Kerstin Kutsche (K Kutsche)

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 31

Top Topics

Intellectual Disability

Aortic Aneurysm

Top Venues

European journal of human genetics : EJHG

American journal of medical genetics. Part A

Journal of medical genetics

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

Publications

Laura Hecher, Esther Gorski-Alberts, Matthias Begemann, Johanna Herwig, Eva Lausberg, Georg Hillebrand, Alexander E Volk, Ingo Kurth, Florian Kraft, Kerstin Kutsche
Complex structural variation and nonsense variant in trans cause VPS50 -related disorder. Journal of medical genetics 61 (9) (2024)
Laura Hecher, Esther Gorski-Alberts, Matthias Begemann, Johanna Herwig, Eva Lausberg, Georg Hillebrand, Alexander E Volk, Ingo Kurth, Florian Kraft, Kerstin Kutsche
Complex structural variation and nonsense variant in trans cause VPS50 -related disorder. Journal of medical genetics 61 (9) (2024)
Frederike L Harms, Jessica Erin Rexach, Stephanie Efthymiou, Busra Aynekin, Hüseyin Per, Ayten Güleç, Sheela Nampoothiri, Hugo Sampaio, Rani Sachdev, Radka Stoeva, Kasiani Myers, Loren D M Pena, Theodosia A Kalfa, Marisa Chard, Megan Klassen, Megan Pries, Kerstin Kutsche
Loss of TBC1D2B causes a progressive neurological disorder with gingival overgrowth. European journal of human genetics : EJHG 32 (5) (2024)
Frederike L Harms, Jessica Erin Rexach, Stephanie Efthymiou, Busra Aynekin, Hüseyin Per, Ayten Güleç, Sheela Nampoothiri, Hugo Sampaio, Rani Sachdev, Radka Stoeva, Kasiani Myers, Loren D M Pena, Theodosia A Kalfa, Marisa Chard, Megan Klassen, Megan Pries, Kerstin Kutsche
Loss of TBC1D2B causes a progressive neurological disorder with gingival overgrowth. European journal of human genetics : EJHG 32 (5) (2024)
Frederike L Harms, Jessica Erin Rexach, Stephanie Efthymiou, Busra Aynekin, Hüseyin Per, Ayten Güleç, Sheela Nampoothiri, Hugo Sampaio, Rani Sachdev, Radka Stoeva, Kasiani Myers, Loren D M Pena, Theodosia A Kalfa, Marisa Chard, Megan Klassen, Megan Pries, Kerstin Kutsche
Loss of TBC1D2B causes a progressive neurological disorder with gingival overgrowth. European journal of human genetics : EJHG 32 (5) (2024)
Frederike L Harms, Jessica Erin Rexach, Stephanie Efthymiou, Busra Aynekin, Hüseyin Per, Ayten Güleç, Sheela Nampoothiri, Hugo Sampaio, Rani Sachdev, Radka Stoeva, Kasiani Myers, Loren D M Pena, Theodosia A Kalfa, Marisa Chard, Megan Klassen, Megan Pries, Kerstin Kutsche
Loss of TBC1D2B causes a progressive neurological disorder with gingival overgrowth. European journal of human genetics : EJHG (2024)
Frederike L Harms, Jessica Erin Rexach, Stephanie Efthymiou, Busra Aynekin, Hüseyin Per, Ayten Güleç, Sheela Nampoothiri, Hugo Sampaio, Rani Sachdev, Radka Stoeva, Kasiani Myers, Loren D M Pena, Theodosia A Kalfa, Marisa Chard, Megan Klassen, Megan Pries, Kerstin Kutsche
Loss of TBC1D2B causes a progressive neurological disorder with gingival overgrowth. European journal of human genetics : EJHG 32 (5) (2024)
Laura Hecher, Esther Gorski-Alberts, Matthias Begemann, Johanna Herwig, Eva Lausberg, Georg Hillebrand, Alexander E Volk, Ingo Kurth, Florian Kraft, Kerstin Kutsche
Complex structural variation and nonsense variant in trans cause VPS50 -related disorder. Journal of medical genetics (2024)
Laura Hecher, Esther Gorski-Alberts, Matthias Begemann, Johanna Herwig, Eva Lausberg, Georg Hillebrand, Alexander E Volk, Ingo Kurth, Florian Kraft, Kerstin Kutsche
Complex structural variation and nonsense variant in trans cause VPS50 -related disorder. Journal of medical genetics (2024)
