Loss of polycystin-1 in human cyst-lining epithelia leads to ciliary dysfunction
NAULI, Surya M, ROSSETTI, Sandro, KOLB, Robert J, ALENGHAT, Francis J, CONSUGAR, Mark B, HARRIS, Peter C, INGBER, Donald E, LOGHMAN-ADHAM, Mahmoud, JING ZHOU
Published in Journal of the American Society of Nephrology (01.04.2006)
Published in Journal of the American Society of Nephrology (01.04.2006)
Get full text
Journal Article
Clinical and molecular characterization defines a broadened spectrum of autosomal recessive polycystic kidney disease (ARPKD)
Adeva, Magdalena, El-Youssef, Mounif, Rossetti, Sandro, Kamath, Patrick S, Kubly, Vickie, Consugar, Mark B, Milliner, Dawn M, King, Bernard F, Torres, Vicente E, Harris, Peter C
Published in Medicine (Baltimore) (01.01.2006)
Published in Medicine (Baltimore) (01.01.2006)
Get full text
Journal Article
Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome
Consugar, Mark B., Wong, Wai C., Lundquist, Patrick A., Rossetti, Sandro, Kubly, Vickie J., Walker, Denise L., Rangel, Laureano J., Aspinwall, Richard, Niaudet, W. Patrick, Özen, Seza, David, Albert, Velinov, Milen, Bergstralh, Eric J., Bae, Kyongtae T., Chapman, Arlene B., Guay-Woodford, Lisa M., Grantham, Jared J., Torres, Vicente E., Sampson, Julian R., Dawson, Brian D., Harris, Peter C., for the CRISP Consortium
Published in Kidney international (01.12.2008)
Published in Kidney international (01.12.2008)
Get full text
Journal Article
Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing
Consugar, Mark B., Navarro-Gomez, Daniel, Place, Emily M., Bujakowska, Kinga M., Sousa, Maria E., Fonseca-Kelly, Zoë D., Taub, Daniel G., Janessian, Maria, Wang, Dan Yi, Au, Elizabeth D., Sims, Katherine B., Sweetser, David A., Fulton, Anne B., Liu, Qin, Wiggs, Janey L., Gai, Xiaowu, Pierce, Eric A.
Published in Genetics in medicine (01.04.2015)
Published in Genetics in medicine (01.04.2015)
Get full text
Journal Article
Transcriptome analyses of the human retina identify unprecedented transcript diversity and 3.5 Mb of novel transcribed sequence via significant alternative splicing and novel genes
Farkas, Michael H, Grant, Gregory R, White, Joseph A, Sousa, Maria E, Consugar, Mark B, Pierce, Eric A
Published in BMC genomics (18.07.2013)
Published in BMC genomics (18.07.2013)
Get full text
Journal Article
Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease
Rossetti, Sandro, Kubly, Vickie J., Consugar, Mark B., Hopp, Katharina, Roy, Sushmita, Horsley, Sharon W., Chauveau, Dominique, Rees, Lesley, Barratt, T. Martin, van't Hoff, William G., Niaudet, W. Patrick, Torres, Vicente E., Harris, Peter C.
Published in Kidney international (01.04.2009)
Published in Kidney international (01.04.2009)
Get full text
Journal Article
Comprehensive molecular diagnostics in autosomal dominant polycystic kidney disease
ROSSETTI, Sandro, CONSUGAR, Mark B, QIN ZHANG, THOMPSON, Paul A, MILLER, J. Philip, HARRIS, Peter C, CHAPMAN, Arlene B, TORRES, Vicente E, GUAY-WOODFORD, Lisa M, GRANTHAM, Jared J, BENNETT, William M, MEYERS, Catherine M, WALKER, Denise L, BAE, Kyongtae
Published in Journal of the American Society of Nephrology (01.07.2007)
Published in Journal of the American Society of Nephrology (01.07.2007)
Get full text
Journal Article
B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis
HOPP, Katharina, HEYER, Christina M, TORRES, Vicente E, ROSSETTI, Sandro, HARRIS, Peter C, HOMMERDING, Cynthia J, HENKE, Susan A, SUNDSBAK, Jamie L, PATEL, Shail, PATEL, Priyanka, CONSUGAR, Mark B, CZARNECKI, Peter G, GLIEM, Troy J
Published in Human molecular genetics (01.07.2011)
Published in Human molecular genetics (01.07.2011)
Get full text
Journal Article
Evidence of a third ADPKD locus is not supported by re-analysis of designated PKD3 families
Paul, Binu M., Consugar, Mark B., Ryan Lee, Moonnoh, Sundsbak, Jamie L., Heyer, Christina M., Rossetti, Sandro, Kubly, Vickie J., Hopp, Katharina, Torres, Vicente E., Coto, Eliecer, Clementi, Maurizio, Bogdanova, Nadja, de Almeida, Edgar, Bichet, Daniel G., Harris, Peter C.
