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Evidence for locus heterogeneity in the Camurati-Engelmann (DPD1) Syndrome.
Published in:
Clinical Genetics, 2001, v. 59, n. 3, p. 198, doi. 10.1034/j.1399-0004.2001.590310.x
By:
- Hecht, Jacqueline T.;
- Blanton, Susan H.;
- Broussard, Sherrice;
- Scott, Allison;
- Hall, Catherine Rhoades;
- Milunsky, Jeff M.
Publication type:
Article
A novel mutation in VCP causes Charcot-Marie-Tooth Type 2 disease.
Published in:
2014
By:
- Gonzalez, Michael A;
- Feely, Shawna M;
- Speziani, Fiorella;
- Strickland, Alleene V;
- Danzi, Matt;
- Bacon, Chelsea;
- Lee, Youjin;
- Chou, Tsui-Fen;
- Blanton, Susan H;
- Weihl, Conrad C;
- Zuchner, Stephan;
- Shy, Michael E
Publication type:
journal article
Usher Syndrome in the Inner Ear: Etiologies and Advances in Gene Therapy.
Published in:
International Journal of Molecular Sciences, 2021, v. 22, n. 8, p. 3910, doi. 10.3390/ijms22083910
By:
- de Joya, Evan M.;
- Colbert, Brett M.;
- Tang, Pei-Ciao;
- Lam, Byron L.;
- Yang, Jun;
- Blanton, Susan H.;
- Dykxhoorn, Derek M.;
- Liu, Xuezhong
Publication type:
Article
Evidence for craniofacial enhancer variation underlying nonsyndromic cleft lip and palate.
Published in:
Human Genetics, 2020, v. 139, n. 10, p. 1261, doi. 10.1007/s00439-020-02169-9
By:
- Morris, Vershanna E.;
- Hashmi, S. Shahrukh;
- Zhu, Lisha;
- Maili, Lorena;
- Urbina, Christian;
- Blackwell, Steven;
- Greives, Matthew R.;
- Buchanan, Edward P.;
- Mulliken, John B.;
- Blanton, Susan H.;
- Zheng, W. Jim;
- Hecht, Jacqueline T.;
- Letra, Ariadne
Publication type:
Article
Application of the ACMG/NSGC genetic referral guidelines for hereditary renal cell carcinoma at the University of Miami, from 2014 to 2017.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 10, p. 3012, doi. 10.1002/ajmg.a.62402
By:
- Leuchter, Jessica D.;
- Patel, Priyen M.;
- Fourzali, Kayla M.;
- Donenberg, Talia R.;
- Silva‐Smith, Rachel;
- Vassallo, Nicolette C.;
- Blanton, Susan H.;
- Parekh, Dipen J.;
- Forghani, Irman
Publication type:
Article
Mutations in a novel retina-specific gene cause autosomal dominant retinitis pigmentosa.
Published in:
Nature Genetics, 1999, v. 22, n. 3, p. 255, doi. 10.1038/10314
By:
- Sullivan, Lori S.;
- Heckenlively, John R.;
- Bowne, Sara J.;
- Zuo, Jian;
- Hide, Winston A.;
- Gal, Andreas;
- Denton, Michael;
- Inglehearn, Chris F.;
- Blanton, Susan H.;
- Daiger, Stephen P.
Publication type:
Article
Ethnic Heterogeneity of IRF6 AP-2a Binding Site Promoter SNP Association With Nonsyndromic Cleft Lip and Palate.
Published in:
Cleft Palate Craniofacial Journal, 2010, v. 47, n. 6, p. 574, doi. 10.1597/09-153
By:
- Blanton, Susan H.;
- Burt, Amber;
- Garcia, Elizabeth;
- Mulliken, John B.;
- Stal, Samuel;
- Hecht, Jacqueline T.
Publication type:
Article
Association of the Sirtuin and Mitochondrial Uncoupling Protein Genes with Carotid Plaque.
Published in:
PLoS ONE, 2011, v. 6, n. 11, p. 1, doi. 10.1371/journal.pone.0027157
By:
- Chuanhui Dong;
- Della-Morte, David;
- Liyong Wang;
- Cabral, Digna;
- Beecham, Ashley;
- McClendon, Mark S.;
- Luca, Corneliu C.;
- Blanton, Susan H.;
- Sacco, Ralph L.;
- Rundek, Tatjana
Publication type:
Article
BRCA1 and BRCA2 gene variants and nonsyndromic cleft lip/palate.
