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S Blanton

Research Profile

Concepts & Ideas

Procedures

Genes & Molecular Sequences

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Hispanic Americans

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Chromosomes, Human, Pair 8

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Kemal O Yariz; Juan I. Young; Suna Tokgoz-Yilmaz; Semra Atalay; S Blanton; Zheng-Yi Chen; Julia Dallman; Alexandra A Desmidt; Oscar Diaz-Horta; Duygu Duman; Yvonne Jemimah Edwards; Lisette Hetterschijt; Mingqian Huang; Moien Kanaan; Ozlem Konukseven; Hannie Kremer; Huawei Li; Xue-Zhong Liu; Na Lu; Zhongmin Lu; Anne M M Oonk; Jaap Oostrik; Ronald J E Pennings; Theo A Peters; Margit Schraders; Celia Zazo Seco; Hashem Shahin; Asli Sirmaci; Isaac Skromne; Mustafa Tekin
Mutations in OTOGL, encoding the inner ear protein otogelin-like, cause moderate sensorineural hearing loss.
David Della Morte; Chuanhui Dong; Susanne Bartels; S Blanton; Digna Cabral; Ralph L Sacco; Tatjana Rundek
Association of the sirtuin and mitochondrial uncoupling protein genes with carotid intima-media thickness.
Ariadne Letra; Luise G Motta; Renato M Silva; S Blanton; Jose M Granjeirol; Jacqueline T Hecht; Alexandre R Vieira
Association of MMP3 and TIMP2 promoter polymorphisms with nonsyndromic oral clefts.

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All Publications

2012: Kemal O Yariz; Juan I. Young; Suna Tokgoz-Yilmaz; Semra Atalay; S Blanton; Zheng-Yi Chen; Julia Dallman; Alexandra A Desmidt; Oscar Diaz-Horta; Duygu Duman; Yvonne Jemimah Edwards; Lisette Hetterschijt; Mingqian Huang; Moien Kanaan; Ozlem Konukseven; Hannie Kremer; Huawei Li; Xue-Zhong Liu; Na Lu; Zhongmin Lu; Anne M M Oonk; Jaap Oostrik; Ronald J E Pennings; Theo A Peters; Margit Schraders; Celia Zazo Seco; Hashem Shahin; Asli Sirmaci; Isaac Skromne; Mustafa Tekin
Mutations in OTOGL, encoding the inner ear protein otogelin-like, cause moderate sensorineural hearing loss.
American journal of human genetics 2012;91(5):872-82.
2012: David Della Morte; Chuanhui Dong; Susanne Bartels; S Blanton; Digna Cabral; Ralph L Sacco; Tatjana Rundek
Association of the sirtuin and mitochondrial uncoupling protein genes with carotid intima-media thickness.
Translational research : the journal of laboratory and clinical medicine 2012;160(5):389-90.
2012: Ariadne Letra; Luise G Motta; Renato M Silva; S Blanton; Jose M Granjeirol; Jacqueline T Hecht; Alexandre R Vieira
Association of MMP3 and TIMP2 promoter polymorphisms with nonsyndromic oral clefts.
Birth defects research. Part A, Clinical and molecular teratology 2012;94(7):540-8.
2012: W Lu; B S Richards; N Sikka; J E VanderMeer; M Vella; Nadav Ahituv; C Alvarez; C A Bacino; S Blanton; F R Dietz; Jacqueline T Hecht
Studies of TBX4 and chromosome 17q23.1q23.2: an uncommon cause of nonsyndromic clubfoot.
American journal of medical genetics. Part A 2012;158A(7):1620-7.
2012: Frank Kuo; Ralph L Sacco; S Blanton; Digna Cabral; David Della Morte; Chuanhui Dong; Mitchell S V Elkind; Hannah Gardener; Tatjana Rundek
Traditional cardiovascular risk factors explain the minority of the variability in carotid plaque.
Stroke; a journal of cerebral circulation 2012;43(7):1755-60.
2012: Chuanhui Dong; Tatjana Rundek; Ashley Beecham; S Blanton; Liyong Wang; Ralph L Sacco
Follow-up association study of linkage regions reveals multiple candidate genes for carotid plaque in Dominicans.
Atherosclerosis 2012;223(1):177-83.
2012: Ariadne Letra; K Liu; Jorge S Lopez-Camelo; L Ma; Mary L Marazita; J C Mereb; Iêda M Orioli; Fernando A Poletta; B Bjork; S Blanton; Eduardo E Castilla; M E Cooper; A E Czeizel; F W B Deleyiannis; L L Field; Gustavo P Garlet; J T Hecht; H Szabo-Rogers; Alexandre R Vieira; Steven K Wendell; R M Silva
Association of AXIN2 with non-syndromic oral clefts in multiple populations.
Journal of dental research 2012;91(5):473-8.
2012: Liyong Wang; Degen Zhuo; Ashley Beecham; S Blanton; Chuanhui Dong; Tatjana Rundek; Ralph L Sacco
Fine mapping study reveals novel candidate genes for carotid intima-media thickness in Dominican Republican families.
Circulation. Cardiovascular genetics 2012;5(2):234-41.
2012: Oscar Diaz-Horta; Duygu Duman; Yvonne Jemimah Edwards; Joseph Foster; Nikou Fotouhi; Michael Gonzalez; Nejat Mahdieh; Ibis Menendez; Aslı Sırmacı; S Blanton; Mortaza Bonyadi; Filiz Basak Cengiz; Rick H Ulloa; Stephan Zuchner; Mustafa Tekin
Whole-exome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing loss.
PloS one 2012;7(11):e50628.
