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Loss-of-function variants in MYCBP2 cause neurobehavioural phenotypes and corpus callosum defects.
Published in:
Brain: A Journal of Neurology, 2023, v. 146, n. 4, p. 1373, doi. 10.1093/brain/awac364
By:
- AlAbdi, Lama;
- Desbois, Muriel;
- Rusnac, Domniţa-Valeria;
- Sulaiman, Raashda A;
- Rosenfeld, Jill A;
- Lalani, Seema;
- Murdock, David R;
- Burrage, Lindsay C;
- Network, Undiagnosed Diseases;
- Au, Ping Yee Billie;
- Towner, Shelley;
- Wilson, William G;
- Wong, Lawrence;
- Brunet, Theresa;
- Strobl-Wildemann, Gertrud;
- Burton, Jennifer E;
- Hoganson, George;
- McWalter, Kirsty;
- Begtrup, Amber;
- Zarate, Yuri A
Publication type:
Article
Blood DNA methylation provides an accurate biomarker of KMT2B-related dystonia and predicts onset.
Published in:
2022
By:
- Mirza-Schreiber, Nazanin;
- Zech, Michael;
- Wilson, Rory;
- Brunet, Theresa;
- Wagner, Matias;
- Jech, Robert;
- Boesch, Sylvia;
- Škorvánek, Matej;
- Necpál, Ján;
- Weise, David;
- Weber, Sandrina;
- Mollenhauer, Brit;
- Trenkwalder, Claudia;
- Maier, Esther M;
- Borggraefe, Ingo;
- Vill, Katharina;
- Hackenberg, Annette;
- Pilshofer, Veronika;
- Kotzaeridou, Urania;
- Schwaibold, Eva Maria Christina
Publication type:
journal article
CADA: phenotype-driven gene prioritization based on a case-enriched knowledge graph.
Published in:
NAR Genomics & Bioinformatics, 2021, v. 3, n. 3, p. 1, doi. 10.1093/nargab/lqab078
By:
- Chengyao Peng;
- Dieck, Simon;
- Schmid, Alexander;
- Ahmad, Ashar;
- Knaus, Alexej;
- Wenzel, Maren;
- Mehnert, Laura;
- Zirn, Birgit;
- Haack, Tobias;
- Ossowski, Stephan;
- Wagner, Matias;
- Brunet, Theresa;
- Ehmke, Nadja;
- Danyel, Magdalena;
- Rosnev, Stanislav;
- Kamphans, Tom;
- Nadav, Guy;
- Fleischer, Nicole;
- Fröhlich, Holger;
- Krawitz, Peter
Publication type:
Article
Clinical heterogeneity within the ALS‐FTD spectrum in a family with a homozygous optineurin mutation.
Published in:
Annals of Clinical & Translational Neurology, 2024, v. 11, n. 6, p. 1579, doi. 10.1002/acn3.52075
By:
- Parvizi, Tandis;
- Klotz, Sigrid;
- Keritam, Omar;
- Caliskan, Haluk;
- Imhof, Sophie;
- König, Theresa;
- Haider, Lukas;
- Traub‐Weidinger, Tatjana;
- Wagner, Matias;
- Brunet, Theresa;
- Brugger, Melanie;
- Zimprich, Alexander;
- Rath, Jakob;
- Stögmann, Elisabeth;
- Gelpi, Ellen;
- Cetin, Hakan
Publication type:
Article
A homozygous truncating variant in CCDC186 in an individual with epileptic encephalopathy.
Published in:
Annals of Clinical & Translational Neurology, 2021, v. 8, n. 1, p. 278, doi. 10.1002/acn3.51260
By:
- Brugger, Melanie;
- Becker‐Dettling, Fiona;
- Brunet, Theresa;
- Strom, Tim;
- Meitinger, Thomas;
- Lurz, Eberhard;
- Borggraefe, Ingo;
- Wagner, Matias
Publication type:
Article
Biallelic loss‐of‐function variants in RBL2 in siblings with a neurodevelopmental disorder.
Published in:
Annals of Clinical & Translational Neurology, 2020, v. 7, n. 3, p. 390, doi. 10.1002/acn3.50992
By:
- Brunet, Theresa;
- Radivojkov‐Blagojevic, Milena;
- Lichtner, Peter;
- Kraus, Verena;
- Meitinger, Thomas;
- Wagner, Matias
Publication type:
Article
The constitutional gain‐of‐function variant p.Glu1099Lys in NSD2 is associated with a novel syndrome.
