Saskia B Wortmann (Saskia Wortmann)

ORCID

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 33

Top Venues

International journal of neonatal screening

Science advances

Genes

Journal of inherited metabolic disease

This page only lists publications with an associated author ORCID identifier.

Publications

Stella Knöpfli, Bernadette Goeschl, Maximilian Zeyda, Anna Baghdasaryan, Margot Baumgartner-Kaut, Matthias R Baumgartner, Marion Herle, Julian Margreitter, Martin Poms, Saskia B Wortmann, Vassiliki Konstantopoulou, Martina Huemer
The Benefit of Detecting Reduced Intracellular B12 Activity through Newborn Screening Remains Unclear. International journal of neonatal screening 10 (2) (2024)
Gwendolyn Gramer, Saskia B Wortmann, Junmin Fang-Hoffmann, Dirk Kohlmüller, Jürgen G Okun, Holger Prokisch, Thomas Meitinger, Georg Friedrich Hoffmann
New Cases of Maleylacetoacetate Isomerase Deficiency with Detection by Newborn Screening and Natural History over 32 Years: Experience from a German Newborn Screening Center. International journal of neonatal screening 10 (1) (2024)
Gwendolyn Gramer, Saskia B Wortmann, Junmin Fang-Hoffmann, Dirk Kohlmüller, Jürgen G Okun, Holger Prokisch, Thomas Meitinger, Georg Friedrich Hoffmann
New Cases of Maleylacetoacetate Isomerase Deficiency with Detection by Newborn Screening and Natural History over 32 Years: Experience from a German Newborn Screening Center. International journal of neonatal screening 10 (1) (2024)
Oliver Heath, Emma Hammerl, Anna Spitzinger, Saskia B Wortmann
Ending an Odyssey? The Psychosocial Experiences of Parents after the Genetic Diagnosis of a Mitochondrial Disease in Children. Journal of personalized medicine 14 (5) (2024)
Saskia B Wortmann, Rene G Feichtinger, Lucia Abela, Loes Annet van Gemert, Mélodie Aubart, Claire-Marine Dufeu-Berat, Nathalie Boddaert, Rene de Coo, Lara Stühn, Jasmijn Hebbink, Wolfram Heinritz, Julia Hildebrandt, Nastassja Himmelreich, Christoph Korenke, Anna Lehman, Thomas Leyland, Christine Makowski, Rafael Jenaro Martinez Marin, Pauline Marzin, Chris Mühlhausen, Marlène Rio, Agnes Rotig, Charles-Joris Roux, Manuel Schiff, Tobias B Haack, Steffen Syrbe, Stas A Zylicz, Christian Thiel, Maria Veiga da Cunha, Emile van Schaftingen, Matias Wagner, Johannes Adalbert Mayr, Ron A Wevers, Eugen Boltshauser, Michel A A P Willemsen
Clinical, Neuroimaging, and Metabolic Footprint of the Neurodevelopmental Disorder Caused by Monoallelic HK1 Variants. Neurology. Genetics 10 (2) (2024)
Gwendolyn Gramer, Saskia B Wortmann, Junmin Fang-Hoffmann, Dirk Kohlmüller, Jürgen G Okun, Holger Prokisch, Thomas Meitinger, Georg Friedrich Hoffmann
New Cases of Maleylacetoacetate Isomerase Deficiency with Detection by Newborn Screening and Natural History over 32 Years: Experience from a German Newborn Screening Center. International journal of neonatal screening 10 (1) (2024)
Saskia B Wortmann, Rene G Feichtinger, Lucia Abela, Loes Annet van Gemert, Mélodie Aubart, Claire-Marine Dufeu-Berat, Nathalie Boddaert, Rene de Coo, Lara Stühn, Jasmijn Hebbink, Wolfram Heinritz, Julia Hildebrandt, Nastassja Himmelreich, Christoph Korenke, Anna Lehman, Thomas Leyland, Christine Makowski, Rafael Jenaro Martinez Marin, Pauline Marzin, Chris Mühlhausen, Marlène Rio, Agnes Rotig, Charles-Joris Roux, Manuel Schiff, Tobias B Haack, Steffen Syrbe, Stas A Zylicz, Christian Thiel, Maria Veiga da Cunha, Emile van Schaftingen, Matias Wagner, Johannes Adalbert Mayr, Ron A Wevers, Eugen Boltshauser, Michel A A P Willemsen
