Evaluation of genomic high-throughput sequencing data generated on Illumina HiSeq and Genome Analyzer systems

par Minoche, André E, Dohm, Juliane C, Himmelbauer, Heinz
Publié 2011

Highly diverse chromoviruses of Beta vulgaris are classified by chromodomains and chromosomal integration

par Weber, Beatrice, Heitkam, Tony, Holtgräwe, Daniela, Weisshaar, Bernd, Minoche, André E, Dohm, Juliane C, Himmelbauer, Heinz, Schmidt, Thomas
Publié 2013

Exploiting single-molecule transcript sequencing for eukaryotic gene prediction

par Minoche, André E., Dohm, Juliane C., Schneider, Jessica, Holtgräwe, Daniela, Viehöver, Prisca, Montfort, Magda, Rosleff Sörensen, Thomas, Weisshaar, Bernd, Himmelbauer, Heinz
Publié dans Genome Biol (2015)

Application of Genome Sequencing from Blood to Diagnose Mitochondrial Diseases

par Rius, Rocio, Compton, Alison G., Baker, Naomi L., Welch, AnneMarie E., Coman, David, Kava, Maina P., Minoche, Andre E., Cowley, Mark J., Thorburn, David R., Christodoulou, John
Publié dans Genes (Basel) (2021)

Defining the genetic basis of early onset hereditary spastic paraplegia using whole genome sequencing

par Kumar, Kishore R, Wali, G.M., Kamate, Mahesh, Wali, Gautam, Minoche, André E, Puttick, Clare, Pinese, Mark, Gayevskiy, Velimir, Dinger, Marcel E, Roscioli, Tony, Sue, Carolyn M., Cowley, Mark J
Publié dans Neurogenetics (2016)

ClinSV: clinical grade structural and copy number variant detection from whole genome sequencing data

par Minoche, Andre E., Lundie, Ben, Peters, Greg B., Ohnesorg, Thomas, Pinese, Mark, Thomas, David M., Zankl, Andreas, Roscioli, Tony, Schonrock, Nicole, Kummerfeld, Sarah, Burnett, Leslie, Dinger, Marcel E., Cowley, Mark J.
Publié dans Genome Med (2021)

Expanding the spectrum of PEX16 mutations and novel insights into disease mechanisms

par Kumar, Kishore R., Wali, Gautam, Davis, Ryan L., Mallawaarachchi, Amali C., Palmer, Elizabeth E., Gayevskiy, Velimir, Minoche, Andre E., Veivers, David, Dinger, Marcel E., Mackay-Sim, Alan, Cowley, Mark J., Sue, Carolyn M.
Publié dans Mol Genet Metab Rep (2018)

Whole-Genome Sequencing as a First-Line Genetic Test in Familial Dilated Cardiomyopathy

par Minoche, Andre E., Horvat, Claire, Johnson, Renee, Gayevskiy, Velimir, Morton, Sarah U., Drew, Alexander P., Woo, Kerhan, Statham, Aaron L., Lundie, Ben, Bagnall, Richard D., Ingles, Jodie, Semsarian, Christopher, Seidman, J.G., Seidman, Christine E., Dinger, Marcel E., Cowley, Mark J., Fatkin, Diane
Publié dans Genet Med (2018)

Identification of ALK Gene Alterations in Urothelial Carcinoma

par Bellmunt, Joaquim, Selvarajah, Shamini, Rodig, Scott, Salido, Marta, de Muga, Silvia, Costa, Irmgard, Bellosillo, Beatriz, Werner, Lillian, Mullane, Stephanie, Fay, André P., O'Brien, Robert, Barretina, Jordi, Minoche, André E., Signoretti, Sabina, Montagut, Clara, Himmelbauer, Heinz, Berman, David M., Kantoff, Philip, Choueiri, Toni K., Rosenberg, Jonathan E.
Publié 2014

Genomic diagnostics in polycystic kidney disease: an assessment of real-world use of whole-genome sequencing

par Mallawaarachchi, Amali C., Lundie, Ben, Hort, Yvonne, Schonrock, Nicole, Senum, Sarah R., Gayevskiy, Velimir, Minoche, Andre E., Hollway, Georgina, Ohnesorg, Thomas, Hinchcliffe, Marcus, Patel, Chirag, Tchan, Michel, Mallett, Andrew, Dinger, Marcel E., Rangan, Gopala, Cowley, Mark J., Harris, Peter C., Burnett, Leslie, Shine, John, Furlong, Timothy J.
Publié dans Eur J Hum Genet (2021)

Canfam_GSD: De novo chromosome-length genome assembly of the German Shepherd Dog (Canis lupus familiaris) using a combination of long reads, optical mapping, and Hi-C

par Field, Matt A, Rosen, Benjamin D, Dudchenko, Olga, Chan, Eva K F, Minoche, Andre E, Edwards, Richard J, Barton, Kirston, Lyons, Ruth J, Tuipulotu, Daniel Enosi, Hayes, Vanessa M, D. Omer, Arina, Colaric, Zane, Keilwagen, Jens, Skvortsova, Ksenia, Bogdanovic, Ozren, Smith, Martin A, Aiden, Erez Lieberman, Smith, Timothy P L, Zammit, Robert A, Ballard, J William O
Publié dans Gigascience (2020)

