Elisabeth Mangold - Publications, H-index & Citations

Elisabeth Mangold

University of Bonn

55H指数

273论文数

1.0W被引数

收录论文 96

发表时间

Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia CAPN1激活因子CD99L2的功能缺失变异导致X连锁痉挛性共济失调

Nature Communications

IF15.7

2026-02-14

OAAI

Benita Menden; Rana D. Incebacak Eltemur; German Demidov; Marc Sturm; Joohyun Park; Chrisovalantou Huridou; Florian Fath; Astrid Nümann; Alexander Baumann; Illja J. Diets; Claudia Dufke; Martin Regensburger; Maria Rönnefarth; Vera Wilke; Nienke van Os; Stefan Vielhaber; Tim W. Rattay; Zacharias Kohl; Susana Peralta; Priscila Pereira Sena; Melanie Kellner; Nadine Weissert; Andreas Traschütz; Lena Zeltner; Kai Boelmans; Natalie Deininger; Leon Schütz; Caspar Gross; Ana Beatriz Hinojosa Amaya; Katrin Raupach; Holger Hengel; Florian Harmuth; Jakob Admard; Ingrid Bader; Sarah Baumann; Friedemann Bender; Andrea Bevot; Almut Bischoff; Felix Boschann; Rebecca Buchert; Daniel Buchzik; Nicolas Casadei; Claudia B. Catarino; Isabell Cordts; Kirsten Cremer; Marion Doebler-Neumann; Nadja Ehmke; Miriam Elbracht; Ruth J. Falb; Thomas Feindt; Zofia Fleszar; Lea Gerstner; Dieter Gläser; Ute Grasshoff; Sarah Grosch; Kathrin Grundmann; Alexander Gutschalk; Manja Haaga; Stefanie Hayer; Ute Hehr; Yorck Hellenbroich; Wolfram Henn; Barbara Herr; Rebecca Herzog; Veronka Horber; Jonas Deppe; Nadja Kaiser; Christiane Kehrer; Martin Kehrer; Jan Kern; Christoph Keßler; Katharina Khuller; Hannah Klinkhammer; Urania Kotzaeridou; Peter Krawitz; Martina Kreiss; Hanna Küpper; Alice Kuster; Lucia Laugwitz; Anne Lesemann; Nadine Lichey; Tobias Linden; Boris Macek; Janine Magg; Elisabeth Mangold; Eva Manka; Iris Marquardt; Karl Mehnert; David Mengel; Susanne Morlot; Barbara Oehl-Jaschkowitz; Martje G. Pauly; Melanie Philipp; Florentine Radelfahr; Maren Rautenberg; Angelika Riess; Carsten Saft; Beate Schlotter-Weigel; Axel Schmidt; Eva M. C. Schwaibold; Veronika Spahlinger; Stephanie Spranger; Katharina Marie Steiner; Claudia Stendel; Andreas Thieme; Andreas Tzschach; Ana Velic; Sarah Wiethoff; Carlo Wilke; Stephan Züchner; Simone Zittel; Ralf A. Husain; Marcus Deschauer; Felix Distelmaier; Andreas Dufke; Holm Graessner; Bernhard Hemmer; Heike Jacobi; Thomas Klockgether; Thomas Klopstock; Xenia Kobeleva; Georg-Christoph Korenke; Alma Kuechler; Gregor Kuhlenbäumer; Ingo Kurth; Huu Phuc Nguyen; Gilbert Wunderlich; Kirsten E. Zeuner; Stephan Klebe; Michaela Auer-Grumbach; Michaela Butryn; Jürgen Winkler; Dagmar Timmann; Matthis Synofzik; Bart van de Warrenburg; Rebecca Schüle; Ludger Schöls; Stephan Ossowski; Olaf Riess; Jonasz J. Weber; Tobias B. Haack

KLHL13 functional defects cause neurodevelopmental disorder in humans that can be rescued via inhibition of AURKB in cellular and animal models KLHL13功能缺陷会导致人类神经发育障碍，该障碍可通过抑制AURKB在细胞和动物模型中得到挽救。

