OpenURL Connection Search

Select item for more details and to access through your institution.

Whole-Exome Sequencing in Critically Ill Neonates and Infants: Diagnostic Yield and Predictability of Monogenic Diagnosis.
Published in:
Neonatology (16617800), 2021, v. 118, n. 4, p. 454, doi. 10.1159/000516890
By:
- Scholz, Tasja;
- Blohm, Martin Ernst;
- Kortüm, Fanny;
- Bierhals, Tatjana;
- Lessel, Davor;
- van der Ven, Amelie T.;
- Lisfeld, Jasmin;
- Herget, Theresia;
- Kloth, Katja;
- Singer, Dominique;
- Perez, Anna;
- Obi, Nadia;
- Johannsen, Jessika;
- Denecke, Jonas;
- Santer, René;
- Kubisch, Christian;
- Deindl, Philipp;
- Hempel, Maja
Publication type:
Article
Phenotypic and molecular insights into CASK-related disorders in males.
Published in:
Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0256-3
By:
- Moog, Ute;
- Bierhals, Tatjana;
- Brand, Kristina;
- Bautsch, Jan;
- Biskup, Saskia;
- Brune, Thomas;
- Denecke, Jonas;
- de Die-Smulders, Christine E.;
- Evers, Christina;
- Hempel, Maja;
- Henneke, Marco;
- Yntema, Helger;
- Menten, Björn;
- Pietz, Joachim;
- Pfundt, Rolph;
- Schmidtke, Jörg;
- Steinemann, Doris;
- Stumpel, Constance T.;
- Van Maldergem, Lionel;
- Kutsche, Kerstin
Publication type:
Article
Phenotypic and molecular insights into CASK-related disorders in males.
Published in:
Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 44, doi. 10.1186/s13023-015-0256-3
By:
- Moog, Ute;
- Bierhals, Tatjana;
- Brand, Kristina;
- Bautsch, Jan;
- Biskup, Saskia;
- Brune, Thomas;
- Denecke, Jonas;
- de Die-Smulders, Christine E;
- Evers, Christina;
- Hempel, Maja;
- Henneke, Marco;
- Yntema, Helger;
- Menten, Björn;
- Pietz, Joachim;
- Pfundt, Rolph;
- Schmidtke, Jörg;
- Steinemann, Doris;
- Stumpel, Constance T;
- Van Maldergem, Lionel;
- Kutsche, Kerstin
Publication type:
Article
De novo FZR1 loss-of-function variants cause developmental and epileptic encephalopathies.
Published in:
2022
By:
- Manivannan, Sathiya N;
- Roovers, Jolien;
- Smal, Noor;
- Myers, Candace T;
- Turkdogan, Dilsad;
- Roelens, Filip;
- Kanca, Oguz;
- Chung, Hyung-Lok;
- Scholz, Tasja;
- Hermann, Katharina;
- Bierhals, Tatjana;
- Caglayan, Hande S;
- Stamberger, Hannah;
- Consortium, MAE Working Group of EuroEPINOMICS RES;
- Mefford, Heather;
- Jonghe, Peter de;
- Yamamoto, Shinya;
- Weckhuysen, Sarah;
- Bellen, Hugo J;
- MAE Working Group of EuroEPINOMICS RES Consortium
Publication type:
journal article
A homozygous missense variant in CACNB4 encoding the auxiliary calcium channel beta4 subunit causes a severe neurodevelopmental disorder and impairs channel and non-channel functions.
Published in:
PLoS Genetics, 2020, v. 16, n. 3, p. 1, doi. 10.1371/journal.pgen.1008625
By:
- Coste de Bagneaux, Pierre;
- von Elsner, Leonie;
- Bierhals, Tatjana;
- Campiglio, Marta;
- Johannsen, Jessika;
- Obermair, Gerald J.;
- Hempel, Maja;
- Flucher, Bernhard E.;
- Kutsche, Kerstin
Publication type:
Article
Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders.
Published in:
Genome Medicine, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s13073-021-00900-3
By:
- Mannucci, Ilaria;
- Dang, Nghi D. P.;
- Huber, Hannes;
- Murry, Jaclyn B.;
- Abramson, Jeff;
- Althoff, Thorsten;
- Banka, Siddharth;
- Baynam, Gareth;
- Bearden, David;
- Beleza-Meireles, Ana;
- Benke, Paul J.;
- Berland, Siren;
- Bierhals, Tatjana;
- Bilan, Frederic;
- Bindoff, Laurence A.;
- Braathen, Geir Julius;
- Busk, Øyvind L.;
- Chenbhanich, Jirat;
- Denecke, Jonas;
- Escobar, Luis F.