Published in Kidney international (01.02.2014)
Published in Kidney international (01.02.2014)
Get full text
Journal Article
A Novel Mutation of LAMB2 in a Multigenerational Mennonite Family Reveals a New Phenotypic Variant of Pierson Syndrome
Mohney, Brian G., MD, Pulido, Jose S., MD, Lindor, Noralane M., MD, Hogan, Marie C., MD, Consugar, Mark B, Peters, Justin, Pankratz, V. Shane, PhD, Nasr, Samih H., MD, Smith, Stephen J., BS, Gloor, James, MD, Kubly, Vickie, Spencer, Dorothy, Nielson, Rebecca, Puffenberger, Erik G., PhD, Strauss, Kevin A., MD, Morton, D. Holmes, MD, Eldahdah, Lama, Harris, Peter C., PhD
Published in Ophthalmology (Rochester, Minn.) (01.06.2011)
Published in Ophthalmology (Rochester, Minn.) (01.06.2011)
Get full text
Journal Article
Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3
CONSUGAR, Mark B, KUBLY, Vickie J, LAGER, Donna J, HOMMERDING, Cynthia J, WAI CHONG WONG, BAKKER, Egbert, GATTONE, Vincent H, TORRES, Vicente E, BREUNING, Martijn H, HARRIS, Peter C
Published in Human genetics (01.06.2007)
Published in Human genetics (01.06.2007)
Get full text
Journal Article
Cluster Chemistry on Surfaces: Characterization and Catalytic Studies of Phosphine-Stabilized Platinum−Gold Clusters on Silica and Alumina Supports
Graf, Irina V. G, Bacon, Jeffrey W, Consugar, Mark B, Curley, Michael E, Ito, Larry N, Pignolet, Louis H
Published in Inorganic chemistry (31.01.1996)
Published in Inorganic chemistry (31.01.1996)
Get full text
Journal Article
Haplotype analysis improves molecular diagnostics of autosomal recessive polycystic kidney disease
Consugar, Mark B, Anderson, Sarah A, Rossetti, Sandro, Pankratz, V Shane, Ward, Christopher J, Torra, Roser, Coto, Eliecer, El-Youssef, Monif, Kantarci, Sibel, Utsch, Boris, Hildebrandt, Friedhelm, Sweeney, William E, Avner, Ellis D, Torres, Vicente E, Cunningham, Julie M, Harris, Peter C
Published in American journal of kidney diseases (01.01.2005)
Published in American journal of kidney diseases (01.01.2005)
Get more information
Journal Article
Evidence of a third ADPKD locus is not supported by reanalysis of designated PKD3 families
Paul, Binu M., Consugar, Mark B., Lee, Moonnoh Ryan, Sundsbak, Jamie L., Heyer, Christina M., Rossetti, Sandro, Kubly, Vickie J., Hopp, Katharina, Torres, Vicente E., Coto, Eliecer, Clementi, Maurizio, Bogdanova, Nadja, de Almeida, Edgar, Bichet, Daniel G., Harris, Peter C.
Published in Kidney international (12.06.2013)
Published in Kidney international (12.06.2013)
Get full text
Journal Article
Self-hydroxylation of perbenzoic acids at a nonheme iron(II) center
Oh, Na Young, Seo, Mi Sook, Lim, Mi Hee, Consugar, Mark B, Park, Mi Joo, Rohde, Jan-Uwe, Han, Jaehong, Kim, Kwan Mook, Kim, Jinheung, Que, Jr, Lawrence, Nam, Wonwoo
Published in Chemical communications (Cambridge, England) (07.12.2005)
Published in Chemical communications (Cambridge, England) (07.12.2005)
Get more information
Journal Article
A Novel Mutation of LAMB2 in a Multi-Generational Mennonite Family Reveals a New Phenotypic Variant of Pierson Syndrome
Mohney, Brian G., Pulido, Jose S., Lindor, Noralane M., Hogan, Marie C., Consugar, Mark B., Peters, Justin, Pankratz, V. Shane, Nasr, Samih H., Smith, Stephen J., Gloor, James, Kubly, Vickie, Spencer, Dorothy, Nielson, Rebecca, Puffenberger, Erik G., Strauss, Kevin A., Morton, D. Holmes, Eldahdah, Lama, Harris, Peter C.
Published in Ophthalmology (Rochester, Minn.) (13.01.2011)
Published in Ophthalmology (Rochester, Minn.) (13.01.2011)
Get full text
Journal Article