Ophthal. & Vis. Sci
    Morris E.M., Kramer P.L., Samples J.R., Monemi S., Sykes R., Sarfarazi M., Wirtz M.K 2006 Jan;E-Abstract 183
  • Genome Scan Analysis of 139 Families with Adult-Onset Primary Open Angle Glaucoma (POAG). Association for Research in Vision and Ophthalmology (ARVO) Annual Meeting; Florida. Inves. Ophthal. & Vis. Sci. 46
    Sarfarazi M., DaSilva A., Welsh L., Aragon-Martin J., Wilson L., Monemi S., Rezaie T., Child A 2005 Jan;E-Abstract 47
  • Genome Scan of Maltese Families with Pseudoexfoliation Syndrome (PEX). ARVO Annual Meeting; Florida. Inves. Ophthal. & Vis. Sci. 46
    Aragon-Martin J.A., Child A., Mercieca F., Cuschieri A., Rapa J., Rezaie T., Sarfarazi M 2005 Jan;E-Abstract 39
  • Large-Scale Sequence Analysis of Optineurin in Familial and Sporadic Cases with Primary Open-Angle Glaucoma. Association for Research in Vision and Ophthalmology (ARVO) Annual Meeting; Florida. Inves. Ophthal. & Vis. Sci. 46
    Rezaie T., Child A., Popinchalk S., Krupin T., Ritch R., Liebmann J., Ilitchev E., Crick R., Sarfarazi M 2005 Jan;E-Abstract 1306
  • Mutation Screening of WDR36 and Two of Its Binding Partners, MAX and E2F6, in Families with Adult-Onset Primary Open Angle Glaucoma (POAG). American Society of Human Genetics (ASHG) Annual Meeting; Salt Late City, Utah. Am. J. Hum. Genet. (Supplement)
    Monemi S., Spaeth G., Ilitchev E., Liebmann J., Ritch R., Héon E., Crick R.P., Child A., Sarfarazi M 2005 Jan;E-Abstract 1329
  • Ocular expression profiling and co-localization of Optineurin with its interacting proteins of RAB8, Myosin VI, and FOS in Rhesus Monkey. American Society of Human Genetics (ASHG) Annual Meeting; Salt Late City, Utah. Am. J. Hum. Genet. (Supplement)
    Rezaie T., Sarfarazi M 2005 Jan;E-Abstract 1130
  • Comparative Analysis of Orthologous CYP1B1 Endobiotic Metabolism. Association for Research in Vision and Ophthalmology (ARVO) Annual Meeting; Florida. Inves. Ophthal. & Vis. Sci 45
    Choudhary D., Jansson I., Schenkman J., Sarfarazi M 2004 Jan;E-Abstract 2084
  • Confined Ocular Expression of Optineurin (Optn) During Mouse Eye Development by Whole-Mount In Situ Hybridization. Association for Research in Vision and Ophthalmology (ARVO) Annual Meeting; Florida. Inves. Ophthal. & Vis. Sci. 45
    Rezaie T., Stoilov I., Sarfarazi M 2004 Jan;E-Abstract 4446
  • FOXC2 Mutations are not associated with the Meige Disease (Lymphedema without Distichiasis). American Society of Human Genetics (ASHG) Annual Meeting. Toronto. Am. J. Hum. Genet. (Supplement)
    Rezaie T., Ghoroghchian R., Bell R., Jeffery S., Brice G., Burnand K., Beninson J., Mortimore P., Child A., Sarfarazi M 2004 Jan;E-Abstract 2582
  • Inheritance of Pseudoexfoliative Glaucoma (PEX) on the Island of Gozo. Association for Research in Vision and Ophthalmology (ARVO) Annual Meeting; Florida. Inves. Ophthal. & Vis. Sci. 45
    Child A., Mercieca F., Cuschieri Al. Rapa J., Welsh L., Sarfarazi M 2004 Jan;E-Abstract 4399
  • Mapping of a New Adult-Onset Primary Open Angle Glaucoma (POAG) Locus (GLC1G) to Chromosome 5q and Mutation Screening of Candidate Genes. American Society of Human Genetics (ASHG) Annual Meeting. Toronto. Am. J. Hum. Genet. (Supplement)
    Monemi S., Spaeth G., Child A., DaSilva A., Popinchalk S., Coppin J., Argon-Martin J., Crick R.P., Sarfarazi M 2004 Jan;E-Abstract 1591
  • Mutation Screening of 130 Candidate Genes Reveals a Complex Molecular Inheritance for Adult-Onset Primary Open Angle Glaucoma (POAG). American Society of Human Genetics (ASHG) Annual Meeting. Toronto. Am. J. Hum. Genet. (Supplement)
    Sarfarazi M., Child A., Welsh L., Suriyapperuma S., Monemi S., Rezaie T 2004 Jan;E-Abstract 2284
  • Phenotypic features of glaucoma patients with the Optineurin E50K mutation. Association for Research in Vision and Ophthalmology (ARVO) Annual Meeting; Florida. Inves. Ophthal. & Vis. Sci. 45
    Aung T., Rezaie T., Okada K., Viswanathan A.C., Child A.H., Garway-Heath D.F., Bhattacharya S.S., Lehmann O.J., Sarfarazi M., Hitchings R.A 2004 Jan;E-Abstract 4626
  • Candidate Gene Screening of Adult-Onset Primary Glaucoma (POAG) Linked to 2p14-p16. ARVO Annual Meeting; Florida. Inves. Ophthal. & Vis. Sci.44
    Suriyapperuma S.P., Child A., Papacs L., Crick R., Sarfarazi M 2003 Jan;E-Abstract 1132
  • Defining the Role of Mutations in Optineurin in Early Onset Open Angle Glaucoma. ARVO Annual Meeting; Florida. Inves. Ophthal. & Vis. Sci. 44
    Willoughby C.E., Chan L., Herd S., Buys Y., Trope G., Levin A., Noordeh N., Jani P., Sarfarazi M., Heon E 2003 Jan;E-Abstract 1127
  • Expression of Optineurin (OPTN), an Adult Onset Primary Open Angle Glaucoma (POAG) Gene, During Early Stages of Mouse Eye Development. Am. J. Hum. Genet. (Supplement). 73(5)
    Stoilov I., Rezaie T., Sarfarazi M 2003 Jan;E-Abstract 909, Page 325
  • Genome Scan of Two Large Families with Adult-Onset Primary Open Angle Glaucoma (POAG) Suggests a Probable Locus on 5q33-q35. Association for Research in Vision and Ophthalmology (ARVO) Annual Meeting; Florida. Inves. Ophthal. & Vis. Sci. 44
    Monemi S., Child A., Lehmann O., Spaeth G., Crick R., Sarfarazi M 2003 Jan;E-Abstract 1128
  • Genome Wide Scan of 5 Families with Adult Onset Primary Open Angle Glaucoma. ARVO Annual Meeting; Florida. Inves. Ophthal. & Vis. Sci. 44
    Welsh L.A., Child A., Crick R.P., Heon E., Sarfarazi M 2003 Jan;E-Abstract 1121
  • Mutation Studies and Ocular Localization of Optineurin Protein in Primary Open Angle Glaucoma (POAG). American Society of Human Genetics (ASHG) Annual Meeting. Los Angeles. Am. J. Hum. Genet. (Supplement). 73(5)
    Rezaie T., Child A., Ritch R., Krupin T., Liebmann J., Ilitchev E., Sarfarazi M 2003 Jan;E-Abstract 1075, Page 353
  • Ocular localization of Optineurin protein in Human, Monkey and Mouse eyes. Association for Research in Vision and Ophthalmology (ARVO)Annual Meeting. Florida. Inves. Ophthal. & Vis. Sci. 44
    Rezaie T., Child A., Sarfarazi M 2003 Jan;E-Abstract 3226
  • Optineurin Mutations in Patients with Low Pressure Glaucoma (LPG): No Evidence for E50K Founder Effect. ARVO Annual Meeting; Florida. Inves. Ophthal. & Vis. Sci.44
    Sarfarazi M., Rezaie T., Child A., Thomas J., Hitchings R., Héon E., Krupin T., Ritch R., Liebmann J., Ilitchev E., Crick R 2003 Jan;E-Abstract 2148
  • Outflow Pathway Anomalies Associated with Multiple CYP1B1 Mutations in Congenital Glaucoma. ARVO Annual Meeting; Florida. Inves. Ophthal. & Vis. Sci. 44
    Hollander D.A., Stoilov I., Sarfarazi M., Alvarado J.A 2003 Jan;E-Abstract 1117
  • Provisional Mapping of an Adult-Onset Primary Open Angle Glaucoma (POAG) Locus to 5q33-q35. Am. J. Hum. Genet. (Supplement). 73(5)
