Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia
Latham, Sharissa L., Ehmke, Nadja, Reinke, Patrick Y. A., Taft, Manuel H., Eicke, Dorothee, Reindl, Theresia, Stenzel, Werner, Lyons, Michael J., Friez, Michael J., Lee, Jennifer A., Hecker, Ramona, Frühwald, Michael C., Becker, Kerstin, Neuhann, Teresa M., Horn, Denise, Schrock, Evelin, Niehaus, Indra, Sarnow, Katharina, Grützmann, Konrad, Gawehn, Luzie, Klink, Barbara, Rump, Andreas, Chaponnier, Christine, Figueiredo, Constanca, Knöfler, Ralf, Manstein, Dietmar J., Di Donato, Nataliya
Published in Nature communications (12.10.2018)
Published in Nature communications (12.10.2018)
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Journal Article
Highly sensitive liquid biopsy Duplex sequencing complements tissue biopsy to enhance detection of clinically relevant genetic variants
Hallermayr, Ariane, Neuhann, Teresa M, Steinke-Lange, Verena, Scharf, Florentine, Laner, Andreas, Ewald, Roland, Liesfeld, Ben, Holinski-Feder, Elke, Pickl, Julia M A
Published in Frontiers in oncology (27.12.2022)
Published in Frontiers in oncology (27.12.2022)
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Prospective evaluation of NGS-based sequencing in epilepsy patients: results of seven NASGE-associated diagnostic laboratories
Witzel, Maximilian G W, Gebhard, Christian, Wenzel, Sören, Kleier, Saskia, Eichhorn, Birgit, Lorenz, Peter, von der Heyden, Laura, Kuhn, Marius, Luedeke, Manuel, Döcker, Miriam, Jüngling, Jerome, Schulte, Björn, Hörtnagel, Konstanze, Glaubitz, Ralf, Knippenberger, Sarah, Teubert, Anna, Abicht, Angela, Neuhann, Teresa M
Published in Frontiers in neurology (06.12.2023)
Published in Frontiers in neurology (06.12.2023)
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Journal Article
Author Correction: Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia
Latham, Sharissa L., Ehmke, Nadja, Reinke, Patrick Y. A., Taft, Manuel H., Eicke, Dorothee, Reindl, Theresia, Stenzel, Werner, Lyons, Michael J., Friez, Michael J., Lee, Jennifer A., Hecker, Ramona, Frühwald, Michael C., Becker, Kerstin, Neuhann, Teresa M., Horn, Denise, Schrock, Evelin, Niehaus, Indra, Sarnow, Katharina, Grützmann, Konrad, Gawehn, Luzie, Klink, Barbara, Rump, Andreas, Chaponnier, Christine, Figueiredo, Constanca, Knöfler, Ralf, Manstein, Dietmar J., Di Donato, Nataliya
Published in Nature communications (19.11.2018)
Published in Nature communications (19.11.2018)
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Journal Article
A de novo 1q23.3-q24.2 deletion combined with a GORAB missense mutation causes a distinctive phenotype with cutis laxa
Al-Bughaili, Mohammed, Neuhann, Teresa M, Flöttmann, Ricarda, Mundlos, Stefan, Spielmann, Malte, Kornak, Uwe, Fischer-Zirnsak, Björn
Published in Journal of human genetics (01.02.2017)
Published in Journal of human genetics (01.02.2017)
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Journal Article
Germline truncating-mutations in BRCA1 and MSH6 in a patient with early onset endometrial cancer
Kast, Karin, Neuhann, Teresa M, Görgens, Heike, Becker, Kerstin, Keller, Katja, Klink, Barbara, Aust, Daniela, Distler, Wolfgang, Schröck, Evelin, Schackert, Hans K
Published in BMC cancer (20.11.2012)
Published in BMC cancer (20.11.2012)
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Journal Article
Macrocerebellum: Significance and Pathogenic Considerations
Poretti, Andrea, Mall, Volker, Smitka, Martin, Grunt, Sebastian, Risen, Sarah, Toelle, Sandra P., Benson, Jane E., Yoshida, Shoko, Jung, Nikolai H., Tinschert, Sigrid, Neuhann, Teresa M., Rauch, Anita, Steinlin, Maja, Meoded, Avner, Huisman, Thierry A. G. M., Boltshauser, Eugen
Published in Cerebellum (London, England) (01.12.2012)
Published in Cerebellum (London, England) (01.12.2012)
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Journal Article
Phenotypic and Genetic Spectrum in 309 Consecutive Pediatric Patients with Inherited Retinal Disease
Priglinger, Claudia S, Gerhardt, Maximilian J, Priglinger, Siegfried G, Schaumberger, Markus, Neuhann, Teresa M, Bolz, Hanno J, Mehraein, Yasmin, Rudolph, Guenther
Published in International journal of molecular sciences (14.11.2024)
Published in International journal of molecular sciences (14.11.2024)
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Journal Article
Case Report: DPM1-CDG: Novel Variant with Severe Phenotype and Literature Review
Lausmann, Hanna, Zacharias, Martin, Neuhann, Teresa M., Locher, Melanie K., Schettler, Karl F.