Molecular signatures of plastic phenotypes in two eusocial insect species with simple societies

par Patalano, Solenn, Vlasova, Anna, Wyatt, Chris, Ewels, Philip, Camara, Francisco, Ferreira, Pedro G., Asher, Claire L., Jurkowski, Tomasz P., Segonds-Pichon, Anne, Bachman, Martin, González-Navarrete, Irene, Minoche, André E., Krueger, Felix, Lowy, Ernesto, Marcet-Houben, Marina, Rodriguez-Ales, Jose Luis, Nascimento, Fabio S., Balasubramanian, Shankar, Gabaldon, Toni, Tarver, James E., Andrews, Simon, Himmelbauer, Heinz, Hughes, William O. H., Guigó, Roderic, Reik, Wolf, Sumner, Seirian
Publié dans Proc Natl Acad Sci U S A (2015)

Revealing hidden genetic diagnoses in the ocular anterior segment disorders

par Ma, Alan, Yousoof, Saira, Grigg, John R., Flaherty, Maree, Minoche, Andre E., Cowley, Mark J., Nash, Benjamin M., Ho, Gladys, Gayagay, Thet, Lai, Tiffany, Farnsworth, Elizabeth, Hackett, Emma L., Fisk, Katrina, Wong, Karen, Holman, Katherine J., Jenkins, Gemma, Cheng, Anson, Martin, Frank, Karaconji, Tanya, Elder, James E., Enriquez, Annabelle, Wilson, Meredith, Amor, David J., Stutterd, Chloe A., Kamien, Benjamin, Nelson, John, Dinger, Marcel E., Bennetts, Bruce, Jamieson, Robyn V.
Publié dans Genet Med (2020)

RLIM Is a Candidate Dosage-Sensitive Gene for Individuals with Varying Duplications of Xq13, Intellectual Disability, and Distinct Facial Features

par Palmer, Elizabeth E., Carroll, Renee, Shaw, Marie, Kumar, Raman, Minoche, Andre E., Leffler, Melanie, Murray, Lucinda, Macintosh, Rebecca, Wright, Dale, Troedson, Chris, McKenzie, Fiona, Townshend, Sharron, Ward, Michelle, Nawaz, Urwah, Ravine, Anja, Runke, Cassandra K., Thorland, Erik C., Hummel, Marybeth, Foulds, Nicola, Pichon, Olivier, Isidor, Bertrand, Le Caignec, Cédric, Demeer, Bénédicte, Andrieux, Joris, Albarazi, Salam Hadah, Bye, Ann, Sachdev, Rani, Kirk, Edwin P., Cowley, Mark J., Field, Mike, Gecz, Jozef
Publié dans Am J Hum Genet (2020)

Architecture and evolution of a minute plant genome

par Ibarra-Laclette, Enrique, Lyons, Eric, Hernández-Guzmán, Gustavo, Pérez-Torres, Claudia Anahí, Carretero-Paulet, Lorenzo, Chang, Tien-Hao, Lan, Tianying, Welch, Andreanna J., Juárez, María Jazmín Abraham, Simpson, June, Fernández-Cortés, Araceli, Arteaga-Vázquez, Mario, Góngora-Castillo, Elsa, Acevedo-Hernández, Gustavo, Schuster, Stephan C., Himmelbauer, Heinz, Minoche, André E., Xu, Sen, Lynch, Michael, Oropeza-Aburto, Araceli, Cervantes-Pérez, Sergio Alan, de Jesús Ortega-Estrada, María, Cervantes-Luevano, Jacob Israel, Michael, Todd P., Mockler, Todd, Bryant, Douglas, Herrera-Estrella, Alfredo, Albert, Victor A., Herrera-Estrella, Luis
Publié dans Nature (2013)

Genome and transcriptome analysis of the Mesoamerican common bean and the role of gene duplications in establishing tissue and temporal specialization of genes

par Vlasova, Anna, Capella-Gutiérrez, Salvador, Rendón-Anaya, Martha, Hernández-Oñate, Miguel, Minoche, André E., Erb, Ionas, Câmara, Francisco, Prieto-Barja, Pablo, Corvelo, André, Sanseverino, Walter, Westergaard, Gastón, Dohm, Juliane C., Pappas, Georgios J., Saburido-Alvarez, Soledad, Kedra, Darek, Gonzalez, Irene, Cozzuto, Luca, Gómez-Garrido, Jessica, Aguilar-Morón, María A., Andreu, Nuria, Aguilar, O. Mario, Garcia-Mas, Jordi, Zehnsdorf, Maik, Vázquez, Martín P., Delgado-Salinas, Alfonso, Delaye, Luis, Lowy, Ernesto, Mentaberry, Alejandro, Vianello-Brondani, Rosana P., García, José Luís, Alioto, Tyler, Sánchez, Federico, Himmelbauer, Heinz, Santalla, Marta, Notredame, Cedric, Gabaldón, Toni, Herrera-Estrella, Alfredo, Guigó, Roderic
Publié dans Genome Biol (2016)

