Stefanie Beck‐Wödl - Publications, H-index & Citations

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Stefanie Beck‐Wödl

Institute for Medical Genetics and Applied Genomics

18H-index

48Paper Count

1.0KCitation Count

Published Papers 22

Publication Date

Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings

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

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Clinical, Imaging, Genetic, and Disease Course Characteristics in Patients With GM2 Gangliosidosis

NEUROLOGY

IF8.5

2024-01-09

PREAI

Kern, Jan; Boehringer, Judith; Timmann, Dagmar; Trollmann, Regina; Stendel, Claudia; Kamm, Cristoph; Roebl, Markus; Santhanakumaran, Vidiyaah; Groeschel, Samuel; Beck-Woedl, Stefanie; Goericke, Sophia; Kraegeloh-Mann, Ingeborg; Synofzik, Matthis

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Biallelic NUDT2 variants defective in mRNA decapping cause a neurodevelopmental disease

BRAIN

IF11.7

2023-12-23

PREAI

Husain, Ralf A.; Jiao, Xinfu; Hennings, J. Christopher; Giesecke, Jan; Palsule, Geeta; Beck-Woedl, Stefanie; Osmanovic, Dina; Bjorgo, Kathrine; Mir, Asif; Ilyas, Muhammad; Abbasi, Saad M.; Efthymiou, Stephanie; Dominik, Natalia; Maroofian, Reza; Houlden, Henry; Rankin, Julia; Pagnamenta, Alistair T.; Nashabat, Marwan; Altwaijri, Waleed; Alfadhel, Majid; Umair, Muhammad; Khouj, Ebtissal; Reardon, William; El-Hattab, Ayman W.; Mekki, Mohammed; Houge, Gunnar; Beetz, Christian; Bauer, Peter; Putoux, Audrey; Lesca, Gaetan; Sanlaville, Damien; Alkuraya, Fowzan S.; Taylor, Robert W.; Mentzel, Hans-Joachim; Huebner, Christian A.; Huppke, Peter; Hart, Ronald P.; Haack, Tobias B.; Kiledjian, Megerditch; Rubio, Ignacio

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Bi-allelic variants of FILIP1 cause congenital myopathy, dysmorphism and neurological defects

BRAIN

IF11.7

2023-05-10

PREAI

Roos, Andreas; van der Ven, Peter F. M.; Alrohaif, Hadil; Koelbel, Heike; Heil, Lorena; Della Marina, Adela; Weis, Joachim; Assent, Marvin; Beck-Woedl, Stefanie; Barresi, Rita; Toepf, Ana; O'Connor, Kaela; Sickmann, Albert; Kohlschmidt, Nicolai; El Gizouli, Magdeldin; Meyer, Nancy; Daya, Nassam; Grande, Valentina; Bois, Karin; Kaiser, Frank J.; Vorgerd, Matthias; Schroeder, Christopher; Schara-Schmidt, Ulrike; Gangfuss, Andrea; Evangelista, Teresinha; Roebisch, Luisa; Hentschel, Andreas; Grueneboom, Anika; Fuerst, Dieter O.; Kuechler, Alma; Tzschach, Andreas; Depienne, Christel; Lochmueller, Hanns

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Predicting clinical phenotypes of metachromatic leukodystrophy based on the arylsulfatase A activity and the ARSA genotype?-Chances and challenges (vol 137, pg 273, 2022)

MOLECULAR GENETICS AND METABOLISM

IF3.5

2023-03-01

OAAI

Santhanakumaran, Vidiyaah; Groeschel, Samuel; Harzer, Klaus; Kehrer, Christiane; Elguen, Saskia; Beck-Woedl, Stefanie; Hengel, Holger; Schoels, Ludger; Haack, Tobias B.; Kraegeloh-Mann, Ingeborg; Laugwitz, Lucia

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Predicting clinical phenotypes of metachromatic leukodystrophy based on the arylsulfatase A activity and the ARSA genotype?-Chances and challenges

MOLECULAR GENETICS AND METABOLISM

IF3.5

2022-11-01

OAAI

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Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome

GENETICS IN MEDICINE

IF6.2

2022-06-01

OAAI

van der Spek, Jet; den Hoed, Joery; Blok, Lot Snijders; Dingemans, Alexander J. M.; Schijven, Dick; Nellaker, Christoffer; Venselaar, Hanka; Astuti, Galuh D. N.; Barakat, Tahsin Stefan; Bebin, E. Martina; Beck-Wodl, Stefanie; Beunders, Gea; Brown, Natasha J.; Brunet, Theresa; Brunner, Han G.; Campeau, Philippe M.; Cuturilo, Goran; Gilissen, Christian; Haack, Tobias B.; Huning, Irina; Husain, Ralf A.; Kamien, Benjamin; Lim, Sze Chern; Lovrecic, Luca; Magg, Janine; Maver, Ales; Miranda, Valancy; Monteil, Danielle C.; Ockeloen, Charlotte W.; Pais, Lynn S.; Plaiasu, Vasilica; Raiti, Laura; Richmond, Christopher; Riess, Angelika; Schwaibold, Eva M. C.; Simon, Marleen E. H.; Spranger, Stephanie; Tan, Tiong Yang; Thompson, Michelle L.; de Vries, Bert B. A.; Wilkins, Ella J.; Willemsen, Marjolein H.; Francks, Clyde; Vissers, Lisenka E. L. M.; Fisher, Simon E.; Kleefstra, Tjitske

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Patient-individual phenotypes of glioblastoma stem cells are conserved in culture and associate with radioresistance, brain infiltration and patient prognosis

INTERNATIONAL JOURNAL OF CANCER

IF4.7

2022-02-14

OAAI

Ganser, Katrin; Eckert, Franziska; Riedel, Andreas; Stransky, Nicolai; Paulsen, Frank; Noell, Susan; Krueger, Marcel; Schittenhelm, Jens; Beck-Woedl, Stefanie; Zips, Daniel; Ruth, Peter; Huber, Stephan M.; Klumpp, Lukas

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Bi-allelic loss-of-function variants in KIF21A cause severe fetal akinesia with arthrogryposis multiplex

JOURNAL OF MEDICAL GENETICS

IF3.7

2021-11-05

OAAI

Falb, Ruth J.; Mueller, Amelie J.; Klein, Wolfram; Grimmel, Mona; Grasshoff, Ute; Spranger, Stephanie; Stoebe, Petra; Gauck, Darja; Kuechler, Alma; Dikow, Nicola; Schwaibold, Eva M. C.; Schmidt, Christoph; Averdunk, Luisa; Buchert, Rebecca; Heinrich, Tilman; Prodan, Natalia; Park, Joohyun; Kehrer, Martin; Sturm, Marc; Kelemen, Olga; Hartmann, Silke; Horn, Denise; Emmerich, Dirk; Hirt, Nina; Neumann, Armin; Kristiansen, Glen; Gembruch, Ulrich; Haen, Susanne; Siebert, Reiner; Hentze, Sabine; Hoopmann, Markus; Ossowski, Stephan; Waldmueller, Stephan; Beck-Woedl, Stefanie; Glaeser, Dieter; Tekesin, Ismail; Distelmaier, Felix; Riess, Olaf; Kagan, Karl-Oliver; Dufke, Andreas; Haack, Tobias B.

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Identification and Characterization of a Novel Splice Site Mutation Associated with Glycogen Storage Disease Type VI in Two Unrelated Turkish Families

DIAGNOSTICS

IF3.3

2021-03-12

OAAI

Grunert, Sarah C.; Hannibal, Luciana; Schumann, Anke; Rosenbaum-Fabian, Stefanie; Beck-Wodl, Stefanie; Haack, Tobias B.; Grimmel, Mona; Bertrand, Miriam; Spiekerkoetter, Ute

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Association of Age at Onset and First Symptoms With Disease Progression in Patients With Metachromatic Leukodystrophy

NEUROLOGY

IF8.5

2021-01-12

PREAI

Kehrer, Christiane; Elgun, Saskia; Raabe, Christa; Bohringer, Judith; Beck-Wodl, Stefanie; Bevot, Andrea; Kaiser, Nadja; Schols, Ludger; Krageloh-Mann, Ingeborg; Groeschel, Samuel

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The adult phenotype of Schaaf-Yang syndrome

ORPHANET JOURNAL OF RARE DISEASES

IF3.5

2020-10-19

OAAI

Marbach, Felix; Elgizouli, Magdeldin; Rech, Megan; Beygo, Jasmin; Erger, Florian; Velmans, Clara; Stumpel, Constance T. R. M.; Stegmann, Alexander P. A.; Beck-Wodl, Stefanie; Gillessen-Kaesbach, Gabriele; Horsthemke, Bernhard; Schaaf, Christian P.; Kuechler, Alma

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Natural history of Krabbe disease - a nationwide study in Germany using clinical and MRI data

ORPHANET JOURNAL OF RARE DISEASES

IF3.5

2020-09-10

OAAI

Krieg, Sarah Isabel; Kraegeloh-Mann, Ingeborg; Groeschel, Samuel; Beck-Woedl, Stefanie; Husain, Ralf A.; Schoels, Ludger; Kehrer, Christiane

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Clinical, ocular motor, and imaging profile of Niemann-Pick type C heterozygosity

NEUROLOGY

IF8.5

2020-04-21

PREAI

Bremova-Ertl, Tatiana; Sztatecsny, Clara; Brendel, Matthias; Moser, Marlene; Moeller, Bettina; Clevert, Dirk A.; Beck-Woedl, Stefanie; Kun-Rodrigues, Celia; Bras, Jose; Rominger, Axel; Ninov, Dimitar; Strupp, Michael; Schneider, Susanne A.