Clinical, Neuroimaging, and Metabolic Footprint of the Neurodevelopmental Disorder Caused by Monoallelic HK1 Variants. Neurology. Genetics 10 (2) (2024)
Saskia B Wortmann, Rene G Feichtinger, Lucia Abela, Loes Annet van Gemert, Mélodie Aubart, Claire-Marine Dufeu-Berat, Nathalie Boddaert, Rene de Coo, Lara Stühn, Jasmijn Hebbink, Wolfram Heinritz, Julia Hildebrandt, Nastassja Himmelreich, Christoph Korenke, Anna Lehman, Thomas Leyland, Christine Makowski, Rafael Jenaro Martinez Marin, Pauline Marzin, Chris Mühlhausen, Marlène Rio, Agnes Rotig, Charles-Joris Roux, Manuel Schiff, Tobias B Haack, Steffen Syrbe, Stas A Zylicz, Christian Thiel, Maria Veiga da Cunha, Emile van Schaftingen, Matias Wagner, Johannes Adalbert Mayr, Ron A Wevers, Eugen Boltshauser, Michel A A P Willemsen
Clinical, Neuroimaging, and Metabolic Footprint of the Neurodevelopmental Disorder Caused by Monoallelic HK1 Variants. Neurology. Genetics 10 (2) (2024)
Stella Knöpfli, Bernadette Goeschl, Maximilian Zeyda, Anna Baghdasaryan, Margot Baumgartner-Kaut, Matthias R Baumgartner, Marion Herle, Julian Margreitter, Martin Poms, Saskia B Wortmann, Vassiliki Konstantopoulou, Martina Huemer
The Benefit of Detecting Reduced Intracellular B12 Activity through Newborn Screening Remains Unclear. International journal of neonatal screening 10 (2) (2024)
Stella Knöpfli, Bernadette Goeschl, Maximilian Zeyda, Anna Baghdasaryan, Margot Baumgartner-Kaut, Matthias R Baumgartner, Marion Herle, Julian Margreitter, Martin Poms, Saskia B Wortmann, Vassiliki Konstantopoulou, Martina Huemer
The Benefit of Detecting Reduced Intracellular B12 Activity through Newborn Screening Remains Unclear. International journal of neonatal screening 10 (2) (2024)
Oliver Heath, Emma Hammerl, Anna Spitzinger, Saskia B Wortmann
Ending an Odyssey? The Psychosocial Experiences of Parents after the Genetic Diagnosis of a Mitochondrial Disease in Children. Journal of personalized medicine 14 (5) (2024)
Sarah E Sheppard, Laura Bryant, Rochelle N Wickramasekara, Courtney Vaccaro, Brynn Robertson, Jodi Hallgren, Jason Hulen, Cynthia J Watson, Víctor Faundes, Yannis Duffourd, Pearl Lee, M Celeste Simon, Xavier de la Cruz, Natália Padilla, Marco Flores-Mendez, Naiara Akizu, Jacqueline Smiler, Renata Pellegrino Da Silva, Dong Li, Michael E March, Abdias Diaz-Rosado, Isabella Peixoto de Barcelos, Zhao Xiang Choa, Chin Yan Lim, Christele Dubourg, Hubert Journel, Florence Demurger, Maureen S Mulhern, Cigdem Akman, Natalie Lippa, Marisa V Andrews, Dustin Baldridge, John N Constantino, Arie van Haeringen, Irina Snoeck-Streef, Penny Chow, Anne Hing, John M Graham, Margaret Au, Laurence Olivier-Faivre, Wei Shen, Rong Mao, Janice Palumbos, David Viskochil, William A Gahl, Cynthia J Tifft, Ellen F Macnamara, Natalie Hauser, Rebecca Miller, Jessica Maffeo, Alexandra Afenjar, Diane Doummar, Boris Keren, Pamela Arn, Sarah K Macklin, Ilse Meerschaut, Bert Callewaert, André Reis, Christiane Zweier, Carole