A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations

par Palmer, Elizabeth E., Kumar, Raman, Gordon, Christopher T., Shaw, Marie, Hubert, Laurence, Carroll, Renee, Rio, Marlène, Murray, Lucinda, Leffler, Melanie, Dudding-Byth, Tracy, Oufadem, Myriam, Lalani, Seema R., Lewis, Andrea M., Xia, Fan, Tam, Allison, Webster, Richard, Brammah, Susan, Filippini, Francesca, Pollard, John, Spies, Judy, Minoche, Andre E., Cowley, Mark J., Risen, Sarah, Powell-Hamilton, Nina N., Tusi, Jessica E., Immken, LaDonna, Nagakura, Honey, Bole-Feysot, Christine, Nitschké, Patrick, Garrigue, Alexandrine, de Saint Basile, Geneviève, Kivuva, Emma, Scott, Richard H., Rendon, Augusto, Munnich, Arnold, Newman, William, Kerr, Bronwyn, Besmond, Claude, Rosenfeld, Jill A., Amiel, Jeanne, Field, Michael, Gecz, Jozef
Publié dans Am J Hum Genet (2017)

De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome

par Palmer, Elizabeth E., Hong, Seungbeom, Al Zahrani, Fatema, Hashem, Mais O., Aleisa, Fajr A., Ahmed, Heba M. Jalal, Kandula, Tejaswi, Macintosh, Rebecca, Minoche, Andre E., Puttick, Clare, Gayevskiy, Velimir, Drew, Alexander P., Cowley, Mark J., Dinger, Marcel, Rosenfeld, Jill A., Xiao, Rui, Cho, Megan T., Yakubu, Suliat F., Henderson, Lindsay B., Guillen Sacoto, Maria J., Begtrup, Amber, Hamad, Muddathir, Shinawi, Marwan, Andrews, Marisa V., Jones, Marilyn C., Lindstrom, Kristin, Bristol, Ruth E., Kayani, Saima, Snyder, Molly, Villanueva, María Mercedes, Schteinschnaider, Angeles, Faivre, Laurence, Thauvin, Christel, Vitobello, Antonio, Roscioli, Tony, Kirk, Edwin P., Bye, Ann, Merzaban, Jasmeen, Jaremko, Łukas, Jaremko, Mariusz, Sachdev, Rani K., Alkuraya, Fowzan S., Arold, Stefan T.
Publié dans Am J Hum Genet (2019)

De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-progressive Neurocognitive Syndrome

par Palmer, Elizabeth E., Hong, Seungbeom, Al Zahrani, Fatema, Hashem, Mais O., Aleisa, Fajr A., Jalal Ahmed, Heba M., Kandula, Tejaswi, Macintosh, Rebecca, Minoche, Andre E., Puttick, Clare, Gayevskiy, Velimir, Drew, Alexander P., Cowley, Mark J., Dinger, Marcel, Rosenfeld, Jill A., Xiao, Rui, Cho, Megan T., Yakubu, Suliat F., Henderson, Lindsay B., Guillen Sacoto, Maria J., Begtrup, Amber, Hamad, Muddathir, Shinawi, Marwan, Andrews, Marisa V., Jones, Marilyn C., Lindstrom, Kristin, Bristol, Ruth E., Kayani, Saima, Snyder, Molly, Villanueva, Marıá Mercedes, Schteinschnaider, Angeles, Faivre, Laurence, Thauvin, Christel, Vitobello, Antonio, Roscioli, Tony, Kirk, Edwin P., Bye, Ann, Merzaban, Jasmeen, Jaremko, Łukasz, Jaremko, Mariusz, Sachdev, Rani K., Alkuraya, Fowzan S., Arold, Stefan T.
Publié dans Am J Hum Genet (2019)

Fatal perinatal mitochondrial cardiac failure caused by recurrent de novo duplications in the ATAD3 locus

par Frazier, Ann E., Compton, Alison G., Kishita, Yoshihito, Hock, Daniella H., Welch, AnneMarie E., Amarasekera, Sumudu S.C., Rius, Rocio, Formosa, Luke E., Imai-Okazaki, Atsuko, Francis, David, Wang, Min, Lake, Nicole J., Tregoning, Simone, Jabbari, Jafar S., Lucattini, Alexis, Nitta, Kazuhiro R., Ohtake, Akira, Murayama, Kei, Amor, David J., McGillivray, George, Wong, Flora Y., van der Knaap, Marjo S., Jeroen Vermeulen, R., Wiltshire, Esko J., Fletcher, Janice M., Lewis, Barry, Baynam, Gareth, Ellaway, Carolyn, Balasubramaniam, Shanti, Bhattacharya, Kaustuv, Freckmann, Mary-Louise, Arbuckle, Susan, Rodriguez, Michael, Taft, Ryan J., Sadedin, Simon, Cowley, Mark J., Minoche, André E., Calvo, Sarah E., Mootha, Vamsi K., Ryan, Michael T., Okazaki, Yasushi, Stroud, David A., Simons, Cas, Christodoulou, John, Thorburn, David R.
Publié dans Med (N Y) (2020)