    Monemi S., Child A., DaSilva A., Lehmann O., Spaeth G., Crick R., Sarfarazi M 2003 Jan;E-Abstract 2139, Page 534
  • The Mouse CYP1 Genes Appear at Different Temporal Points in Development Indicating That Cyp1a1 and Cyp1a2 Can Not Compensate for the Deficiency of the Congenital Glaucoma Gene Cyp1b1. ARVO Annual Meeting; Florida. Inves. Ophthal. & Vis. Sci. 44
    Stoilov I.R., Choudhary D., Jansson I., Schenkman J.B., Sarfarazi M 2003 Jan;E-Abstract 1123
  • Adult-Onset Primary Open Angle Glaucoma (POAG) Caused by Mutations in Optineurin: A TNF-alpha-inducible protein that interacts with huntingtin, RAB8, TFIIIA and E3-14.7K. Am. J. Hum. Genet. (Supplement). 71(4)
    Rezaie T., Child A., Hitchings R., Brice G., Miller L., Coca-Prados M., Héon E., Krupin T., Ritch R., Kreutzer D., Pitts Crick R., Sarfarazi M 2002 Jan;E-Abstract 2167 Page A539
  • Comparative expression profiling of the mouse Cytochrome P450 gene family. Am. J. Hum. Genet. (Supplement). 71(4)
    Stoilov I.R., Choudhary D., Jansson I., Schenkman J.B., Sarfarazi M 2002 Jan;E-Abstract 416 Page A242
  • Identification of an OPA1 truncating mutation in a family with Optic Atrophy. ARVO Annual Meeting; Florida. Inves. Ophthal. & Vis. Sci. 43
    Suriyapperuma S., Child A., Brice G., Desai S.P., Sarfarazi M 2002 Jan;E-Abstract 2393
  • The third genetic locus (GLC3C) for Primary Congenital Glaucoma (PCG) maps to chromosome 14q24.3. Am. J. Hum. Genet. (Supplement). 71(4)
    Sarfarazi M., Stoilov I.R 2002 Jan;E-Abstract 1670 Page A455
  • A Potential locus for Adult-Onset Primary Open Angle Glaucoma (POAG) maps to 2p14-p16. Am. J. Hum. Genet. (Supplement). 69(4)
    Suriyapperuma S., Child A., Desai T., Brice G., Pitts Crick R. Sarfarazi M 2001 Jan;E-Abstract 1937 Page A512
  • Identification of a novel GUCY2D mutation in an Iranian family with Leber Congenital Amaurosis. Am. J. Hum. Genet. (Supplement). 69(4)
    Rezaie T., Karimi-Nejad M.H., Meshkat M., Sohbati S., Karimi-Nejad R., Najmabadi H. Sarfarazi M 2001 Jan;E-Abstract 2534 Page A612
  • Linkage analysis of a large Amish pedigree with glaucoma. Inves. Ophthal. & Vis. Sci. (ARVO Annual Meeting; Florida). 42(4)
    Gallagher S.P., Lehmann O.J., Leonardo D., Ebenezer N., Pcaka L., Child A., Hitchings R.A., Sarfarazi M. Bhattacharya S.S 2001 Jan;Abstract # 3020 Page S563
  • Linkage relationship of 60 Primary Open Angle Glaucoma families (POAG) to the GLC1E locus on 10p15-p14. Fine mapping and mutation screening of candidate genes. Inves. Ophthal. & Vis. Sci. (ARVO Annual Meeting; Florida). 42(4)
    Rezaie T., Child A., Brice G., Desai T., Crick R.P., Sarfarazi M 2001 Jan;Abstract # 119 Page S21
  • Molecular basis for reduced penetrance in primary congenital glaucoma. Am. J. Hum. Genet. (Supplement). 69(4)
    Stoilov I., Jansson I., Schenkman J., Sarfarazi M 2001 Jan;E-Abstract 2786 Page A654
  • Mutation screening of the CYP1B1 gene and phenotype-genotype correlation in Primary Congenital Glaucoma cases from Brazil. Inves. Ophthal. & Vis. Sci. (ARVO Annual Meeting; Florida). 42(4)
    Stoilov I.R., Costa V.P., Vasconcellos J.P.C., Mello M.B., Betinjane A.J., Carani J.C.E., Oltrogge E.V., Sarfarazi M 2001 Jan;Abstract # 2848 Page S530
  • Probable linkage of Adult-Onset Primary Open Angle Glaucoma to the 2p14-p16 region. Inves. Ophthal. & Vis. Sci. (ARVO Annual Meeting; Florida). 42(4)
    Suriyapperuma S., Child A., Desai T., Brice G., Pitts Crick R. Sarfarazi M 2001 Jan;Abstract # 2849 Page S530
  • Evaluation of linkage to the GLC1E locus in 46 Glaucoma families and mutation screening of GATA3, IL2RA, IL15RA and NAPOR in a linked family. Am. J. Hum. Genet. (Supplement). 67(4)
    Rezaie T., Child A., Brice G., Desai T., Walls G. Crick R.P., Sarfarazi M 2000 Jan;E-Abstract 1739 Page A314
  • Expression and functional characterization of wild type and mutant forms of CYP1B1. Inves. Ophthal. & Vis. Sci. (ARVO Annual Meeting; Florida). 41(4)
    Stoilov I., Jansson I., Schenkman J., Sarfarazi M 2000 Jan;Abstract # 4375 Page S824
  • Functional analysis of the primary congenital glaucoma (PCG) gene - CYP1B1. Am. J. Hum. Genet. (Supplement). 67(4)
    Stoilov I., Jansson I., Schenkman J., Sarfarazi M 2000 Jan;E-Abstract 966 Page A182
  • Genetic basis for increased Glaucoma prevalence in Afro-Caribbean families. Inves. Ophthal. & Vis. Sci. (ARVO Annual Meeting; Florida). 41(4)
    Child A., Walls G., Brice G., Crick R.P., Sarfarazi M 2000 Jan;Abstract # 4371 Page S823
  • Identification of a severely affected homozygote TIGR/MYOC mutation in a large family with Juvenile-Onset Primary Open Angle Glaucoma. Inves. Ophthal. & Vis. Sci. (ARVO Annual Meeting; Florida). 41(4)
    Sarfarazi M., Chaterji R., Kocak-Midillioglu I., Kocak-Altintas A 2000 Jan;Abstract # 4362 Page S822
  • Report of 23 cases of Leber Congenital Amaurosis in Lore Tribe of Sirjan, Kerman, Iran. Am. J. Hum. Genet. (Supplement). 67(4)
    Karimi-Nejad M.H., Meshkat M.R., Sohbati S., Najmabadi H., Karimi-Nejad R., Saryazdi S., Sarfarazi M 2000 Jan;E-Abstract 659 Page A129
  • Searching for identification of mutations involved in GLC1B, GLC1D and GLC1E linked Glaucoma loci. Inves. Ophthal. & Vis. Sci. (ARVO Annual Meeting; Florida). 41(4)
    Desai T., Child A., Rezaie T., Farahani R., Brice G., Niazi F., Suriyapperruma S., Sarfarazi M 2000 Jan;Abstract # 2806 Page S526
  • The CHX10 homeobox gene in eye development: human mutations, downstream targets, and mouse and fly homologues (Proceedings of the Tenth Winternational Symposium of the Canadian Society of Biochemistry and Molecular & Cellular Biology
    McInnes R.R., Horsford D.J. Chow R., Ploder L., Percin E.F., Yu J.J., Erclik T., Chow R.L., Traboulsi E., Sarfarazi M., van der Kooy D., Lipshitz H 2000 Jan;Biochemistry & Cell Biology, 78:(5), 647
  • A new genome wide screening of 281 affected subjects in 84 families with adult-onset primary open angle glaucoma (POAG). Am. J. Hum. Genet. (Supplement). 65(4): E-Abstract 1240 Page A224
    Desai T., Van Hoewyk D., Stoilov I., Child A., Brice G., Sarfarazi M 1999 Jan;
  • A new locus for autosomal recessive congenital microphthalmia maps to 14q24.3 and caused by a homozygous mutation in the CHX10 gene. Am. J. Hum. Genet. (Supplement). 65(4)
    Percin E.F., Arici K., Horsford D.J., Kocak-Altintas A., Akarssu A.N., McInnes R.R., Sarfarazi M 1999 Jan;E-Abstract 93 Page A19
  • A novel hereditary tumor syndrome is defined by the concurrence of papillary thyroid carcinoma and papillary renal neoplasms. 81st Annual Meeting of the Endocrine Society