Publication type:
Article
Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders.
Published in:
Genome Medicine, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s13073-021-00900-3
By:
- Mannucci, Ilaria;
- Dang, Nghi D. P.;
- Huber, Hannes;
- Murry, Jaclyn B.;
- Abramson, Jeff;
- Althoff, Thorsten;
- Banka, Siddharth;
- Baynam, Gareth;
- Bearden, David;
- Beleza-Meireles, Ana;
- Benke, Paul J.;
- Berland, Siren;
- Bierhals, Tatjana;
- Bilan, Frederic;
- Bindoff, Laurence A.;
- Braathen, Geir Julius;
- Busk, Øyvind L.;
- Chenbhanich, Jirat;
- Denecke, Jonas;
- Escobar, Luis F.
Publication type:
Article
A novel TTC26 variant in a patient with hexadactyly, pituitary stalk interruption, hepatopathy, nephropathy, and bilateral lip‐palate cleft: A case report and expansion of the phenotype.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 5, p. 1, doi. 10.1002/ajmg.a.63515
By:
- Papingi, Dzhoy;
- Bierhals, Tatjana;
- Volk, Alexander E.;
- Kutsche, Michael;
- Paul, Kevin;
- Herget, Theresia
Publication type:
Article
Nine newly identified individuals refine the phenotype associated with MYT1L mutations.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 5, p. 1021, doi. 10.1002/ajmg.a.61515
By:
- Windheuser, Isabelle C.;
- Becker, Jessica;
- Cremer, Kirsten;
- Hundertmark, Hela;
- Yates, Laura M.;
- Mangold, Elisabeth;
- Peters, Sophia;
- Degenhardt, Franziska;
- Ludwig, Kerstin U.;
- Zink, Alexander M.;
- Lessel, Davor;
- Bierhals, Tatjana;
- Herget, Theresia;
- Johannsen, Jessika;
- Denecke, Jonas;
- Wohlleber, Eva;
- Strom, Tim M.;
- Wieczorek, Dagmar;
- Bertoli, Marta;
- Colombo, Roberto
Publication type:
Article
Expanding the phenotype associated with 17q12 duplication: Case report and review of the literature.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 2, p. 352, doi. 10.1002/ajmg.a.35730
By:
- Bierhals, Tatjana;
- Maddukuri, Satish Babu;
- Kutsche, Kerstin;
- Girisha, Katta Mohan
Publication type:
Article
Analysis of the WISP3 gene in Indian families with progressive pseudorheumatoid dysplasia.
Published in:
American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 11, p. 2820, doi. 10.1002/ajmg.a.35620
By:
- Dalal, Ashwin;
- Bhavani G, Sri Lakshmi;
- Togarrati, Padma Priya;
- Bierhals, Tatjana;
- Nandineni, Madhusudan R.;
- Danda, Sumita;
- Danda, Debashish;
- Shah, Hitesh;
- Vijayan, Sandeep;
- Gowrishankar, Kalpana;
- Phadke, Shubha R;
- Bidchol, Abdul Mueed;
- Rao, Anand Prahalad;
- Nampoothiri, Sheela;
- Kutsche, Kerstin;
- Girisha, K.M.
Publication type:
Article
Biallelic variants in SMAD6 are associated with a complex cardiovascular phenotype.
Published in:
Human Genetics, 2019, v. 138, n. 6, p. 625, doi. 10.1007/s00439-019-02011-x
By:
- Kloth, Katja;
- Bierhals, Tatjana;
- Johannsen, Jessika;
- Harms, Frederike L.;
- Juusola, Jane;
- Johnson, Mark C.;
- Grange, Dorothy K.;
- Kutsche, Kerstin
Publication type:
Article
de novo MEPCE nonsense variant associated with a neurodevelopmental disorder causes disintegration of 7SK snRNP and enhanced RNA polymerase II activation.
Published in:
Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-49032-0
By:
- Schneeberger, Pauline E.;
- Bierhals, Tatjana;
- Neu, Axel;
- Hempel, Maja;
- Kutsche, Kerstin
Publication type:
Article
The natural history of Canavan disease: 23 new cases and comparison with patients from literature.
Published in:
Orphanet Journal of Rare Diseases, 2021, v. 16, n. 1, p. 1, doi. 10.1186/s13023-020-01659-3
By:
- Bley, Annette;
- Denecke, Jonas;
- Kohlschütter, Alfried;
- Schön, Gerhard;
- Hischke, Sandra;
- Guder, Philipp;
- Bierhals, Tatjana;
- Lau, Heather;
- Hempel, Maja;
- Eichler, Florian S.
