Human genetic diagnostics in hereditary eye diseases : What does the ophthalmologist need to know von Neuhann, Teresa M, Neuhann, Lukas

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Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia von 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

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Phenotypic and Genetic Spectrum in 309 Consecutive Pediatric Patients with Inherited Retinal Disease von Priglinger, Claudia S, Gerhardt, Maximilian J, Priglinger, Siegfried G, Schaumberger, Markus, Neuhann, Teresa M, Bolz, Hanno J, Mehraein, Yasmin, Rudolph, Guenther

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Long-term chemoprevention in patients with adenomatous polyposis coli: an observational study von Neuhann, Teresa M., Haub, Katharina, Steinke-Lange, Verena, Morak, Monika, Laner, Andreas, Locher, Melanie, Holinski-Feder, Elke

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Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development von Cappello, Silvia, Gray, Mary J, Badouel, Caroline, Lange, Simona, Einsiedler, Melanie, Srour, Myriam, Chitayat, David, Hamdan, Fadi F, Jenkins, Zandra A, Morgan, Tim, Preitner, Nadia, Uster, Tami, Thomas, Jackie, Shannon, Patrick, Morrison, Victoria, Di Donato, Nataliya, Van Maldergem, Lionel, Neuhann, Teresa, Newbury-Ecob, Ruth, Swinkells, Marielle, Terhal, Paulien, Wilson, Louise C, Zwijnenburg, Petra J G, Sutherland-Smith, Andrew J, Black, Michael A, Markie, David, Michaud, Jacques L, Simpson, Michael A, Mansour, Sahar, McNeill, Helen, Götz, Magdalena, Robertson, Stephen P

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Mutation spectrum of the OPA1 gene in a large cohort of patients with suspected dominant optic atrophy: Identification and classification of 48 novel variants von Weisschuh, Nicole, Schimpf-Linzenbold, Simone, Mazzola, Pascale, Kieninger, Sinja, Xiao, Ting, Kellner, Ulrich, Neuhann, Teresa, Kelbsch, Carina, Tonagel, Felix, Wilhelm, Helmut, Kohl, Susanne, Wissinger, Bernd

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Highly sensitive liquid biopsy Duplex sequencing complements tissue biopsy to enhance detection of clinically relevant genetic variants von Hallermayr, Ariane, Neuhann, Teresa M, Steinke-Lange, Verena, Scharf, Florentine, Laner, Andreas, Ewald, Roland, Liesfeld, Ben, Holinski-Feder, Elke, Pickl, Julia M A

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Prospective evaluation of NGS-based sequencing in epilepsy patients: results of seven NASGE-associated diagnostic laboratories von 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

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Recurrent de novo BICD2 mutation associated with arthrogryposis multiplex congenita and bilateral perisylvian polymicrogyria von 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

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LZTR1 loss-of-function variants associated with café au lait macules with or without freckling von Horn, Svea, Neuhann, Teresa, Hennig, Corina, Abad-Perez, Angela, Prott, Eva-Christina, Cardellini, Lisa, Potratz, Cornelia, Leubner, Jonas, Eichhorn, Birgit, Merkel, Martin, Abicht, Angela, Kaindl, Angela M

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Impact of cfDNA Reference Materials on Clinical Performance of Liquid Biopsy NGS Assays von 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

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ADAMTSL4-associated isolated ectopia lentis: Further patients, novel mutations and a detailed phenotype description von Neuhann, Teresa M., Stegerer, Annette, Riess, Angelika, Blair, Edward, Martin, Thomas, Wieser, Stefanie, Kläs, Rüdiger, Bouman, Arjan, Kuechler, Alma, Rittinger, Olaf

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A homozygous microdeletion within ADAMTSL4 in patients with isolated ectopia lentis: evidence of a founder mutation von Neuhann, Teresa M, Artelt, Juliane, Neuhann, Thomas F, Tinschert, Sigrid, Rump, Andreas

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Germline truncating-mutations in BRCA1 and MSH6 in a patient with early onset endometrial cancer von Kast, Karin, Neuhann, Teresa M, Görgens, Heike, Becker, Kerstin, Keller, Katja, Klink, Barbara, Aust, Daniela, Distler, Wolfgang, Schröck, Evelin, Schackert, Hans K

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Author Correction: Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia von 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

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A Novel Germline KIT Mutation (p.L576P) in a Family Presenting With Juvenile Onset of Multiple Gastrointestinal Stromal Tumors, Skin Hyperpigmentations, and Esophageal Stenosis von Neuhann, Teresa M, Mansmann, Veit, Merkelbach-Bruse, Sabine, Klink, Barbara, Hellinger, Achim, Höffkes, Heinz-Gert, Wardelmann, Eva, Schildhaus, Hans-Ulrich, Tinschert, Sigrid

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Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency von 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.

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A de novo 1q23.3-q24.2 deletion combined with a GORAB missense mutation causes a distinctive phenotype with cutis laxa von Al-Bughaili, Mohammed, Neuhann, Teresa M, Flöttmann, Ricarda, Mundlos, Stefan, Spielmann, Malte, Kornak, Uwe, Fischer-Zirnsak, Björn

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A Homozygous NDUFS6 Variant Associated with Neuropathy and Optic Atrophy von 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

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Case Report: DPM1-CDG: Novel Variant with Severe Phenotype and Literature Review von Lausmann, Hanna, Zacharias, Martin, Neuhann, Teresa M., Locher, Melanie K., Schettler, Karl F.

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