2011: Sara J Bowne; Matthew Campbell; Stephen P Daiger; Li Ding; G Jane Farrar; Robert S Fulton; Marian Humphries; Paul F Kenna; Anna S Kiang; Daniel C Koboldt; Ioanna Konidari; Alex McKee; Sophia Millington-Ward; Arpad Palfi; Susan Slifer; Erica Sodergren; Lori S Sullivan; Lawrence C S Tam; George M Weinstock; Denis Allman; S Blanton; Peter Humphries
A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement.
European journal of human genetics : EJHG 2011;19(10):1074-81.
2011: Katelyn S Weymouth; Laura E Mitchell; Steve Richards; Christine Alvarez; Michael J Bamshad; Douglas Barnes; Anita E Beck; S Blanton; Matthew B Dobbs; Christina A Gurnett; Jacqueline T Hecht
Variants in genes that encode muscle contractile proteins influence risk for isolated clubfoot.
American journal of medical genetics. Part A 2011;155A(9):2170-9.
2011: Asli Sirmaci; Michail Spiliopoulos; Juan I. Young; Stephan Zuchner; Alex Abrams; Emanuele Agolini; Guney Bademci; S Blanton; Francesco Brancati; Bruno Dallapiccola; Maria Christina Digilio; Duygu Duman; Shengru Guo; Asli Kavaz; Berrin Konuk; Eric Powell; Mustafa Tekin
Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia.
American journal of human genetics 2011;89(2):289-94.
2011: Chuanhui Dong; Tatjana Rundek; Ashley Beecham; S Blanton; Susan Slifer; Liyong Wang; Clinton Wright; Ralph L Sacco
Genetic loci for blood lipid levels identified by linkage and association analyses in Caribbean Hispanics.
Journal of lipid research 2011;52(7):1411-9.
2011: Qiuping Yuan; S Blanton; Jacqueline T Hecht
Association of ABCA4 and MAFB with non-syndromic cleft lip with or without cleft palate.
American journal of medical genetics. Part A 2011;155A(6):1469-71.
2011: Kelley M Dodson; S Blanton; Katherine O Welch; Virginia W Norris; Regina L Nuzzo; Jacob A Wegelin; Ruth S Marin; Walter E Nance; Arti Pandya; Kathleen S Arnos
Vestibular dysfunction in DFNB1 deafness.
American journal of medical genetics. Part A 2011;155A(5):993-1000.
2011: Hannah Gardener; Ashley Beecham; Digna Cabral; Danielle Yanuck; Susan Slifer; Liyong Wang; S Blanton; Ralph L Sacco; Suh-Hang Hank Juo; Tatjana Rundek
Carotid plaque and candidate genes related to inflammation and endothelial function in Hispanics from northern Manhattan.
Stroke; a journal of cerebral circulation 2011;42(4):889-96.
2011: Liyong Wang; Danielle Yanuck; Ashley Beecham; Hannah Gardener; Susan Slifer; S Blanton; Ralph L Sacco; Tatjana Rundek
A candidate gene study revealed sex-specific association between the OLR1 gene and carotid plaque.
Stroke; a journal of cerebral circulation 2011;42(3):588-92.
2011: Stephan Zuchner; Julia Dallman; Rong Wen; Gary Beecham; Adam Naj; Amjad Farooq; Martin A Kohli; Patrice L Whitehead; William F Hulme; Ioanna Konidari; Yvonne Jemimah Edwards; Guiqing Cai; Inga Peter; David Seo; Joseph Buxbaum; Jonathan L Haines; S Blanton; Juan I. Young; Eduardo C Alfonso; Jeffery Vance; Byron Lam; Margaret A Peričak-Vance
Whole-exome sequencing links a variant in DHDDS to retinitis pigmentosa.
American journal of human genetics 2011;88(2):201-6.
2011: Chuanhui Dong; Ashley Beecham; Susan Slifer; Liyong Wang; Mark S McClendon; S Blanton; Tatjana Rundek; Ralph L Sacco
Genome-wide linkage and peak-wide association study of obesity-related quantitative traits in Caribbean Hispanics.
Human genetics 2011;129(2):209-19.
2011: Chuanhui Dong; Corneliu C Luca; Mark S McClendon; Ashley Beecham; S Blanton; Digna Cabral; David Della Morte; Ralph L Sacco; Liyong Wang; Tatjana Rundek
Association of the sirtuin and mitochondrial uncoupling protein genes with carotid plaque.
PloS one 2011;6(11):e27157.
2011: David Della Morte; Marco R Di Tullio; Mark S McClendon; Tatjana Rundek; Ashley Beecham; S Blanton; Susan Slifer; Liyong Wang; Ralph L Sacco
A follow-up study for left ventricular mass on chromosome 12p11 identifies potential candidate genes.
BMC medical genetics 2011;12():100.
2011: Qiuping Yuan; S Blanton; Jacqueline T Hecht
Genetic causes of nonsyndromic cleft lip with or without cleft palate.
Advances in oto-rhino-laryngology 2011;70():107-13.
2011: S Blanton; Robin R Henry; Quiping Yuan; John B Mulliken; Samuel Stal; Richard H Finnell; Jacqueline T Hecht
Folate pathway and nonsyndromic cleft lip and palate.
Birth defects research. Part A, Clinical and molecular teratology 2011;91(1):50-60.
2011: Brett T Chiquet; Robin Henry; Amber Burt; John B Mulliken; Samuel Stal; S Blanton; Jacqueline T Hecht
Nonsyndromic cleft lip and palate: CRISPLD genes and the folate gene pathway connection.
Birth defects research. Part A, Clinical and molecular teratology 2011;91(1):44-9.
2011: Amy Sommer; S Blanton; Katelyn Weymouth; Christine Alvarez; B Stephen Richards; Douglas Barnes; Jacqueline T Hecht
Smoking, the xenobiotic pathway, and clubfoot.
Birth defects research. Part A, Clinical and molecular teratology 2011;91(1):20-8.
2010: Chuanhui Dong; Ashley Beecham; Susan Slifer; Liyong Wang; S Blanton; Clinton Wright; Tatjana Rundek; Ralph L Sacco
Genomewide linkage and peakwide association analyses of carotid plaque in Caribbean Hispanics.
Stroke; a journal of cerebral circulation 2010;41(12):2750-6.
2010: S Blanton; Amber Burt; Elizabeth Garcia; John B Mulliken; Samuel Stal; Jacqueline T Hecht
Ethnic Heterogeneity of IRF6 AP-2a Binding Site Promoter SNP Association With Nonsyndromic Cleft Lip and Palate.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association 2010;47(6):574-7.
2010: Arun Kumar; Maheswara R Duvvari; Venkatesh C Prabhakaran; Jyoti S Shetty; Gowri J Murthy; S Blanton
A homozygous mutation in LTBP2 causes isolated microspherophakia.
Human genetics 2010;128(4):365-71.
2010: Carol A Christianson; Karen Potter Powell; Susan Estabrooks Hahn; Deborah Bartz; Tiese Roxbury; S Blanton; Jeffery Vance; Margaret Pericak-Vance; Joseph Telfair; Vincent C Henrich
Findings from a community education needs assessment to facilitate the integration of genomic medicine into primary care.
Genetics in medicine : official journal of the American College of Medical Genetics 2010;12(9):587-93.
2010: Liyong Wang; Marco R Di Tullio; Ashley Beecham; Susan Slifer; Tatjana Rundek; Shunichi Homma; S Blanton; Ralph L Sacco
A comprehensive genetic study on left atrium size in Caribbean Hispanics identifies potential candidate genes in 17p10.
Circulation. Cardiovascular genetics 2010;3(4):386-92.
2010: David Della-Morte; Ashley Beecham; Tatjana Rundek; Susan Slifer; Bernadette Boden-Albala; Mark S McClendon; S Blanton; Ralph L Sacco
Genetic linkage of serum homocysteine in Dominican families: the Family Study of Stroke Risk and Carotid Atherosclerosis.
Stroke; a journal of cerebral circulation 2010;41(7):1356-62.
2010: Asli Sirmaci; Seyra Erbek; Justin Price; Mingqian Huang; Duygu Duman; Filiz Basak Cengiz; Güney Bademci; Suna Tokgöz-Yilmaz; Burcu Hişmi; Hilal Ozdağ; Banu Oztürk; Sevsen Kulaksizoğlu; Erkan Yildirim; Haris Kokotas; Maria Grigoriadou; Michael B Petersen; Hashem Shahin; Moien Kanaan; Mary-Claire King; Zheng-Yi Chen; S Blanton; Xue Zhong Liu; Stephan Zuchner; Nejat Akar; Mustafa Tekin
A truncating mutation in SERPINB6 is associated with autosomal-recessive nonsyndromic sensorineural hearing loss.
American journal of human genetics 2010;86(5):797-804.
2010: S Blanton; Amber Burt; Samuel Stal; John B Mulliken; Elizabeth Garcia; Jacqueline T Hecht
Family-based study shows heterogeneity of a susceptibility locus on chromosome 8q24 for nonsyndromic cleft lip and palate.
Birth defects research. Part A, Clinical and molecular teratology 2010;88(4):256-9.
2010: S Blanton; Walter E Nance; Virginia W Norris; Katherine O Welch; Amber Burt; Arti Pandya; Kathleen S Arnos
Fitness among individuals with early childhood deafness: Studies in alumni families from Gallaudet University.
Annals of human genetics 2010;74(1):27-33.
2010: S Hahn; S Letvak; K Powell; C Christianson; Douglas C Wallace; M Speer; P Lietz; S Blanton; Jeffery Vance; Margaret Pericak-Vance; V C Henrich
A Community's Awareness and Perceptions of Genomic Medicine.
Public health genomics 2010;13(2):63-71.
2009: Audrey R Ester; Katelyn S Weymouth; Amber Burt; Carol A Wise; Allison Scott; Christina A Gurnett; Matthew B Dobbs; S Blanton; Jacqueline T Hecht
Altered transmission of HOX and apoptotic SNPs identify a potential common pathway for clubfoot.
American journal of medical genetics. Part A 2009;149A(12):2745-52.
2009: Ralph L Sacco; S Blanton; Susan Slifer; Ashley Beecham; Khaleelah Glover; Hannah Gardener; Liyong Wang; Edison Sabala; Suh-Hang Hank Juo; Tatjana Rundek
Heritability and linkage analysis for carotid intima-media thickness: the family study of stroke risk and carotid atherosclerosis.
Stroke; a journal of cerebral circulation 2009;40(7):2307-12.
2009: Arun Kumar; Satish Girimaji; Mahesh R Duvvari; S Blanton
Mutations in STIL, encoding a pericentriolar and centrosomal protein, cause primary microcephaly.
American journal of human genetics 2009;84(2):286-90.
2009: Brett T Chiquet; Syed S Hashmi; Robin Henry; Amber Burt; John B Mulliken; Samuel Stal; Molly S Bray; S Blanton; Jacqueline T Hecht
Genomic screening identifies novel linkages and provides further evidence for a role of MYH9 in nonsyndromic cleft lip and palate.
European journal of human genetics : EJHG 2009;17(2):195-204.
2009: Liyong Wang; Ashley Beecham; Marco R Di Tullio; Susan Slifer; S Blanton; Tatjana Rundek; Ralph L Sacco
Novel quantitative trait locus is mapped to chromosome 12p11 for left ventricular mass in Dominican families: the Family Study of Stroke Risk and Carotid Atherosclerosis.
BMC medical genetics 2009;10():74.
2008: Kathleen S Arnos; Katherine O Welch; Mustafa Tekin; Virginia W Norris; S Blanton; Arti Pandya; Walter E Nance
A comparative analysis of the genetic epidemiology of deafness in the United States in two sets of pedigrees collected more than a century apart.
American journal of human genetics 2008;83(2):200-7.
2008: Brett T Chiquet; S Blanton; Amber Burt; Deqiong Ma; Samuel Stal; John B Mulliken; Jacqueline T Hecht
Variation in WNT genes is associated with non-syndromic cleft lip with or without cleft palate.
Human molecular genetics 2008;17(14):2212-8.
2007: Jacqueline T Hecht; Audrey Ester; Allison Scott; Carol A Wise; David Iovannisci; Edward J Lammer; Peter H Langlois; S Blanton
NAT2 variation and idiopathic talipes equinovarus (clubfoot).
American journal of medical genetics. Part A 2007;143A(19):2285-91.
2007: Brett T Chiquet; Andrew C Lidral; Samuel Stal; John B Mulliken; Lina M Moreno; Mauricio Arcos-Burgos; Mauricio Arco-Burgos; Consuelo Valencia-Ramirez; S Blanton; Jacqueline T Hecht
CRISPLD2: a novel NSCLP candidate gene.
Human molecular genetics 2007;16(18):2241-8.
2007: Audrey R Ester; Gayle H Tyerman; Carol A Wise; S Blanton; Jacqueline T Hecht
Apoptotic gene analysis in idiopathic talipes equinovarus (clubfoot).
Clinical orthopaedics and related research 2007;462():32-7.
2006: Lori S Sullivan; Sara J Bowne; C Robyn Seaman; S Blanton; Richard A Lewis; John R Heckenlively; David G Birch; Dianna Hughbanks-Wheaton; Stephen P Daiger
Genomic rearrangements of the PRPF31 gene account for 2.5% of autosomal dominant retinitis pigmentosa.
Investigative ophthalmology & visual science 2006;47(10):4579-88.
2006: Cathryn S Mellersh; M E G Boursnell; Louise Pettitt; EJ Ryder; Nigel G Holmes; Darren Grafham; Oliver P Forman; J Sampson; Keith C Barnett; S Blanton; Matthew M Binns; Mark Vaudin
Canine RPGRIP1 mutation establishes cone-rod dystrophy in miniature longhaired dachshunds as a homologue of human Leber congenital amaurosis.
Genomics 2006;88(3):293-301.
2006: Sarah K Burton; S Blanton; Brandt Culpepper; Karl R White; Arti Pandya; Walter E Nance; Kathleen S Arnos
Education in the genetics of hearing loss: a survey of early hearing detection and intervention programs.
Genetics in medicine : official journal of the American College of Medical Genetics 2006;8(8):510-7.
2006: Lori S Sullivan; Sara J Bowne; David G Birch; Dianna Hughbanks-Wheaton; John R Heckenlively; Richard Alan Lewis; Charles A Garcia; Richard S Ruiz; S Blanton; Hope Northrup; Anisa I Gire; Robyn Seaman; Hatice Duzkale; Catherine J Spellicy; Jingya Zhu; Suma Shankar; Stephen P Daiger
Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families.
Investigative ophthalmology & visual science 2006;47(7):3052-64.
2006: Denise Yan; X Ke; S Blanton; Xiao Mei Ouyang; Arti Pandya; Li Lin Du; Walter E Nance; Xue Zhong Liu
A novel locus for autosomal dominant non-syndromic deafness, DFNA53, maps to chromosome 14q11.2-q12.
Journal of medical genetics 2006;43(2):170-4.
2005: Kit-Sing Au; Hope Northrup; Timothy J Kirkpatrick; KA Volcik; Jack M Fletcher; Irene Townsend; S Blanton; Gayle H Tyerman; G Villarreal; Terri King
Promotor genotype of the platelet-derived growth factor receptor-alpha gene shows population stratification but not association with spina bifida meningomyelocele.
American journal of medical genetics. Part A 2005;139(3):194-8.
2005: Amy L Heck; Molly S Bray; Allison Scott; S Blanton; Jacqueline T Hecht
Variation in CASP10 gene is associated with idiopathic talipes equinovarus.
Journal of pediatric orthopedics 2005;25(5):598-602.
2005: S Blanton; Amy Cortez; Samuel Stal; John B Mulliken; Richard Finnell; Jacqueline T Hecht
Variation in IRF6 contributes to nonsyndromic cleft lip and palate.
American journal of medical genetics. Part A 2005;137A(3):259-62.
2004: Anujith Kumar; S Blanton; Mohan Babu; Manjunath Markandaya; Satish Girimaji
Genetic analysis of primary microcephaly in Indian families: novel ASPM mutations.
Clinical genetics 2004;66(4):341-8.
2004: Arun Kumar; Jyoti Shetty; Bharath Kumar; S Blanton
Confirmation of linkage and refinement of the RP28 locus for autosomal recessive retinitis pigmentosa on chromosome 2p14-p15 in an Indian family.
Molecular vision 2004;10():399-402.
2004: S Blanton; Terry Bertin; Sketa Patel; Samuel Stal; John B Mulliken; Jacqueline T Hecht
Nonsyndromic cleft lip and palate: four chromosomal regions of interest.
American journal of medical genetics. Part A 2004;125A(1):28-37.
2004: S Blanton; Terry Bertin; Maria E Serna; Samuel Stal; John B Mulliken; Jacqueline T Hecht
Association of chromosomal regions 3p21.2, 10p13, and 16p13.3 with nonsyndromic cleft lip and palate.
American journal of medical genetics. Part A 2004;125A(1):23-7.
2003: Arti Pandya; Kathleen S Arnos; Xia Juan Xia; Katherine O Welch; S Blanton; Thomas B Friedman; Guillermina Garcia Sanchez; Xiu Z Liu MD; Robert J Morell; Walter E Nance
Frequency and distribution of GJB2 (connexin 26) and GJB6 (connexin 30) mutations in a large North American repository of deaf probands.
Genetics in medicine : official journal of the American College of Medical Genetics 2003;5(4):295-303.
2003: Katherine O Welch; Mustafa Tekin; Walter E Nance; S Blanton; Kathleen S Arnos; Arti Pandya
Chudley-McCullough syndrome: expanded phenotype and review of the literature.
American journal of medical genetics. Part A 2003;119A(1):71-6.
2002: S Blanton; C Y Liang; M W Cai; Arti Pandya; Li Lin Du; BL Landa; S Mummalanni; K S Li; Zheng Yi Chen; X N Qin; Y F Liu; Thomas J Balkany; Walter E Nance; Xue Zhong Liu
A novel locus for autosomal dominant non-syndromic deafness (DFNA41) maps to chromosome 12q24-qter.
Journal of medical genetics 2002;39(8):567-70.
2002: Jacqueline T Hecht; John B Mulliken; S Blanton
Evidence for a cleft palate only locus on chromosome 4 near MSX1.
American journal of medical genetics 2002;110(4):406-7.
2002: S Blanton; Sketa Patel; Jacqueline T Hecht; John B Mulliken
MTHFR is not a risk factor in the development of isolated nonsyndromic cleft lip and palate.
American journal of medical genetics 2002;110(4):404-5.
2002: KA Volcik; S Blanton; M C Kruzel; Irene Townsend; Gayle H Tyerman; R J Mier; Hope Northrup
Testing for genetic associations in a spina bifida population: analysis of the HOX gene family and human candidate gene regions implicated by mouse models of neural tube defects.
American journal of medical genetics 2002;110(3):203-7.
2002: KA Volcik; S Blanton; M C Kruzel; Irene Townsend; Gayle H Tyerman; R J Mier; Hope Northrup
Testing for genetic associations with the PAX gene family in a spina bifida population.
American journal of medical genetics 2002;110(3):195-202.
2002: Luisa Bonafé; S Blanton; A Scott; S Broussard; Carol A Wise; andrea superti-furga; Jacqueline T Hecht
DTDST mutations are not a frequent cause of idiopathic talipes equinovarus (club foot).
Journal of medical genetics 2002;39(4):e20.
2002: Sara J Bowne; Lori S Sullivan; S Blanton; Constance L Cepko; Seth Blackshaw; David G Birch; Dianna Hughbanks-Wheaton; John R Heckenlively; Stephen P Daiger
Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) cause the RP10 form of autosomal dominant retinitis pigmentosa.
Human molecular genetics 2002;11(5):559-68.
2001: KA Volcik; S Blanton; Hope Northrup
Examinations of methylenetetrahydrofolate reductase C677T and A1298C mutations--and in utero viability.
American journal of human genetics 2001;69(5):1150-3.
2001: Xue Zhong Liu; S Blanton; Maria Bitner-Glindzicz; Arti Pandya; BL Landa; B MacArdle; Kaukat Rajput; S Bellman; Bradley T Webb; X Ping; Richard J H Smith; Walter E Nance
Haplotype analysis of the USH1D locus and genotype-phenotype correlations.
Clinical genetics 2001;60(1):58-62.
2001: Mustafa Tekin; N Akar; Sükrü Cin; S Blanton; Xia Juan Xia; Xue Zhong Liu; Walter E Nance; Arti Pandya
Connexin 26 (GJB2) mutations in the Turkish population: implications for the origin and high frequency of the 35delG mutation in Caucasians.
Human genetics 2001;108(5):385-9.
2001: Jacqueline T Hecht; S Blanton; S Broussard; A Scott; C Rhoades Hall; J M Milunsky
Evidence for locus heterogeneity in the Camurati-Engelmann (DPD1) Syndrome.
Clinical genetics 2001;59(3):198-200.
2000: KA Volcik; S Blanton; Gayle H Tyerman; S T Jong; E J Rott; T Z Page; N K Romaine; Hope Northrup
Methylenetetrahydrofolate reductase and spina bifida: evaluation of level of defect and maternal genotypic risk in Hispanics.
American journal of medical genetics 2000;95(1):21-7.
2000: S Blanton; B S Kolle; Jacqueline T Hecht; J B Mulliken; Eden R Martin
No evidence supporting MTHFR as a risk factor in the development of familial NSCLP.
American journal of medical genetics 2000;92(5):370-1.
2000: S P Vaughn; S Broussard; Catherine R Hall; A Scott; S Blanton; J M Milunsky; Jacqueline T Hecht
Confirmation of the mapping of the Camurati-Englemann locus to 19q13. 2 and refinement to a 3.2-cM region.
Genomics 2000;66(1):119-21.
2000: S Blanton; Arti Pandya; BL Landa; R Javaheri; X Xia; Walter E Nance; RJ Pomponio; KJ Norrgard; KL Swango; Mübeccel Demirkol; H Gülden; Turgay Coskun; Aysegul Tokatli; Imran Ozalp; Barry Wolf
Fine mapping of the human biotinidase gene and haplotype analysis of five common mutations.
Human heredity 2000;50(2):102-11.
2000: PJ Ferguson; S Blanton; Frank T Saulsbury; Marcia McDuffie; V Lemahieu; Julie M Gastier-Foster; Uta Francke; Stephen M Borowitz; James L Sutphen; TE Kelly
Manifestations and linkage analysis in X-linked autoimmunity-immunodeficiency syndrome.
American journal of medical genetics 2000;90(5):390-7.
2000: T E Kelly; S Blanton; R Saif; S A Sanjad; Nadia A Sakati
Confirmation of the assignment of the Sanjad-Sakati (congenital hypoparathyroidism) syndrome (OMIM 241410) locus to chromosome lq42-43.
Journal of medical genetics 2000;37(1):63-4.
2000: Xue Zhong Liu; Xia Juan Xia; Li Rong Xu; Arti Pandya; C Y Liang; S Blanton; Steve D M Brown; Karen P Steel; Walter E Nance
Mutations in connexin31 underlie recessive as well as dominant non-syndromic hearing loss.
Human molecular genetics 2000;9(1):63-7.
1999: Lori S Sullivan; John R Heckenlively; Sara J Bowne; Jian Zuo; Winston Hide; A Gal; M Denton; Chris F Inglehearn; S Blanton; Stephen P Daiger
Mutations in a novel retina-specific gene cause autosomal dominant retinitis pigmentosa.
Nature genetics 1999;22(3):255-9.
1998: Anita L DeStefano; L A Cupples; Kathleen S Arnos; JH Asher; Clinton T Baldwin; S Blanton; ML Carey; E O da Silva; Thomas B Friedman; J Greenberg; A K Lalwani; Aubrey Milunsky; Walter E Nance; Arti Pandya; Rajkumar Ramesar; A P Read; M Tassabejhi; Edward R Wilcox; Lindsay A Farrer
Correlation between Waardenburg syndrome phenotype and genotype in a population of individuals with identified PAX3 mutations.
Human genetics 1998;102(5):499-506.
1997: Richard W Yee; Lori S Sullivan; H T Lai; E L Stock; Y Lu; M N Khan; S Blanton; Stephen P Daiger
Linkage mapping of Thiel-Behnke corneal dystrophy (CDB2) to chromosome 10q23-q24.
Genomics 1997;46(1):152-4.
1997: Arti Pandya; Xia Juan Xia; S Blanton; BL Landa; T Markello; Walter E Nance
Implications of molecular diagnostic testing in families with hereditary pancreatitis.
Genetic testing 1997;1(3):207-11.
1997: Vilma Yuzbasiyan-Gurkan; S Blanton; Y Cao; P Ferguson; J Li; Patrick J Venta; G J Brewer
Linkage of a microsatellite marker to the canine copper toxicosis locus in Bedlington terriers.
American journal of veterinary research 1997;58(1):23-7.
1997: Jacqueline T Hecht; DA Hogue; Y Wang; S Blanton; M Wagner; Louise C Strong; W Raskind; Marc F Hansen; D Wells
Hereditary multiple exostoses (EXT): mutational studies of familial EXT1 cases and EXT-associated malignancies.
American journal of human genetics 1997;60(1):80-6.
1996: Arti Pandya; S Blanton; BL Landa; R Javaheri; E Melvin; Walter E Nance; T Markello
Linkage studies in a large kindred with hereditary pancreatitis confirms mapping of the gene to a 16-cM region on 7q.
Genomics 1996;38(2):227-30.
1996: Nancy H Miller; B Mims; A Child; Dianna M Milewicz; Paul D Sponseller; S Blanton
Genetic analysis of structural elastic fiber and collagen genes in familial adolescent idiopathic scoliosis.
Journal of orthopaedic research : official publication of the Orthopaedic Research Society 1996;14(6):994-9.
1996: C Amos; J Stein; J B Mulliken; S Stal; S Malcolm; R Winter; S Blanton; E Seemanova; D L Gasser; Jacqueline T Hecht
Nonsyndromic cleft lip with or without cleft palate: erratum.
American journal of human genetics 1996;59(3):744.
1996: Kit-Sing Au; J Murrell; AJ Buckler; S Blanton; Hope Northrup
Report of a critical recombination further narrowing the TSC1 region.
Journal of medical genetics 1996;33(7):559-61.
1996: Arnab Chakravarti; S Blanton; Brad Kendall; Richard W McCallum
Cosegregation of familial intestinal pseudoobstruction and presence of digital arches in a large multigenerational pedigree.
Digestive diseases and sciences 1996;41(7):1429-33.
1996: Andrew J Griffith; Daniel L Burgess; David C Kohrman; J Yu; J Blaschak; S Blanton; Michael Boehnke; J T Hecht; J Overhauser; Miriam H Meisler
Localization of the homolog of a mouse craniofacial mutant to human chromosome 18q11 and evaluation of linkage to human CLP and CPO.
Genomics 1996;34(3):299-303.
1996: Vandana Shashi; WL Golden; P S Allinson; S Blanton; Chris Von Kap-Herr; TE Kelly
Molecular analysis of recombination in a family with Duchenne muscular dystrophy and a large pericentric X chromosome inversion.
American journal of human genetics 1996;58(6):1231-8.
1996: Arti Pandya; Xia Juan Xia; B L Landa; K S Arnos; J Israel; J Lloyd; A L James; S R Diehl; S Blanton; Walter E Nance
Phenotypic variation in Waardenburg syndrome: mutational heterogeneity, modifier genes or polygenic background?
Human molecular genetics 1996;5(4):497-502.
1996: William B Dobyns; M A Patton; R F Stratton; Joan M Mastrobattista; S Blanton; Hope Northrup
Cobblestone lissencephaly with normal eyes and muscle.
Neuropediatrics 1996;27(2):70-5.
1996: S Blanton; D Hogue; M Wagner; D Wells; I D Young; Jacqueline T Hecht
Hereditary multiple exostoses: confirmation of linkage to chromosomes 8 and 11.
American journal of medical genetics 1996;62(2):150-9.
1996: S Blanton; E Crowder; S Malcolm; R Winter; D L Gasser; S Stal; J Mulliken; Jacqueline T Hecht
Exclusion of linkage between cleft lip with or without cleft palate and markers on chromosomes 4 and 6.
American journal of human genetics 1996;58(1):239-41.
1995: Joan M Mastrobattista; P Dollé; S Blanton; Hope Northrup
Evaluation of candidate genes for familial brachydactyly.
Journal of medical genetics 1995;32(11):851-4.
1995: J Stein; J B Mulliken; S Stal; D L Gasser; S Malcolm; R Winter; S Blanton; C Amos; E Seemanova; Jacqueline T Hecht
Nonsyndromic cleft lip with or without cleft palate: evidence of linkage to BCL3 in 17 multigenerational families.
American journal of human genetics 1995;57(2):257-72.
1995: Jacqueline T Hecht; C A Herrera; G A Greenhaw; Clair A Francomano; GA Bellus; S Blanton
Confirmatory linkage of hypochondroplasia to chromosome arm 4p.
American journal of medical genetics 1995;57(3):505-6.
1995: R E McGuire; Lori S Sullivan; S Blanton; Michael W Church; John R Heckenlively; Stephen P Daiger
X-linked dominant cone-rod degeneration: linkage mapping of a new locus for retinitis pigmentosa (RP 15) to Xp22.13-p22.11.
American journal of human genetics 1995;57(1):87-94.
1995: Jacqueline T Hecht; D Hogue; L C Strong; M F Hansen; S Blanton; M Wagner
Hereditary multiple exostosis and chondrosarcoma: linkage to chromosome II and loss of heterozygosity for EXT-linked markers on chromosomes II and 8.
American journal of human genetics 1995;56(5):1125-31.
1995: M Deere; S Blanton; C I Scott; L O Langer; Richard M Pauli; Jacqueline T Hecht
Genetic heterogeneity in multiple epiphyseal dysplasia.
American journal of human genetics 1995;56(3):698-704.
1995: J D Stein; J T Hecht; S Blanton
Exclusion of retinoic acid receptor and a cartilage matrix protein in non-syndromic CL(P) families.
Journal of medical genetics 1995;32(1):78.
1995: N K Spurr; S Blanton; R Bookstein; R Clarke; R Cottingham; Stephen P Daiger; D Drayna; P Faber; S Horrigan; K Kas
Report and abstracts of the second international workshop on human chromosome 8 mapping 1994. Oxford, United Kingdom, September 16-18, 1994.
Cytogenetics and cell genetics 1995;68(3-4):147-64.
1994: Kunal Ray; Victoria J Baldwin; Gregory M Acland; S Blanton; Gustavo D Aguirre
Cosegregation of codon 807 mutation of the canine rod cGMP phosphodiesterase beta gene and rcd1.
Investigative ophthalmology & visual science 1994;35(13):4291-9.
1994: Gregory M Acland; S Blanton; B Hershfield; G D Aguiree
XLPRA: a canine retinal degeneration inherited as an X-linked trait.
American journal of medical genetics 1994;52(1):27-33.
1994: Clair A Francomano; R I Ortiz de Luna; T W Hefferon; GA Bellus; C E Turner; E Taylor; Deborah A Meyers; S Blanton; J C Murray; Iain McIntosh
Localization of the achondroplasia gene to the distal 2.5 Mb of human chromosome 4p.
Human molecular genetics 1994;3(5):787-92.
1994: Lori S Sullivan; J Parrish; M J Wagner; D Wells; S Blanton; Stephen P Daiger
Tetranucleotide repeat polymorphism (D8S582) for human EST00680 (D8S340E).
Human molecular genetics 1994;3(2):386.
1993: Jacqueline T Hecht; Clair A Francomano; Michael D Briggs; M Deere; B Conner; W A Horton; Matthew L Warman; Daniel H Cohn; S Blanton
Linkage of typical pseudoachondroplasia to chromosome 19.
Genomics 1993;18(3):661-6.
1993: A Cook; Wendy H Raskind; S Blanton; Richard M Pauli; R G Gregg; Clair A Francomano; E Puffenberger; E U Conrad; G Schmale; Gerard D Schellenberg
Genetic heterogeneity in families with hereditary multiple exostoses.
American journal of human genetics 1993;53(1):71-9.
1993: J T Hecht; Y Wang; B Connor; S Blanton; Stephen P Daiger
Nonsyndromic cleft lip and palate: no evidence of linkage to HLA or factor 13A.
American journal of human genetics 1993;52(6):1230-3.
1993: Vilma Yuzbasiyan-Gurkan; S Wagnitz; S Blanton; G J Brewer
Linkage studies of the esterase D and retinoblastoma genes to canine copper toxicosis: a model for Wilson disease.
Genomics 1993;15(1):86-90.
1993: S Wood; K Ben Othmane; U S Bergerheim; S Blanton; R Bookstein; R A Clarke; Stephen P Daiger; H Donis-Keller; D Drayna; S Kumar
Report and abstracts of the First International Workshop on Human Chromosome 8 Mapping. Vancouver, British Columbia, May 2-4, 1993.
Cytogenetics and cell genetics 1993;64(3-4):134-46.
1992: Jacqueline T Hecht; S Blanton; Y Wang; Stephen P Daiger; W A Horton; C Rhodes; Y Yamada; Clair A Francomano
Exclusion of human proteoglycan link protein (CRTL1) and type II collagen (COL2A1) genes in pseudoachondroplasia.
American journal of medical genetics 1992;44(4):420-4.
1992: Hope Northrup; D J Kwiatkowski; E Steve Roach; William B Dobyns; R A Lewis; G E Herman; E Rodriguez; Stephen P Daiger; S Blanton
Evidence for genetic heterogeneity in tuberous sclerosis: one locus on chromosome 9 and at least one locus elsewhere.
American journal of human genetics 1992;51(4):709-20.
1992: J Tomfohrde; S Wood; M Schertzer; M J Wagner; Dan E Wells; J Parrish; L A Sadler; S Blanton; Stephen P Daiger; Z Wang
Human chromosome 8 linkage map based on short tandem repeat polymorphisms: effect of genotyping errors.
Genomics 1992;14(1):144-52.
1992: J T Hecht; Y Wang; S Blanton; Stephen P Daiger
Van der Woude syndrome and nonsyndromic cleft lip and palate.
American journal of human genetics 1992;51(2):442-4.
1992: Y J Fei; S Blanton; Stephen P Daiger; C R Luo
Linkage between Rh blood group and autosomal dominant retinitis pigmentosa in ten Chinese families.
Chinese medical journal 1992;105(6):486-9.
1992: A W Cottingham; L A Sadler; S Blanton; M J Wagner; Dan E Wells; John R Heckenlively; Stephen P Daiger
A tight linkage cluster, with two new RFLPs (D8S96 and D8S108), in the interval 8cen-q13.
Nucleic acids research 1992;20(6):1426.
1991: S Blanton; John R Heckenlively; A W Cottingham; J Friedman; L A Sadler; M Wagner; L H Friedman; Stephen P Daiger
Linkage mapping of autosomal dominant retinitis pigmentosa (RP1) to the pericentric region of human chromosome 8.
Genomics 1991;11(4):857-69.
1991: L A Sadler; S Blanton; Stephen P Daiger
Dinucleotide repeat polymorphism at the human tissue plasminogen activator gene (PLAT).
Nucleic acids research 1991;19(21):6058.
1991: B Murugasu; B R Cole; E P Hawkins; S Blanton; S B Conley; Ronald J Portman
Familial renal adysplasia.
American journal of kidney diseases : the official journal of the National Kidney Foundation 1991;18(4):490-4.
1991: A W Cottingham; S Blanton; A E Retief; Louise Warnich; Stephen P Daiger
A new StyI RFLP and haplotypes with the HindIII RFLP at the D8S5 (TL11) locus.
Nucleic acids research 1991;19(17):4790.
1991: J T Hecht; Y P Wang; S Blanton; V V Michels; Stephen P Daiger
Cleft lip and palate: no evidence of linkage to transforming growth factor alpha.
American journal of human genetics 1991;49(3):682-6.
1991: Hope Northrup; S Blanton
Linkage studies for markers on 9q to tuberous sclerosis.
Annals of the New York Academy of Sciences 1991;615():384-5.
1990: S Blanton; A W Cottingham; N Giesenschlag; John R Heckenlively; Peter Humphries; Stephen P Daiger
Further evidence of exclusion of linkage between type II autosomal dominant retinitis pigmentosa (ADRP) and D3S47 on 3q.
Genomics 1990;8(1):179-81.
1990: S Blanton; M Sarfarazi; H Eiberg; J de Groote; P A Farndon; Michael W Kilpatrick; A H Child; F Michael Pope; Leena Peltonen; Clair A Francomano
An exclusion map of Marfan syndrome.
Journal of medical genetics 1990;27(2):73-7.
1990: R C Schwartz; S Blanton; C A Hyde; T R Sottile; L Hudgins; M Sarfarazi; Petros Tsipouras
Linkage analysis in Marfan syndrome.
Journal of medical genetics 1990;27(2):86-90.
1989: Baruch S Blumberg; S Blanton; D I Shrager; William A Blattner
HTLV-I (Philadelphia, 1969)
Lancet 1989;2(8658):327-8.
1988: S E Antonarakis; P Oettgen; Aravinda Chakravarti; S Blanton; R R Hudson; L Feisee; Sotirios Karathanasis
DNA polymorphism haplotypes of the human apolipoprotein APOA1-APOC3-APOA4 gene cluster.
Human genetics 1988;80(3):265-73.
1987: S Blanton; Aravinda Chakravarti
DSLINK: a computer program for gene-centromere linkage analysis in families with a trisomic offspring.
American journal of human genetics 1987;41(3):350-5.
1987: AC Warren; Aravinda Chakravarti; C Wong; Susan A Slaugenhaupt; S Blanton; P C Watkins; C Metaxotou; S E Antonarakis
Evidence for reduced recombination on the nondisjoined chromosomes 21 in Down syndrome.
Science (New York, N.Y.) 1987;237(4815):652-4.
1987: C C Li; Aravinda Chakravarti; S Blanton
Estimation of segregation and ascertainment probabilities by discarding the single probands.
Genetic epidemiology 1987;4(3):185-91.
1986: Aravinda Chakravarti; S Blanton; S J Bale; M A Tucker
Etiological heterogeneity in Hodgkin's disease: HLA linked and unlinked determinants of susceptibility independent of histological concordance.
Genetic epidemiology 1986;3(6):407-15.
1986: Joann Boughman; S Blanton; Diane Roulston; Stuart Schwartz; J B Suzuki; L R Weitkamp; R E Wenk; R Wooten; M M Cohen
An autosomal-dominant form of juvenile periodontitis: its localization to chromosome 4 and linkage to dentinogenesis imperfecta and Gc.
Journal of craniofacial genetics and developmental biology 1986;6(4):341-50.
1986: S E Antonarakis; Aravinda Chakravarti; AC Warren; Susan A Slaugenhaupt; C Wong; S Blanton; C Metaxotou
Reduced recombination rate on chromosomes 21 that have undergone nondisjunction.
Cold Spring Harbor symposia on quantitative biology 1986;51 Pt 1():185-90.
1985: S Blanton; Joann Boughman; T P Dryja; S Mukai; D Long; D F Roberts; A W Craft
Accuracy of detection of the retinoblastoma gene by esterase D linkage.
Archives of ophthalmology 1985;103(9):1329-31.
1983: S Blanton; David B Flannery; M B Kodroff; A C Santora; B Wolf
Cheirolumbar dysostosis: a phenotype of pseudohypoparathyroidism.
Skeletal radiology 1983;10(3):161-4.