Clair Francomano
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Why Is Clair Francomano Influential?
(Suggest an Edit or Addition)According to Wikipedia, Clair A. Francomano is an American medical geneticist and academic specializing in Ehlers–Danlos syndromes. She is Professor of Medical and Molecular Genetics at Indiana University. Early life, education and training Clair Ann Francomano was born to Mrs. and Charles J. Francomano, a general practitioner. She attended Roosevelt High School in Yonkers, New York and participated in programs at the National Institutes of Health and the Jackson Laboratory in Bar Harbor, Maine as a high school student. She earned her undergraduate degree from Yale College in 1976, having returned as an undergraduate to the Jackson Laboratory to study cancer genetics on a National Science Foundation grant in 1973. She then earned her M.D. from Johns Hopkins School of Medicine in 1980. She trained at Hopkins in internal medicine and medical genetics.
Clair Francomano's Published Works
Number of citations in a given year to any of this author's works
Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author
Published Works
- Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene (1991) (1930)
- The 2017 international classification of the Ehlers–Danlos syndromes (2017) (1016)
- Achondroplasia is defined by recurrent G380R mutations of FGFR3. (1995) (443)
- A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia (1995) (437)
- A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome. (1997) (362)
- Mutations in exon 17B of cartilage oligomeric matrix protein (COMP) cause pseudoachondroplasia (1995) (359)
- Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis (1999) (332)
- Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes (1996) (318)
- The molecular and genetic basis of fibroblast growth factor receptor 3 disorders: the achondroplasia family of skeletal dysplasias, Muenke craniosynostosis, and Crouzon syndrome with acanthosis nigricans. (2000) (317)
- Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis (2000) (309)
- A novel nemaline myopathy in the Amish caused by a mutation in troponin T1. (2000) (296)
- Four novel FBN1 mutations: significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome. (1993) (291)
- Career development for women in academic medicine: Multiple interventions in a department of medicine. (1996) (288)
- A type X collagen mutation causes Schmid metaphyseal chondrodysplasia (1993) (242)
- Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic amplicons. (1995) (236)
- Mutations in fibroblast growth-factor receptor 3 in sporadic cases of achondroplasia occur exclusively on the paternally derived chromosome. (1998) (215)
- Genetic heterogeneity in families with hereditary multiple exostoses. (1993) (207)
- A neonatal lethal mutation in FGFR3 uncouples proliferation and differentiation of growth plate chondrocytes in embryos. (2000) (205)
- The Marfan syndrome locus: confirmation of assignment to chromosome 15 and identification of tightly linked markers at 15q15-q21.3. (1991) (191)
- Syndrome of occipitoatlantoaxial hypermobility, cranial settling, and chiari malformation type I in patients with hereditary disorders of connective tissue. (2007) (190)
- Structural and functional mutations of the perlecan gene cause Schwartz-Jampel syndrome, with myotonic myopathy and chondrodysplasia. (2002) (170)
- The Stickler syndrome: evidence for close linkage to the structural gene for type II collagen. (1987) (166)
- Distinct missense mutations of the FGFR3 lys650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia phenotype. (2000) (163)
- A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 gene. (1999) (153)
- Mortality in achondroplasia. (1987) (152)
- The effects of pulsed low-intensity ultrasound on chondrocyte viability, proliferation, gene expression and matrix production. (2003) (148)
