Search Results - "Stenton, Sarah L"

Genetics of mitochondrial diseases: Identifying mutations to help diagnosis by Stenton, Sarah L., Prokisch, Holger

“…Mitochondrial diseases are amongst the most genetically and phenotypically diverse groups of inherited diseases. The vast phenotypic overlap with other disease…”
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Leigh Syndrome: A Study of 209 Patients at the Beijing Children's Hospital by Stenton, Sarah L., Zou, Ying, Cheng, Hua, Liu, Zhimei, Wang, Junling, Shen, Danmin, Jin, Hong, Ding, Changhong, Tang, Xiaolu, Sun, Suzhen, Han, Hong, Ma, Yanli, Zhang, Weihua, Jin, Ruifeng, Wang, Hua, Sun, Dan, Lv, Jun Lan, Prokisch, Holger, Fang, Fang

“…Objective Leigh syndrome (LS) is a heterogeneous neurodegenerative disease and the most frequent pediatric manifestation of mitochondrial disease. In the…”
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Expanding the clinical and genetic spectrum of FDXR deficiency by functional validation of variants of uncertain significance by Stenton, Sarah L., Piekutowska‐Abramczuk, Dorota, Kulterer, Lea, Kopajtich, Robert, Claeys, Kristl G., Ciara, Elżbieta, Eisen, Johannes, Płoski, Rafał, Pronicka, Ewa, Malczyk, Katarzyna, Wagner, Matias, Wortmann, Saskia B., Prokisch, Holger

“…Ferrodoxin reductase (FDXR) deficiency is a mitochondrial disease described in recent years primarily in association with optic atrophy, acoustic neuropathy,…”
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Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases by Tan, Jing, Wagner, Matias, Stenton, Sarah L., Strom, Tim M., Wortmann, Saskia B., Prokisch, Holger, Meitinger, Thomas, Oexle, Konrad, Klopstock, Thomas

“…Mitochondrial disorders are a group of rare diseases, caused by nuclear or mitochondrial DNA mutations. Their marked clinical and genetic heterogeneity as well…”
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Case Report: Rapid Treatment of Uridine-Responsive Epileptic Encephalopathy Caused by CAD Deficiency by Zhou, Ling, Deng, Jie, Stenton, Sarah L, Zhou, Ji, Li, Hua, Chen, Chunhong, Prokisch, Holger, Fang, Fang

“…We present two unrelated Chinese patients with CAD deficiency manifesting with a triad of infantile-onset psychomotor developmental delay with regression,…”
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First-tier next-generation sequencing for newborn screening: An important role for biochemical second-tier testing by Stenton, Sarah L., Campagna, Madelynn, Philippakis, Anthony, O'Donnell-Luria, Anne, Gelb, Michael H.

“…There is discussion of expanding newborn screening (NBS) through the use of genomic sequence data; yet, challenges remain in the interpretation of DNA…”
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NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses by Zhou, Ji, Li, Jiuwei, Stenton, Sarah L, Ren, Xiaotun, Gong, Shuai, Fang, Fang, Prokisch, Holger

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Corrigendum to “Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases” [EBioMedicine 54 (2020) 102730] by Tan, Jing, Wagner, Matias, Stenton, Sarah L., Strom, Tim M., Wortmann, Saskia B., Prokisch, Holger, Meitinger, Thomas, Oexle, Konrad, Klopstock, Thomas

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The genetics of mitochondrial disease: dissecting mitochondrial pathology using multi‐omic pipelines by Alston, Charlotte L, Stenton, Sarah L, Hudson, Gavin, Prokisch, Holger, Taylor, Robert W

“…Mitochondria play essential roles in numerous metabolic pathways including the synthesis of adenosine triphosphate through oxidative phosphorylation…”
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The diagnosis of inborn errors of metabolism by an integrative “multi‐omics” approach: A perspective encompassing genomics, transcriptomics, and proteomics by Stenton, Sarah L., Kremer, Laura S., Kopajtich, Robert, Ludwig, Christina, Prokisch, Holger

