Dr. Marious Kambouris, Ph.D.

Professor of Health Administration & Biotechnology Studies

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Dr. Kambouris is a trained medical and molecular geneticist and assumes the position of Professor of Health Administration and Biotechnology Studies at UGSM-Monarch Business School.  He presently holds the position of Associate Professor of the Department of Genetics at the Yale University School of Medicine in New Haven, Connecticut. He is certified by the American Board of Medical Genetics in Clinical Molecular Genetics. Dr. Kambouris holds a Ph.D. in Medical and Molecular Genetics from the Indiana University School of Medicine in Indianapolis, Indiana. He has held a Post-Doctoral fellowship in Clinical Molecular Genetics and Clinical Genetics at the Henry Ford Hospital in Detroit, Michigan culminating in over ten years of post-doctoral experience in Genetics and Genomics.

He is widely considered an expert in Biotechnology, both in scientific planning and business development. His interest lie in global alliances, venture capital recruiting and private investment fund raising. He is jointly responsible for the formulation of scientific plans and for negotiating for the formation of a Genomics company on behalf of the Research Center of King Faisal Hospital (Riyadh, Saudi Arabia) with British Aerospace Systems (part of an offset program) and Merlin Ventures (a UK based Venture Capitalist Company).

In Clinical Genetics he holds extensive experience in examining, diagnosing, risk assessing, counseling and managing patients with a multitude of genetic disorders, congenital malformations, dysmorphia and mental retardation in Genetics clinics, in-patient consultations, field clinics, growth clinics and Neurology clinics at the Henry Ford Hospital (Detroit, MI, USA), Children’s Hospital of Michigan (Detroit, MI, USA) and Riley Hospital for Children (Indianapolis, IN, USA). He also has experience in risk assessing and Genetic counseling for high-risk pregnancy patients (maternal age, family history of genetic disorders, teratogenic exposures, abnormal MSAFP, etc.) in Prenatal Diagnosis clinics at Indiana University and Wishard Memorial Hospitals (Indianapolis, IN, USA).

In DNA Diagnostics he has been the director of the Molecular Genetics & DNA Diagnostics laboratory at King Faisal Hospital & Research Center for eight years (Riyadh, Saudi Arabia) with extensive experience establishing, performing & interpreting DNA diagnostic testing, assessing and signing clinical and prenatal cases for diseases such as Cystic Fibrosis, Fragile-X Syndrome, Multiple Endocrine Neoplasia (MEN 2A, 2B), Medullary Thyroid Carcinoma (MTC), Myotonic Dystrophy, Sickle Cell Disease. His Molecular Genetics research interest have focused on mapping human disease genes and he has been involved in the localization and/or identification of more than ten novel human genes. Dr. Kambouris is also the Scientific Director & Chief Operating Officer of Synergene Biotechnology Group in Attard, Malta.

Academic Positions Held
  • Professor of Health Administration and Biotechnology Studies, UGSM-Monarch Business School
  • Adjunct Professor, Department of Genetics Yale School of Medicine, Connecticut
  • Head Scientist, Laboratory for Molecular Genetics  & DNA Diagnostics, King Faisal Specialist Hospital-Riyad Saudi Arabia
Academic Credentials
  • Post Doctoral Fellowship in Clinical Molecular Genetics, Henry Ford Hospital, Detroit Michigan
  • Ph.D. Medical and Molecular Genetics & Life Sciences, Indiana University School of Medicine
  • Bachelor of  Science in Biochemistry & Molecular Biology-State University of New York
Awards And Honors
  • Post Doctoral Fellow, DNA Diagnostic Laboratory, Henry Ford Hospital
  • Post Doctoral Fellow, Molecular Cytogenetics Laboratory, Henry Ford Hospital
  • Post Doctoral Fellow, Medical Genetics Clinic, Henry Ford Hospital
  • Board Certification – #96091 American Board of Medical Genetics
Main Academic Interests
  • Research & Development Programs
  • Molecular Diagnostic Services
  • “Know-how” Marketing in Medical & Molecular Genetics and Genomics
  • Formulation of Global Alliances
  • Venture Capital Recruiting
  • Private Investment Fund Raising
Professional Positions Held In The Past
  • Scientific Director & Chief Operating Officer, Synergene Holdings, Attard, Malta
  • Genomics Business Development, AraGene Unit, Research Center, King Faisal Specialist Hospital
Associations And Memberships
  • Member, ACBSP-Accreditation Council For Business Schools & Programs, USA
  • Member, ECBE-European Council For Business Education, Switzerland
  • Member, American Society of Human Genetics
  • Diplomate, American Board of Medical Genetics
  • Fellow, American College of Medical Genetics
  • Member, Editorial Board The Journal of Endocrine Genetics, Freund Publishing House
  • Member, Advisory Board of Directors, Data Unlimited International Inc, Gaithersburg, MD, USA
Languages
  • English
  • Greek
Selected Publications
  • Kambouris M, Dlouhy SR, Trofatter JA, Connealy PM, Hodes ME: Localization of the Gene for X-linked Nephrogenic Diabetes Insipidus to Xq28. American Journal of Medical Genetics 29: 239-247, 1988.