Published in:
Birth Defects Research, 2018, v. 110, n. 12, p. 1043, doi. 10.1002/bdr2.1346
By:
- Rodriguez, Nicholas;
- Maili, Lorena;
- Chiquet, Brett T.;
- Blanton, Susan H.;
- Hecht, Jacqueline T.;
- Letra, Ariadne
Publication type:
Article
A dominant variant in the PDE1C gene is associated with nonsyndromic hearing loss.
Published in:
Human Genetics, 2018, v. 137, n. 6/7, p. 437, doi. 10.1007/s00439-018-1895-y
By:
- Wang, Li;
- Feng, Yong;
- Yan, Denise;
- Qin, Litao;
- Grati, M’hamed;
- Mittal, Rahul;
- Li, Tao;
- Sundhari, Abhiraami Kannan;
- Liu, Yalan;
- Chapagain, Prem;
- Blanton, Susan H.;
- Liao, Shixiu;
- Liu, Xuezhong
Publication type:
Article
A homozygous mutation in LTBP2 causes isolated microspherophakia.
Published in:
Human Genetics, 2010, v. 128, n. 4, p. 365, doi. 10.1007/s00439-010-0858-8
By:
- Kumar, Arun;
- Duvvari, Maheswara R.;
- Prabhakaran, Venkatesh C.;
- Shetty, Jyoti S.;
- Murthy, Gowri J.;
- Blanton, Susan H.
Publication type:
Article
Connexin 26 (GJB2) mutations in the Turkish population: implications for the origin and high frequency of the 35delG mutation in Caucasians.
Published in:
Human Genetics, 2001, v. 108, n. 5, p. 385, doi. 10.1007/s004390100507
By:
- Tekin, Mustafa;
- Akar, Nejat;
- Cin, Şükrü;
- Blanton, Susan H.;
- Xia Juan Xia;
- Xue Zhong Liu;
- Nance, Walter E.;
- Pandya, Arti
Publication type:
Article
A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement.
Published in:
European Journal of Human Genetics, 2011, v. 19, n. 10, p. 1074, doi. 10.1038/ejhg.2011.86
By:
- Bowne, Sara J.;
- Humphries, Marian M.;
- Sullivan, Lori S.;
- Kenna, Paul F.;
- Tam, Lawrence C. S.;
- Kiang, Anna S.;
- Campbell, Matthew;
- Weinstock, George M.;
- Koboldt, Daniel C.;
- Ding, Li;
- Fulton, Robert S.;
- Sodergren, Erica J.;
- Allman, Denis;
- Millington-Ward, Sophia;
- Palfi, Arpad;
- McKee, Alex;
- Blanton, Susan H.;
- Slifer, Susan;
- Konidari, Ioanna;
- Farrar, G. Jane
Publication type:
Article
A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement.
Published in:
2011
By:
- Bowne, Sara J;
- Humphries, Marian M;
- Sullivan, Lori S;
- Kenna, Paul F;
- Tam, Lawrence CS;
- Kiang, Anna S;
- Campbell, Matthew;
- Weinstock, George M;
- Koboldt, Daniel C;
- Ding, Li;
- Fulton, Robert S;
- Sodergren, Erica J;
- Allman, Denis;
- Millington-Ward, Sophia;
- Palfi, Arpad;
- McKee, Alex;
- Blanton, Susan H;
- Slifer, Susan;
- Konidari, Ioanna;
- Farrar, G Jane
Publication type:
Correction Notice
Genomic screening identifies novel linkages and provides further evidence for a role of MYH9 in nonsyndromic cleft lip and palate.
Published in:
European Journal of Human Genetics, 2009, v. 17, n. 2, p. 195, doi. 10.1038/ejhg.2008.149
By:
- Chiquet, Brett T.;
- Hashmi, Syed S.;
- Henry, Robin;
- Burt, Amber;
- Mulliken, John B.;
- Stal, Samuel;
- Bray, Molly;
- Blanton, Susan H.;
- Hecht, Jacqueline T.
Publication type:
Article
Targeted sequencing of linkage region in Dominican families implicates PRIMA1 and the SPATA7-PTPN21-ZC3H14-EML5-TTC8 locus in carotid-intima media thickness and atherosclerotic events.
Published in:
Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-48186-1
By:
- Wang, Liyong;
- Dueker, Nicole;
- Beecham, Ashley;
- Blanton, Susan H.;
- Sacco, Ralph L.;
- Rundek, Tatjana
Publication type:
Article
Sequencing of Linkage Region on Chromosome 12p11 Identifies PKP2 as a Candidate Gene for Left Ventricular Mass in Dominican Families.