“…Given the rapidly decreasing cost and increasing speed and accessibility of massively parallel technologies, the integration of comprehensive genomic,…”
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Pediatric Leigh Syndrome: Neuroimaging Features and Genetic Correlations by Stenton, Sarah L., Zou, Ying, Cheng, Hua, Prokisch, Holger, Fang, Fang

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The Clinical Application of RNA Sequencing in Genetic Diagnosis of Mendelian Disorders by Stenton, Sarah L., Prokisch, Holger

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Impaired complex I repair causes recessive Leber's hereditary optic neuropathy by Stenton, Sarah L, Sheremet, Natalia L, Catarino, Claudia B, Andreeva, Natalia A, Assouline, Zahra, Barboni, Piero, Barel, Ortal, Berutti, Riccardo, Bychkov, Igor, Caporali, Leonardo, Capristo, Mariantonietta, Carbonelli, Michele, Cascavilla, Maria L, Charbel Issa, Peter, Freisinger, Peter, Gerber, Sylvie, Ghezzi, Daniele, Graf, Elisabeth, Heidler, Juliana, Hempel, Maja, Heon, Elise, Itkis, Yulya S, Javasky, Elisheva, Kaplan, Josseline, Kopajtich, Robert, Kornblum, Cornelia, Kovacs-Nagy, Reka, Krylova, Tatiana D, Kunz, Wolfram S, La Morgia, Chiara, Lamperti, Costanza, Ludwig, Christina, Malacarne, Pedro F, Maresca, Alessandra, Mayr, Johannes A, Meisterknecht, Jana, Nevinitsyna, Tatiana A, Palombo, Flavia, Pode-Shakked, Ben, Shmelkova, Maria S, Strom, Tim M, Tagliavini, Francesca, Tzadok, Michal, van der Ven, Amelie T, Vignal-Clermont, Catherine, Wagner, Matias, Zakharova, Ekaterina Y, Zhorzholadze, Nino V, Rozet, Jean-Michel, Carelli, Valerio, Tsygankova, Polina G, Klopstock, Thomas, Wittig, Ilka, Prokisch, Holger

“…Leber's hereditary optic neuropathy (LHON) is the most frequent mitochondrial disease and was the first to be genetically defined by a point mutation in…”
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Dystonia and mitochondrial disease: the movement disorder connection revisited in 900 genetically diagnosed patients by Indelicato, Elisabetta, Schlieben, Lea D., Stenton, Sarah L., Boesch, Sylvia, Skorvanek, Matej, Necpal, Jan, Jech, Robert, Winkelmann, Juliane, Prokisch, Holger, Zech, Michael

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The phenotypic spectrum of COX20-associated mitochondrial disorder by Ban, Rui, Kopajtich, Robert, Lv, Junlan, Stenton, Sarah L, Shimura, Masaru, Wang, Zhaoxia, Yuan, Yun, Wang, Junling, Han, Xiaodi, Liu, Zhimei, Shi, Qiang, Pu, Chuanqiang, Prokisch, Holger, Fang, Fang, Elstner, Matthias