- Mutation analysis of LMX1B gene in nail-patella syndrome patients. (1998) (147)
- Hyaline cartilage engineered by chondrocytes in pellet culture: histological, immunohistochemical and ultrastructural analysis in comparison with cartilage explants (2004) (141)
- Marfan phenotype variability in a family segregating a missense mutation in the epidermal growth factor-like motif of the fibrillin gene. (1992) (139)
- Prevalence of aortic root dilation in the Ehlers-Danlos syndrome (2002) (122)
- Neurological and spinal manifestations of the Ehlers–Danlos syndromes (2017) (122)
- Stickler syndrome: Clinical characteristics and diagnostic criteria (2005) (121)
- Highly activated Fgfr3 with the K644M mutation causes prolonged survival in severe dwarf mice. (2001) (121)
- Clustering of fibrillin (FBN1) missense mutations in Marfan syndrome patients at cysteine residues in EGF‐like domains (1992) (120)
- The gene for the Ellis-van Creveld syndrome is located on chromosome 4p16. (1996) (110)
- Ehlers–Danlos syndrome, classical type (2017) (108)
- Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN): phenotypic analysis of a new skeletal dysplasia caused by a Lys650Met mutation in fibroblast growth factor receptor 3. (1999) (105)
- Pain management in the Ehlers–Danlos syndromes (2017) (102)
- Association of Chiari malformation type I and tethered cord syndrome: preliminary results of sectioning filum terminale. (2009) (101)
- Bi-allelic Alterations in AEBP1 Lead to Defective Collagen Assembly and Connective Tissue Structure Resulting in a Variant of Ehlers-Danlos Syndrome. (2018) (91)
- Multiple molecular mechanisms underlying subdiagnostic variants of Marfan syndrome. (1998) (85)
- The mutational spectrum of brachydactyly type C. (2002) (83)
- Atopy and bronchial hyperresponsiveness: exclusion of linkage to markers on chromosomes 11q and 6p (1992) (82)
- The Stickler syndrome: Genotype/phenotype correlation in 10 families with Stickler syndrome resulting from seven mutations in the type II collagen gene locus COL2A1 (2003) (81)
- Dextromethorphan and high-dose benzoate therapy for nonketotic hyperglycinemia in an infant. (1992) (81)
- Echocardiographic findings in classical and hypermobile Ehlers–Danlos syndromes (2006) (81)
- The influence of pulsed low-intensity ultrasound on matrix production of chondrocytes at different stages of differentiation: an explant study. (2002) (78)
- Conservation of the Caenorhabditis elegans timing gene clk-1 from yeast to human: a gene required for ubiquinone biosynthesis with potential implications for aging (1999) (78)
- Localization of the achondroplasia gene to the distal 2.5 Mb of human chromosome 4p. (1994) (77)
- The Ehlers–Danlos syndromes (2020) (77)
- Therapeutic approaches to cobalamin-C methylmalonic acidemia and homocystinuria. (1988) (72)
- Molecular Genetic Analysis in Autosomal Dominant Keratoconus (1992) (71)
- Craniocervical decompression for cervicomedullary compression in pediatric patients with achondroplasia. (1990) (69)
- Clinical and biochemical profiles suggest fibromuscular dysplasia is a systemic disease with altered TGF‐β expression and connective tissue features (2014) (67)
- High-resolution linkage-disequilibrium mapping of the cartilage-hair hypoplasia gene. (1994) (64)
- Small deletions in the type II collagen triple helix produce kniest dysplasia. (1999) (63)
- Postural tachycardia syndrome and other forms of orthostatic intolerance in Ehlers-Danlos syndrome (2018) (60)
- Sleep-disordered breathing in children with achondroplasia. (1998) (58)
- Marfan syndrome: no evidence for heterogeneity in different populations, and more precise mapping of the gene. (1991) (56)
- Identification of nine novel mutations in cartilage oligomeric matrix protein in patients with pseudoachondroplasia and multiple epiphyseal dysplasia. (1999) (56)