Brewer, Anand Saggar, Marie F Smeland, Ajith Kumar, Frances Elmslie, Charu Deshpande, Mathilde Nizon, Benjamin Cogne, Yvette van Ierland, Martina Wilke, Marjon van Slegtenhorst, Suzanne Koudijs, Jin Yun Chen, David Dredge, Danielle Pier, Saskia B Wortmann, Erik-Jan Kamsteeg, Johannes Koch, Devon Haynes, Lynda Pollack, Hannah Titheradge, Kara Ranguin, Anne Sophie Denommé-Pichon, Sacha Weber, Rubén Pérez de la Fuente, Jaime Sánchez Del Pozo, Jose Miguel Lezana Rosales, Pascal Joset, Katharina Steindl, Anita Rauch, Davide Mei, Francesco Mari, Renzo Guerrini, James Lespinasse, Frédéric Tran Mau Them, Christophe Philippe, Benjamin Dauriat, Laure Raymond, Sebastien Moutton, Anna Maria Cueto-González, Tiong Yang Tan, Cyril Mignot, Sarah Grotto, Florence Renaldo, Theodore G Drivas, Laura Hennessy, Anna Raper, Ilaria Parenti, Frank J Kaiser, Alma Kuechler, Øyvind L Busk, Lily Islam, Jacob A Siedlik, Lindsay B Henderson, Jane Juusola, Richard Person, Rhonda E Schnur, Antonio Vitobello, Siddharth Banka, Elizabeth Joyce Bhoj, Holly A F Stessman
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice. Science advances 9 (10) (2023)
René Günther Feichtinger, Martin Preisel, Karin Brugger, Saskia B Wortmann, Johannes Adalbert Mayr
Case Report-An Inherited Loss-of-Function NRXN3 Variant Potentially Causes a Neurodevelopmental Disorder with Autism Consistent with Previously Described 14q24.3-31.1 Deletions. Genes 14 (6) (2023)
René Günther Feichtinger, Martin Preisel, Karin Brugger, Saskia B Wortmann, Johannes Adalbert Mayr
Case Report-An Inherited Loss-of-Function NRXN3 Variant Potentially Causes a Neurodevelopmental Disorder with Autism Consistent with Previously Described 14q24.3-31.1 Deletions. Genes 14 (6) (2023)
Francisco Del Caño-Ochoa, Bobby George Ng, Antonio Rubio-Del-Campo, Sonal Mahajan, Matthew P Wilson, Marçal Vilar, Daisy Rymen, Paula Sánchez-Pintos, Janna Kenny, Myriam Ley Martos, Teresa Campos, Saskia B Wortmann, Hudson H Freeze, Santiago Ramón-Maiques
Beyond genetics: Deciphering the impact of missense variants in CAD deficiency. Journal of inherited metabolic disease (2023)
Melanie T Achleitner, Judith J M Jans, Laura Ebner, Johannes Spenger, Vassiliki Konstantopoulou, René Günther Feichtinger, Karin Brugger, Doris Mayr, Ron A Wevers, Christian Thiel, Saskia B Wortmann, Johannes Adalbert Mayr
PPA1 Deficiency Causes a Deranged Galactose Metabolism Recognizable in Neonatal Screening. Metabolites 13 (11) (2023)
Sarah E Sheppard, Laura Bryant, Rochelle N Wickramasekara, Courtney Vaccaro, Brynn Robertson, Jodi Hallgren, Jason Hulen, Cynthia J Watson, Víctor Faundes, Yannis Duffourd, Pearl Lee, M Celeste Simon, Xavier de la Cruz, Natália Padilla, Marco Flores-Mendez, Naiara Akizu, Jacqueline Smiler, Renata Pellegrino Da Silva, Dong Li, Michael E March, Abdias Diaz-Rosado, Isabella Peixoto de Barcelos, Zhao Xiang Choa, Chin Yan Lim, Christele Dubourg, Hubert Journel, Florence Demurger, Maureen S Mulhern, Cigdem Akman, Natalie Lippa, Marisa V Andrews, Dustin Baldridge, John N Constantino, Arie van Haeringen, Irina Snoeck-Streef, Penny Chow, Anne Hing, John M Graham, Margaret Au, Laurence Olivier-Faivre, Wei Shen, Rong Mao, Janice Palumbos, David Viskochil, William A Gahl, Cynthia