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The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome (vol 21, pg 1295, 2019)

GENETICS IN MEDICINE

IF6.2

2019-09-01

OAAI

van der Sluijs, Pleuntje J.; Jansen, Sandra; Vergano, Samantha A.; Adachi-Fukuda, Miho; Alanay, Yasemin; AlKindy, Adila; Baban, Anwar; Bayat, Allan; Beck-Woedl, Stefanie; Berry, Katherine; Bijlsma, Emilia K.; Bok, Levinus A.; Brouwer, Alwin F. J.; van der Burgt, Ineke; Campeau, Philippe M.; Canham, Natalie; Chrzanowska, Krystyna; Chu, Yoyo W. Y.; Chung, Brain H. Y.; Dahan, Karin; De Rademaeker, Marjan; Destree, Anne; Dudding-Byth, Tracy; Earl, Rachel; Elcioglu, Nursel; Elias, Ellen R.; Fagerberg, Christina; Gardham, Alice; Gener, Blanca; Gerkes, Erica H.; Grasshoff, Ute; van Haeringen, Arie; Heitink, Karin R.; Herkert, Johanna C.; den Hollander, Nicolette S.; Horn, Denise; Hunt, David; Kant, Sarina G.; Kato, Mitsuhiro; Kayserili, Hulya; Kersseboom, Rogier; Kilic, Esra; Krajewska-Walasek, Malgorzata; Lammers, Kylin; Laulund, Lone W.; Lederer, Damien; Lees, Melissa; Lopez-Gonzalez, Vanesa; Maas, Saskia; Mancini, Grazia M. S.; Marcelis, Carlo; Martinez, Francisco; Maystadt, Isabelle; McGuire, Marianne; Mckee, Shane; Mehta, Sarju; Metcalfe, Kay; Milunsky, Jeff; Mizuno, Seiji; Moeschler, John B.; Netzer, Christian; Ockeloen, Charlotte W.; Oehl-Jaschkowitz, Barbara; Okamoto, Nobuhiko; Olminkhof, Sharon N. M.; Orellana, Carmen; Pasquier, Laurent; Pottinger, Caroline; Riehmer, Vera; Robertson, Stephen P.; Roifman, Maian; Rooryck, Caroline; Ropers, Fabienne G.; Rosello, Monica; Ruivenkamp, Claudia A. L.; Sagiroglu, Mahmut S.; Sallevelt, Suzanne C. E. H.; Calvo, Amparo Sanchis; Simsek-Kiper, Pelin O.; Soares, Gabriela; Solaeche, Lucia; Sonmez, Fatma Mujgan; Splitt, Miranda; Steenbeek, Duco; Stegmann, Alexander P. A.; Stumpel, Constance T. R. M.; Tanabe, Saori; Uctepe, Eyyup; Utine, G. Eda; Veenstra-Knol, Hermine E.; Venkateswaran, Sunita; Vilain, Catheline; Vincent-Delorme, Catherine; Vulto-van Silfhout, Anneke T.; Wheeler, Patricia; Wilson, Golder N.; Wilson, Louise C.; Wollnik, Bernd; Kosho, Tomoki; Wieczorek, Dagmar; Eichler, Evan; Pfundt, Rolph; de Vries, Bert B. A.; Clayton-Smith, Jill; Santen, Gijs W. E.

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Phenotypic variation between siblings with Metachromatic Leukodystrophy

ORPHANET JOURNAL OF RARE DISEASES

IF3.5

2019-06-11

OAAI

Elguen, Saskia; Waibel, Jakob; Kehrer, Christiane; van Rappard, Diane; Boehringer, Judith; Beck-Woedl, Stefanie; Just, Jennifer; Schoels, Ludger; Wolf, Nicole; Kraegeloh-Mann, Ingeborg; Groeschel, Samuel

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The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome

GENETICS IN MEDICINE

IF6.2

2019-06-01

OAAI

van der Sluijs, Pleuntje J.; Jansen, Sandra; Vergano, Samantha A.; Adachi-Fukuda, Miho; Alanay, Yasemin; AlKindy, Adila; Baban, Anwar; Bayat, Allan; Beck-Woedl, Stefanie; Berry, Katherine; Bijlsma, Emilia K.; Bok, Levinus A.; Brouwer, Alwin F. J.; van der Burgt, Ineke; Campeau, Philippe M.; Canham, Natalie; Chrzanowska, Krystyna; Chu, Yoyo W. Y.; Chung, Brain H. Y.; Dahan, Karin; De Rademaeker, Marjan; Destree, Anne; Dudding-Byth, Tracy; Earl, Rachel; Elcioglu, Nursel; Elias, Ellen R.; Fagerberg, Christina; Gardham, Alice; Gener, Blanca; Gerkes, Erica H.; Grasshoff, Ute; van Haeringen, Arie; Heitink, Karin R.; Herkert, Johanna C.; den Hollander, Nicolette S.; Horn, Denise; Hunt, David; Kant, Sarina G.; Kato, Mitsuhiro; Kayserili, Hulya; Kersseboom, Rogier; Kilic, Esra; Krajewska-Walasek, Malgorzata; Lammers, Kylin; Laulund, Lone W.; Lederer, Damien; Lees, Melissa; Lopez-Gonzalez, Vanesa; Maas, Saskia; Mancini, Grazia M. S.; Marcelis, Carlo; Martinez, Francisco; Maystadt, Isabelle; McGuire, Marianne; McKee, Shane; Mehta, Sarju; Metcalfe, Kay; Milunsky, Jeff; Mizuno, Seiji; Moeschler, John B.; Netzer, Christian; Ockeloen, Charlotte W.; Oehl-Jaschkowitz, Barbara; Okamoto, Nobuhiko; Olminkhof, Sharon N. M.; Orellana, Carmen; Pasquier, Laurent; Pottinger, Caroline; Riehmer, Vera; Robertson, Stephen P.; Roifman, Maian; Rooryck, Caroline; Ropers, Fabienne G.; Rosello, Monica; Ruivenkamp, Claudia A. L.; Sagiroglu, Mahmut S.; Sallevelt, Suzanne C. E. H.; Sanchis Calvo, Amparo; Simsek-Kiper, Pelin O.; Soares, Gabriela; Solaeche, Lucia; Sonmez, Fatma Mujgan; Splitt, Miranda; Steenbeek, Duco; Stegmann, Alexander P. A.; Stumpel, Constance T. R. M.; Tanabe, Saori; Uctepe, Eyyup; Utine, G. Eda; Veenstra-Knol, Hermine E.; Venkateswaran, Sunita; Vilain, Catheline; Vincent-Delorme, Catherine; Vulto-van Silfhout, Anneke T.; Wheeler, Patricia; Wilson, Golder N.; Wilson, Louise C.; Wollnik, Bernd; Kosho, Tomoki; Wieczorek, Dagmar; Eichler, Evan; Pfundt, Rolph; de Vries, Bert B. A.; Clayton-Smith, Jill; Santen, Gijs W. E.

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Homozygous TBC1 domain-containing kinase (TBCK) mutation causes a novel lysosomal storage disease - a new type of neuronal ceroid lipofuscinosis (CLN15)?

ACTA NEUROPATHOLOGICA COMMUNICATIONS

IF5.7

2018-12-27

OAAI

Beck-Woedl, Stefanie; Harzer, Klaus; Sturm, Marc; Buchert, Rebecca; Riess, Olaf; Mennel, Hans-Dieter; Latta, Elisabeth; Pagenstecher, Axel; Keber, Ursula

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De novo FBXO11 mutations are associated with intellectual disability and behavioural anomalies

HUMAN GENETICS

IF3.6

2018-05-23

PREAI

Fritzen, Daniel; Kuechler, Alma; Grimmel, Mona; Becker, Jessica; Peters, Sophia; Sturm, Marc; Hundertmark, Hela; Schmidt, Axel; Kreiss, Martina; Strom, Tim M.; Wieczorek, Dagmar; Haack, Tobias B.; Beck-Woedl, Stefanie; Cremer, Kirsten; Engels, Hartmut

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Uniparental disomy of chromosome 16 unmasks recessive mutations of FA2H/SPG35 in 4 families

NEUROLOGY

IF8.5

2016-07-12

OAAI

Soehn, Anne S.; Rattay, Tim W.; Beck-Woedl, Stefanie; Schaeferhoff, Karin; Monk, David; Doebler-Neumann, Marion; Hoertnagel, Konstanze; Schluter, Agatha; Ruiz, Montserrat; Pujol, Aurora; Zuchner, Stephan; Riess, Olaf; Schule, Rebecca; Bauer, Peter; Schoels, Ludger

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Research Directions