Ruth M. Liberfarb

Biochemistry, Genetics and Molecular Biology · Life Sciences

20h-index1.3kcitations35works0.02yr avg
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Research Topics

Connective tissue disorders research(16), Craniofacial Disorders and Treatments(8), Child Abuse and Related Trauma(5), Retinal and Macular Surgery(3), Ocular Disorders and Treatments(3)

Publications35 total

Facio-Oculo-Acoustico-Renal Syndrome
2015
Stickler syndrome: Clinical characteristics and diagnostic criteria
American Journal of Medical Genetics Part A·2005· 149 citedOpen Access
<scp>S</scp> tickler Syndrome
2005
The Stickler syndrome: Genotype/phenotype correlation in 10 families with Stickler syndrome resulting from seven mutations in the type II collagen gene locus COL2A1
Genetics in Medicine·2003· 104 citedOpen Access
The hip in Stickler syndrome.
Journal of Pediatric Orthopaedics·2001· 34 cited
The Hip in Stickler Syndrome
Journal of Pediatric Orthopaedics·2001· 26 cited
Auditory Dysfunction in Stickler Syndrome
Archives of Otolaryngology - Head and Neck Surgery·2001· 58 cited
Thoracolumbar Spinal Abnormalities in Stickler Syndrome
Spine·2001· 61 cited
Proposed diagnostic criteria for Stickler syndrome
2000· 3 cited
Rapid determination of COL2A1 mutations in individuals with Stickler syndrome: Analysis of potential premature termination codons
American Journal of Medical Genetics·2000· 23 cited
Unique Hereditary Serisory and Autonomic Neuropathy With Growth Hormone Deficiency
Journal of Child Neurology·1993· 13 cited
Distinctive Cataract in the Stickler Syndrome
American Journal of Ophthalmology·1990· 69 cited
Histopathology of the ears, eyes, and brain in norrie's disease (oculoacousticocerebral degeneration)
American Journal of Otolaryngology·1990· 23 cited
Usher's Syndrome: What It Is, How to Cope, and How to Help
Archives of Ophthalmology·1989· 2 cited
Norrie disease gene is distinct from the monoamine oxidase genes.
PubMed·1989· 32 cited
Contributors
Pathology and Immunopathology Research·1988Open Access
The Stickler Syndrome Is Closely Linked to COL2A1, the Structural Gene for Type II Collagen
Pathology and Immunopathology Research·1988· 47 cited
Preface
Pathology and Immunopathology Research·1988Open Access
Acknowledgements
Pathology and Immunopathology Research·1988
Stage 5 Retinopathy of Prematurity
Ophthalmology·1987· 38 cited
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Frequent Co-authors

Clair A. Francomano(13), David L. Rimoin(11), William A. Horton(9), Howard P. Levy(8), Tatsuo Hirose(7), Joie Davis(7), Roland D. Eavey(7), Peter S. Rose(6), Louann W. Murray(6), Paul F. Goetinck(6), Ronald R. Minor(6), Elizabeth A. Streeten(5), Reed E. Pyeritz(5), Deborah A. Meyers(4), Lewis B. Holmes(4), Takeshi Hirose(4), Daniel H. Cohn(4), Yvonne M. Szymko-Bennett(3), Andrew J. Griffith(3), Douglas J. Wilkin(3)