J Tifft, Ellen F Macnamara, Natalie Hauser, Rebecca Miller, Jessica Maffeo, Alexandra Afenjar, Diane Doummar, Boris Keren, Pamela Arn, Sarah K Macklin, Ilse Meerschaut, Bert Callewaert, André Reis, Christiane Zweier, Carole Brewer, Anand Saggar, Marie F Smeland, Ajith Kumar, Frances Elmslie, Charu Deshpande, Mathilde Nizon, Benjamin Cogne, Yvette van Ierland, Martina Wilke, Marjon van Slegtenhorst, Suzanne Koudijs, Jin Yun Chen, David Dredge, Danielle Pier, Saskia B Wortmann, Erik-Jan Kamsteeg, Johannes Koch, Devon Haynes, Lynda Pollack, Hannah Titheradge, Kara Ranguin, Anne Sophie Denommé-Pichon, Sacha Weber, Rubén Pérez de la Fuente, Jaime Sánchez Del Pozo, Jose Miguel Lezana Rosales, Pascal Joset, Katharina Steindl, Anita Rauch, Davide Mei, Francesco Mari, Renzo Guerrini, James Lespinasse, Frédéric Tran Mau Them, Christophe Philippe, Benjamin Dauriat, Laure Raymond, Sebastien Moutton, Anna Maria Cueto-González, Tiong Yang Tan, Cyril Mignot, Sarah Grotto, Florence Renaldo, Theodore G Drivas, Laura Hennessy, Anna Raper, Ilaria Parenti, Frank J Kaiser, Alma Kuechler, Øyvind L Busk, Lily Islam, Jacob A Siedlik, Lindsay B Henderson, Jane Juusola, Richard Person, Rhonda E Schnur, Antonio Vitobello, Siddharth Banka, Elizabeth Joyce Bhoj, Holly A F Stessman
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice. Science advances 9 (10) (2023)
René Günther Feichtinger, Martin Preisel, Karin Brugger, Saskia B Wortmann, Johannes Adalbert Mayr
Case Report-An Inherited Loss-of-Function NRXN3 Variant Potentially Causes a Neurodevelopmental Disorder with Autism Consistent with Previously Described 14q24.3-31.1 Deletions. Genes 14 (6) (2023)
Sarah E Sheppard, Laura Bryant, Rochelle N Wickramasekara, Courtney Vaccaro, Brynn Robertson, Jodi Hallgren, Jason Hulen, Cynthia J Watson, Víctor Faundes, Yannis Duffourd, Pearl Lee, M Celeste Simon, Xavier de la Cruz, Natália Padilla, Marco Flores-Mendez, Naiara Akizu, Jacqueline Smiler, Renata Pellegrino Da Silva, Dong Li, Michael E March, Abdias Diaz-Rosado, Isabella Peixoto de Barcelos, Zhao Xiang Choa, Chin Yan Lim, Christele Dubourg, Hubert Journel, Florence Demurger, Maureen S Mulhern, Cigdem Akman, Natalie Lippa, Marisa V Andrews, Dustin Baldridge, John N Constantino, Arie van Haeringen, Irina Snoeck-Streef, Penny Chow, Anne Hing, John M Graham, Margaret Au, Laurence Olivier-Faivre, Wei Shen, Rong Mao, Janice Palumbos, David Viskochil, William A Gahl, Cynthia J Tifft, Ellen F Macnamara, Natalie Hauser, Rebecca Miller, Jessica Maffeo, Alexandra Afenjar, Diane Doummar, Boris Keren, Pamela Arn, Sarah K Macklin, Ilse Meerschaut, Bert Callewaert, André Reis, Christiane Zweier, Carole Brewer, Anand Saggar, Marie F Smeland, Ajith Kumar, Frances Elmslie, Charu Deshpande, Mathilde Nizon, Benjamin Cogne, Yvette van Ierland, Martina Wilke, Marjon van Slegtenhorst, Suzanne Koudijs, Jin Yun Chen, David Dredge, Danielle Pier, Saskia B Wortmann, Erik-Jan Kamsteeg, Johannes Koch, Devon Haynes, Lynda Pollack, Hannah Titheradge, Kara Ranguin, Anne Sophie Denommé-Pichon, Sacha Weber, Rubén Pérez de la Fuente, Jaime Sánchez Del Pozo, Jose Miguel Lezana Rosales, Pascal Joset, Katharina Steindl, Anita Rauch, Davide Mei, Francesco Mari, Renzo Guerrini, James Lespinasse, Frédéric Tran Mau Them, Christophe Philippe, Benjamin Dauriat, Laure Raymond, Sebastien Moutton, Anna Maria Cueto-González, Tiong Yang Tan, Cyril Mignot, Sarah Grotto, Florence Renaldo, Theodore G Drivas, Laura Hennessy, Anna Raper, Ilaria Parenti, Frank J Kaiser, Alma Kuechler, Øyvind L Busk, Lily Islam, Jacob A Siedlik, Lindsay B Henderson, Jane Juusola, Richard Person, Rhonda E Schnur, Antonio Vitobello, Siddharth Banka, Elizabeth Joyce Bhoj, Holly A F Stessman