Genetics in Medicine

IF6.2

2025-10-25

PREAI

Tehmeena Akhter; Zubair M. Ahmed; Yaping Ji; Axel Schmidt; Meron Azage; Maria Palomares; Kirsten Cremer; Hartmut Engels; Jennifer O. Murphy; Sophia Peters; Elisabeth Mangold; Gomez-Cano MLÁ; Rodney J. Taylor; Sheikh Riazuddin; Saima Riazuddin

Genetic heterogeneity and homogeneity among orofacial cleft subtypes: genome-wide association studies in the cleft collective 口腔裂亚型间的遗传异质性与同质性：唇腭裂协作组中的全基因组关联研究

HUMAN MOLECULAR GENETICS

IF3.2

2025-10-01

PREAI

Dack, Kyle; Ludwig, Kerstin U.; Stergiakouli, Evie; Sandy, Jonathan; Aryee, Sethlina; Smith, George Davey; Davies, Amy; Wren, Yvonne; Sharp, Gemma C.; Humphries, Kerry; Mangold, Elisabeth; Goudswaard, Lucy; Ho, Karen; Dudding, Tom; Lewis, Sarah J.

Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings 作者更正: 将下一代表型整合到超早期疾病患者的国家框架中，可改善遗传诊断并产生新的分子发现

Nature Genetics

IF0

2025-06-24

OAAI

Axel Schmidt; Magdalena Danyel; Kathrin Grundmann; Theresa Brunet; Hannah Klinkhammer; Tzung-Chien Hsieh; Hartmut Engels; Sophia Peters; Alexej Knaus; Shahida Moosa; Luisa Averdunk; Felix Boschann; Henrike Lisa Sczakiel; Sarina Schwartzmann; Martin Atta Mensah; Jean Tori Pantel; Manuel Holtgrewe; Annemarie Bösch; Claudia Weiß; Natalie Weinhold; Aude-Annick Suter; Corinna Stoltenburg; Julia Neugebauer; Tillmann Kallinich; Angela M. Kaindl; Susanne Holzhauer; Christoph Bührer; Philip Bufler; Uwe Kornak; Claus-Eric Ott; Markus Schülke; Hoa Huu Phuc Nguyen; Sabine Hoffjan; Corinna Grasemann; Tobias Rothoeft; Folke Brinkmann; Nora Matar; Sugirthan Sivalingam; Claudia Perne; Elisabeth Mangold; Martina Kreiss; Kirsten Cremer; Regina C. Betz; Martin Mücke; Lorenz Grigull; Thomas Klockgether; Isabel Spier; André Heimbach; Tim Bender; Fabian Brand; Christiane Stieber; Alexandra Marzena Morawiec; Pantelis Karakostas; Valentin S. Schäfer; Sarah Bernsen; Patrick Weydt; Sergio Castro-Gomez; Ahmad Aziz; Marcus Grobe-Einsler; Okka Kimmich; Xenia Kobeleva; Demet Önder; Hellen Lesmann; Sheetal Kumar; Pawel Tacik; Meghna Ahuja Bhasin; Pietro Incardona; Min Ae Lee-Kirsch; Reinhard Berner; Catharina Schuetz; Julia Körholz; Tanita Kretschmer; Nataliya Di Donato; Evelin Schröck; André Heinen; Ulrike Reuner; Amalia-Mihaela Hanßke; Frank J. Kaiser; Eva Manka; Martin Munteanu; Alma Kuechler; Kiewert Cordula; Raphael Hirtz; Elena Schlapakow; Christian Schlein; Jasmin Lisfeld; Christian Kubisch; Theresia Herget; Maja Hempel; Christina Weiler-Normann; Kurt Ullrich; Christoph Schramm; Cornelia Rudolph; Franziska Rillig; Maximilian Groffmann; Ania Muntau; Alexandra Tibelius; Eva M. C. Schwaibold; Christian P. Schaaf; Michal Zawada; Lilian Kaufmann; Katrin Hinderhofer; Pamela M. Okun; Urania Kotzaeridou; Georg F. Hoffmann; Daniela Choukair; Markus Bettendorf; Malte Spielmann; Annekatrin Ripke; Martje Pauly; Alexander Münchau; Katja Lohmann; Irina Hüning; Britta Hanker; Tobias Bäumer; Rebecca Herzog; Yorck Hellenbroich; Dominik S. Westphal; Tim Strom; Reka Kovacs; Korbinian M. Riedhammer; Katharina Mayerhanser; Elisabeth Graf; Melanie Brugger; Julia Hoefele; Konrad Oexle; Nazanin Mirza-Schreiber; Riccardo Berutti; Ulrich Schatz; Martin Krenn; Christine Makowski; Heike Weigand; Sebastian Schröder; Meino Rohlfs; Katharina Vill; Fabian Hauck; Ingo Borggraefe; Wolfgang Müller-Felber; Ingo Kurth; Miriam Elbracht; Cordula Knopp; Matthias Begemann; Florian Kraft; Johannes R. Lemke; Julia Hentschel; Konrad Platzer; Vincent Strehlow; Rami Abou Jamra; Martin Kehrer; German Demidov; Stefanie Beck-Wödl; Holm Graessner; Marc Sturm; Lena Zeltner; Ludger J. Schöls; Janine Magg; Andrea Bevot; Christiane Kehrer; Nadja Kaiser; Ernest Turro; Denise Horn; Annette Grüters-Kieslich; Christoph Klein; Stefan Mundlos; Markus Nöthen; Olaf Riess; Thomas Meitinger; Heiko Krude; Peter M. Krawitz; Tobias Haack; Nadja Ehmke; Matias Wagner