Tess Holling, Ibrahim M Abdelrazek, Ghada M Elhady, Marwa Abd Elmaksoud, Seung Woo Ryu, Ebtesam Abdalla, Kerstin Kutsche
A homozygous nonsense variant in the alternatively spliced VLDLR exon 4 causes a neurodevelopmental disorder without features of VLDLR cerebellar hypoplasia. Journal of human genetics (2024)
Tess Holling, Laura Brylka, Tasja Scholz, Tatjana Bierhals, Theresia Herget, Peter Meinecke, Thorsten Schinke, Ralf Oheim, Kerstin Kutsche
TMCO3, a Putative K + :Proton Antiporter at the Golgi Apparatus, Is Important for Longitudinal Growth in Mice and Humans. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research (2023)
Laura Hecher, Frederike L Harms, Jasmin Lisfeld, Malik Alawi, Jonas Denecke, Kerstin Kutsche
INPP4A-related genetic and phenotypic spectrum and functional relevance of subcellular targeting of INPP4A isoforms. Neurogenetics (2023)
Frederike L Harms, Deike Weiss, Jasmin Lisfeld, Malik Alawi, Kerstin Kutsche
A deep intronic variant in DNM1 in a patient with developmental and epileptic encephalopathy creates a splice acceptor site and affects only transcript variants including exon 10a. Neurogenetics (2023)
Tess Holling, Sheela Nampoothiri, Bedirhan Tarhan, Pauline E Schneeberger, Kollencheri Puthenveettil Vinayan, Dhanya Yesodharan, Arun Grace Roy, Periyasamy Radhakrishnan, Malik Alawi, Lindsay Rhodes, Katta Mohan Girisha, Peter B Kang, Kerstin Kutsche
Novel biallelic variants expand the SLC5A6-related phenotypic spectrum. European journal of human genetics : EJHG 30 (4) (2022)
Tess Holling, Jasmin Lisfeld, Jessika Johannsen, Jakob Matschke, Feizhi Song, Hermann Clemens Altmeppen, Kerstin Kutsche
Autosomal dominantly inherited myopathy likely caused by the TNNT1 variant p.(Asp65Ala). Human mutation 43 (9) (2022)
Ebtesam Abdalla, Malik Alawi, Peter Meinecke, Kerstin Kutsche, Frederike L Harms
Cardiofacioneurodevelopmental syndrome: Report of a novel patient and expansion of the phenotype. American journal of medical genetics. Part A 188 (8) (2022)
Shehrazade Dahimene, Leonie von Elsner, Tess Holling, Lauren S Mattas, Jess Pickard, Davor Lessel, Kjara S Pilch, Ivan Kadurin, Wendy S Pratt, Igor B Zhulin, Hongzheng Dai, Maja Hempel, Maura R Z Ruzhnikov, Kerstin Kutsche, Annette C Dolphin
Biallelic CACNA2D1 loss-of-function variants cause early-onset developmental epileptic encephalopathy. Brain : a journal of neurology 145 (8) (2022)
Christiane K Bauer, Tess Holling, Denise Horn, Mário Nôro Laço, Ebtesam Abdalla, Omneya Magdy Omar, Malik Alawi, Kerstin Kutsche
Clinically Relevant KCNQ1 Variants Causing KCNQ1-KCNE2 Gain-of-Function Affect the Ca 2+ Sensitivity of the Channel. International journal of molecular sciences 23 (17) (2022)
Tess Holling, Gandham S Bhavani, Leonie von Elsner, Hitesh Shah, Neethukrishna Kausthubham, Shaila S Bhattacharyya, Anju Shukla, Geert R Mortier, Thorsten Schinke, Tatyana Danyukova, Sandra Pohl, Kerstin Kutsche, Katta M Girisha
A homozygous hypomorphic BNIP1 variant causes an increase in autophagosomes and reduced autophagic flux and results in a spondylo-epiphyseal dysplasia. Human mutation 43 (5) (2022)
Karen W Gripp, Sarah F Smithson, Ingrid J Scurr, Júlia Baptista, Anirban Majumdar, Germaine Pierre, Maggie Williams, Lindsay B Henderson, Ingrid M Wentzensen, Heather McLaughlin, Lisette Leeuwen, Marleen E H Simon, Ellen van Binsbergen, Mary Beth P Dinulos, Julie D Kaplan, Anne McRae, Andrea Superti-Furga, Jean-Marc Good, Kerstin Kutsche
Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3-a subgroup of K+ channelopathies. European journal of human genetics : EJHG 29 (9) (2021)