Publication type:
Article
Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder.
Published in:
Clinical Genetics, 2022, v. 102, n. 2, p. 98, doi. 10.1111/cge.14165
By:
- Christensen, Maria B.;
- Levy, Amanda M.;
- Mohammadi, Nazanin A.;
- Niceta, Marcello;
- Kaiyrzhanov, Rauan;
- Dentici, Maria Lisa;
- Al Alam, Chadi;
- Alesi, Viola;
- Benoit, Valérie;
- Bhatia, Kailash P.;
- Bierhals, Tatjana;
- Boßelmann, Christian M.;
- Buratti, Julien;
- Callewaert, Bert;
- Ceulemans, Berten;
- Charles, Perrine;
- De Wachter, Matthias;
- Dehghani, Mohammadreza;
- D'haenens, Erika;
- Doco‐Fenzy, Martine
Publication type:
Article
Prevalence and clinical prediction of mitochondrial disorders in a large neuropediatric cohort.
Published in:
Clinical Genetics, 2021, v. 100, n. 6, p. 766, doi. 10.1111/cge.14061
By:
- van der Ven, Amelie T.;
- Johannsen, Jessika;
- Kortüm, Fanny;
- Wagner, Matias;
- Tsiakas, Konstantinos;
- Bierhals, Tatjana;
- Lessel, Davor;
- Herget, Theresia;
- Kloth, Katja;
- Lisfeld, Jasmin;
- Scholz, Tasja;
- Obi, Nadia;
- Wortmann, Saskia;
- Prokisch, Holger;
- Kubisch, Christian;
- Denecke, Jonas;
- Santer, René;
- Hempel, Maja
Publication type:
Article
The natural history of Canavan disease: 23 new cases and comparison with patients from literature.
Published in:
2021
By:
- Bley, Annette;
- Denecke, Jonas;
- Kohlschütter, Alfried;
- Schön, Gerhard;
- Hischke, Sandra;
- Guder, Philipp;
- Bierhals, Tatjana;
- Lau, Heather;
- Hempel, Maja;
- Eichler, Florian S.
Publication type:
journal article
Dominant KPNA3 Mutations Cause Infantile‐Onset Hereditary Spastic Paraplegia.
Published in:
Annals of Neurology, 2021, v. 90, n. 5, p. 738, doi. 10.1002/ana.26228
By:
- Schob, Claudia;
- Hempel, Maja;
- Safka Brozkova, Dana;
- Jiang, Huafang;
- Kim, Soo Yeon;
- Batzir, Nurit Assia;
- Orenstein, Naama;
- Bierhals, Tatjana;
- Johannsen, Jessika;
- Uhrova Meszarosova, Anna;
- Chae, Jong‐Hee;
- Seeman, Pavel;
- Woidy, Mathias;
- Fang, Fang;
- Kubisch, Christian;
- Kindler, Stefan;
- Denecke, Jonas
Publication type:
Article
TMCO3, a Putative K<sup>+</sup>:Proton Antiporter at the Golgi Apparatus, Is Important for Longitudinal Growth in Mice and Humans.
Published in:
Journal of Bone & Mineral Research, 2023, v. 38, n. 9, p. 1334, doi. 10.1002/jbmr.4827
By:
- Holling, Tess;
- Brylka, Laura;
- Scholz, Tasja;
- Bierhals, Tatjana;
- Herget, Theresia;
- Meinecke, Peter;
- Schinke, Thorsten;
- Oheim, Ralf;
- Kutsche, Kerstin
Publication type:
Article
POLR3A variants with striatal involvement and extrapyramidal movement disorder.
Published in:
Neurogenetics, 2020, v. 21, n. 2, p. 121, doi. 10.1007/s10048-019-00602-4
By:
- Harting, Inga;
- Al-Saady, Murtadha;
- Krägeloh-Mann, Ingeborg;
- Bley, Annette;
- Hempel, Maja;
- Bierhals, Tatjana;
- Karch, Stephanie;
- Moog, Ute;
- Bernard, Geneviève;
- Huntsman, Richard;
- van Spaendonk, Rosalina M. L.;
- Vreeburg, Maaike;
- Rodríguez-Palmero, Agustí;
- Pujol, Aurora;
- van der Knaap, Marjo S.;
- Pouwels, Petra J. W.;
- Wolf, Nicole I.
Publication type:
Article

Found: 20