    Tendler B., Sarfarazi M., Forouhar F., Whalen G., Shichman S., Malchoff C.D., Malchoff D.M 1999 Jan;
  • A physical map of the GLC1B critical region and mutation screening of candidate genes. Inves. Ophthal. & Vis. Sci. (ARVO Annual Meeting; Florida). 40(4): Abstract # 2691 Page S510
    Stoilova D., Child A., Brice G., Crick R.P., Sarfarazi M 1999 Jan;
  • Cloning and genomic structure of OTX2, a candidate gene for congenital microphthalmia. Am. J. Hum. Genet. (Supplement). 65(4)
    Sarfarazi M., Stoilov I., Percin E.F 1999 Jan;E-Abstract 2142 Page A379
  • Construction of a physical map of 2cen-q13 critical region containing the primary open angle glaucoma (GLC1B) locus and mutation screening of nine candidate genes. Am. J. Hum. Genet. (Supplement). 65(4)
    Stoilova D., Child A., Brice G., Rocchi M., Sarfarazi M 1999 Jan;E-Abstract 2379 Page A420
  • Genetic screening possibilities in glaucoma. Inves. Ophthal. & Vis. Sci. (ARVO Annual Meeting; Florida). 40(4): Abstract # 2697 Page S511
    Child A., Brice G., Khaw P., Hitchings R., Reynolds P., Pitts Crick R. Sarfarazi M 1999 Jan;
  • Human Cytochrome P4501B1: Expression in E. Coli and report of 21 new mutations in subjects with Primary Congenital Glaucoma. Am. J. Hum. Genet. (Supplement). 65(4): E-Abstract 2800 Page A492
    Stoilov I., Jansson I., Schenkman J., Sarfarazi M 1999 Jan;
  • Identification of 11 new CYP1B1 mutations in primary congenital glaucoma. Inves. Ophthal. & Vis. Sci. (ARVO Annual Meeting; Florida). 40(4): Abstract # 409 Page S77
    Stoilov I., Niazi F., Child A., Brice G., Khaw P.T., Sarfarazi M. and The Congenital Glaucoma Collaborative Group 1999 Jan;
  • Mapping a locus for Lymphedema-Distichiasis to chromosome 16q24.3. Am. J. Hum. Genet. (Supplement). 65(4): E-Abstract 522 Page A100
    Jeffery S., Mangion J., Rahman N., Mansour S., Brice G., Rosbotham J., Child A.H., Evans A.L., Mortimor P., Barfoot R., Sigurdsson A., Edkins S., Sarfarazi M., Burnand K., Nunan T.O., Stratton M.R., Murday V.A 1999 Jan;
  • Mapping of autosomal recessive congenital microphthalmia and exclusion of linkage to 14q32. Inves. Ophthal. & Vis. Sci. (ARVO Annual Meeting; Florida). 40(4): Abstract # 3160 Page S602
    Percin E.F., Kocak A., Arici K., Desai T., Akarssu A.N., Sarfarazi M 1999 Jan;
  • Mapping of primary congenital Lymphedema (Milroy’s disease) to the 5q35.3 region. British Society for Paediatric Dermatology Annual Meeting. Brit. J. Dermatology 141 (Suppl. 55): 100
    Rosbotham J.L., Evans A.L., Brice G., Sotirova V., Mortimer P.S., Beninson J., Burnand K.G., Nunan T.O., Child A.H., Sarfarazi M 1999 Jan;
  • Molecular genetics of families with pseudoexfoliation syndrome (PEX) suggests two putative locations on 2p14-2Cen and 2q35-q36 region. Inves. Ophthal. & Vis. Sci. (ARVO Annual Meeting; Florida). 40(4): Abstract # 2704 Page S512
    Sotirova V., Irkec M., Percin E.F., Bladow K.M., Damji K.F., Sarfarazi M. and the PEX Molecular Study Group 1999 Jan;
  • Multiple synostosis type 2 (SYNS2) maps to 20q11.2 and caused by a missense mutation in the growth differentiation factor 5 (GDF5). Am. J. Hum. Genet. (Supplement). 65(4)
    Akarsu A.N., Rezaie T., Demirtas M., Farhud D.D., Sarfarazi M 1999 Jan;E-Abstract 1569 Page A281
  • Screening of candidate genes for Primary Congenital Lymphedema on 5q35.3. Am. J. Hum. Genet. (Supplement). 65(4)
    Evans A.L., Brice G., Sotirova V., Mortimer P., Beninson J., Burnand K., Rosbotham J., Child A, Sarfarazi M 1999 Jan;E-Abstract 1382 Page A248
  • Screening of candidate genes for primary congenital lymphedema. J. Med. Genet. 36; Supplement 1. Abstract # 14.078 Page S90
    Evans, Alison L; Brice, G; Child, AH; Jeffery, S; Sarfarazi, M 1999 Jan;
  • The role of CHX10 in eye development: human CHX10 mutations in microphthalmia and identification of Mitf as a Chx10 downstream target. Am. J. Hum. Genet. (Supplement). 65(4): E-Abstract 119 Page A24
    Horsford D.J., Ploder L., Percin E.F., Yu J., Duncan A., Cox D., Traboulsi E., Sarfarazi M., McInnes R.R 1999 Jan;
  • Ascertainment and molecular genetic study of families with Pseudoexfoliation Syndrome. Inves. Ophthal. & Vis. Sci. (ARVO Annual Meeting; Florida). 39(4): Abstract # 139 Page S32
    Sotirova V., Irkec M., Caudill M., Orhan M., Akarsu A.N., Sarfarazi M 1998 Jan;
  • Ascertainment of large Strabismus families and mapping of the first locus to the short arm of X chromosome. Inves. Ophthal. & Vis. Sci. (ARVO Annual Meeting; Florida). 39(4): Abstract # 4179 Page S908
    Akarsu A.N., Sener E.C., Kececi A., Ozbas F., Sotirova V., Sarfarazi M., Ozguc M 1998 Jan;
  • Chromosomal localization of two new loci for adult-onset primary open angle glaucoma (POAG). Am. J. Hum. Genet. (Supplement). 63(4): Abstract # 1774 Page A307
    Sarfarazi M., Child A., Traboulsi E.I., Stoilova D., Brice G., Desai T., Alozie I., Nguyen R., Raja S., Poinoosawmy D., Crick R.P 1998 Jan;
  • Familial papiliary thyroid carcinoma is genetically distinct from familial adenomatous polyposis coli. Endocrinology Annual meeting
    Malchoff D.M., Sarfarazi M., Tendler B., Forouhar F., Whalen G., Malchoff C.D 1998 Jan;
  • Identification of a novel mutation in the paired domain of PAX3 in an Iranian family with Waardenburg syndrome type I. Am. J. Hum. Genet. (Supplement). 63(4): Abstract # 2246 Page A387
    Sotirova V.N., Rezaie-Jami T., Khoshsorour M.R., Sarfarazi M 1998 Jan;
  • Invader squared FRET analysis for the direct detection of human genomic alterations. Am. J. Hum. Genet. (Supplement). 63(4): Abstract # 1377 Page A239
    Prudent J.R., Marshall D.J., Beaty E.L., Hall J., Law S., Eis P., deArruda M., Nguyen T.D., Sarfarazi M., Neri B 1998 Jan;
  • Mapping of two new loci for Adult-Onset Primary Open Angle Glaucoma to the 8q23 (GLC1D) and 10p14-p15 (GLC1E) regions in one North American and British family. Inves. Ophthal. & Vis. Sci. (ARVO Annual Meeting; Florida). 39(4): Abstract # 3159 Page S688
    Sarfarazi M., Child A., Traboulsi E.I., Stoilova D., Brice G., Desai T., Trifan O.C., Alozie I., Nguyen R., Raja S., Poinoosawmy D., Crick R.P 1998 Jan;
  • Molecular Genetics of Adult-Onset Primary Open Angle Glaucoma (POAG). 28th. International Congress of Ophthalmology. June 21-26, 1998, Amsterdam, The Netherlands
    Sarfarazi M., Child A., Traboulsi E.I., Stoilova D., Brice G., Desai T., Trifan O.C., Alozie I., Nguyen R., Raja S., Poinoosawmy D., Crick R.P 1998 Jan;
  • Mutation screening of the CYP1B1 gene provided evidence for homogeneity of Primary Congenital Glaucoma in the Slovak gypsies (Roms). Inves. Ophthal. & Vis. Sci. (ARVO Annual Meeting; Florida). 39(4): Abstract # 3155 Page S687