Published in:
G3: Genes | Genomes | Genetics, 2018, v. 8, n. 2, p. 659, doi. 10.1534/g3.117.300358
By:
- Dueker, Nicole D.;
- Shengru Guo;
- Beecham, Ashley;
- Liyong Wang;
- Blanton, Susan H.;
- Di Tullio, Marco R.;
- Rundek, Tatjana;
- Sacco, Ralph L.
Publication type:
Article
Fitness Among Individuals with Early Childhood Deafness: Studies in Alumni Families from Gallaudet University.
Published in:
Annals of Human Genetics, 2010, v. 74, n. 1, p. 27, doi. 10.1111/j.1469-1809.2009.00553.x
By:
- Blanton, Susan H.;
- Nance, Walter E.;
- Norris, Virginia W.;
- Welch, Katherine O.;
- Burt, Amber;
- Pandya, Arti;
- Arnos, Kathleen S.
Publication type:
Article
North Carolina macular dystrophy (MCDR1) caused by a novel tandem duplication of the PRDM13 gene.
Published in:
Molecular Vision, 2016, v. 22, p. 1
By:
- Bowne, Sara J.;
- Sullivan, Lori S.;
- Wheaton, Dianna K.;
- Locke, Kirsten G.;
- Jones, Kaylie D.;
- Koboldt, Daniel C.;
- Fulton, Robert S.;
- Wilson, Richard K.;
- Blanton, Susan H.;
- Birch, David G.;
- Daiger, Stephen P.
Publication type:
Article
PBX‐WNT‐P63‐IRF6 pathway in nonsyndromic cleft lip and palate.
Published in:
Birth Defects Research, 2020, v. 112, n. 3, p. 234, doi. 10.1002/bdr2.1630
By:
- Maili, Lorena;
- Letra, Ariadne;
- Silva, Renato;
- Buchanan, Edward P.;
- Mulliken, John B.;
- Greives, Matthew R.;
- Teichgraeber, John F.;
- Blackwell, Steven J.;
- Ummer, Rohit;
- Weber, Ryan;
- Chiquet, Brett;
- Blanton, Susan H.;
- Hecht, Jacqueline T.
Publication type:
Article
Association of IFT88 gene variants with nonsyndromic cleft lip with or without cleft palate.
Published in:
Birth Defects Research, 2019, v. 111, n. 11, p. 659, doi. 10.1002/bdr2.1504
By:
- Barba, Amanda;
- Urbina, Christian;
- Maili, Lorena;
- Greives, Matthew R.;
- Blackwell, Steven J.;
- Mulliken, John B.;
- Chiquet, Brett;
- Blanton, Susan H.;
- Hecht, Jacqueline T.;
- Letra, Ariadne
Publication type:
Article
Targeted Resequencing of Deafness Genes Reveals a Founder MYO15A Variant in Northeastern Brazil.
Published in:
Annals of Human Genetics, 2016, v. 80, n. 6, p. 327, doi. 10.1111/ahg.12177
By:
- Manzoli, Gabrielle N.;
- Bademci, Guney;
- Acosta, Angelina X.;
- Félix, Têmis M.;
- Cengiz, F.Basak;
- Foster, Joseph;
- Da Silva, Danniel S. Dias;
- Menendez, Ibis;
- Sanchez‐Pena, Isalis;
- Tekin, Demet;
- Blanton, Susan H.;
- Abe‐Sandes, Kiyoko;
- Liu, Xue Zhong;
- Tekin, Mustafa
Publication type:
Article
Variation in SIPA1L2 is correlated with phenotype modification in Charcot- Marie- Tooth disease type 1A.
Published in:
2019
By:
- Tao, Feifei;
- Beecham, Gary W.;
- Rebelo, Adriana P.;
- Svaren, John;
- Blanton, Susan H.;
- Moran, John J.;
- Lopez‐Anido, Camila;
- Morrow, Jasper M.;
- Abreu, Lisa;
- Rizzo, Devon;
- Kirk, Callyn A.;
- Wu, Xingyao;
- Feely, Shawna;
- Verhamme, Camiel;
- Saporta, Mario A.;
- Herrmann, David N.;
- Day, John W.;
- Sumner, Charlotte J.;
- Lloyd, Thomas E.;
- Li, Jun
Publication type:
journal article
Regulatory variant in FZD6 gene contributes to nonsyndromic cleft lip and palate in an African-American family.
Published in:
Molecular Genetics & Genomic Medicine, 2015, v. 3, n. 5, p. 440, doi. 10.1002/mgg3.155
By:
- Cvjetkovic, Nevena;
- Maili, Lorena;
- Weymouth, Katelyn S.;
- Hashmi, S. Shahrukh;
- Mulliken, John B.;
- Topczewski, Jacek;
- Letra, Ariadne;
- Yuan, Qiuping;
- Blanton, Susan H.;
- Swindell, Eric C.;
- Hecht, Jacqueline T.