Published in Frontiers in genetics (13.07.2022)
Published in Frontiers in genetics (13.07.2022)
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Journal Article
Recurrent de novo BICD2 mutation associated with arthrogryposis multiplex congenita and bilateral perisylvian polymicrogyria
Ravenscroft, Gianina, Di Donato, Nataliya, Hahn, Gabriele, Davis, Mark R, Craven, Paul D, Poke, Gemma, Neas, Katherine R, Neuhann, Teresa M, Dobyns, William B, Laing, Nigel G
Published in Neuromuscular disorders : NMD (01.11.2016)
Published in Neuromuscular disorders : NMD (01.11.2016)
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Journal Article
Impact of cfDNA Reference Materials on Clinical Performance of Liquid Biopsy NGS Assays
Hallermayr, Ariane, Keßler, Thomas, Fujera, Moritz, Liesfeld, Ben, Bernstein, Samuel, von Ameln, Simon, Schanze, Denny, Steinke-Lange, Verena, Pickl, Julia M. A, Neuhann, Teresa M, Holinski-Feder, Elke
Published in Cancers (01.10.2023)
Published in Cancers (01.10.2023)
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Journal Article
ADAMTSL4-associated isolated ectopia lentis: Further patients, novel mutations and a detailed phenotype description
Neuhann, Teresa M., Stegerer, Annette, Riess, Angelika, Blair, Edward, Martin, Thomas, Wieser, Stefanie, Kläs, Rüdiger, Bouman, Arjan, Kuechler, Alma, Rittinger, Olaf
Published in American journal of medical genetics. Part A (01.10.2015)
Published in American journal of medical genetics. Part A (01.10.2015)
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Journal Article
A novel germline KIT mutation (p.L576P) in a family presenting with juvenile onset of multiple gastrointestinal stromal tumors, skin hyperpigmentations, and esophageal stenosis
Neuhann, Teresa M, Mansmann, Veit, Merkelbach-Bruse, Sabine, Klink, Barbara, Hellinger, Achim, Höffkes, Heinz-Gert, Wardelmann, Eva, Schildhaus, Hans-Ulrich, Tinschert, Sigrid
Published in The American journal of surgical pathology (01.06.2013)
Published in The American journal of surgical pathology (01.06.2013)
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Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency
Fasham, James, Lin, Siying, Ghosh, Promita, Radio, Francesca Clementina, Farrow, Emily G., Thiffault, Isabelle, Kussman, Jennifer, Zhou, Dihong, Hemming, Rick, Zahka, Kenneth, Chioza, Barry A., Rawlins, Lettie E., Wenger, Olivia K., Gunning, Adam C., Pizzi, Simone, Onesimo, Roberta, Zampino, Giuseppe, Barker, Emily, Osawa, Natasha, Rodriguez, Megan Christine, Neuhann, Teresa M., Zackai, Elaine H., Keena, Beth, Capasso, Jenina, Levin, Alex V., Bhoj, Elizabeth, Li, Dong, Hakonarson, Hakon, Wentzensen, Ingrid M., Jackson, Adam, Chandler, Kate E., Coban-Akdemir, Zeynep H., Posey, Jennifer E., Banka, Siddharth, Lupski, James R., Sheppard, Sarah E., Tartaglia, Marco, Triggs-Raine, Barbara, Crosby, Andrew H., Baple, Emma L.