    Ferak V., Plasilova M., Stoilov I., Sarfarazi M., Kadasi L., Ferakova E., Polakova H 1998 Jan;
  • Mutation screening of the forkhead transcription factor FKHL7 in families with Axenfeld-Rieger Anomaly. Am. J. Hum. Genet. (Supplement). 63(4): Abstract # 545 Page A99
    Caudill M., Barsoum-Homsy M., Chevrette L., Kocak I., Or M., Alper O., Luleci G., Akarsu A.N., Sarfarazi M 1998 Jan;
  • Mutational homogeneity of Primary Congenital Glaucoma in Slovak Roms (Gypsies). 30th Annaul meeting of the European Society of Human Genetics. May 10-13, 1998; Lisbon
    Plasilova M., Stoilov I., Sarfarazi M., Gerinec A., Kadasi L., Ferak V 1998 Jan;
  • Phenotypic spectrum of autosomal recessive congenital microphthalmia (AR-CMIC) and evidence for genetic heterogeneity. Am. J. Hum. Genet. (Supplement). 63(4): Abstract # 650 Page A117
    Percin F., Desai T., Kicak A., Arici K., Kicak I., Akarsu A.N., Sarfarazi M 1998 Jan;
  • Primary Congenital Glaucoma (PCG) on chromosome 2p21 results from mutations in either the Hinge Region or the conserved core structures of the Cytochrome P4501B1 (CYP1B1) molecule. 28th. International Congress of Ophthalmology. June 21-26, 1998, Amsterdam, The Netherlands
    Stoilov I., Akarsu A.N., Sarfarazi M 1998 Jan;
  • Screening of the TIGR gene in 140 Primary Open Angle Glaucoma probands indentified six mutations in ten families. Inves. Ophthal. & Vis. Sci. (ARVO Annual Meeting; Florida). 39(4): Abstract # 3157 Page S688
    Stoilova D., Child A., Desai T., Brice G., Fleck B.W., Barosoum-Homsy M., Crick R.P., Sarfarazi M 1998 Jan;
  • Sequence analysis and homology modeling of Cytochrome P4501B1 (CYP1B1) suggest that Primary Congenital Glaucoma is caused by mutations affecting the conserved core structures shared by all P450 molecules. Inves. Ophthal. & Vis. Sci. (ARVO Annual Meeting; Florida). 39(4): Abstract # 43 Page S10
    Sarfarazi M., Stoilov I., Akarsu A.N 1998 Jan;
  • UK National database for Glaucoma families. 15th International Society of Geographical and Epidemiological Ophthalmology (ISGEO). June 26-27, 1998, Amsterdam, The Netherlands
    Child A., Brice G., Hitchings R., Khaw P., Sarfarazi M., Crick R.P 1998 Jan;
  • The first locus for Adult-Onset Primary Open Angle Glaucoma (GLC1B) maps to the 2Cen-q13 Region. Inves. Ophthal. & Vis. Sci. (ARVO Annual Meeting; Florida). 38(4): Abstract # 4338 Page S931
    Stoilova D., Child A., Trifan O.C., Crick R.P., Coakes R.L., Sarfarazi M 1997 Jan;
  • Identification of Cytochrome P4501B1 as the gene mutated in primary congenital glaucoma families linked to the GLC3A locus on 2p21. Am. J. Hum. Genet. (Supplement). 61(4): Abstract # 100 Page A21
    Stoilov I., Akarsu A.N., Sarfarazi M 1997 Jan;
  • Identification of new TIGR mutations in Juvenile-Onset Primary Open Angle Glaucoma (JOAG) families from different populations. Am. J. Hum. Genet. (Supplement). 61(4): Abstract # 2411 Page A412
    Stoilova D., Child A., Fleck B.W., Barsoum-Homsy M., Ozdemir N., Brice G., Crick R.P., Sarfarazi M 1997 Jan;
  • Linkage and mutation studies of adult-onset primary open angle glaucoma (POAG) with TIGR and genes on 4 other chromosomes. Am. J. Hum. Genet. (Supplement). 61(4): Abstract # 2353 Page A402
    Sarfarazi M., Child A., Stoilova D., Brice G., Coakes R., Crick R.P 1997 Jan;
  • Mapping and mutation screening of two different loci for Primary Congenital Glaucoma (Buphthalmos). Inves. Ophthal. & Vis. Sci. (ARVO Annual Meeting; Florida). 38(4): Abstract # 2693 Page S578
    Sarfarazi M., Akarsu A.N., Stoilov I., Yilmaz E, Alozie I., Turacli M.E., Aktan S.G., Barsoum-Homsy M., Chevrette L 1997 Jan;
  • Primary congenital glaucoma results from different mutations in the structural core of Cytochrome P4501B1 (CYP1B1). 2nd. International symposium on experimental and clinical ocular pharmacology and pharmaceutics. Munich, Germany, September 11-14
    Stoilov I., Akarsu A.N., Sarfarazi M 1997 Jan;
  • A search for chromosomal location of the adult-onset primary open angle glaucoma (GLC1B)). Inves. Ophthal. & Vis. Sci. (ARVO Annual Meeting, Florida). 37(3): Abstract #2073 Page S456
    Stoilova D., Child A., Trifan O.C., Bradway D., Crick R.P., Sarfarazi M 1996 Jan;
  • Assignment of a new locus (GlC1B) for Adult-Onset Primary Open Angle Glaucoma to the 2Cen-q13 Region. Am. J. Hum. Genet. (Supplement). 59(3): Abstract # 1407A Page A244
    Stoilova D., Child A., Trifan O.C., Crick R.P., Coakes R.L., Sarfarazi M 1996 Jan;
  • Duplication of nine Polyalanines in the upstream exon of HOXD13 gene causes the Synpolydactyly phenotype. Am. J. Hum. Genet. (Supplement). 59(3): Abstract # 1410 Page A245
    Akarsu A.N., Stoilov I., Yilmaz E., Sayli B.S., Sarfarazi M 1996 Jan;
  • Fine mapping of Primary Congenital Glaucoma (Buphthalmos) on 2p21 and Mutation screening of candidate genes. Am. J. Hum. Genet. (Supplement). 59(3): Abstract # 1366 Page A237
    Stoilov I., Akarsu A.N., Yilmaz E., Turacli M.E., Aktan S.G., Barsoum-Homsy M., Chevrette L., Sayli B.S., Sarfarazi M 1996 Jan;
  • Fine mapping of the synpolydactyly locus on the 2q31 region. 2nd Chromosome 2 Workshop Meeting. Cytogenet. Cell Genet. 73: 272 (Abst. # 11)
    Akarsu A.N., Sayli B.S., Sarfarazi M 1996 Jan;
  • Genetic linkage of primary congenital glaucoma (Buphthalmos) to chromosome 2p21 and physical mapping of the candidate region. 2nd Chromosome 2 Workshop Meeting. Cytogenet. Cell Genet. 73: 272 (Abst. # 12)
    Stoilov I., Akarsu A.N., Hossain A., Turacli M.E., Aktan S.G., Barsoum-Homsy M., Chevrette L., Sarfarazi M 1996 Jan;
  • Linkage study of Turkish familial Mediterranean fever (FMF) to 16p13.3 and evidence for genetic heterogeneity. Am. J. Hum. Genet. (Supplement). 59(3): Abstract # 1327 Page A231
    Ozen S., Akarsu A.N., Saatci U., Bakkaloglu A., Sarfarazi M 1996 Jan;
  • Localization and Mutation screening of a new locus (GLC3B) for Primary Congenital Glaucoma (Buphthalmos) on 1p36. Am. J. Hum. Genet. (Supplement). 59(3): Abstract # 1404 Page A243
    Yilmaz E., Akarsu A.N., Stoilov I., Turacli M.E., Aktan S.G., Barsoum-Homsy M., Chevrette L., Sayli B.S., Sarfarazi M 1996 Jan;
  • Mapping a major locus for primary congenital glaucoma (Buphthalmos) to 2p21 and evidence for genetic heterogeneity. Inves. Ophthal. & Vis. Sci. (ARVO Annual Meeting; Florida). 37(3): Abstract # 2075 Page S457
    Akarsu A.N., Hossain A., Stoilov I., Turacli M.E., Aktan S.G., Barsoum-Homsy M., Chevrette L., Sarfarazi M 1996 Jan;
  • DNA rearrangements in Japanese facioscapulohumeral muscular dystrophy patients: clinical correlations.