- Additional mutations of type X collagen confirm COL10A1 as the Schmid metaphyseal chondrodysplasia locus. (1994) (55)
- The genetic basis of dwarfism. (1995) (54)
- A Skeletal Gene Database (2000) (54)
- A study of linkage and association of body mass index in the old order Amish (2003) (54)
- Mutations of CTSK Result in Pycnodysostosis via a Reduction in Cathepsin K Protein (1999) (53)
- Jeune asphyxiating thoracic dystrophy and short-rib polydactyly type III (Verma-Naumoff) are variants of the same disorder. (2000) (53)
- The international consortium on the Ehlers–Danlos syndromes (2017) (52)
- Auditory dysfunction in Stickler syndrome. (2001) (52)
- The gene for pycnodysostosis maps to human chromosome 1cen–q21 (1995) (52)
- Concentration of mutations causing schmid metaphyseal chondrodysplasia in the C‐terminal noncollagenous domain of type X collagen (1995) (52)
- Gene expression profile of human bone marrow stromal cells: high-throughput expressed sequence tag sequencing analysis. (2002) (51)
- Thoracolumbar Spinal Abnormalities in Stickler Syndrome (2001) (51)
- Linkage of typical pseudoachondroplasia to chromosome 19. (1993) (51)
- Fine mapping of the nail-patella syndrome locus at 9q34. (1997) (51)
- The question of heterogeneity in Marfan syndrome (1995) (48)
- Genetic and physical mapping of the McKusick-Kaufman syndrome. (1998) (47)
- The major mutation in the RMRP gene causing CHH among the Amish is the same as that found in most Finnish cases (2003) (44)
- A comparison of the Berlin and Ghent nosologies and the influence of dural ectasia in the diagnosis of Marfan syndrome (2000) (44)
- Identification of a mutation in liver glycogen phosphorylase in glycogen storage disease type VI. (1998) (42)
- Bone dysplasias in man: molecular insights. (1996) (40)
- The Hip in Stickler Syndrome (2001) (40)
- Localization of the gene (SYM1) for proximal symphalangism to human chromosome 17q21-q22. (1995) (39)
- Characterization of the human extracellular matrix protein 1 gene on chromosome 1q21. (1997) (38)
- Growth and integration of neocartilage with native cartilage in vitro (2005) (37)
- Medical genetic studies in the Amish: Historical perspective (2003) (35)
- Living with achondroplasia: Quality of life evaluation following cervico‐medullary decompression (2004) (35)
- High-resolution genetic mapping of the cartilage-hair hypoplasia (CHH) gene in Amish and Finnish families. (1994) (33)
- A central nervous system specific mouse model for thanatophoric dysplasia type II. (2003) (32)
- COL5A1: fine genetic mapping and exclusion as candidate gene in families with nail-patella syndrome, tuberous sclerosis 1, hereditary hemorrhagic telangiectasia, and Ehlers-Danlos Syndrome type II. (1995) (32)
- An exclusion map of Marfan syndrome. (1990) (32)
- Comparison of gene expression profile between human chondrons and chondrocytes: a cDNA microarray study. (2006) (32)
- Genetics in Clinical Practice: New Directions for Nursing and Health Care (1998) (31)
- Consensus clinical management guidelines for Alström syndrome (2020) (30)
- Immunologic studies of cartilage-hair hypoplasia in the Amish. (1981) (29)
- Issues surrounding prenatal genetic testing for achondroplasia (2002) (27)
- Factors affecting quality of life in children and adolescents with hypermobile Ehlers‐Danlos syndrome/hypermobility spectrum disorders (2019) (27)
- Case 47: dural ectasia associated with Marfan syndrome. (2002) (26)
- Cervical medullary syndrome secondary to craniocervical instability and ventral brainstem compression in hereditary hypermobility connective tissue disorders: 5-year follow-up after craniocervical reduction, fusion, and stabilization (2019) (26)
- The Stickler syndrome is closely linked to COL2A1, the structural gene for type II collagen. (1988) (25)
- Characteristics, Diagnosis, and Management of Ehlers-Danlos Syndromes: A Review (2017) (25)