Published in Genetics in medicine (01.03.2022)
Published in Genetics in medicine (01.03.2022)
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Journal Article
A Homozygous NDUFS6 Variant Associated with Neuropathy and Optic Atrophy
Gangfuß, Andrea, Rating, Philipp, Ferreira, Tomas, Hentschel, Andreas, Marina, Adela Della, Kölbel, Heike, Sickmann, Albert, Abicht, Angela, Kraft, Florian, Ruck, Tobias, Böhm, Johann, Schänzer, Anne, Schara-Schmidt, Ulrike, Neuhann, Teresa M., Horvath, Rita, Roos, Andreas
Published in Journal of neuromuscular diseases (05.03.2024)
Published in Journal of neuromuscular diseases (05.03.2024)
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Journal Article
A homozygous microdeletion within ADAMTSL4 in patients with isolated ectopia lentis: evidence of a founder mutation
Neuhann, Teresa M, Artelt, Juliane, Neuhann, Thomas F, Tinschert, Sigrid, Rump, Andreas
Published in Investigative ophthalmology & visual science (03.02.2011)
Published in Investigative ophthalmology & visual science (03.02.2011)
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Journal Article
Homozygous loss of CHRNA7 on chromosome 15q13.3 causes severe encephalopathy with seizures and hypotonia
Endris, Volker, Hackmann, Karl, Neuhann, Teresa M., Grasshoff, Ute, Bonin, Michael, Haug, Ulrich, Hahn, Gabriele, Schallner, Jens C., Schröck, Evelin, Tinschert, Sigrid, Rappold, Gudrun, Moog, Ute
Published in American journal of medical genetics. Part A (01.11.2010)
Published in American journal of medical genetics. Part A (01.11.2010)
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Journal Article
Lessons from two series by physicians and caregivers' self‐reported data in DDX3X‐related disorders
Ruault, Valentin, Burger, Pauline, Gradels‐Hauguel, Johanna, Ruiz, Nathalie, Jamra, Rami Abou, Afenjar, Alexandra, Alembik, Yves, Alessandri, Jean‐Luc, Arpin, Stéphanie, Barcia, Giulia, Bendová, Šárka, Bruel, Ange‐Line, Charles, Perrine, Chatron, Nicolas, Chopra, Maya, Conrad, Solène, Daire, Valérie Cormier, Cospain, Auriane, Coubes, Christine, Coursimault, Juliette, Delahaye‐Duriez, Andrée, Doco, Martine, Dufour, William, Durand, Benjamin, Engel, Camille, Faivre, Laurence, Ferroul, Fanny, Fradin, Mélanie, Frenkiel, Hélène, Fusco, Carlo, Garavelli, Livia, Garde, Aurore, Gerard, Bénédicte, Germanaud, David, Goujon, Louise, Gouronc, Aurélie, Ginglinger, Emmanuelle, Goldenberg, Alice, Hancarova, Miroslava, Havlovicová, Markéta, Heron, Delphine, Isidor, Bertrand, Marçais, Nolwenn Jean, Keren, Boris, Koch‐Hogrebe, Margarete, Kuentz, Paul, Lamure, Victoria, Lebre, Anne‐Sophie, Lecoquierre, François, Lehman, Natacha, Lesca, Gaetan, Lyonnet, Stanislas, Martin, Delphine, Mignot, Cyril, Neuhann, Teresa M., Nicolas, Gaël, Nizon, Mathilde, Petit, Florence, Philippe, Christophe, Piton, Amélie, Pollazzon, Marzia, Prchalová, Darina, Putoux, Audrey, Rio, Marlène, Rondeau, Sophie, Rossi, Massimiliano, Sabbagh, Quentin, Saugier‐Veber, Pascale, Schmetz, Ariane, Steffann, Julie, Thauvin‐Robinet, Christel, Toutain, Annick, Them, Frederic Tran Mau, Trimarchi, Gabriele, Vincent, Marie, Vlčková, Markéta, Wieczorek, Dagmar, Willems, Marjolaine, Yauy, Kevin, Zelinová, Michaela, Ziegler, Alban, Chaumette, Boris, Sadikovic, Bekim, Mandel, Jean‐Louis, Geneviève, David
Published in Molecular genetics & genomic medicine (01.01.2024)
Published in Molecular genetics & genomic medicine (01.01.2024)
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