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Clinical implementation of RNA sequencing for Mendelian disease diagnostics by Yépez, Vicente A, Gusic, Mirjana, Kopajtich, Robert, Mertes, Christian, Smith, Nicholas H, Alston, Charlotte L, Ban, Rui, Beblo, Skadi, Berutti, Riccardo, Blessing, Holger, Ciara, Elżbieta, Distelmaier, Felix, Freisinger, Peter, Häberle, Johannes, Hayflick, Susan J, Hempel, Maja, Itkis, Yulia S, Kishita, Yoshihito, Klopstock, Thomas, Krylova, Tatiana D, Lamperti, Costanza, Lenz, Dominic, Makowski, Christine, Mosegaard, Signe, Müller, Michaela F, Muñoz-Pujol, Gerard, Nadel, Agnieszka, Ohtake, Akira, Okazaki, Yasushi, Procopio, Elena, Schwarzmayr, Thomas, Smet, Joél, Staufner, Christian, Stenton, Sarah L, Strom, Tim M, Terrile, Caterina, Tort, Frederic, Van Coster, Rudy, Vanlander, Arnaud, Wagner, Matias, Xu, Manting, Fang, Fang, Ghezzi, Daniele, Mayr, Johannes A, Piekutowska-Abramczuk, Dorota, Ribes, Antonia, Rötig, Agnès, Taylor, Robert W, Wortmann, Saskia B, Murayama, Kei, Meitinger, Thomas, Gagneur, Julien, Prokisch, Holger

“…Lack of functional evidence hampers variant interpretation, leaving a large proportion of individuals with a suspected Mendelian disorder without genetic…”
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DNAJC30 defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome by Stenton, Sarah L, Tesarova, Marketa, Sheremet, Natalia L, Catarino, Claudia B, Carelli, Valerio, Ciara, Elżbieta, Curry, Kathryn, Engvall, Martin, Fleming, Leah R, Freisinger, Peter, Iwanicka-Pronicka, Katarzyna, Jurkiewicz, Elżbieta, Klopstock, Thomas, Koenig, Mary K, Kolářová, Hana, Kousal, Bohdan, Krylova, Tatiana, La Morgia, Chiara, Nosková, Lenka, Piekutowska-Abramczuk, Dorota, Russo, Sam N, Stránecký, Viktor, Tóthová, Iveta, Träisk, Frank, Prokisch, Holger

“…The recent description of biallelic DNAJC30 variants in Leber hereditary optic neuropathy (LHON) and Leigh syndrome challenged the longstanding assumption for…”
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Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive course by Esposito, Alessandro, Falace, Antonio, Wagner, Matias, Gal, Moran, Mei, Davide, Conti, Valerio, Pisano, Tiziana, Aprile, Davide, Cerullo, Maria Sabina, De Fusco, Antonio, Giovedì, Silvia, Seibt, Annette, Magen, Daniella, Polster, Tilman, Eran, Ayelet, Stenton, Sarah L, Fiorillo, Chiara, Ravid, Sarit, Mayatepek, Ertan, Hafner, Hava, Wortmann, Saskia, Levanon, Erez Y, Marini, Carla, Mandel, Hanna, Benfenati, Fabio, Distelmaier, Felix, Fassio, Anna, Guerrini, Renzo

“…Ohtahara syndrome, early infantile epileptic encephalopathy with a suppression burst EEG pattern, is an aetiologically heterogeneous condition starting in the…”
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Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy by Töpf, Ana, Cox, Dan, Zaharieva, Irina T., Di Leo, Valeria, Sarparanta, Jaakko, Jonson, Per Harald, Sealy, Ian M., Smolnikov, Andrei, White, Richard J., Vihola, Anna, Savarese, Marco, Merteroglu, Munise, Wali, Neha, Laricchia, Kristen M., Venturini, Cristina, Vroling, Bas, Stenton, Sarah L., Cummings, Beryl B., Harris, Elizabeth, Marini-Bettolo, Chiara, Diaz-Manera, Jordi, Henderson, Matt, Barresi, Rita, Duff, Jennifer, England, Eleina M., Patrick, Jane, Al-Husayni, Sundos, Biancalana, Valerie, Beggs, Alan H., Bodi, Istvan, Bommireddipalli, Shobhana, Bönnemann, Carsten G., Cairns, Anita, Chiew, Mei-Ting, Claeys, Kristl G., Cooper, Sandra T., Davis, Mark R., Donkervoort, Sandra, Erasmus, Corrie E., Fassad, Mahmoud R., Genetti, Casie A., Grosmann, Carla, Jungbluth, Heinz, Kamsteeg, Erik-Jan, Lornage, Xavière, Löscher, Wolfgang N., Malfatti, Edoardo, Manzur, Adnan, Martí, Pilar, Mongini, Tiziana E., Muelas, Nuria, Nishikawa, Atsuko, O’Donnell-Luria, Anne, Ogonuki, Narumi, O’Grady, Gina L., O’Heir, Emily, Paquay, Stéphanie, Phadke, Rahul, Pletcher, Beth A., Romero, Norma B., Schouten, Meyke, Shah, Snehal, Smuts, Izelle, Sznajer, Yves, Tasca, Giorgio, Taylor, Robert W., Tuite, Allysa, Van den Bergh, Peter, VanNoy, Grace, Voermans, Nicol C., Wanschitz, Julia V., Wraige, Elizabeth, Yoshimura, Kimihiko, Oates, Emily C., Nakagawa, Osamu, Nishino, Ichizo, Laporte, Jocelyn, Vilchez, Juan J., MacArthur, Daniel G., Sarkozy, Anna, Cordell, Heather J., Udd, Bjarne, Busch-Nentwich, Elisabeth M., Muntoni, Francesco, Straub, Volker