    Goto, K; Lee, J H; Matsuda, C; Hirabayashi, K; Kojo, T; Nakamura, A; Mitsunaga, Y; Furukawa, T; Sahashi, K; Arahata, K Neuromuscular disorders : NMD 1995 May;5(3):201-8
  • An investigation into genetic and behavioral aspects of Dyslexia. 45th. Annual Meeting of the American Society of Human Genetics. October 24-28, 1995; Menneapolis, Minnesota
    Bradway D.M., Bamforth J.S., Contrino A., Young R.A., Ginsburg B.E., Sarfarazi M 1995 Jan;
  • Exclusion mapping of autosomal recessive primary congenital glaucoma (Buphthalmos). 45th. Annual Meeting of the American Society of Human Genetics. October 24-28, 1995; Minneapolis, Minnesota
    Hossain A., Akarsu A.N., Turacli M.E., Aktan S.G., Barsoum-Homsy M., Chevrette L., Sayli B.S., Sarfarazi M 1995 Jan;
  • Exclusion mapping of the adult-onset primary open angle glaucoma (POAG). Inves. Ophthal. Vis. Sci. (ARVO 1995 Annual Meeting, Florida). 36(4): Page S1034; Abstract # 4792
    Seghatoleslami M.R., Stoilova D., Child A., Crick R.P., Sarfarazi M 1995 Jan;
  • Fine mapping pf autosomal dominant optic atrophy on 3q28-qter. 45th. Annual Meeting of the American Society of Human Genetics. October 24-28, 1995; Minneapolis, Minnesota
    Child A., Stoilova D., Sarfarazi M 1995 Jan;
  • Genetic linkage study of adult-onset primary open angle glaucoma. 45th. Annual Meeting of the American Society of Human Genetics. October 24-28, 1995; Minneapolis, Minnesota
    Stoilova D., Child A., Stoilov I., Seghatoleslami M.R., Crick R.P., Sarfarazi M 1995 Jan;
  • Genetic linkage study of primary congenital glaucoma. Inves. Ophthal. Vis. Sci. (ARVO 1995 Annual Meeting; Florida). 36(4): Page S555; Abstract # 2577
    Akarsu A.N., Turacli M.E., Hossain A., Barsoum-Homsy M., Chevrette L., Aktan G., Sarfarazi M 1995 Jan;
  • Linkage evidence for founder effect and incomplete penetrance in a large seven-generation Turkish family with synpolydactyly. 45th. Annual Meeting of the American Society of Human Genetics. October 24-28, 1995; Menneapolis, Minnesota
    Sayli B.S., Akarsu A.N., Sarfarazi M 1995 Jan;
  • Localization of the synpolydactyly locus to 2q31 region and identification of tight linkage to the HOXD gene cluster. 45th. Annual Metting of the American Society of Human Genetics. October 24-28, 1995; Minneapolis, Minnesota
    Sarfarazi M., Akarsu A.N., Sayli B.S 1995 Jan;
  • Phenotype-genotype correlation of seven homozygote individuals in a large kindred with synpolydactyly. 45th. Annual Meeting of the American Society of Human Genetics. October 24-28, 1995; Minneapolis, Minnesota
    Akarsu A.N., Stoilov I., Sayli B.S., Sarfarazi M 1995 Jan;
  • Exclusion of primary congenital glaucoma (PCG) from two candidate regions of chromosomes 1 and 6. American Society of Human Genetics Annual Meeting Montreal, Quebec, Canada, October 18-22, 1994
    Sarfarazi M., Akarsu A.N., Barsoum-Homsy M., Turacli M.E., Houssain A., Chevrette L., Aktan G., Sayli B.S 1994 Jan;
  • Fine mapping of juvenile primary open angle glaucoma (POAG) on 1q21-q31 and exclusion of adult-POAG from the respective region. American Society of Human Genetics Annual Meeting Montreal, Quebec, Canada, October 18-22, 1994
    Seghatoleslami M.R., Child A., Fossarello M., Crick R.P., Sarfarazi M 1994 Jan;
  • Syndactyly Type II: Report on an extra-ordinary pedigree manifesting new clinical features and first example of possible homozygotes. American Society of Human Genetics Annual Meeting Montreal, Quebec, Canada, October 18-22, 1994
    Akarsu A.N., Sayli B.S., Sayli U., Sarfarazi M 1994 Jan;
  • A high resolution genetic map and a physical map of Facioscapulohumeral dystrophy (FSH) region on 4q35. Chromosome 4 Workshop. San Francisco, July 8-9, 1993
    Upadhyaya M., Sarfarazi M., Maynard J., Farnham J., Jardine P., Altherr M., Frants R., Lunt P., Harper P.S 1993 Jan;
  • A molecular genetic study of families with Primary Open Angle Glaucoma. Inves. Ophth. Vis. Sci. (ARVO Annual Meeting; May 2-7, Sarasota) 34: No.4: A3380: pp 1387
    Sarfarazi M., Child A., Fullwood P., Velinov M., Murphy W., Crick R.P 1993 Jan;
  • Autosomal dominant Ectopia Lentis is linked to several markers on chromosome 15. The American Pediatric Society Meeting
    Velinov M., Sarfarazi M., Kilpatrick M.W., Farndon P., Elsas II L.J., Reardon W., Davis S., Beckmann J., Weissenbach J., Tsipouras P 1993 Jan;
  • Juvenile and adult-onset primary open angle glaucoma (POAG): Are they two distinct genetic entities? Am. J. Hum. Genet. (Supplement) 53: (3); Abstract Number 1713
    Sarfarazi M., Child M., Crick R.P 1993 Jan;
  • Molecular analysis of 4q DNA rearrangements in sporadic and familial cases of facioscapulo-humeral muscular dystrophy (FSHD).American Society of Human Genetics (ASHG)
    Upadhyaya M., Jardine P., Maynard J., Farnham J., Sarfarazi M., Wijmenga C., Hewitt J.E., Frants R., Harper P.S., Lunt P.W 1993 Jan;
  • Analysis of family pedigrees in children with severe breath-holding spells. Ann. Neuro. 32: 455
    DiMario Jr. F.J., Dunbam B., Sarfarazi M 1992 Jan;
  • Congenital contractural arachnodactyly (CCA) is linked to the fibrillin gene on chromosome 5. American Society of Human Genetics Annaual Meeting; November 9-13, 1992, San Francisco, CA
    Velinov M., Raghunath C., Sarfarazi M., Kaitila I., Steinmann B., Tsipouras P 1992 Jan;
  • Genetic map of fibrillin-15, Marfan syndrome, Ectopia Lentis, Limb-Girdle muscular dystrophy on 15q; map of markers flanking fibrillin-5 and congenital contractural arachnodactyly on 5q. American Society of Human Genetics Annual Meeting; November 9-13, 1992, San Francisco, CA
    Tsipouras P., Velinov M., Del Mastro R., Sarfarazi M 1992 Jan;
  • Positional mapping of Primary Open Angle Glaucoma (POAG) using candidate gene approach. Am. J. Hum. Genet. 51 (4): A1467: pp 372
    Sarfarazi M., Child A., Velinov M., Murphy W., Tsipouras P., Crick R.P 1992 Jan;
  • Autosomal dominant inheritance of autoantibodies to thyroid peroxidase and thyroglobulin--studies in families not selected for autoimmune thyroid disease.
