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)
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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)
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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)
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Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome
Bujakowska, Kinga M, Zhang, Qi, Siemiatkowska, Anna M, Liu, Qin, Place, Emily, Falk, Marni J, Consugar, Mark, Lancelot, Marie-Elise, Antonio, Aline, Lonjou, Christine, Carpentier, Wassila, Mohand-Saïd, Saddek, den Hollander, Anneke I, Cremers, Frans P M, Leroy, Bart P, Gai, Xiaowu, Sahel, José-Alain, van den Born, L Ingeborgh, Collin, Rob W J, Zeitz, Christina, Audo, Isabelle, Pierce, Eric A
Published in Human molecular genetics (01.01.2015)
Published in Human molecular genetics (01.01.2015)
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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)
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Efficient In Silico Identification of a Common Insertion in the MAK Gene which Causes Retinitis Pigmentosa
Bujakowska, Kinga M, White, Joseph, Place, Emily, Consugar, Mark, Comander, Jason
Published in PloS one (11.11.2015)
Published in PloS one (11.11.2015)
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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)
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Journal Article
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)
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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)
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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)
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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)
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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)
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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)
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Investigation of Primary Cilia in the Pathogenesis of Biliary Atresia
Hartley, Jane L, O'Callaghan, Christopher, Rossetti, Sandro, Consugar, Mark, Ward, Christopher J, Kelly, Deirdre A, Harris, Peter C
Published in Journal of pediatric gastroenterology and nutrition (01.04.2011)
Published in Journal of pediatric gastroenterology and nutrition (01.04.2011)
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A complete mutation screen of PKHD1 in autosomal-recessive polycystic kidney disease (ARPKD) pedigrees
Rossetti, Sandro, Torra, Roser, Coto, Eliecer, Consugar, Mark, Kubly, Vickie, Málaga, Serafin, Navarro, Mercedes, El-Youssef, Mounif, Torres, Vicente E., Harris, Peter C.
Published in Kidney international (01.08.2003)
Published in Kidney international (01.08.2003)
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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)
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DNMT3A R882H Exhibits Greater Inflammatory Potential Than R882C in Primary Hematopoietic Stem and Progenitor Cell Knock-in Model and Population Data
Silver, Alexander J, Brown, Donovan J, Vlasschaert, Caitlyn, Bhat, Pawan, Puddu, Fabio, Van Amburg, Joseph C, Villaume, Matthew T, Fischer, Melissa A, Arrate, Maria P, Wang, Yu, Scotcher, Jamie, Stengel, Kristy, Smith, Brianna Nicole, Sharber, Brian, Potts, Chad R, Consugar, Mark, Heimlich, Jonathan Brett, Xu, Yaomin, Ferrell, P. Brent, Bick, Alexander G., Savona, Michael R.
Published in Blood (02.11.2023)
Published in Blood (02.11.2023)
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USMG5 Ashkenazi Jewish founder mutation impairs mitochondrial complex V dimerization and ATP synthesis
Barca, Emanuele, Ganetzky, Rebecca D, Potluri, Prasanth, Juanola-Falgarona, Marti, Gai, Xiaowu, Li, Dong, Jalas, Chaim, Hirsch, Yoel, Emmanuele, Valentina, Tadesse, Saba, Ziosi, Marcello, Akman, Hasan O, Chung, Wendy K, Tanji, Kurenai, McCormick, Elizabeth M, Place, Emily, Consugar, Mark, Pierce, Eric A, Hakonarson, Hakon, Wallace, Douglas C, Hirano, Michio, Falk, Marni J
Published in Human molecular genetics (01.10.2018)
Published in Human molecular genetics (01.10.2018)
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Whole exome sequencing identification of novel candidate genes in patients with proliferative diabetic retinopathy
Ung, Cindy, Sanchez, Angie V., Shen, Lishuang, Davoudi, Samaneh, Ahmadi, Tina, Navarro-Gomez, Daniel, Chen, Ching J., Hancock, Heather, Penman, Alan, Hoadley, Suzanne, Consugar, Mark, Restrepo, Carlos, Shah, Vinay A., Arboleda-Velasquez, Joseph F., Sobrin, Lucia, Gai, Xiaowu, Kim, Leo A.
Published in Vision research (Oxford) (01.10.2017)
Published in Vision research (Oxford) (01.10.2017)
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NMNAT1 mutations cause Leber congenital amaurosis
Falk, Marni J, Zhang, Qi, Nakamaru-Ogiso, Eiko, Kannabiran, Chitra, Fonseca-Kelly, Zoe, Chakarova, Christina, Audo, Isabelle, Mackay, Donna S, Zeitz, Christina, Borman, Arundhati Dev, Staniszewska, Magdalena, Shukla, Rachna, Palavalli, Lakshmi, Mohand-Said, Saddek, Waseem, Naushin H, Jalali, Subhadra, Perin, Juan C, Place, Emily, Ostrovsky, Julian, Xiao, Rui, Bhattacharya, Shomi S, Consugar, Mark, Webster, Andrew R, Sahel, José-Alain, Moore, Anthony T, Berson, Eliot L, Liu, Qin, Gai, Xiaowu, Pierce, Eric A
Published in Nature genetics (01.09.2012)
Published in Nature genetics (01.09.2012)
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