Search Results - "Rory, Olson J"

Monoallelic Mutations to DNAJB11 Cause Atypical Autosomal-Dominant Polycystic Kidney Disease by Cornec-Le Gall, Emilie, Olson, Rory J., Besse, Whitney, Heyer, Christina M., Gainullin, Vladimir G., Smith, Jessica M., Audrézet, Marie-Pierre, Hopp, Katharina, Porath, Binu, Shi, Beili, Baheti, Saurabh, Senum, Sarah R., Arroyo, Jennifer, Madsen, Charles D., Férec, Claude, Joly, Dominique, Jouret, François, Fikri-Benbrahim, Oussamah, Charasse, Christophe, Coulibaly, Jean-Marie, Yu, Alan S., Khalili, Korosh, Pei, York, Somlo, Stefan, Le Meur, Yannick, Torres, Vicente E., Harris, Peter C.

“…Autosomal-dominant polycystic kidney disease (ADPKD) is characterized by the progressive development of kidney cysts, often resulting in end-stage renal…”
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Identification of skewed X chromosome inactivation using exome and transcriptome sequencing in patients with suspected rare genetic disease by Fadra, Numrah, Schultz-Rogers, Laura E, Chanana, Pritha, Cousin, Margot A, Macke, Erica L, Ferrer, Alejandro, Pinto E Vairo, Filippo, Olson, Rory J, Oliver, Gavin R, Mulvihill, Lindsay A, Jenkinson, Garrett, Klee, Eric W

“…X-chromosome inactivation (XCI) is an epigenetic process that occurs during early development in mammalian females by randomly silencing one of two copies of…”
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Childhood-onset dystonia-causing KMT2B variants result in a distinctive genomic hypermethylation profile by Ciolfi, Andrea, Foroutan, Aidin, Capuano, Alessandro, Pedace, Lucia, Travaglini, Lorena, Pizzi, Simone, Andreani, Marco, Miele, Evelina, Invernizzi, Federica, Reale, Chiara, Panteghini, Celeste, Iascone, Maria, Niceta, Marcello, Gavrilova, Ralitza H, Schultz-Rogers, Laura, Agolini, Emanuele, Bedeschi, Maria Francesca, Prontera, Paolo, Garibaldi, Matteo, Galosi, Serena, Leuzzi, Vincenzo, Soliveri, Paola, Olson, Rory J, Zorzi, Giovanna S, Garavaglia, Barbara M, Tartaglia, Marco, Sadikovic, Bekim

“…Dystonia is a clinically and genetically heterogeneous movement disorder characterized by sustained or intermittent muscle contractions causing abnormal, often…”
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Identification of AFG3L2 dominant optic atrophy following reanalysis of clinical exome sequencing by Brodsky, Michael C., Olson, Rory J., Asumda, Faizal Z., Lopour, Madeline Q.R., Schimmenti, Lisa A., Klee, Eric W.

“…To highlight the importance of the utility of clinical exome sequencing, and show how it led to the diagnosis of nonsyndromic autosomal dominant optic atrophy…”
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Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies by Stegmann, Jil D., Kalanithy, Jeshurun C., Dworschak, Gabriel C., Ishorst, Nina, Mingardo, Enrico, Lopes, Filipa M., Ho, Yee Mang, Grote, Phillip, Lindenberg, Tobias T., Yilmaz, Öznur, Channab, Khadija, Seltzsam, Steve, Shril, Shirlee, Hildebrandt, Friedhelm, Boschann, Felix, Heinen, André, Jolly, Angad, Myers, Katherine, McBride, Kim, Bekheirnia, Mir Reza, Bekheirnia, Nasim, Scala, Marcello, Morleo, Manuela, Nigro, Vincenzo, Torella, Annalaura, Pinelli, Michele, Capra, Valeria, Accogli, Andrea, Maitz, Silvia, Spano, Alice, Olson, Rory J., Klee, Eric W., Lanpher, Brendan C., Jang, Se Song, Chae, Jong-Hee, Steinbauer, Philipp, Rieder, Dietmar, Janecke, Andreas R., Vodopiutz, Julia, Vogel, Ida, Blechingberg, Jenny, Cohen, Jennifer L., Riley, Kacie, Klee, Victoria, Walsh, Laurence E., Begemann, Matthias, Elbracht, Miriam, Eggermann, Thomas, Stoppe, Arzu, Stuurman, Kyra, van Slegtenhorst, Marjon, Barakat, Tahsin Stefan, Mulhern, Maureen S., Sands, Tristan T., Cytrynbaum, Cheryl, Weksberg, Rosanna, Isidori, Federica, Pippucci, Tommaso, Severi, Giulia, Montanari, Francesca, Kruer, Michael C., Bakhtiari, Somayeh, Darvish, Hossein, Reutter, Heiko, Hagelueken, Gregor, Geyer, Matthias, Woolf, Adrian S., Posey, Jennifer E., Lupski, James R., Odermatt, Benjamin, Hilger, Alina C.

“…CELSR3 codes for a planar cell polarity protein. We describe twelve affected individuals from eleven independent families with bi-allelic variants in CELSR3 …”
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Utility of survival motor neuron ELISA for spinal muscular atrophy clinical and preclinical analyses by Kobayashi, Dione T, Olson, Rory J, Sly, Laurel, Swanson, Chad J, Chung, Brett, Naryshkin, Nikolai, Narasimhan, Jana, Bhattacharyya, Anuradha, Mullenix, Michael, Chen, Karen S

“…Genetic defects leading to the reduction of the survival motor neuron protein (SMN) are a causal factor for Spinal Muscular Atrophy (SMA). While there are a…”
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Synergistic Genetic Interactions between Pkhd1 and Pkd1 Result in an ARPKD-Like Phenotype in Murine Models by Olson, Rory J, Hopp, Katharina, Wells, Harrison, Smith, Jessica M, Furtado, Jessica, Constans, Megan M, Escobar, Diana L, Geurts, Aron M, Torres, Vicente E, Harris, Peter C

“…Autosomal recessive polycystic kidney disease (ARPKD) and autosomal dominant polycystic kidney disease (ADPKD) are genetically distinct, with ADPKD usually…”
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Prevalence, Penetrance, and Phenotypic Manifestation of Cardiomyopathy-Associated Genetic Variants in the General Population: Insights from a Mayo Clinic Biobank Study by Figueiral, Marta, Paldino, Alessia, Wilke, Matheus Vernet Machado Bressan, Farris, Joseph D., Verheijen, Jan, Giudicessi, John R., Ackerman, Michael J., Olson, Janet E., Arroyo, Jennifer, Olson, Rory J., Klee, Eric W., Pereira, Naveen L.

“…To determine the prevalence, penetrance, and disease expression of cardiomyopathy-related genetic variants in an unselected, richly phenotyped Mayo Clinic…”
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HDAC9 structural variants disrupting TWIST1 transcriptional regulation lead to craniofacial and limb malformations by Hirsch, Naama, Dahan, Idit, D'haene, Eva, Avni, Matan, Vergult, Sarah, Vidal-García, Marta, Magini, Pamela, Graziano, Claudio, Severi, Giulia, Bonora, Elena, Nardone, Anna Maria, Brancati, Francesco, Fernández-Jaén, Alberto, Rory, Olson J, Hallgrímsson, Benedikt, Birnbaum, Ramon Y

“…Structural variants (SVs) can affect protein-coding sequences as well as gene regulatory elements. However, SVs disrupting protein-coding sequences that also…”
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Semiautomated approach focused on new genomic information results in time and effort-efficient reannotation of negative exome data by Ferrer, Alejandro, Duffy, Patrick, Olson, Rory J., Meiners, Michael A., Schultz-Rogers, Laura, Macke, Erica L., Safgren, Stephanie, Morales-Rosado, Joel A., Cousin, Margot A., Oliver, Gavin R., Rider, David, Williams, Megan, Pichurin, Pavel N., Deyle, David R., Morava, Eva, Gavrilova, Ralitza H., Dhamija, Radhika, Wierenga, Klass J., Lanpher, Brendan C., Babovic-Vuksanovic, Dusica, Kaiwar, Charu, Vitek, Carolyn R., McAllister, Tammy M., Wick, Myra J., Schimmenti, Lisa A., Lazaridis, Konstantinos N., Vairo, Filippo Pinto e, Klee, Eric W.

“…Most rare disease patients (75–50%) undergoing genomic sequencing remain unsolved, often due to lack of information about variants identified. Data review over…”
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De novo PBX1 variant in a patient with glaucoma, kidney anomalies, and developmental delay: An expansion of the CAKUTHED phenotype by Safgren, Stephanie L., Olson, Rory J., Pinto e Vairo, Filippo, Bothun, Erick D., Hanna, Christian, Klee, Eric W., Schimmenti, Lisa A.

“…An infant was referred for evaluation of congenital glaucoma and corneal clouding. In addition, he had a pelvic kidney, hypotonia, patent ductus arteriosus,…”
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ACMG/AMP variant classification framework in arginase 1 deficiency: Implications for birth prevalence estimates and diagnostics by Cameron, Jessie M., Osundiji, Mayowa Azeez, Olson, Rory J., Olarewaju, Bukola A., Schulze, Andreas

“…Arginase 1 (ARG1) deficiency manifests with hyperargininemia and progressive neurological impairment. Recent estimates of birth prevalence using allele…”
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UBA2 variants underlie a recognizable syndrome with variable aplasia cutis congenita and ectrodactyly by Schnur, Rhonda E., Yousaf, Sairah, Liu, James, Chung, Wendy K., Rhodes, Lindsay, Marble, Michael, Zambrano, Regina M., Sobreira, Nara, Jayakar, Parul, Pierpont, Mary Ella, Schultz, Matthew J., Pichurin, Pavel N., Olson, Rory J., Graham, Gail E., Osmond, Matthew, Contreras-García, Gustavo A., Campo-Neira, Karina A., Peñaloza-Mantilla, Camilo A., Flage, Mark, Kuppa, Srikar, Navarro, Karina, Sacoto, Maria J. Guillen, Wentzensen, Ingrid M., Scarano, Maria I., Juusola, Jane, Prada, Carlos E., Hufnagel, Robert B.

“…Purpose The human chromosome 19q13.11 deletion syndrome is associated with a variable phenotype that includes aplasia cutis congenita (ACC) and ectrodactyly as…”
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Impact of integrated translational research on clinical exome sequencing by Klee, Eric W., Cousin, Margot A., Pinto e Vairo, Filippo, Morales-Rosado, Joel A., Macke, Erica L., Jenkinson, W. Garrett, Ferrer, Alejandro, Schultz-Rogers, Laura E., Olson, Rory J., Oliver, Gavin R., Sigafoos, Ashley N., Schwab, Tanya L., Zimmermann, Michael T., Urrutia, Raul A., Kaiwar, Charu, Gupta, Aditi, Blackburn, Patrick R., Boczek, Nicole J., Prochnow, Carri A., Lowy, Rebecca J., Mulvihill, Lindsay A., McAllister, Tammy M., Aoudia, Stacy L., Kruisselbrink, Teresa M., Gunderson, Lauren B., Kemppainen, Jennifer L., Fisher, Laura J., Tarnowski, Jessica M., Hager, Megan M., Kroc, Sarah A., Bertsch, Nicole L., Agre, Katherine E., Jackson, Jessica L., Macklin-Mantia, Sarah K., Murphree, Marine I., Rust, Laura M., Summer Bolster, Jolene M., Beck, Scott A., Atwal, Paldeep S., Ellingson, Marissa S., Barnett, Sarah S., Rasmussen, Kristen J., Lahner, Carrie A., Niu, Zhiyv, Hasadsri, Linda, Ferber, Matthew J., Marcou, Cherisse A., Clark, Karl J., Pichurin, Pavel N., Deyle, David R., Morava-Kozicz, Eva, Gavrilova, Ralitza H., Dhamija, Radhika, Wierenga, Klaas J., Lanpher, Brendan C., Babovic-Vuksanovic, Dusica, Farrugia, Gianrico, Schimmenti, Lisa A., Stewart, A. Keith, Lazaridis, Konstantinos N.

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Recurrent ganglioneuroma in PTPN11‐associated Noonan syndrome: A case report and literature review by Morales‐Rosado, Joel A., Singh, Herchran, Olson, Rory J., Larsen, Brandon T., Hager, Megan M., Klee, Eric W., Dhamija, Radhika

“…Noonan syndrome (NS) is an autosomal dominant condition with variable expressivity most commonly due to a germline pathogenic variant in PTPN11, which encodes…”
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The Complexity of Familial Inheritance in Pectus Excavatum: A Ten-Family Exome Sequencing Analysis by Farina, Juan M., Olson, Rory J., Dhamija, Radhika, Bofferding, Anne, Sekulic, Aleksandar, Egan, Jan B., Jaroszewski, Dawn E.

“…Background/Objectives: Pectus excavatum (PEx) is considered, at least partially, a familial disorder. A variety of inheritance patterns, associations with…”
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Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of KCNH5 by Happ, Hannah C., Sadleir, Lynette G., Zemel, Matthew, de Valles-Ibáñez, Guillem, Hildebrand, Michael S., McConkie-Rosell, Allyn, McDonald, Marie, May, Halie, Sands, Tristan, Aggarwal, Vimla, Elder, Christopher, Feyma, Timothy, Bayat, Allan, Møller, Rikke S., Fenger, Christina D., Klint Nielsen, Jens Erik, Datta, Anita N., Gorman, Kathleen M., King, Mary D., Linhares, Natalia D., Burton, Barbara K., Paras, Andrea, Ellard, Sian, Rankin, Julia, Shukla, Anju, Majethia, Purvi, Olson, Rory J., Muthusamy, Karthik, Schimmenti, Lisa A., Starnes, Keith, Sedláčková, Lucie, Štěrbová, Katalin, Vlčková, Markéta, Laššuthová, Petra, Jahodová, Alena, Porter, Brenda E., Couque, Nathalie, Colin, Estelle, Prouteau, Clément, Collet, Corinne, Smol, Thomas, Caumes, Roseline, Vansenne, Fleur, Bisulli, Francesca, Licchetta, Laura, Person, Richard, Torti, Erin, McWalter, Kirsty, Webster, Richard, Gerard, Elizabeth E., Lesca, Gaetan, Szepetowski, Pierre, Scheffer, Ingrid E., Mefford, Heather C., Carvill, Gemma L.

“…encodes the voltage-gated potassium channel EAG2/Kv10.2. We aimed to delineate the neurodevelopmental and epilepsy phenotypic spectrum associated with de novo…”
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BOREALIS: an R/Bioconductor package to detect outlier methylation from bisulfite sequencing data [version 1; peer review: 2 approved with reservations] by Oliver, Gavin R., Jenkinson, W. Garrett, Olson, Rory J., Schultz-Rogers, Laura E., Klee, Eric W.

“…Background: Rare genetic disease studies have benefited from the era of high throughput sequencing. DNA sequencing results in genetic diagnosis of 18-40% of…”
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Impact of integrated translational research on clinical exome sequencing by Klee, Eric W., Cousin, Margot A., Pinto e Vairo, Filippo, Morales-Rosado, Joel A., Macke, Erica L., Jenkinson, W. Garrett, Ferrer, Alejandro, Schultz-Rogers, Laura E., Olson, Rory J., Oliver, Gavin R., Sigafoos, Ashley N., Schwab, Tanya L., Zimmermann, Michael T., Urrutia, Raul A., Kaiwar, Charu, Gupta, Aditi, Blackburn, Patrick R., Boczek, Nicole J., Prochnow, Carri A., Lowy, Rebecca J., Mulvihill, Lindsay A., McAllister, Tammy M., Aoudia, Stacy L., Kruisselbrink, Teresa M., Gunderson, Lauren B., Kemppainen, Jennifer L., Fisher, Laura J., Tarnowski, Jessica M., Hager, Megan M., Kroc, Sarah A., Bertsch, Nicole L., Agre, Katherine E., Jackson, Jessica L., Macklin-Mantia, Sarah K., Murphree, Marine I., Rust, Laura M., Summer Bolster, Jolene M., Beck, Scott A., Atwal, Paldeep S., Ellingson, Marissa S., Barnett, Sarah S., Rasmussen, Kristen J., Lahner, Carrie A., Niu, Zhiyv, Hasadsri, Linda, Ferber, Matthew J., Marcou, Cherisse A., Clark, Karl J., Pichurin, Pavel N., Deyle, David R., Morava-Kozicz, Eva, Gavrilova, Ralitza H., Dhamija, Radhika, Wierenga, Klaas J., Lanpher, Brendan C., Babovic-Vuksanovic, Dusica, Farrugia, Gianrico, Schimmenti, Lisa A., Stewart, A. Keith, Lazaridis, Konstantinos N.

“…Purpose Exome sequencing often identifies pathogenic genetic variants in patients with undiagnosed diseases. Nevertheless, frequent findings of variants of…”
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Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage Sensing and Pore Domain of KCNH5 by Happ, Hannah C, Sadleir, Lynette G, Zemel, Matthew, de Valles-Ibáñez, Guillem, Hildebrand, Michael S, McConkie-Rosell, Allyn, McDonald, Marie, May, Halie, Sands, Tristan, Aggarwal, Vimla, Elder, Christopher, Feyma, Timothy, Bayat, Allan, Møller, Rikke S, Fenger, Christina D, Klint Nielsen, Jens Erik, Datta, Anita N, Gorman, Kathleen M, King, Mary D, Linhares, Natalia, Burton, Barbara K, Paras, Andrea, Ellard, Sian, Rankin, Julia, Shukla, Anju, Majethia, Purvi, Olson, Rory J, Muthusamy, Karthik, Schimmenti, Lisa A, Starnes, Keith, Sedlackova, Lucie, Sterbova, Katalin, Vlckova, Marketa, Lassuthova, Petra, Jahodova, Alena, Porter, Brenda E., Couque, Nathalie, Colin, Estelle, Prouteau, Clément, Collet, Corinne, Smol, Thomas, Caumes, Roseline, Vansenne, Fleur, Bisulli, Francesca, Licchetta, Laura, Person, Richard, Torti, Erin, McWalter, Kirsty, Webster, Richard, Gerard, Elizabeth E, Lesca, Gaetan, Szepetowski, Pierre, Scheffer, Ingrid E, Mefford, Heather C, Carvill, Gemma L

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