    Phillips, D; Prentice, L; Upadhyaya, M; Lunt, P; Chamberlain, S; Roberts, D F; McLachlan, S; Smith, B R The Journal of clinical endocrinology and metabolism 1991 May;72(5):973-5
  • A computer program for the automatic generation and formatting of references from the MEDLINE references system. Clinical Genetics 40(2): 164
    Fenton I., Aldred M.J., Crawford P.J.M., Harper P.S., Sarfarazi M 1991 Jan;
  • A database management system for Linkage analysis (dbLink). Clinical Genetics 40(2): 105
    Sarfarazi M 1991 Jan;
  • An international collaborative study of Facioscapulohumeral muscular dystrophy (FMD) locus and 4 DNA markers on 4q35 region. Human Gene Mapping 11; London, UK; Abstract 26916; Page 41. August 18-22: 1991
    Sarfarazi M., Wijmenga C., Upadhyaya M., Weiffenbach B., Hyser C., Mathews K., Murrays J., Gilbert J., Preicak-Vance M., Lunt P., Frants R.R., Jacobsen S. et al 1991 Jan;
  • An international consortium study of Marfan syndrome locus and 10 DNA markers on 15q. Human Gene Mapping 11; London, UK; Abstract 26917; Page 153. August 18-22: 1991
    Sarfarazi M., Tsipouras P., Del Mastro R., Kilpatrick M., Farndon P., Boxer M., Bridges A., Boileau C., Junien C., Hayward C., Brock D., Child A 1991 Jan;
  • Analysis of haplotype frequencies in Cystic Fibrosis families of South Wales. Clinical Genetics 40(2): 99
    Al-Jader L., Sarfarazi M., Meredith L., Goodchild M., Prosser R., Harper P.S 1991 Jan;
  • Confirmation of the gene location for Facioscapulohumeral disease (FSHD) on chromosome 4. J. Med. Genet. 28(8): 552
    Upadhyaya M., Broadhead W., Sarfarazi M., Lunt P., Owen M., Harper P 1991 Jan;
  • Facioscapulohumeral Disease (FSHD): A random search for the gene localization. Clinical Genetics 40(2): 104
    Sarfarazi M., Upadhyaya M., Broadhead W., Lunt P., Harper P.S 1991 Jan;
  • Genetic homogeneity of facioscapulohumeral disease and clinical application of 4q35 markers. Human Gene Mapping 11; London, UK; Abstract 27449; Page 39. August 18-22
    Lunt P.W., Upadhyaya M., Jardine P., Sarfarazi M., Harper P 1991 Jan;
  • Genetic linkage of Marfan syndrome to markers on chromosome 15. J. Med. Genet. 28(8): 552
    Tsipouras P., Sarfarazi M., Devi A.S., Weiffenbach B., Boxer M 1991 Jan;
  • Genetic map of chromosome 15 surrounding the Marfan syndrome locus. Ped. Res. 29: No. 4: Part 2: Page 134A (Abstract 787)
    Sarfarazi M., O'Connell M.P., Murphy W., Tsipouras P 1991 Jan;
  • Linkage analysis of Marfan syndrome with 47 markers. Clinical Genetics 40(2): 98-99
    Hudgins L., Hyde C.A., Sottile T.R., Blanton S.H., Schwartz R.C., Sarfarazi M., Tsipouras P 1991 Jan;
  • Multipoint linkage analysis of facioscapulohumeral disease with markers on 4q. Results of an international collaboration. Proceedings of the 8th International Congress of Human Genetics. 6-11 Oct 91 Washington D.C.; Abstract # 2012
    Sarfarazi M., Wijmenga C., Upadhyaya M., Weiffenbach B., Hyser C., Murray J., Mathews K., Frants R., Speer M., Preicak-Vance M., Lunt P., Harper P.S., Padberg G 1991 Jan;
  • Multipoint linkage analysis of Marfan syndrome locus with 10 DNA markers on 15q. Results of an international collaboration. Proceedings of the 8th International Congress of Human Genetics. 6-11 Oct 91 Washington D.C.; Abstract # 1883
    Sarfarazi M., Tsipouras P., Kilpatrick M., Boxer M., Boileau C., Hayward C 1991 Jan;
  • REFER version 2: a computer program for formatting and manipulating references from the MEDLINE and REFERENCE UPDATE systems. J. Med. Genet. 28(8): 561
    Fenton I., Aldred M., Crawford P., Briganti S., Sarfarazi M 1991 Jan;
  • Regional mapping of the facioscapulohumeral muscular dystrophy gene on 4q35: Linkage analysis of the international consortium. Proceedings of the 8th International Congress of Human Genetics. 6-11 Oct 91 Washington D.C.; Abstract # 143
    Padberg G.W., Wijmenga C., Upadhyaya M., Weiffenbach B., Hyser C., Mathews K., Murray J., Pericak-Vance M., Lunt P., Frants R.R., Harper P.S., Sarfarazi M 1991 Jan;
  • Saturation mapping of the region surrounding the Marfan syndrome locus on 15q1.5->q2.1. Proceedings of the 8th International Congress of Human Genetics. 6-11 Oct 91 Washington D.C.; Abstract # 1109
    Tsipouras P., Sarfarazi M., O'Connell M.P., Murphy W 1991 Jan;
  • The mapping of chromosome 4q markers in relation to facioscapulohumeral muscular dystrophy. Proceedings of the 8th International Congress of Human Genetics. 6-11 Oct 91 Washington D.C.; Abstract # 2037
    Upadhyaya M., Lunt P., Sarfarazi M., Broadhead W., Farnham J., Harper P.S 1991 Jan;
  • The Marfan syndrome locus is flanked by two markers on 15q1.5->q2.1. Am. Acad. Ped
    Tsipouras P., Sarfarazi M., O'Connell M.P., Murphy W 1991 Jan;
  • dbLink: A new database system for Linkage analysis. Am. J. Hum. Genet. (Supplement). 47: (3)-A198. Abstract No. 777
    Sarfarazi M 1990 Jan;
  • A multipoint linkage map around the locus for myotonic dystrophy on chromosome 19.