  • Kambouris M, Sangameswaran L, Dlouhy SR, Ghetti B, Hodes ME, Triarhou LC: Cellular Distribution of the RNA Transcripts of a Newly Discovered Gene in the Brain of Normal, Weaver, Purkinje Cell Degeneration and Reeler Mutant Mice as Evidenced by In Situ Hybridization Histochemistry. Molecular Brain Research 18: 321-328, 1993.
  • Kambouris M, Triarhou LC, Dlouhy SR, Sangameswaran L, Luo F, Ghetti B, Hodes ME: Novel cDNA Clones Obtained by Antibody Screening of a Mouse Cerebellar cDNA Expression Library. Molecular Brain Research 25: 183-191, 1994.
  • Kambouris M, Sangameswaran L, Triarhou LC, Kozak CA, Dlouhy SR, Ghetti B, Ho des ME: Molecular Characterization of a Novel cDNA from Murine Cerebellum: Developmental Expression and Distribution in Brain. Molecular Brain Research 25: 192-199, 1994.
  • Goldstein DJ, Kambouris M, Ward, RE: Familial Crossed Polysyndactyly. American Journal of Medical Genetics 50: 215- 223, 1994
  • Feldman GL, Kambouris M, Talpos GB, Mulligan LM, Ponder BAJ, Jackson CE: Clinical Value of Direct DNA Analysis of the RET Proto-oncogene in Families with Multiple Endocrine Neoplasia Type 2A. Surgery 116: 1042-1047, 1994.
  • Dennehy PJ, Feldman GL, Kambouris M, O’Malley ER, Sanders CY, Jackson CE: Relationship of Familial Prominent Corneal Nerves and Lesions of the Tongue Resembling Neuromas to Multiple Endocrine Neoplasia Type 2B. American Journal of Ophthalmology 120: 456-461, 1995.
  • Kambouris M, Jackson CE, Feldman GL: Diagnosis of Multiple Endocrine Neoplasia (MEN) 2A, 2B and Familial Medullary Thyroid Carcinoma (FMTC) by Multiplex PCR and Heteroduplex Analyses of RET Proto-oncogene Mutations. HumanMutation8:64-70,1996.
  • Kambouris M, Snow K, Thibodeau S, Green M, Bluhm D, Feldman GL: Unusual Somatic Instability in the FMR-1 Locus in a Mildly Affected Male. American Journal of Medical Genetics 64: 404-407, 1996.
  • Stephens JC, …Kambouris M, … Dean M: Dating of the Origin of the CCR5?32 AIDS-Resistance Allele by the Coalescence of Haplotypes. American Journal of Human Genetics 62: 1507-1515, 1998.
  • Quari MH, Khalil SH, Kambouris M, Meyer BF: Mutation of p16, p21 or Cyclin Dependent Kinase 4 is Rare in Acute Lymphoblastic Leukemia. British Journal of Hematology 103: 467-472, 1998.
  • Al-Jishi E, Meyer BF, Al-Essa M, Rashed M, Al-Hamed MH, Sakati N, Sanjad S, Ozand PT, Kambouris M: Clinical, Biochemical and Molecular Characterization of Patients with Glutathione Synthetase Deficiency. Clinical Genetics 55: 444-449, 1999.
  • Diaz GA, Gelb BD, Ali F, Sakati N, Sanjad S, Meyer BF, Kambouris M: The Sanjad-Sakati and Autosomal Recessive Kenny-Caffey Syndromes are Allelic: Evidence for an Ancestral Founder Mutation and Locus Refinement. American Journal of Medical Genetics 85: 48-52, 1999.