Publication type:
Article
FOXF2 is required for cochlear development in humans and mice.
Published in:
Human Molecular Genetics, 2019, v. 28, n. 8, p. 1286, doi. 10.1093/hmg/ddy431
By:
- Bademci, Guney;
- Abad, Clemer;
- Incesulu, Armagan;
- Elian, Fahed;
- Reyahi, Azadeh;
- Diaz-Horta, Oscar;
- Cengiz, Filiz B;
- Sineni, Claire J;
- Seyhan, Serhat;
- Atli, Emine Ikbal;
- Basmak, Hikmet;
- Demir, Selma;
- Nik, Ali Moussavi;
- Footz, Tim;
- Guo, Shengru;
- Duman, Duygu;
- Fitoz, Suat;
- Gurkan, Hakan;
- Blanton, Susan H;
- Walter, Michael A
Publication type:
Article
Genetics and the Individualized Therapy of Vestibular Disorders.
Published in:
Frontiers in Neurology, 2021, v. 11, p. N.PAG, doi. 10.3389/fneur.2021.633207
By:
- Mei, Christine;
- Dong, Hongsong;
- Nisenbaum, Eric;
- Thielhelm, Torin;
- Nourbakhsh, Aida;
- Yan, Denise;
- Smeal, Molly;
- Lundberg, Yesha;
- Hoffer, Michael E.;
- Angeli, Simon;
- Telischi, Fred;
- Nie, Guohui;
- Blanton, Susan H.;
- Liu, Xuezhong
Publication type:
Article
Rare Variants in NOD1 Associated with Carotid Bifurcation Intima-Media Thickness in Dominican Republic Families.
Published in:
PLoS ONE, 2016, v. 11, n. 12, p. 1, doi. 10.1371/journal.pone.0167202
By:
- Dueker, Nicole D.;
- Beecham, Ashley;
- Wang, Liyong;
- Blanton, Susan H.;
- Guo, Shengru;
- Rundek, Tatjana;
- Sacco, Ralph L.
Publication type:
Article
Rare variants in previously identified linkage regions associated with carotid plaque in Dominican Republic families.
Published in:
PLoS ONE, 2022, v. 17, n. 1, p. 1, doi. 10.1371/journal.pone.0250799
By:
- Dueker, Nicole D.;
- Beecham, Ashley;
- Wang, Liyong;
- Dong, Chuanhui;
- Sacco, Ralph L.;
- Blanton, Susan H.;
- Rundek, Tatjana
Publication type:
Article
Variants in genes that encode muscle contractile proteins influence risk for isolated clubfoot.
Published in:
American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 9, p. 2170, doi. 10.1002/ajmg.a.34167
By:
- Weymouth, Katelyn S.;
- Blanton, Susan H.;
- Bamshad, Michael J.;
- Beck, Anita E.;
- Alvarez, Christine;
- Richards, Steve;
- Gurnett, Christina A.;
- Dobbs, Matthew B.;
- Barnes, Douglas;
- Mitchell, Laura E.;
- Hecht, Jacqueline T.
Publication type:
Article
Association of ABCA4 and MAFB with non-syndromic cleft lip with or without cleft palate.
Published in:
American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1469, doi. 10.1002/ajmg.a.33940
By:
- Yuan, Qiuping;
- Blanton, Susan H.;
- Hecht, Jacqueline T.
Publication type:
Article
Vestibular dysfunction in DFNB1 deafness.
Published in:
American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 5, p. 993, doi. 10.1002/ajmg.a.33828
By:
- Dodson, Kelley M.;
- Blanton, Susan H;
- Welch, Katherine O;
- Norris, Virginia W;
- Nuzzo, Regina L;
- Wegelin, Jacob A.;
- Marin, Ruth S;
- Nance, Walter E;
- Pandya, Arti;
- Arnos, Kathleen S
Publication type:
Article
Sirtuin/uncoupling protein gene variants and carotid plaque area and morphology.
Published in:
International Journal of Stroke, 2015, v. 10, n. 8, p. 1247, doi. 10.1111/ijs.12623
By:
- Dong, Chuanhui;
- Della-Morte, David;
- Cabral, Digna;
- Wang, Liyong;
- Blanton, Susan H.;
- Seemant, Chaturvedi;
- Sacco, Ralph L.;
- Rundek, Tatjana
Publication type:
Article
Collection of Family Health History for Assessment of Chronic Disease Risk in Primary Care.
Published in:
North Carolina Medical Journal, 2013, v. 74, n. 4, p. 279, doi. 10.18043/ncm.74.4.279
By:
- Powell, Karen P.;
- Christianson, Carol A.;
- Hahn, Susan E.;
- Dave, Gaurav;
- Evans, Leslie R.;
- Blanton, Susan H.;
- Hauser, Elizabeth;
- Agbaje, Astrid;
- Orlando, Lori A.;
- Ginsburg, Geoffrey S.;
- Henrich, Vincent C.
Publication type:
Article
MYO3A Causes Human Dominant Deafness and Interacts with Protocadherin 15-CD2 Isoform.
Published in:
Human Mutation, 2016, v. 37, n. 5, p. 481, doi. 10.1002/humu.22961
By:
- Grati, M'hamed;
- Yan, Denise;
- Raval, Manmeet H.;
- Walsh, Tom;
- Ma, Qi;
- Chakchouk, Imen;
- Kannan‐Sundhari, Abhiraami;
- Mittal, Rahul;
- Masmoudi, Saber;
- Blanton, Susan H.;
- Tekin, Mustafa;
- King, Mary‐Claire;
- Yengo, Christopher M.;
- Liu, Xue Zhong
Publication type:
Article
Variation in WNT genes is associated with non-syndromic cleft lip with or without cleft palate.
Published in:
Human Molecular Genetics, 2008, v. 17, n. 14, p. 2212, doi. 10.1093/hmg/ddn121
By:
- Chiquet, Brett T.;
- Blanton, Susan H.;
- Burt, Amber;
- Ma, Deqiong;
- Stal, Samuel;
- Mulliken, John B.;
- Hecht, Jacqueline T.
Publication type:
Article
CRISPLD2: a novel NSCLP candidate gene.
Published in:
Human Molecular Genetics, 2008, v. 17, n. 7, p. 1061
By:
- Chiquet, Brett T.;
- Lidral, Andrew C.;
- Stal, Samuel;
- Mulliken, John B.;
- Moreno, Lina M.;
- Arcos-Burgos, Mauricio;
- Valencia-Ramirez, Consuelo;
- Blanton, Susan H.;
- Hecht, Jacqueline T.
Publication type:
Article
CRISPLD2: a novel NSCLP candidate gene.
Published in:
Human Molecular Genetics, 2007, v. 16, n. 18, p. 2241, doi. 10.1093/hmg/ddm176
By:
- Chiquet, Brett T.;
- Lidral, Andrew C.;
- Stal, Samuel;
- Mulliken, John B.;
- Moreno, Lina M.;
- Arco-Burgos, Mauricio;
- Valencia-Ramirez, Consuelo;
- Blanton, Susan H.;
- Hecht, Jacqueline T.
Publication type:
Article
Mutations in the inosine monophosphate dehydrogenase1 gene (IMPDH1) cause the RP10 form of autosomal dominant retinitispigmentosa.
Published in:
Human Molecular Genetics, 2002, v. 11, n. 5, p. 559, doi. 10.1093/hmg/11.5.559
By:
- Bowne, Sara J.;
- Sullivan, Lori S.;
- Blanton, Susan H.;
- Cepko, ConstanceL.;
- Blackshaw, Seth;
- Birch, DavidG.;
- Hughbanks-Wheaton, Dianna;
- Heckenlively, John R.;
- Daiger, Stephen P.
Publication type:
Article
Phenotypic Variation in Waardenburg Syndrome: Mutational Heterogeneity, Modifier Genes or Polygenic Background?
Published in:
Human Molecular Genetics, 1996, v. 5, n. 4, p. 497, doi. 10.1093/hmg/5.4.497
By:
- Pandya, Arti;
- Xia, Xia-Juan;
- Landa, Barbara L.;
- Arnos, Kathleen S.;
- Israel, Jamie;
- Lloyd, Joyce;
- James, Anthony L.;
- Diehl, Scott R.;
- Blanton, Susan H.;
- Nance, Walter E.
Publication type:
Article
Screening of deafness-causing DNA variants that are common in patients of European ancestry using a microarray-based approach.
Published in:
PLoS ONE, 2017, v. 12, n. 3, p. 1, doi. 10.1371/journal.pone.0169219
By:
- Yan, Denise;
- Xiang, Guangxin;
- Chai, Xingping;
- Qing, Jie;
- Shang, Haiqiong;
- Zou, Bing;
- Mittal, Rahul;
- Shen, Jun;
- Smith, Richard J. H.;
- Fan, Yao-Shan;
- Blanton, Susan H.;
- Tekin, Mustafa;
- Morton, Cynthia;
- Xing, Wanli;
- Cheng, Jing;
- Liu, Xue Zhong
Publication type:
Article

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