- Report from the Maryland Epidemiology Schizophrenia Linkage Study: no evidence for linkage between schizophrenia and a number of candidate and other genomic regions using a complex dominant model. (1994) (25)
- Prevalence of hypermobile Ehlers-Danlos syndrome in postural orthostatic tachycardia syndrome (2020) (25)
- Key role for a minor collagen (1995) (23)
- Marfan syndrome: exclusion of genetic linkage to three major collagen genes. (1988) (23)
- Rapid determination of COL2A1 mutations in individuals with Stickler syndrome: analysis of potential premature termination codons. (2000) (22)
- Analysis of the chondroitin sulfate proteoglycan core protein (CSPGCP) gene in achondroplasia and pseudoachondroplasia. (1991) (21)
- Clinico-pathogenetic findings and management of chondrodystrophic myotonia (Schwartz-Jampel syndrome): a case report (2003) (21)
- Macrorestriction mapping of COL4A1 and COL4A2 collagen genes on human chromosome 13q34. (1988) (20)
- Resistance to local anesthesia in people with the Ehlers-Danlos Syndromes presenting for dental surgery (2019) (19)
- Pseudoxanthoma elasticum: treatment of gastrointestinal hemorrhage by arterial embolization and observations on autosomal dominant inheritance. (1980) (18)
- DNA analysis in genetic disorders. (1986) (18)
- Klotho gene variation and expression in 20 inbred mouse strains (2004) (17)
- Brachydactyly type C gene maps to human chromsome 12q24. (1996) (16)
- Progress in medical genetics: map-based gene discovery and the molecular pathology of skeletal dysplasias. (1996) (16)
- The COL6A1 and COL6A2 genes exist as a gene cluster and detect highly informative DNA polymorphisms in the telomeric region of human chromosome 21q (1991) (15)
- Severe hypodontia and oral xanthomas in Alagille syndrome. (2000) (15)
- Presymptomatic direct detection of adenomatous polyposis coli (APC) gene mutations in familial adenomatous polyposis (1993) (14)
- Use of prescription opioid and other drugs among a cohort of persons with Ehlers–Danlos syndrome: A retrospective study (2019) (14)
- Heritable disorders of connective tissue: Description of a data repository and initial cohort characterization (2019) (14)
- Exclusion of the MSX1 homeobox gene as the gene for the Ellis van Creveld syndrome in the Amish (1996) (13)
- Confirmatory linkage of hypochondroplasia to chromosome arm 4p. (1995) (11)
- Defining renal phenotype in Alström syndrome. (2018) (11)
- Exclusion of human proteoglycan link protein (CRTL1) and type II collagen (COL2A1) genes in pseudoachondroplasia. (1992) (11)
- Achondropiasia is not caused by mutation in the gene for type II collagen (1988) (10)
- Substitution of a cysteine residue in a non-calcium binding, EGF-like domain of fibrillin segregates with the Marfan syndrome in a large kindred. (1994) (10)
- Pain and sleep quality in children with non‐vascular Ehlers–Danlos syndromes (2018) (10)
- Partial structure of the human α2(IV) collagen chain and chromosomal localization of the gene (COL4A2) (1987) (9)
- Atlanto-axial rotary instability (Fielding type 1): characteristic clinical and radiological findings, and treatment outcomes following alignment, fusion, and stabilization (2020) (9)
- Use of Cluster Analysis to Delineate Symptom Profiles in Ehlers-Danlos Syndrome Patient Population. (2019) (9)
- Patients with Ehlers–Danlos syndrome on the diagnostic odyssey: Rethinking complexity and difficulty as a hero's journey (2021) (9)
- Comprehensive resource: Skeletal gene database. (2001) (8)
- Fibroblast Growth Factor Receptor-Related Skeletal Disorders (1998) (8)
- Initial description and evaluation of EDS ECHO: An international effort to improve care for people with the Ehlers‐Danlos syndromes and hypermobility spectrum disorders (2021) (7)
- Arterial Elasticity in Ehlers-Danlos Syndromes (2020) (7)
- Physical mapping of the nail patella syndrome interval at 9q34: ordering of STSs and ESTs (1998) (7)