  • Banjar H, Kambouris M, Meyer BF, al-Mehaidib A, Mogarri I Geographic distribution of cystic fibrosis transmembrane regulator gene mutations in Saudi Arabia. Annals of Tropical Paediatrics 19: 69-73, 1999.
  • Bohlega S, Kambouris M, Shahid M, Homsi M, Al-Sous W: Gaucher Disease with Oculomotor Apraxia and Cardiovascular Calcification. (Gaucher Type IIIC). Neurology, 54: 261-3, 2000.
  • Kambouris M, Bohlega S, Al-Tahan A, Meyer BF: Localization of the Gene for a Novel Autosomal Recessive Neurodegenerative Huntington-like Disorder to Hsa 4p15.3 American Journal of Human Genetics, 66: 445-452, 2000.
  • Kambouris M, Meyer BF Interpretation of linkage data for a Huntington-like disorder mapping to 4p15.3. American Journal ?f Human Genetics 67: 263, 2000.
  • Kambouris M, Banjar H, Moggari I, Nazer H, Al-Hamed M, Meyer BF: Identification of Novel Mutations in Arabs with Cystic Fibrosis and their Impact on the Cystic Fibrosis Transmembrane Regulator Mutation Detection Rate in Arab Populations. EuropeanJournalofPediatrics,159:303-309,2000.
  • Bohlega S, Al-Tahan A, Kambouris M, Divakaran M: Neurodegenerative Huntington-Like Disorder. Movement Disorders, 16: 533-534, 2001.
  • Abdul Wahab A, Al Thani G, Dawod ST, Kambouris M, Al Hamed M Heterogeneity of the cystic fibrosis phenotype in a
    large kindred family in qatar with cystic fibrosis mutation (I1234V). Journal of Tropical Paediatrics 47: 110-112, 2001.
  • Martignetti JA, Al Aqeel A, Al Sewairi W, Boumah CE, Kambouris M, Al Mayouf S, Sheth KV, Al Eid W, Dowling O, Harris J, Glucksman MJ, Bahabri S, Meyer BF, Desnick RJ. Inherited Mutations in the Matrix Metalloproteinase 2 Gene (mmp-2) Result in a Syndrome of Multicentric Osteolysis and Arthritis. Nature Genetics, 28: 261-265, 2001.
  • Abu-Amero K, Wyngaard C, Kambouris M, Dzimiri N: Prevalence of the 20210 G?A Prothrombin Variant and its Association with Coronary Artery Disease in Middle-Eastern Arab Population. Archives of Pathology and Laboratory Medicine, 126: 1087-1090, 2002.
  • The HRD/Sanjad-Sakati/Autosomal Recessive Kenny-Caffey Syndrome Consortium: Group 1: Parvari R, Hershkovitz E, Grossman N, Gorodischer R, Loeys B, Zecic A, Mortier G, Gregory S, Sharony R, Group 2: Kambouris M, Sakati N, Meyer BF, Group 3: Al Aqeel AI, Al Humaidan A, Al Zanhrani F, Al Swaid A, Al Othman J, Group 4: Diaz GA, Weiner R, K. Khan TS, Gordon R, Gelb BD: Mutation of a Tubulin-Specific Chaperone Gene, TBCE, Causes the HRD/Sanjad- Sakati/Autosomal Recessive Kenny-Caffey Syndrome. Nature Genetics: 32 448-452.
  • Hodgkinson CA, Bohlega SA, Abu-Amero SN, Cupler EJ, Kambouris M, Meyer BF, Bharucha VA: A Novel Autosomal Recessive Pure Hereditary Spastic Paraplegia in a Saudi Family Showing Linkage to Chromosome 13q14. Neurology, 59: 1905-1909, 2002.
  • Wahab AA, Janahi IA, Hebi S, al-Hamed M, Kambouris M Cystic Fibrosis in a Child from Syria. Annals of Tropical
    Paediatrics 22: 53-55, 2002
  • Abu-Amero, K, Wyngaard CA, Al-Boudari OM, Kambouris M, Dzimiri N: Lack of Association of Lipoprotein Lipase Gene Polymorphisms with Coronary Artery Disease in Arab Populations. Archives of Pathology and Laboratory Medicine. 127: 597-600, 2003.
  • Bohlega S. Lach B. Meyer BF. Al Said Y. Kambouris M. Al Homsi M. Cupler EJ: Autosomal dominant hyaline body myopathy: clinical variability and pathologic findings. Neurology 61: 1519-23, 2003.