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice. Science advances 9 (10) (2023)
Maria Veiga-da-Cunha, Saskia B Wortmann, Sarah Catharina Grünert, Emile Van Schaftingen
Treatment of the Neutropenia Associated with GSD1b and G6PC3 Deficiency with SGLT2 Inhibitors. Diagnostics (Basel, Switzerland) 13 (10) (2023)
René Günther Feichtinger, Martin Preisel, Karin Brugger, Saskia B Wortmann, Johannes Adalbert Mayr
Case Report-An Inherited Loss-of-Function NRXN3 Variant Potentially Causes a Neurodevelopmental Disorder with Autism Consistent with Previously Described 14q24.3-31.1 Deletions. Genes 14 (6) (2023)
Sarah E Sheppard, Laura Bryant, Rochelle N Wickramasekara, Courtney Vaccaro, Brynn Robertson, Jodi Hallgren, Jason Hulen, Cynthia J Watson, Víctor Faundes, Yannis Duffourd, Pearl Lee, M Celeste Simon, Xavier de la Cruz, Natália Padilla, Marco Flores-Mendez, Naiara Akizu, Jacqueline Smiler, Renata Pellegrino Da Silva, Dong Li, Michael E March, Abdias Diaz-Rosado, Isabella Peixoto de Barcelos, Zhao Xiang Choa, Chin Yan Lim, Christele Dubourg, Hubert Journel, Florence Demurger, Maureen S Mulhern, Cigdem Akman, Natalie Lippa, Marisa V Andrews, Dustin Baldridge, John N Constantino, Arie van Haeringen, Irina Snoeck-Streef, Penny Chow, Anne Hing, John M Graham, Margaret Au, Laurence Olivier-Faivre, Wei Shen, Rong Mao, Janice Palumbos, David Viskochil, William A Gahl, Cynthia J Tifft, Ellen F Macnamara, Natalie Hauser, Rebecca Miller, Jessica Maffeo, Alexandra Afenjar, Diane Doummar, Boris Keren, Pamela Arn, Sarah K Macklin, Ilse Meerschaut, Bert Callewaert, André Reis, Christiane Zweier, Carole Brewer, Anand Saggar, Marie F Smeland, Ajith Kumar, Frances Elmslie, Charu Deshpande, Mathilde Nizon, Benjamin Cogne, Yvette van Ierland, Martina Wilke, Marjon van Slegtenhorst, Suzanne Koudijs, Jin Yun Chen, David Dredge, Danielle Pier, Saskia B Wortmann, Erik-Jan Kamsteeg, Johannes Koch, Devon Haynes, Lynda Pollack, Hannah Titheradge, Kara Ranguin, Anne Sophie Denommé-Pichon, Sacha Weber, Rubén Pérez de la Fuente, Jaime Sánchez Del Pozo, Jose Miguel Lezana Rosales, Pascal Joset, Katharina Steindl, Anita Rauch, Davide Mei, Francesco Mari, Renzo Guerrini, James Lespinasse, Frédéric Tran Mau Them, Christophe Philippe, Benjamin Dauriat, Laure Raymond, Sebastien Moutton, Anna Maria Cueto-González, Tiong Yang Tan, Cyril Mignot, Sarah Grotto, Florence Renaldo, Theodore G Drivas, Laura Hennessy, Anna Raper, Ilaria Parenti, Frank J Kaiser, Alma Kuechler, Øyvind L Busk, Lily Islam, Jacob A Siedlik, Lindsay B Henderson, Jane Juusola, Richard Person, Rhonda E Schnur, Antonio Vitobello, Siddharth Banka, Elizabeth Joyce Bhoj, Holly A F Stessman
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice. Science advances 9 (10) (2023)