- Achondroplasia is not caused by mutation in the gene for type II collagen. (1988) (7)
- Gastrointestinal medication burden among persons with the Ehlers‐Danlos syndromes (2021) (6)
- Survey of Ehlers‒Danlos Patients’ ophthalmic surgery experiences (2020) (6)
- Complementary medicine and genetic medicine: polar disciplines or dynamic partners? (2005) (6)
- Ehlers-Danlos syndromes, hypermobility spectrum disorders, and associated co-morbidities: Reports from EDS ECHO. (2021) (5)
- Proposed diagnostic criteria for Stickler syndrome (2000) (5)
- Victor McKusick and the History of Medical Genetics (2012) (5)
- Molecular genetic studies in achondroplasia. (1988) (5)
- Minocycline-induced generalized postinflammatory elastolysis. (2000) (5)
- Refractory Syncope and Pre-syncope Associated with Atlanto-axial Instability: Preliminary Evidence of Improvement Following Surgical Stabilization. (2021) (4)
- Skeletal Dysplasias: Craniosynostosis Syndromes and Skeletal Dysplasias Caused by Mutations in Fibroblast Growth Factor Receptor Genes (2003) (4)
- Classical Ehlers-Danlos syndrome (2020) (4)
- Victor A. McKusick and Medical Genetics Among the Amish (2012) (4)
- Aortic root dilatation complicates Ehlers-Danlos syndrome (2000) (3)
- 0924 Nighttime Sleep and Daytime Functioning in Ehlers-Danlos Syndrome: A Cohort Study of Syndrome Subtypes (2018) (3)
- FGFR3 Mutations K650N and K650Q Cause Hypochondroplasia (2000) (3)
- Combination of common mtDNA variants results in mitochondrial dysfunction and a connective tissue dysregulation (2022) (2)
- Hereditary alpha-tryptasemia modifies clinical phenotypes among individuals with congenital hypermobility disorders (2022) (2)
- The power of patient‐led global collaboration (2021) (2)
- GENETIC LINKAGE STUDIES IN THE MARFAN SYNDROME (1984) (2)
- Victor Almon McKusick: In the footsteps of Mendel and Osler (2021) (2)
- Frequency and co-occurrence of comorbidities in the Ehlers-Danlos syndromes (2021) (2)
- Respiratory manifestations in the Ehlers–Danlos syndromes (2021) (2)
- Erratum: The influence of pulsed low-intensity ultrasound on matrix production of chondrocytes at different stages of differentiation: An explant study (Ultrasound in Medicine and Biology (2002) 28 (1547-1553)) (2003) (2)
- Incidence and severity of pain in Stickler and Ehlers-Danlos syndromes (2000) (2)
- P084 EDS ECHO: virtual case based learning in the assessment and management of Ehlers-Danlos syndrome and hypermobility spectrum disorders (2021) (2)
- Approaches to the Diagnosis of Renal Genetic Disorders Using DNA Analysis (1990) (2)
- Longitudinal analysis of symptoms in the Ehlers‐Danlos syndromes (2022) (1)
- Dr. Victor A. McKusick and the Genetics of Dwarfism (2012) (1)
- Prescription Claims for Immunomodulator and Antiinflammatory Drugs Among Persons With Ehlers‐Danlos Syndromes (2021) (1)
- Gene expression profiling of human bone marrow stromal cells with FGFR-3 mutation (K650M) using cDNA microarrays (1999) (1)
- A comparison of the Berlin and Gent Nosologies in the diagnosis of Marfan syndrome: the NIH experience (2000) (1)
- Evolving attitudes toward numeric pain assessment among patients with hypermobile Ehlers-Danlos Syndrome: A qualitative interview study. (2022) (1)
- A case–control study of respiratory medication and co‐occurring gastrointestinal prescription burden among persons with Ehlers–Danlos syndromes (2021) (1)
- RESPIRATORY PROBLEMS IN ACHONDROPLASIA (1984) (1)
- Latest developments in skeletal dysplasias (2001) (1)
- Patient-Reported Outcomes Following Sectioning of the Filum Terminale for Treatment of Tethered Cord Syndrome Associated With Ehlers-Danlos Syndrome (2022) (0)
- Chiari I Malformations and the Heritable Disorders of Connective Tissue. (2023) (0)
- Comorbidity, misdiagnoses, and the diagnostic odyssey in patients with hypermobile Ehlers-Danlos Syndrome (2023) (0)