Published in:
Clinical Genetics, 2023, v. 103, n. 2, p. 226, doi. 10.1111/cge.14241
By:
- Popp, Bernt;
- Brugger, Melanie;
- Poschmann, Sibylle;
- Bartolomaeus, Tobias;
- Radtke, Maximilian;
- Hentschel, Julia;
- Di Donato, Nataliya;
- Rump, Andreas;
- Gburek‐Augustat, Janina;
- Graf, Elisabeth;
- Wagner, Matias;
- Sorge, Ina;
- Lemke, Johannes R;
- Meitinger, Thomas;
- Abou Jamra, Rami;
- Strehlow, Vincent;
- Brunet, Theresa
Publication type:
Article
De novo variants in neurodevelopmental disorders—experiences from a tertiary care center.
Published in:
Clinical Genetics, 2021, v. 100, n. 1, p. 14, doi. 10.1111/cge.13946
By:
- Brunet, Theresa;
- Jech, Robert;
- Brugger, Melanie;
- Kovacs, Reka;
- Alhaddad, Bader;
- Leszinski, Gloria;
- Riedhammer, Korbinian M.;
- Westphal, Dominik S.;
- Mahle, Isabella;
- Mayerhanser, Katharina;
- Skorvanek, Matej;
- Weber, Sandrina;
- Graf, Elisabeth;
- Berutti, Riccardo;
- Necpál, Ján;
- Havránková, Petra;
- Pavelekova, Petra;
- Hempel, Maja;
- Kotzaeridou, Urania;
- Hoffmann, Georg F.
Publication type:
Article
Subcutaneous vitamin B12 administration using a portable infusion pump in cobalamin-related remethylation disorders: a gentle and easy to use alternative to intramuscular injections.
Published in:
2021
By:
- Lotz-Havla, Amelie S.;
- Weiß, Katharina J.;
- Schiergens, Katharina A.;
- Brunet, Theresa;
- Kohlhase, Jürgen;
- Regenauer-Vandewiele, Stephanie;
- Maier, Esther M.
Publication type:
journal article
Variants in Mitochondrial ATP Synthase Cause Variable Neurologic Phenotypes.
Published in:
Annals of Neurology, 2022, v. 91, n. 2, p. 225, doi. 10.1002/ana.26293
By:
- Zech, Michael;
- Kopajtich, Robert;
- Steinbrücker, Katja;
- Bris, Céline;
- Gueguen, Naig;
- Feichtinger, René G.;
- Achleitner, Melanie T.;
- Duzkale, Neslihan;
- Périvier, Maximilien;
- Koch, Johannes;
- Engelhardt, Harald;
- Freisinger, Peter;
- Wagner, Matias;
- Brunet, Theresa;
- Berutti, Riccardo;
- Smirnov, Dmitrii;
- Navaratnarajah, Tharsini;
- Rodenburg, Richard J.T.;
- Pais, Lynn S;
- Austin‐Tse, Christina
Publication type:
Article
Next-generation sequencing and comprehensive data reassessment in 263 adult patients with neuromuscular disorders: insights into the gray zone of molecular diagnoses.
Published in:
Journal of Neurology, 2024, v. 271, n. 4, p. 1937, doi. 10.1007/s00415-023-12101-6
By:
- Krenn, Martin;
- Wagner, Matias;
- Zulehner, Gudrun;
- Weng, Rosa;
- Jäger, Fiona;
- Keritam, Omar;
- Sener, Merve;
- Brücke, Christof;
- Milenkovic, Ivan;
- Langer, Agnes;
- Buchinger, Dominic;
- Habersam, Richard;
- Mayerhanser, Katharina;
- Brugger, Melanie;
- Brunet, Theresa;
- Jacob, Maureen;
- Graf, Elisabeth;
- Berutti, Riccardo;
- Cetin, Hakan;
- Hoefele, Julia
Publication type:
Article
Case Report: Stüve-Wiedemann syndrome-a rare cause of persistent pulmonary hypertension of the newborn.
