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Dissecting Normal and Abnormal Human Kidney Development Using Multiomics2025 Journal of the American Society of Nephrology review Biochemistry, Genetics and Molecular Biology Renal and related cancers Open access
Luna S. Klomp, Lampros Mavrommatis, Fanny Oliveira Arcolino, Hildo C. Lantermans, Elena N. Levtchenko, Christoph Kuppe, +1 more
1citations -
Oligogenic analysis across broad phenotypes of 46,XY differences in sex development associated with NR5A1/SF-1 variants: findings from the international SF1next study2025 EBioMedicine article Biochemistry, Genetics and Molecular Biology Sexual Differentiation and Disorders Open access
Chrysanthi Kouri, Idoia Martinez de la Piscina, Rawda Naamneh Elzenaty, Grit Sommer, Kay‐Sara Sauter, Christa E. Flück, +66 more
10citations -
Amyloidogenicity assessment of transthyretin gene variants2022 Annals of Clinical and Translational Neurology article Biochemistry, Genetics and Molecular Biology Amyloidosis: Diagnosis, Treatment, Outcomes Open access
Nicolai B. Grether, Felix Napravnik, Thomas Imhof, Reinhold Paul LINKE, Jan Hinrich Bräsen, Jessica Schmitz, +6 more
4citations -
Association of bronchial steroid inducible methylation quantitative trait loci with asthma and chronic obstructive pulmonary disease treatment response2022 Clinical and Translational Allergy article Medicine Asthma and respiratory diseases Open access
Elise M. A. Slob, Alen Faiz, Jos van Nijnatten, Susanne J. H. Vijverberg, Cristina Longo, Merve Kutlu, +29 more
1citations -
The Effects of Repetitive Use and Pathological Remodeling on Channelrhodopsin Function in Cardiomyocytes2021 Frontiers in Physiology article Neuroscience Photoreceptor and optogenetics research Open access
Balázs Ördög, Alexander S Teplenin, Tim De Coster, Cindy I. Bart, Sven O. Dekker, Juan Zhang, +3 more
9citations -
Loss-of-function variants in the KCNQ5 gene are associated with genetic generalized epilepsies2021 medRxiv preprint Biochemistry, Genetics and Molecular Biology Ion channel regulation and function Open access
Johanna Krüger, Julian Schubert, Josua Kegele, Audrey Labalme, Miaomiao Mao, Jacqueline Heighway, +15 more
3citations -
Clinical and genetic characteristics of a large international cohort of individuals with rare NR5A1/SF-1 variants of sex development2024 EBioMedicine article Biochemistry, Genetics and Molecular Biology Sexual Differentiation and Disorders Open access
Chrysanthi Kouri, Grit Sommer, Idoia Martinez de la Piscina, Rawda Naamneh Elzenaty, Lloyd J. W. Tack, Martine Cools, +67 more
42citations -
Modulating effects of FGF12 variants on Na V 1.2 and Na V 1.6 associated with Developmental and Epileptic Encephalopathy and Autism Spectrum Disorder2021 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Ion channel regulation and function Open access
Simone Seiffert, Manuela Pendziwiat, Tatjana Bierhals, Himanshu Goel, Niklas Schwarz, Amelie T. van der Ven, +5 more
2citations -
Large-scale integration of functional assay data for the resolution of germline BRCA1 and BRCA2 variants of uncertain significance2026 The American Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Paulo C.M. Lyra, Samuel Brito, Michael J. Parsons, Chunling Hu, Thales C. Nepomuceno, Nam Phuong Nguyen, +31 more
0citations -
The Galician MultiPic: a picture dataset that captures lexical variation2025 Frontiers in Psychology article Psychology Categorization, perception, and language Open access
María Álvarez de la Granja, M. Carmen Parafita Couto, Ana Rita Sá-Leite, Isabel Fraga, Jon Andoni Duñabeitia, Christos Pliatsikas, +1 more
1citations -
Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome2022 Genome Medicine article Biochemistry, Genetics and Molecular Biology Ion channel regulation and function Open access
Margot A. Cousin, Emma L. Veale, Nikita R. Dsouza, Swarnendu Tripathi, Robyn G. Holden, Maria Arélin, +64 more
25citations -
Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort2022 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Pleuntje J. van der Sluijs, Marieke Joosten, Caroline Alby, Tania Attié‐Bitach, Kelly L. Gilmore, Christèle Dubourg, +48 more
22citations -
Epigenotype–genotype–phenotype correlations in SETD1A and SETD2 chromatin disorders2023 Human Molecular Genetics article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Sunwoo Liv Lee, Lara A. Menzies, Eleanor Hay, Eguzkine Ochoa, France Docquier, Fay Rodger, +16 more
18citations -
Identifying TMEM127-deficient pheochromocytomas/paragangliomas via RET overexpression by immunohistochemistry2026 The Journal of Clinical Endocrinology & Metabolism article Medicine Adrenal and Paraganglionic Tumors
Cynthia María Estrada-Zúñiga, Rui Liang, Bethany N. Landry, Andrea Alvarez, Hector Gonzalez‐Cantu, Viviane Nascimento Da Conceicao, +13 more
1citations -
Alternative therapeutic targets in patients treated with immune checkpoint inhibitors for advanced urothelial cancer: Real-world data of German comprehensive cancer centers (ATTICI biomarker study).2026 Journal of Clinical Oncology article Medicine Bladder and Urothelial Cancer Treatments Open access
Günter Niegisch, June Moeller, Michael Rose, Lancelot Seillier, Nadina Ortiz-Bruechle, Danny David Jonigk, +3 more
0citations