“…In digenic inheritance, pathogenic variants in two genes must be inherited together to cause disease. Only very few examples of digenic inheritance have been…”
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Genome Sequencing for Diagnosing Rare Diseases by Wojcik, Monica H., Lemire, Gabrielle, Berger, Eva, Zaki, Maha S., Wissmann, Mariel, Win, Wathone, White, Susan M., Weisburd, Ben, Wieczorek, Dagmar, Waddell, Leigh B., Verboon, Jeffrey M., VanNoy, Grace E., Töpf, Ana, Tan, Tiong Yang, Syrbe, Steffen, Strehlow, Vincent, Straub, Volker, Stenton, Sarah L., Snow, Hana, Singer-Berk, Moriel, Silver, Josh, Shril, Shirlee, Seaby, Eleanor G., Schneider, Ronen, Sankaran, Vijay G., Sanchis-Juan, Alba, Russell, Kathryn A., Reinson, Karit, Ravenscroft, Gianina, Radtke, Maximilian, Popp, Denny, Polster, Tilman, Platzer, Konrad, Pierce, Eric A., Place, Emily M., Pajusalu, Sander, Pais, Lynn, Õunap, Katrin, Osei-Owusu, Ikeoluwa, Opperman, Henry, Okur, Volkan, Oja, Kaisa Teele, O’Leary, Melanie, O’Heir, Emily, Morel, Chantal F., Merkenschlager, Andreas, Marchant, Rhett G., Mangilog, Brian E., Madden, Jill A., MacArthur, Daniel, Lovgren, Alysia, Lerner-Ellis, Jordan P., Lin, Jasmine, Laing, Nigel, Hildebrandt, Friedhelm, Hentschel, Julia, Groopman, Emily, Goodrich, Julia, Gleeson, Joseph G., Ghaoui, Roula, Genetti, Casie A., Gburek-Augustat, Janina, Gazda, Hanna T., Ganesh, Vijay S., Ganapathi, Mythily, Gallacher, Lyndon, Fu, Jack M., Evangelista, Emily, England, Eleina, Donkervoort, Sandra, DiTroia, Stephanie, Cooper, Sandra T., Chung, Wendy K., Christodoulou, John, Chao, Katherine R., Cato, Liam D., Bujakowska, Kinga M., Bryen, Samantha J., Brand, Harrison, Bönnemann, Carsten G., Beggs, Alan H., Baxter, Samantha M., Bartolomaeus, Tobias, Agrawal, Pankaj B., Talkowski, Michael, Austin-Tse, Christina, Abou Jamra, Rami, Rehm, Heidi L., O’Donnell-Luria, Anne

“…Genetic diagnosis of rare diseases is made through a variety of methods. This study gauged the diagnostic yield of genome sequencing after negative results…”
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