Abstracts
  • Kambouris M, Dlouhy SR, Trofatter JA, Hodes ME: Preliminary Localization of X-linked Nephrogenic Diabetes Insipidus in the XqTerminal Region. American Journal of Human Genetics [Supplement] 41: A171, 1987.
  • Goldstein DJ, Kambouris M: Familial Mixed Polysyndactyly. American Journal of Human Genetics [Supplement] 41: A63, 1987.
  • Kambouris M, Hodes ME, Connealy PM, Trofatter JA, Dlouhy SR: Nephrogenic Diabetes Insipidus Linked to Xq28. Abstracts of the Ninth International Workshop on Human Gene Mapping, 1987.
  • Kambouris M, Hodes ME, Connealy PM, Trofatter JA, Dlouhy SR: Nephrogenic Diabetes Insipidus Linked to Xq28. Cytogenetics and Cell Genetics 46: 636, 1987.
  • Kambouris M, Sangameswaran L, Dlouhy SR, Triarhou LC, Ghetti B, Hodes ME: Granule Cell Antiserum Identifies a Brain Specific cDNA in an Expression Library Derived from Neonatal Heterozygous Weaver Cerebella. Society for Neuroscience Abstracts 17: 556, 1991.
  • Kambouris M, Sangameswaran L, Triarhou LC, Dlouhy SR, Ghetti B, Hodes ME: Granule Cell Antiserum Identifies GC cDNAs in an Expression Library Derived from Neonatal Heterozygous Weaver Cerebella. Journal of Neuropathology and Experimental Neurology 51: 350, 1992.
  • Kambouris M, Triarhou LC, Sangameswaran L, Dlouhy SR, Ghetti B, Hodes ME.: Molecular Characterization of a Novel Cerebellar cDNA, Prenatal Ontogeny, and Cellular Distribution in the Brains of Normal, Weaver, PCD and Reeler Mutant Mice. Society for Neuroscience Abstracts 18: 53, 1992.
  • Kambouris M, Triarhou LC, Sangameswaran L, Dlouhy SR, Ghetti B, Hodes ME: Identification of 15 Novel Cerebellar cDNAs by Screening a Neonatal Heterozygous Weaver Cerebellar Expression Library with an Anti-Granule Cell Antiserum; Molecular Characterization, Prenatal Ontogeny, and Cellular Distribution of One Novel cDNA in Neu- rological Mutant Mice and in Human Cerebellum. American Journal of Human Genetics [Supplement] 51: A121, 1992.
  • Kambouris M, Hodes ME, Ghetti B, Triarhou LC: Cellular Distribution of a Novel Cerebellar cDNA in the Brain of Normal, Weaver, Purkinje Cell Degeneration and Reeler Mutant Mice as Revealed by In Situ Hybridization Histochemistry. Abstracts of the International Brain Research Organization Workshop on Mechanism of Neuronal Plasticity, p. 86, 1992.
  • Kambouris M, Sangameswaran L, Triarhou LC, Kozak CA, Dlouhy SR, Ghetti B, Hodes ME: Molecular Characterization of Two Novel cDNAs Obtained by Antibody Screening of a Mouse Cerebellar cDNA Expression Library. Journal of Neuropathology and Experimental Neurology 52: 287, 1993.
  • Kambouris M, Sangameswaran L, Triarhou LC, Kozak CA, Dlouhy SR, Ghetti B, Hodes ME: Mouse Cerebellar cDNA Expression Library Screening: Novel clones. Clinical Neuropathology [Supplement 1]: 12: S49, 1993.
  • Feldman GL, Li P, Kambouris M, Ponder BAJ, Mulligan LM, Jackson CE: Presymptomatic Diagnosis of Multiple Endocrine Neoplasia 2A (MEN 2A) by Direct Mutation Analysis of the RET-Proto Oncogene. American Journal of Medical Genetics, 52: 366, 1994.
  • Kambouris M, Snow K, Thibodeau S, Green M, Bluhm D, Feldman GL: Segregation of the Fragile-X Mutation from an Affected Male: Evidence of Unusual Somatic Instability in the FMR-1 Locus. American Journal of Human Genetics [Supplement] 55: A225, 1994.
  • Kambouris, M, Jackson CE, Feldman GL: Presymptomatic Diagnosis of MEN 2A, MEN 2B and FMTC Using Multiplex PCR and Mutation Detection Enhancement (MDE) for Simultaneous Heteroduplex Identification of Multiple RET Proto-oncogene mutations. 26th March of Dimes Clinical Genetics Conference; 2nd Annual Meeting of the American College of Medical Genetics. 1994.
  • Kambouris M, Jackson CE, Feldman GL: Diagnosis of Multiple Endocrine Neoplasia [MEN] 2A, 2B & Familial Medullary Thyroid Cancer [FMTC] by multiplex PCR and heteroduplex analyses of RET proto-oncogene mutations. American Journal of Human Genetics [Supplement] 57: A68, 1995.
  • Kambouris M, Meyer BF, Banjar H, Al-Hamed MH, Moggari I, Ozand P. Identification of Two Novel CFTR Exonic Deletions [425del42 & 1549delG] in Cystic Fibrosis (CF) Patients by Mutation Detection Enhancement (MDE) Heteroduplex Analyses. Possible Founder Effect Associated with the 1540A?G Polymorphism. American Journal of Human Genetics [Supplement] 59: A397 1996.
  • Meyer BF and Kambouris M. Resolution of Homozygous Sequence Alterations in the CFTR Gene by Mutation Detection Enhancement (MDE) Analysis Independent of Heteroduplex Formation Reveals a Novel Mutation [548A?T] that Causes Cystic Fibrosis in Homozygous Patients. American Journal of Human Genetics [Supplement] 59: A399 1996.
  • Bohlega S, Shahid M, Kambouris M, Al-Sous W. Gaucher’s Disease Variant with Oculomotor Apraxia & Cardiovascular Calcification: Unique Genotype with 1342C (D409H) Mutation. European Neurological Society Abstracts, 1997
  • Kambouris M, Rahbeeni Z, Meyer BF, Al-Yamani EA, Ozand PT, Rashed M: Mutation screening of the MCAD gene in Patients with Biochemical Medium-Chain Fatty Acid Oxidation Defects (MCFAOD). American Journal of Human Genetics [Supplement] 61: A254 1997.
  • Al-Jishi E, Meyer BF, Rashed M, Al-Hamed MH, Sakati N, Sanjad S, Ozand PT, Kambouris M: Molecular Analyses of the Glutathione Synthetase (GSS) Gene in Patients with Pyroglutatmnic Aciduria. American Journal of Human Genetics [Supplement] 61: A248 1997.
  • Meyer BF, Qari M, Kambouris M, Khalil S: Screening of Primary Acute Lymphoblastic Leukemia Samples for the Presence of Mutations in the p16, p21 & CDK4 Genes. Blood 90: 3626 1997.
  • Kambouris M, Bohlega S, Tahan A, Meyer BF: Localization of the Gene for a Novel Basal Ganglia Progressive Neurodegenerative Disorder to Hsa 4p16.1 American Journal of Human Genetics [Supplement] 63: A294, 1998.
  • Ali F, Diaz G, Sakati N, Sanjad S, Meyer B, Gelb B, Kambouris M: Localization of the Gene for the Sanjad-Sakati syndrome to 1q43. American Journal of Human Genetics [Supplement] 6: A279, 1998.
  • Meyer BF, Kambouris M: Mutation Detection Enhancement (MDE) Heteroduplex Analysis Reveals Single Nucleotide Polymorphisms Associated with Uninformative Microsattelietes. American Journal of Human Genetics [Supplement] 63: A301, 1998.
  • Diaz GA; Khan KT; Sakati N; Sanjad S; Meyer BF; Kambouris M; Gelb BD Linkage mapping of the Kenny-Caffey syndrome and evidence for allelism with the Sanja d-Sakati syndrome. Pediatric Research 45: 798 1999
  • Diaz GA; Khan KT; Sakati N; Sanjad S; Meyer BF; Kambouris M; Gelb BD Linkage mapping of the Kenny-Caffey syndrome and evidence for allelism with the Sanjad-Sakati syndrome. Journal of Investigative Medicine 47: 164A, 1999
  • Kambouris M, Meyer BF, Bahabri S: Localization of the Gene for NAO Syndrome (Nodulosis, Arthropaty & Osteolysis) to 16p11.2-21. American Journal of Human Genetics [Supplement] 65: A59, 1999.
  • Kambouris M, Shabib S, Nazer H, Al-Mehaidib A, Abu-Amero S, Meyer BF: Localization of the gene for a novel disease characterized by Intestinal Lymphangiectasia to 6p21-22. Evidence for genetic heterogeneity. American Journal of Human Genetics [Supplement] 67: 324, 2000.