Published in:
Frontiers in Pediatrics, 2024, p. 1, doi. 10.3389/fped.2023.1329404
By:
- Jin, Jessica;
- Rothämel, Paula;
- Büchel, Johanna;
- Kammer, Birgit;
- Brunet, Theresa;
- Pattathu, Joseph;
- Flemmer, Andreas W.;
- Nussbaum, Claudia;
- Schroepf, Sebastian
Publication type:
Article
Clonal hematopoiesis as a pitfall in germline variant interpretation in the context of Mendelian disorders.
Published in:
Human Molecular Genetics, 2022, v. 31, n. 14, p. 2386, doi. 10.1093/hmg/ddac034
By:
- Brunet, Theresa;
- Berutti, Riccardo;
- Dill, Veronika;
- Hecker, Judith S;
- Choukair, Daniela;
- Andres, Stephanie;
- Deschauer, Marcus;
- Diehl-Schmid, Janine;
- Krenn, Martin;
- Eckstein, Gertrud;
- Graf, Elisabeth;
- Gasser, Thomas;
- Strom, Tim M;
- Hoefele, Julia;
- Götze, Katharina S;
- Meitinger, Thomas;
- Wagner, Matias
Publication type:
Article
Exome sequencing (ES) of a pediatric cohort with chronic endocrine diseases: a single-center study (within the framework of the TRANSLATE-NAMSE project).
Published in:
Endocrine (1355008X), 2024, v. 85, n. 1, p. 444, doi. 10.1007/s12020-023-03581-7
By:
- Gippert, Sebastian;
- Wagner, Matias;
- Brunet, Theresa;
- Berruti, Riccardo;
- Brugger, Melanie;
- Schwaibold, Eva M. C.;
- Haack, Tobias B.;
- Hoffmann, Georg F.;
- Bettendorf, Markus;
- Choukair, Daniela
Publication type:
Article
Mosaic trisomy 12 diagnosed in a female patient: clinical features, genetic analysis, and review of the literature.
Published in:
2021
By:
- Hainz, Daniela;
- Krüger, Marcus;
- Reber, Daniela;
- Mehnert, Karl;
- Brunet, Theresa;
- Lederer, Gabriele;
- Langer-Freitag, Sabine;
- Hoefele, Julia
Publication type:
Letter
Variants in LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviors.
Published in:
Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-52095-x
By:
- Willim, Jana;
- Woike, Daniel;
- Greene, Daniel;
- Das, Sarada;
- Pfeifer, Kevin;
- Yuan, Weimin;
- Lindsey, Anika;
- Itani, Omar;
- Böhme, Amber L.;
- Tibbe, Debora;
- Hönck, Hans-Hinrich;
- Hassani Nia, Fatemeh;
- Zech, Michael;
- Brunet, Theresa;
- Faivre, Laurence;
- Sorlin, Arthur;
- Vitobello, Antonio;
- Smol, Thomas;
- Colson, Cindy;
- Baranano, Kristin
Publication type:
Article
Variants in LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviors.
Published in:
Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-52095-x
By:
- Willim, Jana;
- Woike, Daniel;
- Greene, Daniel;
- Das, Sarada;
- Pfeifer, Kevin;
- Yuan, Weimin;
- Lindsey, Anika;
- Itani, Omar;
- Böhme, Amber L.;
- Tibbe, Debora;
- Hönck, Hans-Hinrich;
- Hassani Nia, Fatemeh;
- Zech, Michael;
- Brunet, Theresa;
- Faivre, Laurence;
- Sorlin, Arthur;
- Vitobello, Antonio;
- Smol, Thomas;
- Colson, Cindy;
- Baranano, Kristin
Publication type:
Article
Semaphorin heterodimerization in cis regulates membrane targeting and neocortical wiring.
Published in:
Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-51009-1
By:
- Bessa, Paraskevi;
- Newman, Andrew G.;
- Yan, Kuo;
- Schaub, Theres;
- Dannenberg, Rike;
- Lajkó, Denis;
- Eilenberger, Julia;
- Brunet, Theresa;
- Textoris-Taube, Kathrin;
- Kemmler, Emanuel;
- Deng, Penghui;
- Banerjee, Priyanka;
- Ravindran, Ethiraj;
- Preissner, Robert;
- Rosário, Marta;
- Tarabykin, Victor
Publication type:
Article

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