    Brunner, H G; Smeets, H; Lambermon, H M; Coerwinkel-Driessen, M; van Oost, B A; Wieringa, B; Ropers, H H Genomics 1989 Oct;5(3):589-95
  • A genetic linkage study of facioscapulohumeral (Landouzy-Dejerine) disease. Am. J. Hum. Genet. (Supplement). 45: (4)-A165. Abstract No. 644
    Upadhyaya M., Sarfarazi M., Lunt P., Broadhead W., Harper P.S 1989 Jan;
  • A map of the long arm of chromosome 19: an order for twelve polymorphic markers and the Myotonic dystrophy gene. Human Gene Mapping 10; New Haven, CT. Cytogenet. & Cell Genet. 51: 1011
    Harley H.G., Brook D.J., Rundle S.A., Walsh K.V., Sarfarazi M., Johnson K., Epstein H.F., McKeithan T.W., Harper P.S., Shaw D.J 1989 Jan;
  • A new probe (2R3) in the region of Huntington's disease. Human Gene Mapping 10; New Haven, CT. Cytogenet. & Cell Genet. 51: 1083
    Snell R.G., Youngman S., Lehrach H., Sarfarazi M., Harper P.S., Shaw D.J 1989 Jan;
  • An exclusion map for the Marfan syndrome (MS) locus. Am. J. Hum. Genet. (Supplement). 45: (4)-A131. Abstract No. 507
    Blanton S.H., Hyde C.A., Schwartz R.C., Sottile Jr. T.R., Sarfarazi M., Tsipouras P 1989 Jan;
  • Clinical applications of haplotype frequencies in Cystic Fibrosis families in Wales. Welsh Paediatrics Society Meeting. October 20-21: Cardiff, Wales
    Al-Jadar L., Meredith L., Sarfarazi M., Goodchild M., Prosser R., Harper P.S 1989 Jan;
  • Construction of an exclusion map for facioscapulohumeral muscular dystrophy from the linkage data. Human Gene Mapping 10; New Haven, CT. Cytogenet. & Cell Genet. 51: 1073-1074
    Sarfarazi M., Upadhyaya M., Padberg G., Pericake-Vance M., Siddique T., Lucotte G., Lunt P 1989 Jan;
  • Flanking markers for NF1. J. Med. Genet. 26: 211
    Upadhyaya M., Sarfarazi M., Huson S.M., Broadhead W., Fryer A., Harper P.S 1989 Jan;
  • Genetic linkage mapping of chromosome 17 markers and Neurofibromatosis type I (NF1)). Human Gene Mapping 10; New Haven, CT. Cytogenet. & Cell Genet. 51: 1094
    Upadhyaya M., Sarfarazi M., Huson S.M., Broadhead W., Fryer A., Harper P.S 1989 Jan;
  • Improved definition of carrier status through restriction fragment length polymorphism based linkage analysis in X-linked Hypohidrotic Ectodermal Dysplasia. Proceedings of the Greenwood Genetic Center. Volume 8: 160-161
    Zonana J., Sarfarazi M., Clarke A., Thomas N.S.T., Marymee K., Harper P.S 1989 Jan;
  • Linkage of Watson's syndrome to chromosome 17 markers. Am. J. Hum. Genet. (Supplement). 45: (4)-A165. Abstract No. 643
    Upadhyaya M., Sarfarazi M., Huson S.M., Broadhead W., Allanson J., Fryer A., Harper P.S 1989 Jan;
  • Linkage studies in Facioscapilohumeral disease. Human Gene Mapping 10; New Haven, CT. Cytogenet. & Cell Genet. 51: 1036
    Lunt P.W., Upadhyaya M., Sarfarazi M., Broadhead W., Harper P.S 1989 Jan;
  • Specific insulin receptor gene haplotypes which associate with type 2 (non-insulin-depenent) diabetes. European Association for the Study of Diabetes. 25th. Ann. Meet. Lisbon: Portugal. 19-23 Sep
    Morgan R., Bishop A., Sarfarazi M., Peters J.R., Owens D.R., Rees A 1989 Jan;
  • A NaK-ATPase gene excluded as a candidate gene for myotonic dystrophy. J. Med. Genet. 25: 283
    Harley H.G., Shaw D.J., Brook J.D., Walsh K., Sarfarazi M., Jackson C., Housman D., Harper P.S 1988 Jan;
  • A revised linkage map of the long arm of chromosome 19: multipoint linkage analysis of eight polymorphic markers to 19cen - 19q13.2 provides evidence that several markers flank the gene for myotonic dystrophy. Am. J. Hum. Genet. (Supplement). 43: A146: Abstract No. 580
    Harley H.G., Walsh K.V., Rundle S.A., Brook J.D., Sarfarazi M., Harper P.S., Shaw D.J 1988 Jan;
  • DNA markers linked to von Recklinghausen Neurofibromatosis (VRNF). J. Med. Genet. 25: 282
    Upadhyaya M., Sarfarazi M., Huson S.M., Broadhead W., Harper P.S 1988 Jan;
  • Further evidence localizing the gene for Hunter syndrome to Xq28. J. Med. Genet. 25: 280
    Roberts S.H., Upadhyaya M., Sarfarazi M., Harper P.S 1988 Jan;
  • Genetic counselling in Facioscapulohumeral Muscular Dystrophy. European Society of Human Genetics. Symposium on Neurogenetics. July 1-3: Cardiff: U.K
    Lunt P.W., Upadhyaya M., Noades J., Sarfarazi M., Compston D.A.S., Harper P.S 1988 Jan;
  • Haplotype frequencies in the Cystic Fibrosis and general population of Wales. Cystic Fibrosis Research Worker's Conference. 14-15 December 1988: Manchester
    Meredith A.L., Al-Jader L., Goodchild M., Sarfarazi M., Harper P.S 1988 Jan;
  • Linkage analysis of X-linked Hypohidrotic Ectodermal Dysplasia: Implications for carrier detection and prenatal diagnosis. J. Med. Genet. 25: 274
    Zonana J., Clarke A., Thomas N.S.T., Sarfarazi M., Roberts K., Marymee K., Harper P.S 1988 Jan;
  • Paramyotonia congenita excluded from the myotonic dystrophy region on chromosome 19. J. Med. Genet. 25: 279
    Koch M., Harley H., Sarfarazi M., Harper P.S 1988 Jan;
  • An exclusion map for Facioscapulohumeral muscular dystrophy. Human Gene Mapping 9; Paris, France. Cytogenet. & Cell Genet. 46: 652
    Lunt P., Upadhyaya M., Noades J., Sarfarazi M., Harper P.S 1987 Jan;
  • Emery Dreifuss muscular dystrophy: Further definition of the linkage to Xq28 DNA markers, including a useful new RFLP identified with the red/green pigment gene specific probe. Human Gene Mapping 9; Paris, France. Cytogenet. & Cell Genet. 46: 704
    Thomas N.S.T., Sarfarazi M., Roberts K., Williams H., Elsas L.J., Hopkins L.O., Nathans J., Harper P.S 1987 Jan;
  • Emery Dreifuss muscular dystrophy: Refinement of the linkage to Xq28 DNA markers, including a useful new RFLP identified with the red/green pigment gene specific probe. Am. J. Hum. Genet. (Supplement). 41: (3)-A188. Abstract No. 558
    Thomas N.S.T., Sarfarazi M., Roberts K., Williams H., Elsas L.J., Hopkins L.O., Nathans J., Harper P.S 1987 Jan;
  • Evidence that Bulbospinal Neuronopathy (BSN-X) lies distal to DXYS1 and X-linked Charcot-Marie-Tooth disease (CMT-X) lies proximal to DXYS1 on Xq. Am. J. Hum. Genet. (Supplement). 41: (3)-A101. Abstract No. 297
    Kelly T.E., Lunt P., Schnatterly P., Sarfarazi M., Thomas N.S.T., Harper P.S 1987 Jan;
  • Evidence that X-linked Charcot-Marie-Tooth Disease and X-linked Bulbospinal Neuronopathy loci are on opposite sides of DXYS1. Human Gene Mapping 9; Paris, France. Cytogenet. & Cell Genet. 46: 638
    Kelly T.E., Lunt P., Sarfarazi M., Schnatterly P., Thomas N.S.T., Harper P.S 1987 Jan;
  • Further evidence localizing the gene for Hunter syndrome to the most distal band of the X chromosome long arm. Human Gene Mapping 9; Paris, France. Cytogenet. & Cell Genet. 46: 682
    Roberts S.H., Upadhyaya M., Sarfarazi M., Harper P.S 1987 Jan;
  • Gene mapping by exclusion in Facioscapulohumeral muscular dystrophy. Am. J. Hum. Genet. (Supplement). 41: (3)-A175. Abstract No. 517
    Lunt P., Upadhyaya M., Sarfarazi M., Padberg G., Noades J., Harper P.S 1987 Jan;
  • Peripheral neurofibromatosis - Progress mapping of the disease locus. J. Med. Genet. 24: 246
    Huson S.M., Upadhyaya M., Sarfarazi M., Edwards J., Harper P.S 1987 Jan;
  • PLOT2000: A universal pedigree plotting program. J. Med. Genet. 24: 246-247
    Wolak G., Sarfarazi M 1987 Jan;
  • Potential use of RFLPs for carrier detection and prenatal diagnosis of hypohidrotic ectodermal dysplasia (HED). Am. J. Hum. Genet. (Supplement). 41: (3)-A109. Abstract No. 311
    Sarfarazi M., Clarke A., Zonana J., Thomas N.S.T., Roberts K., Harper P.S 1987 Jan;
  • Regional localization of X-linked hypohidrotic ectodermal dysplasia (EDA). Human Gene Mapping 9; Paris, France. Cytogenet. & Cell Genet. 46: 594
    Clarke A., Sarfarazi M., Zonana J., Thomas N.S.T., Roberts K., Harper P.S 1987 Jan;
  • Regional mapping of myotonic dystrophy and other markers on chromosome 19. Am. J. Hum. Genet. (Supplement). 41: (3)-A184. Abstract No. 546
    Shaw D.J., Brook J.D., Harley H.G., Sarfarazi M., Walsh K.V., Rettig W., Skinner M., Harper P.S 1987 Jan;
  • Sequence of DNA probes and the gene for x-linked Charcot-Marie-Tooth disease on proximal Xq. J. Med. Genet. 24: 639
    Kelly T.E., Schnatterly P., Sarfarazi M., Thomas N.S.T., Harper P.S 1987 Jan;
  • The application of closely linked restriction fragment length polymorphisms in counselling families with Myotonic dystrophy. J. Med. Genet. 24: 239
    Lunt P.W., Meredith A.L., Huson S.M., Sarfarazi M., Harper P.S 1987 Jan;
  • Von Recklinghausen Neurofibromatosis (VRNF): An exclusion map based on the linkage data. Human Gene Mapping 9; Paris, France. Cytogenet. & Cell Genet. 46: 687
    Sarfarazi M., Huson S.M., Edwards J.H 1987 Jan;
  • X-linked myotubular myopathy (XLMTM): Another muscle disease gene localised to Xq28. Am. J. Hum. Genet. (Supplement). 41: (3)-A110. Abstract No. 324
    Williams H., Sarfarazi M., Roberts K., Thomas N.S.T., Leichti-Gallati S., Harper P.S 1987 Jan;
  • X-linked myotubular myopathy (XLMTM): Evidence for linkage to Xq28 DNA markers. Human Gene Mapping 9; Paris, France. Cytogenet. & Cell Genet. 46: 704
    Thomas N.S.T., Sarfarazi M., Roberts K., Williams H., Cole G., Liechti-Gallati S., Harper P.S 1987 Jan;
  • A linkage analysis between hereditary chorea and the locus D4S10 (G8). 7th. International Congress of Human Genetics. Page 607
    Quarrell O.W.J., Youngman S., Sarfarazi M., Harper P.S 1986 Jan;
  • A microcomputer register for Huntington's Chorea. J. Med. Genet. 23: 471-472
    Sarfarazi M, Wolak G., Quarrell O 1986 Jan;
  • Adult polycystic kidney disease and the alpha globin locus: A genetic linkage study in South Wales. J. Med. Genet. 23: 472-473
    Lazarou L., Davies F., Readers S., Coles G., Sarfarazi M., Harper P.S 1986 Jan;
  • Anhidrotic Ectodermal Dysplasia : Localisation to X chromosome long arm by DNA markers. Am. J. Hum. Genet. (Supplement). 39: (3)-A151 Abstract No: 445
    Clarke A., Sarfarazi M., Thomas N.S.T., Harper P.S 1986 Jan;
  • Application of a closely linked restriction fragment length polymorphism to genetic counselling and prenatal prediction in families with Myotonic dystrophy. Am. J. Hum. Genet. (Supplement). 39: (3)-A180 Abstract No: 533
    Meredith A.L., Huson S.M., Lunt P.W., Sarfarazi M., Harley H.G., Brook J.D., Shaw D.J., Harper P.S 1986 Jan;
  • Benign hereditary chorea, Huntington's disease and linkage to D4S10. Am. J. Hum. Genet. (Supplement). 39: (3)-A99 Abstract No: 290
    Quarrell O., Youngman S., Sarfarazi M., Harper P.S 1986 Jan;
  • Gene mapping and myotonic dystrophy. Muscle and Nerve 55: 231
    Shaw D.J., Brook J.D., Meredith A.L., Sarfarazi M., Harper P.S 1986 Jan;
  • Hypohidrotic ectodermal dysplasia: localisation to the proximal long arm of the X chromosome. J. Med. Genet. 23: 473
    Clarke A., Sarfarazi M., Thomas N 1986 Jan;
  • Linkage relationships and localisation of myotonic dystrophy and chromosome 19 markers. 7th. International Congress of Human Genetics. Page 621
    Harley H.G., Shaw D.J., Brook J.D., Meredith A.L., Sarfarazi M., Huson S.M., Harper P.S 1986 Jan;
  • Localisation of the gene for Emery-Dreifuss muscular dystrophy to the distal long arm of the X-chromosome. Am. J. Hum. Genet. (Supplement). 39: (3)-A170 Abstract No: 503
    Thomas N.S.T., Williams H., Elsas L.J., Hopkins L.C., Sarfarazi M., Harper P.S 1986 Jan;
  • Use of a computer programme in maintaining the clinical data on Huntington's disease patients. Am. J. Hum. Genet. (Supplement). 39: (3)-A79 Abstract No: 229
    Sarfarazi M, Wolak G., Quarrell O., Harper P.S 1986 Jan;
  • Evidence supporting the localisation of Hunter syndrome gene on the long arm of the X-chromosome. Am. J. Hum. Genet. 37: 80
    Upadhyaya M., Sarfarazi M., Bamforth S., Harper P.S., Young I.D 1985 Jan;
  • Linkage analysis of seven DNA probes on the short arm of the X-Chromosome in families with Duchenne and Becker muscular dystrophies. Human Gene Mapping 8; Helsinki, Finland. Cytogenet. & Cell Genet. 40: 591
    Brown C., Sarfarazi M., Thomas N., Kingston H.M., Harper P.S 1985 Jan;
  • Multiple linkage analysis of some markers on chromosome 19. Human Gene Mapping 8; Helsinki, Finland. Cytogenet. & Cell Genet. 40: 736-737
    Sarfarazi M, Shaw D.J., Huson S.M., Meredith A.L., Harper P.S 1985 Jan;
  • Myotonic dystrophy, peripheral neurofibromatosis and chromosome 19 markers. J. Med. Genet. 22: 396
    Huson S.M., Shaw D.J., Meredith A.L., Sarfarazi M., Brook J.D., Harper P.S 1985 Jan;
  • RISKDNA: An interactive computer programme for combining DNA-derived risks with pedigree data and other conditional information in X-linked disorders. Am. J. Hum. Genet. 37: 136
    Sarfarazi M, Williams H 1985 Jan;
  • Genetics and linkage relationships of the C3 polymorphism: discovery of C3-Se linkage and assignment of LES-C3-DM-Se-PEPD-Lu synteny to chromosome 19.
    Eiberg, H; Mohr, J; Nielsen, L S; Simonsen, N Clinical genetics 1983 Sep;24(3):159-70

Editorials

Letters

Other

  • Identification of three novel VEGFR-3 mutations in families with Primary Congenital Lymphoedema
    Evans A.L., Brice G., Comeglio P., Jeffery S., Mortimer P., Sarfarazi M., Child A.H. Human Mutation 2002 Jan;

Reviews

Title or AbstractTypeSponsor/EventDate/YearLocation
Genetic Screening of LOXL1 in Exfoliation GlaucomaTalkAssociation for Research in Vision and Ophthalmology (ARVO)2008Fort Lauderdale, Florida
Common Challenges in Glaucoma GeneticsTalkThe 7th Asia Pacific Society of Eye Genetics Symposium (APSEG)2006Hong Kong
Gene Identification and Protein Characterization of Glaucoma Causing Molecules (Keynote Presentation)TalkOcular Cell & Molecular Biology Conference2005Sarasota, Florida
Identification of WDR36 as a Novel Gene for Adult-Onset Primary Open Angle Glaucoma (POAG) at the GLC1G Locus on 5q22.1TalkAssociation for Research in Vision and Ophthalmology (ARVO)2005Fort Lauderdale, Florida
Adult-Onset Primary Open Angle Glaucoma Results From Mutations in OptineurinTalkAssociation for Research in Vision and Ophthalmology (ARVO)2002Fort Lauderdale, Florida
Recent advances in the search for glaucoma genesTalkUK Glaucoma Society2001London, UK
Molecular Genetics Studies of Primary GlaucomaTalkThe First Congress of Genetic Disorders and Disabilities in Iran1999Tehran Iran
Strategies for positional mapping, cloning and mutation screening of an unknown inherited disease geneTalkThe First Congress of Genetic Disorders and Disabilities in Iran1999Tehran, Iran
Primary congenital glaucoma results from different mutations in the structural core of Cytochrome P4501B1 (CYP1B1)TalkInternational symposium on experimental and clinical ocular pharmacology and pharmaceutics1997Munich, Germany
The first locus for Adult-Onset Primary Open Angle Glaucoma (GLC1B) maps to the 2Cen-q13 RegionTalkAssociation for Research in Vision and Ophthalmology (ARVO)1997Fort Lauderdale, Florida
Genetic linkage relationship of Juvenile and Adult-Onset Primary Open Angle Glaucoma (POAG) with DNA markers on 1qTalkAssociation for Research in Vision and Ophthalmology (ARVO)1994Sarasota, Florida