A non-syndromic orofacial cleft risk locus links tRNA splicing defects to neural crest cell pathologies 非综合征性面裂风险位点将tRNA剪接缺陷与神经嵴细胞病理学联系起来

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2025-05-01

PREAI

Bartusel, M; Kim, SX; Rehimi, R; Darnell, AM; Nikolic, M; Heggemann, J; Kolovos, P; van Ijcken, WFJ; Varineau, J; Crispatzu, G; Mangold, E; Brugmann, SA; Heiden, MGV; Laugsch, M; Ludwig, KU; Rada-Iglesias, A; Calo, E

Role of ZFHX4 in orofacial clefting based on human genetic data and zebrafish models

EUROPEAN JOURNAL OF HUMAN GENETICS

IF4.6

2024-12-19

OAAI

Ishorst, Nina; Hoelzel, Selina; Greve, Carola; Yilmaz, Oeznur; Lindenberg, Tobias; Lambertz, Jessica; Drichel, Dmitriy; Zametica, Berina; Mingardo, Enrico; Kalanithy, Jeshurun C.; Channab, Khadija; Kibris, Duygu; Henne, Sabrina; Degenhardt, Franziska; Siewert, Anna; Dixon, Michael; Kruse, Teresa; Ongkosuwito, Edwin; Girisha, Katta M.; Pande, Shruti; Nowak, Stefanie; Hagelueken, Gregor; Geyer, Matthias; Carels, Carine; van Rooij, Iris A. L. M.; Ludwig, Kerstin U.; Odermatt, Benjamin; Mangold, Elisabeth

Combining genetic and single-cell expression data reveals cell types and novel candidate genes for orofacial clefting 结合遗传和单细胞表达数据揭示了用于口面裂的细胞类型和新候选基因

SCIENTIFIC REPORTS

IF3.9

2024-11-03

OAAI

Siewert, Anna; Hoeland, Simone; Mangold, Elisabeth; Ludwig, Kerstin U.