Saskia B Wortmann, Machteld M Oud, Mariëlle Alders, Karlien L M Coene, Saskia N van der Crabben, René G Feichtinger, Alejandro Garanto, Alex Hoischen, Mirjam Langeveld, Dirk Lefeber, Johannes A Mayr, Charlotte W Ockeloen, Holger Prokisch, Richard Rodenburg, Hans R Waterham, Ron A Wevers, Bart P C van de Warrenburg, Michel A A P Willemsen, Nicole I Wolf, Lisenka E L M Vissers, Clara D M van Karnebeek
How to proceed after "negative" exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques. Journal of inherited metabolic disease 45 (4) (2022)
Marcello Scala, Saskia B Wortmann, Namik Kaya, Menno D Stellingwerff, Angela Pistorio, Emma Glamuzina, Clara D van Karnebeek, Cristina Skrypnyk, Katarzyna Iwanicka-Pronicka, Dorota Piekutowska-Abramczuk, Elżbieta Ciara, Frederic Tort, Beth Sheidley, Annapurna Poduri, Parul Jayakar, Anuj Jayakar, Jariya Upadia, Nicolette Walano, Tobias B Haack, Holger Prokisch, Hesham Aldhalaan, Ehsan G Karimiani, Yilmaz Yildiz, Ahmet C Ceylan, Teresa Santiago-Sim, Amy Dameron, Hui Yang, Mehran B Toosi, Farah Ashrafzadeh, Javad Akhondian, Shima Imannezhad, Hanieh S Mirzadeh, Shazia Maqbool, Aisha Farid, Mohamed A Al-Muhaizea, Meznah O Alshwameen, Lama Aldowsari, Maysoon Alsagob, Ashwaq Alyousef, Rawan AlMass, Aljouhra AlHargan, Ali H Alwadei, Maha M AlRasheed, Dilek Colak, Hanan Alqudairy, Sameena Khan, Matthew A Lines, M Ángeles García Cazorla, Antonia Ribes, Eva Morava, Farah Bibi, Shahzad Haider, Matteo P Ferla, Jenny C Taylor, Hessa S Alsaif, Abdulwahab Firdous, Mais Hashem, Chingiz Shashkin, Kairgali Koneev, Rauan Kaiyrzhanov, Stephanie Efthymiou, Queen Square Genomics, Thomas Schmitt-Mechelke, Andreas Ziegler, Mahmoud Y Issa, Hasnaa M Elbendary, Pasquale Striano, Fowzan Sami Alkuraya, Maha S Zaki, Joseph G Gleeson, Tahsin Stefan Barakat, Jorgen Bierau, Marjo S van der Knaap, Reza Maroofian, Henry Houlden
Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency. Human mutation 43 (3) (2022)
Andreas Hüllen, Kristina Falkenstein, Corina Weigel, Hidde Huidekoper, Nora Naumann-Bartsch, Johannes Spenger, René G Feichtinger, Jacqueline Schaefers, Stephanie Frenz, Daniel Kotlarz, Tooba Momen, Razieh Khoshnevisan, Korbinian M Riedhammer, René Santer, Theresia Herget, Alexander Rennings, Dirk J Lefeber, Johannes A Mayr, Christian Thiel, Saskia B Wortmann
Congenital disorders of glycosylation with defective fucosylation. Journal of inherited metabolic disease 44 (6) (2021)
René Günther Feichtinger, Andreas Hüllen, Andreas Koller, Dieter Kotzot, Valerian Grote, Erdmann Rapp, Peter Hofbauer, Karin Brugger, Christian Thiel, Johannes Adalbert Mayr, Saskia B Wortmann
A spoonful of L-fucose-an efficient therapy for GFUS-CDG, a new glycosylation disorder. EMBO molecular medicine 13 (9) (2021)
Saskia B Wortmann, Szymon Ziętkiewicz, Sergio Guerrero-Castillo, René G Feichtinger, Matias Wagner, Jacqui Russell, Carolyn Ellaway, Dagmara Mróz, Hubert Wyszkowski, Denisa Weis, Iris Hannibal, Celina von Stülpnagel, Alfredo Cabrera-Orefice, Uta Lichter-Konecki, Jenna Gaesser, Randy Windreich, Kasiani C Myers, Robert Lorsbach, Russell C Dale, Søren Gersting, Carlos E Prada, John Christodoulou, Nicole I Wolf, Hanka Venselaar, Johannes A Mayr, Ron A Wevers
Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency. Genetics in medicine : official journal of the American College of Medical Genetics 23 (9) (2021)
Wolfgang Sperl, Saskia B Wortmann, René Günther Feichtinger, Johannes Adalbert Mayr
The switch in the diagnosis of mitochondrial diseases from the classical 'function first' to the NGS-based 'genetics first' diagnostic era. Journal of mother and child 24 (2) (2020)
Matthias Schaffert, Franz Zimmermann, Leopold Bauer, Simon Kastner, Astrid Schwarz, Volker Strenger, Roman Metzger, Leonhard Thun-Hohenstein, Wolfgang Sperl, Daniel Weghuber, Saskia B Wortmann
Austrian study shows that delays in accessing acute paediatric health care outweighed the risks of COVID-19. Acta paediatrica (Oslo, Norway : 1992) 109 (11) (2020)
Daisy Rymen, Martijn Lindhout, Maria Spanou, Farah Ashrafzadeh, Ira Benkel, Cornelia Betzler, Christine Coubes, Hans Hartmann, Julie D Kaplan, Diana Ballhausen, Johannes Koch, Jan Lotte, Mohammad Hasan Mohammadi, Marianne Rohrbach, Argirios Dinopoulos, Marieke Wermuth, Daniel Willis, Karin Brugger, Ron A Wevers, Eugen Boltshauser, Jörgen Bierau, Johannes A Mayr, Saskia B Wortmann
Expanding the clinical and genetic spectrum of CAD deficiency: an epileptic encephalopathy treatable with uridine supplementation. Genetics in medicine : official journal of the American College of Medical Genetics 22 (10) (2020)
Matias Wagner, Riccardo Berutti, Bettina Lorenz-Depiereux, Elisabeth Graf, Gertrud Eckstein, Johannes A Mayr, Thomas Meitinger, Uwe Ahting, Holger Prokisch, Tim M Strom, Saskia B Wortmann
Mitochondrial DNA mutation analysis from exome sequencing-A more holistic approach in diagnostics of suspected mitochondrial disease. Journal of inherited metabolic disease 42 (5) (2019)
Saskia B Wortmann, Sharita Timal, Hanka Venselaar, Liesbeth T Wintjes, Robert Kopajtich, René G Feichtinger, Carla Onnekink, Mareike Mühlmeister, Ulrich Brandt, Jan A Smeitink, Joris A Veltman, Wolfgang Sperl, Dirk Lefeber, Ger Pruijn, Vesna Stojanovic, Peter Freisinger, Francjan V Spronsen, Terry Gj Derks, Hermine E Veenstra-Knol, Johannes A Mayr, Agnes Rötig, Mark Tarnopolsky, Holger Prokisch, Richard J Rodenburg
Biallelic variants in WARS2 encoding mitochondrial tryptophanyl-tRNA synthase in six individuals with mitochondrial encephalopathy. Human mutation 38 (12) (2017)
Ayman W. El-Hattab, Hongzheng Dai, Mohammed Almannai, Julia Wang, Eissa A Faqeih, Ali Al Asmari, Mohammed A M Saleh, Mohammed A O Elamin, Majid Alfadhel, Fowzan S Alkuraya, Mais Hashem, Mazhor S Aldosary, Rawan Almass, Faten B Almutairi, Maysoon Alsagob, Mohammed Al-Owain, Shirin Al-Sharfa, Zuhair N Al-Hassnan, Zuhair Rahbeeni, Mohammed A Al-Muhaizea, Nawal Makhseed, Gretchen K Foskett, David A Stevenson, Natalia Gomez-Ospina, Chung Lee, Richard G Boles, Samantha A Schrier Vergano, Saskia B Wortmann, Wolfgang Sperl, Thomas Opladen, Georg F Hoffmann, Maja Hempel, Holger Prokisch, Bader Alhaddad, Johannes Adalbert Mayr, Wenyaw Chan, Namik Kaya, Lee-Jun C Wong
Molecular and clinical spectra of FBXL4 deficiency. Human mutation 38 (12) (2017)

Saskia B Wortmann.css-eqlu8i{font-size:small;padding-left:4px;} (Saskia Wortmann)

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Saskia B Wortmann (Saskia Wortmann)