Frederike L Harms, Padmini Parthasarathy, Dennis Zorndt, Malik Alawi, Sigrid Fuchs, Benjamin J Halliday, Colina McKeown, Hugo Sampaio, Natasha Radhakrishnan, Suresh K Radhakrishnan, Magali Gorce, Benjamin Navet, Alban Ziegler, Rani Sachdev, Stephen P Robertson, Sheela Nampoothiri, Kerstin Kutsche
Biallelic loss-of-function variants in TBC1D2B cause a neurodevelopmental disorder with seizures and gingival overgrowth. Human mutation 41 (9) (2020)
Pierre Costé de Bagneaux, Leonie von Elsner, Tatjana Bierhals, Marta Campiglio, Jessika Johannsen, Gerald J Obermair, Maja Hempel, Bernhard E Flucher, Kerstin Kutsche
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. PLoS genetics 16 (3) (2020)
Pauline E Schneeberger, Shalini S Nayak, Sigrid Fuchs, Kerstin Kutsche, Katta Mohan Girisha
Roberts syndrome in an Indian patient with humeroradial synostosis, congenital elbow contractures and a novel homozygous splice variant in ESCO2. American journal of medical genetics. Part A 182 (11) (2020)
Magdalena Danyel, Fanny Kortüm, Katarina Dathe, Kerstin Kutsche, Denise Horn
Autosomal dominant Robinow syndrome associated with a novel DVL3 splice mutation. American journal of medical genetics. Part A 176 (4) (2019)
Katja Kloth, Tatjana Bierhals, Jessika Johannsen, Frederike L Harms, Jane Juusola, Mark C Johnson, Dorothy K Grange, Kerstin Kutsche
Biallelic variants in SMAD6 are associated with a complex cardiovascular phenotype. Human genetics 138 (6) (2019)
Renata Voltolini Velho, Frederike L Harms, Tatyana Danyukova, Nataniel F Ludwig, Michael J Friez, Sara S Cathey, Mirella Filocamo, Barbara Tappino, Nilay Güneş, Beyhan Tüysüz, Karen L Tylee, Kathryn L Brammeier, Lesley Heptinstall, Esmee Oussoren, Ans T van der Ploeg, Christine Petersen, Sandra Alves, Gloria Durán Saavedra, Ida V Schwartz, Nicole Muschol, Kerstin Kutsche, Sandra Pohl
The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update on GNPTAB and GNPTG mutations. Human mutation 40 (7) (2019)
Katta Mohan Girisha, Leonie von Elsner, Kausthubham Neethukrishna, Mamta Muranjan, Anju Shukla, Gandham SriLakshmi Bhavani, Gen Nishimura, Kerstin Kutsche, Geert Mortier
The homozygous variant c.797G>A/p.(Cys266Tyr) in PISD is associated with a Spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function. Human mutation 40 (3) (2018)
F L Harms, S Nampoothiri, F Kortüm, J Thomas, V V Panicker, M Alawi, J Altmüller, D Yesodharan, Kerstin Kutsche
Coinheritance of biallelic SLURP1 and SLC39A4 mutations cause a severe genodermatosis with skin peeling and hair loss all over the body. The British journal of dermatology 179 (5) (2018)
Uta Meyer Zum Büschenfelde, Laura Isabel Brandenstein, Leonie von Elsner, Kristina Flato, Tess Holling, Martin Zenker, Georg Rosenberger, Kerstin Kutsche
RIT1 controls actin dynamics via complex formation with RAC1/CDC42 and PAK1. PLoS genetics 14 (5) (2018)
Frederike L Harms, Sheela Nampoothiri, Shams Anazi, Dhanya Yesodharan, Malik Alawi, Kerstin Kutsche, Fowzan Sami Alkuraya
Elsahy-Waters syndrome is caused by biallelic mutations in CDH11. American journal of medical genetics. Part A 176 (2) (2017)
Frederike L Harms, Malik Alawi, David J Amor, Tiong Y Tan, Goran Cuturilo, Christina Lissewski, Julia Brinkmann, Denny Schanze, Kerstin Kutsche, Martin Zenker
The novel RAF1 mutation p.(Gly361Ala) located outside the kinase domain of the CR3 region in two patients with Noonan syndrome, including one with a rare brain tumor. American journal of medical genetics. Part A 176 (2) (2017)