A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3 (vol 111, pg 96, 2024)

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2024-06-01

OAAI

Paul, Maimuna S.; Michener, Sydney L.; Pan, Hongling; Chan, Hiuling; Pfliger, Jessica M.; Rosenfeld, Jill A.; Lerma, Vanesa C.; Tran, Alyssa; Longley, Megan A.; Lewis, Richard A.; Weisz-Hubshman, Monika; Bekheirnia, Mir Reza; Bekheirnia, Nasim; Massingham, Lauren; Zech, Michael; Wagner, Matias; Engels, Hartmut; Cremer, Kirsten; Mangold, Elisabeth; Peters, Sophia; Trautmann, Jessica; Perne, Claudia; Mester, Jessica L.; Sacoto, Maria J. Guillen; Person, Richard; McDonnell, Pamela P.; Cohen, Stacey R.; Lusk, Laina; Cohen, Ana S. A.; Pichon, Jean -Baptiste Le; Pastinen, Tomi; Zhou, Dihong; Engleman, Kendra; Racine, Caroline; Faivre, Laurence; Moutton, Sebastien; Denomme-Pichon, Anne -Sophie; Koh, Hyun Yong; Poduri, Annapurna; Bolton, Jeffrey; Knopp, Cordula; Suh, Dong Sun Julia; Maier, Andrea; Toosi, Mehran Beiraghi; Karimiani, Ehsan Ghayoor; Maroofian, Reza; Schaefer, Gerald Bradley; Ramakumaran, Vijayalakshmi; Vasudevan, Pradeep; Banos-Pinero, Benito; Pagnamenta, Alistair T.; Prasad, Chitra; Osmond, Matthew; Schuhmann, Sarah; Vasileiou, Georgia; Russ-Hall, Sophie; Scheffer, Ingrid E.; Carvill, Gemma L.; Mefford, Heather; Bacino, Carlos A.; Lee, Brendan H.; Chao, Hsiao-Tuan

A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3 (vol 111, pg 96, 2024)

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2024-04-01

OAAI

Paul, Maimuna S.; Michener, Sydney L.; Pan, Hongling; Chan, Hiuling; Pfliger, Jessica M.; Rosenfeld, Jill A.; Lerma, Vanesa C.; Tran, Alyssa; Longley, Megan A.; Lewis, Richard A.; Weisz-Hubshman, Monika; Bekheirnia, Mir Reza; Bekheirnia, Nasim; Massingham, Lauren; Zech, Michael; Wagner, Matias; Engels, Hartmut; Cremer, Kirsten; Mangold, Elisabeth; Peters, Sophia; Trautmann, Jessica; Perne, Claudia; Mester, Jessica L.; Sacoto, Maria J. Guillen; Person, Richard; McDonnell, Pamela P.; Cohen, Stacey R.; Lusk, Laina; Cohen, Ana S. A.; Le Pichon, Jean-Baptiste; Pastinen, Tomi; Zhou, Dihong; Engleman, Kendra; Racine, Caroline; Faivre, Laurence; Moutton, Se Bastien; Denomme-Pichon, Anne-Sophie; Koh, Hyun Yong; Poduri, Annapurna; Bolton, Jeffrey; Knopp, Cordula; Suh, Dong Sun Julia; Maier, Andrea; Toosi, Mehran Beiraghi; Karimiani, Ehsan Ghayoor; Maroofian, Reza; Schaefer, Gerald Bradley; Ramakumaran, Vijayalakshmi; Vasudevan, Pradeep; Banos-Pinero, Benito; Pagnamenta, Alistair T.; Prasad, Chitra; Osmond, Matthew; Schuhmann, Sarah; Vasileiou, Georgia; Russ-Hall, Sophie; Scheffer, Ingrid E.; Carvill, Gemma L.; Mefford, Heather; Bacino, Carlos A.; Lee, Brendan H.; Chao, Hsiao-Tuan