- Victor McKusick and the development of medical genetics (2012) (0)
- STICKLER SYNDROME (2020) (0)
- Sa1491: GASTRODUODENAL DYSMOTILITY IN ADULT PATIENTS WITH EHLERSDANLOS SYNDROME (EDS) WITH UPPER GASTROINTESTINAL COMPLAINTS: ASSOCIATION WITH DYSAUTONOMIA AND QUALITY OF LIFE (2022) (0)
- Occipito-atlanto-axial Hypermobility : Clinical Features and Dynamic Analysis of Cranial Settling and Posterior Gliding of Occipital Condyle : Part 2 : Findings in Patients with Post-traumatic Condition (2009) (0)
- POSTER SESSION III (1984) (0)
- Respiratory Prescription Claims Among Persons with Ehlers-Danlos Syndromes Over Multiple Time Intervals (2021) (0)
- Recommendations for national and local regulatory authorities concerning research in aenetic markers of disease : Genetics of coronary heart disease: Current understanding and future prospects (2000) (0)
- Agreement between parent-proxy and child self-report in pediatric hypermobile Ehlers-Danlos syndrome. (2022) (0)
- P168: Nutritional markers of histamine intolerance in Ehlers-Danlos syndromes (2023) (0)
- Neurological and Spinal Manifestations of EDS for Non-experts (2018) (0)
- Occipito-atlanto-axial Hypermobility : Clinical Features and Dynamic Analysis of Cranial Settling and Posterior Gliding of Occipital Condyle : Part 1 : Findings in Patients with Hereditary Disorders of Connective Tissue and Ehlers-Danlos Syndrome (2009) (0)
- Prescription claims among persons with Ehlers-Danlos syndromes for drugs for cardiovascular autonomic dysfunction (2021) (0)
- Diagnostic approaches to renal genetic disorders using DNA analysis (2004) (0)
- CHALLENGES FOR JUNIOR FACULTY : MENTORING AND FAMILY. AUTHORS' REPLY (1996) (0)
- Clinical and biochemical profiles suggest fibromuscular dysplasia is a systemic disease with altered TGF- (cid:2) expression and connective tissue features (2014) (0)
- Prescription claims for immunomodulator and anti-inflammatory medications among persons with Ehlers-Danlos syndromes (2021) (0)
- Letter to the editor regarding “Atlantoaxial dislocation due to os odontoideum in patients with Down’s syndrome: literature review and case reports” (2020) (0)
- Proximal symphalangism: Evidence of linkage to 17q (1994) (0)
- We reported the clinical features of patients with hereditary disorders of connective tissue(HDCT) and Ehlers-Danlos syndromes(EDS)and a subset of patients with HDCT・EDS in which varying degrees of craniocer- (2016) (0)
- CERVICAL CORD COMPRESSION IN ACHONDROPLASIA (1984) (0)
- Comprehensive resource: Skeletal gene database#This article is a US Government work and, as such, is in the public domain in the United States of America. (2001) (0)
- 211 – Skeletal dysplasias (2015) (0)
- The long road to rare disease diagnosis: a hero’s journey (2021) (0)
- Novel mtDNA Imparts the Connective Tissue Disorder of a Tourette Pedigree (2022) (0)
- Clinician-associated traumatization from difficult medical encounters: Results from a qualitative interview study on the Ehlers-Danlos Syndromes (2023) (0)
- Increased Co-Occurring Prescriptions of Gastrointestinal and Respiratory Drugs Among Persons with Ehlers-Danlos Syndromes (2021) (0)
- Challenges for Junior Faculty: Mentoring and Family-Reply (1996) (0)
- Mutations in the fibrillin gene and variability of the Marfan syndrome (1992) (0)
- Tethered Cord Syndrome : Preliminary Report of Clinical Features and Morphometric Analysis on Association of Chiari Malformation Type I (2009) (0)
- Recommendations for national and local regulatory authorities concerning research in genetic markers of disease. (2000) (0)
- Latest developments in skeletal dysplasias#This article is a US Government work and, as such, is in the public domain in the United States of America. (2001) (0)
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Clair Francomano is affiliated with the following schools:
