The Role of Nuclear Bodies in Gene Expression and Disease

Por Morimoto, Marie, Boerkoel, Cornelius F.
Publicado em 2013

SMARCAL1 and replication stress: An explanation for SIOD?

Por Bansbach, Carol E, Boerkoel, Cornelius F, Cortez, David
Publicado em 2010

The NIH Undiagnosed Diseases Program: bonding scientists and clinicians

Por Gahl, William A., Boerkoel, Cornelius F., Boehm, Manfred
Publicado em 2012

Chromatin changes in SMARCAL1 deficiency: A hypothesis for the gene expression alterations of Schimke immuno-osseous dysplasia

Por Morimoto, Marie, Choi, Kunho, Boerkoel, Cornelius F., Cho, Kyoung Sang
Publicado no Nucleus (2016)

Gene Clusters, Molecular Evolution and Disease: A Speculation

Por Elizondo, Leah I, Jafar-Nejad, Paymaan, Clewing, J. Marietta, Boerkoel, Cornelius F
Publicado em 2009

Kearns-Sayre syndrome presenting as isolated growth failure

Por Holloman, Conisha Mone, Wolfe, Lynne A, Gahl, William A, Boerkoel, Cornelius F
Publicado em 2013

Clinical and Genetic Distinction of Schimke Immuno-Osseous Dysplasia and Cartilage-Hair Hypoplasia

Por Baradaran-Heravi, Alireza, Thiel, Christian, Rauch, Anita, Zenker, Martin, Boerkoel, Cornelius F., Kaitila, Ilkka
Publicado em 2008

Bone marrow transplantation in Schimke immuno-osseous dysplasia

Por Baradaran-Heravi, Alireza, Lange, Jonas, Asakura, Yumi, Cochat, Pierre, Massella, Laura, Boerkoel, Cornelius F.
Publicado em 2013

Cultural differences define diagnosis and genomic medicine practice: implications for undiagnosed diseases program in China

Por Duan, Xiaohong, Markello, Thomas, Adams, David, Toro, Camilo, Tifft, Cynthia, Gahl, William A., Boerkoel, Cornelius F.
Publicado em 2013

Developmental Expression Pattern of the Cholesterogenic Enzyme NSDHL and Negative Selection of NSDHL-deficient Cells in the Heterozygous Bpa(1H)/+ Mouse

Por Cunningham, David, Spychala, Kaitlyn, McLarren, Keith W., Garza, Luis A., Boerkoel, Cornelius F., Herman, Gail E.
Publicado em 2009

Desmosterolosis: an illustration of diagnostic ambiguity of cholesterol synthesis disorders

Por Dias, Cristina, Rupps, Rosemarie, Millar, Benjamin, Choi, Kunho, Marra, Marco, Demos, Michelle, Kratz, Lisa E, Boerkoel, Cornelius F
Publicado em 2014

Periaxin Mutations Cause Recessive Dejerine-Sottas Neuropathy

Por Boerkoel, Cornelius F., Takashima, Hiroshi, Stankiewicz, Pawel, Garcia, Carlos A., Leber, Steven M., Rhee-Morris, Laila, Lupski, James R.
Publicado em 2001

Detecting false positive signals in exome sequencing

Por Fajardo, Karin V Fuentes, Adams, David, Mason, Christopher E, Sincan, Murat, Tifft, Cynthia, Toro, Camilo, Boerkoel, Cornelius F, Gahl, William, Markello, Thomas
Publicado em 2012

Insights into the Renal Pathogenesis in Schimke Immuno-Osseous Dysplasia: A Renal Histological Characterization and Expression Analysis

Por Sarin, Sanjay, Javidan, Ashkan, Boivin, Felix, Alexopoulou, Iakovina, Lukic, Dusan, Svajger, Bruno, Chu, Stephanie, Baradaran-Heravi, Alireza, Boerkoel, Cornelius F., Rosenblum, Norman D., Bridgewater, Darren
Publicado no J Histochem Cytochem (2015)

Replicate exome-sequencing in a multiple-generation family: improved interpretation of next-generation sequencing data

Por Cherukuri, Praveen F., Maduro, Valerie, Fuentes-Fajardo, Karin V., Lam, Kevin, Adams, David R., Tifft, Cynthia J., Mullikin, James C., Gahl, William A., Boerkoel, Cornelius F.
Publicado no BMC Genomics (2015)

Recombination mapping using Boolean logic and high-density SNP genotyping for exome sequence filtering

Por Markello, Thomas C., Han, Ted, Carlson-Donohoe, Hannah, Ahaghotu, Chidi, Harper, Ursula, Jones, MaryPat, Chandrasekharappa, Settara, Anikster, Yair, Adams, David R., Gahl, William A., Boerkoel, Cornelius F.
Publicado em 2011

Analysis of DNA Sequence Variants Detected by High Throughput Sequencing

Por Adams, David R, Sincan, Murat, Fajardo, Karin Fuentes, Mullikin, James C, Pierson, Tyler M, Toro, Camilo, Boerkoel, Cornelius F, Tifft, Cynthia J, Gahl, William A, Markello, Tom C
Publicado em 2012

Genes in a Refined Smith-Magenis Syndrome Critical Deletion Interval on Chromosome 17p11.2 and the Syntenic Region of the Mouse

Por Bi, Weimin, Yan, Jiong, Stankiewicz, Paweł, Park, Sung-Sup, Walz, Katherina, Boerkoel, Cornelius F., Potocki, Lorraine, Shaffer, Lisa G., Devriendt, Koen, Nowaczyk, Małgorzata J.M., Inoue, Ken, Lupski, James R.
Publicado em 2002

An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia

Por Dias, Cristina, Sincan, Murat, Cherukuri, Praveen F., Rupps, Rosemarie, Huang, Yan, Briemberg, Hannah, Selby, Kathryn, Mullikin, James C., Markello, Thomas C., Adams, David R., Gahl, William A., Boerkoel, Cornelius F.
Publicado em 2012

Rituximab resistant evans syndrome and autoimmunity in Schimke immuno-osseous dysplasia

Por Zieg, Jakub, Krepelova, Anna, Baradaran-Heravi, Alireza, Levtchenko, Elena, Guillén-Navarro, Encarna, Balascakova, Miroslava, Sukova, Martina, Seeman, Tomas, Dusek, Jiri, Simankova, Nadezda, Rosik, Tomas, Skalova, Sylva, Lebl, Jan, Boerkoel, Cornelius F
Publicado em 2011