A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2024-01-01

OAAI

Paul, Maimuna S.; Michener, Sydney L.; Pan, Hongling; Chan, Hiuling; Pfliger, Jessica M.; Rosenfeld, Jill A.; Lerma, Vanesa C.; Tran, Alyssa; Longley, Megan A.; Lewis, Richard A.; Weisz-Hubshman, Monika; Bekheirnia, Mir Reza; Bekheirnia, Nasim; Massingham, Lauren; Zech, Michae; Wagner, Matia; Engels, Hartmut; Cremer, Kirsten; Mangold, Elisabeth; Peters, Sophia; Trautmann, Jessica; Mester, Jessica L.; Sacoto, Maria J. Guillen; Person, Richard; Mcdonnell, Pamela P.; Cohen, Stacey R.; Lusk, Laina; Cohen, Ana S. A.; Le Pichon, Jean-Baptiste; Pastinen, Tomi; Zhou, Dihong; Engleman, Kendra; Racirie, Carolin; Faivre, Laurence; Moutton, Sebastien; Denomme-Pichon, Anne-Sophie; Koh, Hyun Yong; Poduri, Annapurna; Bolton, Jeffrey; Knopp, Cordula; Suh, Dong Sun Julia; Maier, Andrea; Toosi, Mehran Beiraghi; Karimiani, Ehsan Ghayoor; Maroofian, Reza; Schaefer, Gerald Bradley; Ramakumaran, Vijayalakshmi; Vasudevan, Pradeep; Prasad, Chitra; Osmond, Matthew; Schuhmann, Sarah; Vasileiou, Georgia; Russ-Hall, Sophie; Scheffer, Ingrid E.; Carvill, Gemma L.; Mefford, Heather; Bacino, Carlos A.; Lee, Brendan H.; Chao, Hsiao-Tuan

Prioritization of non-coding elements involved in non-syndromic cleft lip with/without cleft palate through genome-wide analysis of de novo mutations

HUMAN GENETICS AND GENOMICS ADVANCES

IF3.6

2023-01-01

OAAI

Zieger, Hanna K.; Weinhold, Leonie; Schmidt, Axel; Holtgrewe, Manuel; Juranek, Stefan A.; Siewert, Anna; Scheer, Annika B.; Thieme, Frederic; Mangold, Elisabeth; Ishorst, Nina; Brand, Fabian U.; Welzenbach, Julia; Beule, Dieter; Paeschke, Katrin; Krawitz, Peter M.; Ludwig, Kerstin U.

Next-generation phenotyping contributing to the identification of a 4.7 kb deletion in KANSL1 causing Koolen-de Vries syndrome 下一代表型有助于鉴定导致koolen-de Vries综合征的KANSL1中4.7 kb缺失

HUMAN MUTATION

IF3.7

2022-10-02

OAAI

Brand, Fabian; Vijayananth, Aswinkumar; Hsieh, Tzung-Chien; Schmidt, Axel; Peters, Sophia; Mangold, Elisabeth; Cremer, Kirsten; Bender, Tim; Sivalingam, Sugirthan; Hundertmark, Hela; Knaus, Alexej; Engels, Hartmut; Krawitz, Peter M.; Perne, Claudia

Using CRISPR/Cas9 genome editing in human iPSCs for deciphering the pathogenicity of a novel CCM1 transcription start site deletion

FRONTIERS IN MOLECULAR BIOSCIENCES

IF4

2022-08-25

OAAI

Pilz, Robin A.; Skowronek, Dariush; Hamed, Motaz; Weise, Anja; Mangold, Elisabeth; Radbruch, Alexander; Pietsch, Torsten; Felbor, Ute; Rath, Matthias

First genome-wide association study of esophageal atresia identifies three genetic risk loci at CTNNA3, FOXF1/FOXC2/FOXL1, and HNF1B

HUMAN GENETICS AND GENOMICS ADVANCES

IF3.6

2022-04-01

OAAI

Gehlen, Jan; Giel, Ann-Sophie; Koellges, Ricarda; Haas, Stephan L.; Zhang, Rong; Trcka, Jiri; Sungur, Ayse O.; Renziehausen, Florian; Bornholdt, Dorothea; Jung, Daphne; Hoyer, Paul D.; Nordenskjold, Agneta; Tibboel, Dick; Vlot, John; Spaander, Manon C. W.; Smigiel, Robert; Patkowski, Dariusz; Roeleveld, Nel; van Rooij, Iris Alm; de Blaauw, Ivo; Hoelscher, Alice; Pauly, Marcus; Leutner, Andreas; Fuchs, Joerg; Niethammer, Joel; Melissari, Maria-Theodora; Jenetzky, Ekkehart; Zwink, Nadine; Thiele, Holger; Hilger, Alina Christine; Hess, Timo; Trautmann, Jessica; Marks, Matthias; Baumgarten, Martin; Blaess, Gaby; Landen, Mikael; Fundin, Bengt; Bulik, Cynthia M.; Pennimpede, Tracie; Ludwig, Michael; Ludwig, Kerstin U.; Mangold, Elisabeth; Heilmann-Heimbach, Stefanie; Moebus, Susanne; Herrmann, Bernhard G.; Alsabeah, Kristina; Burgos, Carmen M.; Lilja, Helene E.; Azodi, Sahar; Stenstrom, Pernilla; Arnbjornsson, Einar; Frybova, Barbora; Lebensztejn, Dariusz M.; Debek, Wojciech; Kolodziejczyk, Elwira; Kozera, Katarzyna; Kierkus, Jaroslaw; Kalicinski, Piotr; Stefanowicz, Marek; Socha-Banasiak, Anna; Kolejwa, Michal; Piaseczna-Piotrowska, Anna; Czkwianianc, Elzbieta; Noethen, Markus M.; Grote, Phillip; Rygl, Michal; Reinshagen, Konrad; Spychalski, Nicole; Ludwikowski, Barbara; Hubertus, Jochen; Heydweiller, Andreas; Ure, Benno; Muensterer, Oliver J.; Aubert, Ophelia; Gosemann, Jan-Hendrik; Lacher, Martin; Degenhardt, Petra; Boemers, Thomas M.; Mokrowiecka, Anna; Malecka-Panas, Ewa; Woehr, Markus; Knapp, Michael; Seitz, Guido; de Klein, Annelies; Oracz, Grzegorz; Brosens, Erwin; Reutter, Heiko; Schumacher, Johannes

Allele-specific transcription factor binding in a cellular model of orofacial clefting

SCIENTIFIC REPORTS

IF3.9

2022-02-02

OAAI

Ruff, Katharina L. M.; Hollstein, Ronja; Fazaal, Julia; Thieme, Frederic; Gehlen, Jan; Mangold, Elisabeth; Knapp, Michael; Welzenbach, Julia; Ludwig, Kerstin U.

MiRNA-149 as a Candidate for Facial Clefting and Neural Crest Cell Migration

JOURNAL OF DENTAL RESEARCH

IF5.9

2021-09-16

OAAI

Stuessel, L. G.; Hollstein, R.; Laugsch, M.; Hochfeld, L. M.; Welzenbach, J.; Schroeder, J.; Thieme, F.; Ishorst, N.; Romero, R. Olmos; Weinhold, L.; Hess, T.; Gehlen, J.; Mostowska, A.; Heilmann-Heimbach, S.; Mangold, E.; Rada-Iglesias, A.; Knapp, M.; Schaaf, C. P.; Ludwig, K. U.

Integrative approaches generate insights into the architecture of non-syndromic cleft lip with or without cleft palate 综合方法可洞悉有无腭裂的非综合征性唇裂的结构

HUMAN GENETICS AND GENOMICS ADVANCES

IF3.6

2021-07-01

OAAI

Welzenbach, Julia; Hammond, Nigel L.; Nikolic, Milos; Thieme, Frederic; Ishorst, Nina; Leslie, Elizabeth J.; Weinberg, Seth M.; Beaty, Terri H.; Marazita, Mary L.; Mangold, Elisabeth; Knapp, Michael; Cotney, Justin; Rada-Iglesias, Alvaro; Dixon, Michael J.; Ludwig, Kerstin U.