  • Abu-Amero S, Meyer BF, Boumah CE, Hodgkinson C, Barucha V, Butt A, Cupler E, Kambouris M, Bohlega S: A Novel Congenital Autosomal Dominant Hyaline Body Myopathy in a Saudi Family Showing Linkage to Chromosome 6q. American Journal of Human Genetics [Supplement] 67: 274, 2000.
  • Meyer BF, Kambouris M, El-Samadi S, Boumah C, Abu-Amero S, Butt A, Al-Fadley A, Crossner C, Pedersen K, Ullbro C: Phenotype/Genotype Correlation of a Cohort of Patients with Papillon-Lefevere Syndrome. American Journal of Human Genetics [Supplement] 67: 2329, 2000.
  • Cupler E, Hodgkinson C, Abu-Amero S, Meyer BF, Kambouris M, Boumah C, Bohlega S, Bharucha VA: Nonaka Myopathy In A Large Saudi Kindred Not Linked To Chromosome 9 Neurology 56: A440, 2001.
  • Hejazi NS; Chaves EC; Boumah C; Abu-Amero SSN; Dabbagh O; Ozand P; Essa M; Kambouris M; Meyer B Linkage of hyperekplexia (HEK) in three Saudi families to chromosome 4q31.3 associated with the glycine receptor beta subunit (GLR beta) Neurology 56: A132, 2001.
  • Martignetti JA, Al Aqeel A, Al Sewairi W, Boumah CE, Kambouris M, Al Mayouf S, Sheth KV, Al Eid W, Dowling O, Harris J, Glucksman MJ, Bahabri S, Meyer BF, Desnick RJ: The First Matrix Metalloportainase Disease: MMP-2 Deficiency Results in A Multicentric Osteolysis Syndrome. American Journal of Human Genetics [Supplement] 69: 189, 2001.
  • Hodgkinson CA, Bohlega SA, Cupler EJ, Abu-Amero SN, Boumah CE, Kambouris M, Meyer BF, Bharucha VA: A Novel Autosomal Recessive Pure Hereditary Spastic Paraplegia in a Saudi Family Showing Linkage to Chromosome 13q. American Journal of Human Genetics [Supplement] 69: 499, 2001.
  • Bharucha V A, Cupler EJ, Bohlega SA, Boumah CE, Abu-Amero SN, Kambouris M, Meyer BF, Hodgkinson CA: A Novel Distal Myopathy with Rimmed Vacuoles in a Large Saudi Kindred is Linked to Chromosome 12. American Journal of Human Genetics [Supplement] 69: 538, 2001.
  • Abu-Amero K, Bohlega S, Al-Shubili A, Kambouris M: Clinical and Genetic Spectrum of CADASIL in Three Arab Families. British Human Genetics Conference, 2002.
  • Abu-Amero S, Bohlega S, Barucha V, Hodgkinson C, Lach B, Boumah CE, Cupler EJ, Kambouris M, Meyer BF: Autosomal Dominant Hyaline Body Myopahty in a Saudi Family is Linked to Chromosome 14q. British Human Genetics Conference, 2002.
  • Kambouris M, Bohlega S, Trabzuni D, Meyer BF: Localization of the Gene for a Novel Autosomal Recessive Neuromuscular Disease Featuring Tremulous and Myoclonic Dystonia with MRI White Matter Alterations. American Journal of Human Genetics [Supplement ]71: 443, 2002
  • Hodgkinson CA, .Bohlega S, Abu-Amero SN, Kambouris M, Cupler E, Meyer BF , Bharucha VA: A Refined Interval for the Autosomal Recessive Nonsyndromic Deafness Locus DFNB6. American Journal of Human Genetics [Supplement] 71: 431, 2002.
  • The HRD/Sanjad-Sakati/Autosomal Recessive Kenny-Caffey Syndrome Consortium. Diaz GA, Al Aqeel A, Gelb BD, Gordon R, Gorodischer R, Gregory S, Grossman N, Hershkovitz E, Kambouris M, Khan KTS, Loeys B, Meyer BF, Mortier G, Parvari R, Sakati N, Sharony R, Weiner R, Zecic A Mutation of a Tubulin-Specific Chaperone, TBCE, Causes the HRD/Sanjad- Sakati/Autosomal Recessive Kenny-Caffey Syndrome. American Journal of Human Genetics [Supplement] 71: 209, 2002.