Extending the allelic spectrum at noncoding risk loci of orofacial clefting

HUMAN MUTATION

IF3.7

2021-06-03

OAAI

Thieme, Frederic; Henschel, Leonie; Hammond, Nigel L.; Ishorst, Nina; Hausen, Jonas; Adamson, Antony D.; Biedermann, Angelika; Bowes, John; Zieger, Hanna K.; Maj, Carlo; Kruse, Teresa; Buness, Andreas; Hoischen, Alexander; Gilissen, Christian; Kreusch, Thomas; Jaeger, Andreas; Goelz, Lina; Braumann, Bert; Aldhorae, Khalid; Rojas-Martinez, Augusto; Krawitz, Peter M.; Mangold, Elisabeth; Dixon, Michael J.; Ludwig, Kerstin U.

Msx1 deficiency interacts with hypoxia and induces a morphogenetic regulation during mouse lip development

DEVELOPMENT

IF3.6

2020-01-01

OAAI

Nakatomi, Mitsushiro; Ludwig, Kerstin U.; Knapp, Michael; Kist, Ralf; Lisgo, Steven; Ohshima, Hayato; Mangold, Elisabeth; Peters, Heiko

PEDIA: prioritization of exome data by image analysis PEDIA: 通过图像分析对外显子组数据进行优先排序

GENETICS IN MEDICINE

IF6.2

2019-12-01

OAAI

Hsieh, Tzung-Chien; Mensah, Martin A.; Pantel, Jean T.; Aguilar, Dione; Bar, Omri; Bayat, Allan; Becerra-Solano, Luis; Bentzen, Heidi B.; Biskup, Saskia; Borisov, Oleg; Braaten, Oivind; Ciaccio, Claudia; Coutelier, Marie; Cremer, Kirsten; Danyel, Magdalena; Daschkey, Svenja; Eden, Hilda David; Devriendt, Koenraad; Wilson, Sandra; Douzgou, Sofia; Dukic, Dejan; Ehmke, Nadja; Fauth, Christine; Fischer-Zirnsak, Bjoern; Fleischer, Nicole; Gabriel, Heinz; Graul-Neumann, Luitgard; Gripp, Karen W.; Gurovich, Yaron; Gusina, Asya; Haddad, Nechama; Hajjir, Nurulhuda; Hanani, Yair; Hertzberg, Jakob; Hoertnagel, Konstanze; Howell, Janelle; Ivanovski, Ivan; Kaindl, Angela; Kamphans, Tom; Kamphausen, Susanne; Karimov, Catherine; Kathom, Hadil; Keryan, Anna; Knaus, Alexej; Koehler, Sebastian; Kornak, Uwe; Lavrov, Alexander; Leitheiser, Maximilian; Lyon, Gholson J.; Mangold, Elisabeth; Marin Reina, Purificacion; Martinez Carrascal, Antonio; Mitter, Diana; Morlan Herrador, Laura; Nadav, Guy; Noethen, Markus; Orrico, Alfredo; Ott, Claus-Eric; Park, Kristen; Peterlin, Borut; Poeisler, Laura; Raas-Rothschild, Annick; Randolph, Linda; Revencu, Nicole; Fagerberg, Christina Ringmann; Robinson, Peter Nick; Rosnev, Stanislav; Rudnik, Sabine; Rudolf, Gorazd; Schatz, Ulrich; Schossig, Anna; Schubach, Max; Shanoon, Or; Sheridan, Eamonn; Smirin-Yosef, Pola; Spielmann, Malte; Suk, Eun-Kyung; Sznajer, Yves; Thiel, Christian T.; Thiel, Gundula; Verloes, Alain; Vrecar, Irena; Wahl, Dagmar; Weber, Ingrid; Winter, Korina; Wisniewska, Marzena; Wollnik, Bernd; Yeung, Ming W.; Zhao, Max; Zhu, Na; Zschocke, Johannes; Mundlos, Stefan; Horn, Denise; Krawitz, Peter M.

研究方向