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Identification and functional analysis of two new de novo KCNMA1 variants associated with Liang–Wang syndrome2022 Acta Physiologica article Biochemistry, Genetics and Molecular Biology Ion channel regulation and function Open access
Lina Liang, Huihui Liu, Deborah Bartholdi, Arie van Haeringen, Alberto Fernández‐Jaén, Hongbo Xiong, +4 more
17citations -
Clinical Characteristics and Response to Growth Hormone Treatment in 27 Children With Heterozygous NPR2 Variants: Real-World Data2025 The Journal of Clinical Endocrinology & Metabolism article Medicine Growth Hormone and Insulin-like Growth Factors Open access
Judith S. Renes, Ardine Reedijk, Anita Hokken-Koelega, Yvonne M. C. Hendriks, Boudewijn Bakker, Annemieke M. Boot, +6 more
3citations -
Biallelic Germline Inactivation of HROB Causes Primary Gonadal Insufficiency and is Potentially Associated with Colonic Polyposis Predisposition2026 American Journal of Medical Genetics Part A article Medicine Genetic factors in colorectal cancer Open access
Noah C. Helderman, Carli M.J. Tops, Jelmer Legebeke, Marcos Díaz‐Gay, Diantha Terlouw, Lisa E.E.L.O. Lashley, +9 more
0citations -
Human induced pluripotent stem cell ‐derived cortical neurons from monozygotic twins with the Gα o1 K278del mutation reveal disease mechanisms relevant to GNAO1 ‐related encephalopathy2026 Epilepsia article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Maria Sáez González, Kes Kloosterhuis, Jeroen P. Vreijling, Hailiang Mei, Tom P. Hellings, Davide Pirolli, +7 more
0citations -
The coding microsatellite mutation profile of PMS2-deficient colorectal cancer2021 Experimental and Molecular Pathology article Medicine Genetic factors in colorectal cancer Open access
Sanne W. ten Broeke, Alexej Ballhausen, Aysel Ahadova, Manon Suerink, Lena Bohaumilitzky, Florian Seidler, +8 more
20citations -
NR5A1/SF-1 Collaborates with Inhibin α and the Androgen Receptor2024 International Journal of Molecular Sciences article Biochemistry, Genetics and Molecular Biology Sexual Differentiation and Disorders Open access
Rawda Naamneh Elzenaty, Chrysanthi Kouri, Idoia Martinez de la Piscina, Kay‐Sara Sauter, Francisca Moreno, Núria Camats, +1 more
3citations -
Patient-Derived Inner Ear Organoids as a Disease Modeling and Therapy Validation Platform For Hereditary Inner Ear Disorders2026 bioRxiv (Cold Spring Harbor Laboratory) preprint Neuroscience Hearing, Cochlea, Tinnitus, Genetics Open access
Esther Fousert, Winnie M. C. van den Boogaard, Amy W. A. Lucassen, Shantha D. Udayappan, Jaap Oostrik, Peter Paul G. van Benthem, +5 more
0citations -
Consensus guidelines for eligibility assessment of pathogenic variants to antisense oligonucleotide treatments2024 medRxiv preprint Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
David Cheerie, Margaret M. Meserve, Danique Beijer, Charu Kaiwar, Logan Newton, Ana Lisa Taylor Tavares, +31 more
5citations -
Biallelic variants in PIKFYVE cause a hypomyelinating leukodystrophy with endolysosomal dysfunction2026 Brain article Biochemistry, Genetics and Molecular Biology Glycogen Storage Diseases and Myoclonus Open access
Luisa Averdunk, Martin Groß, Anna B. Hamacher, Sandra C. Donkervoort, Diran Agaid Herebian, Shekeeb S. Mohammad, +23 more
0citations -
Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome2021 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Kristina Lanko, Francisco J. Guzmán‐Vega, Adam Jackson, Reshmi Ramakrishnan, Kelly J. Cardona‐Londoño, Karla A. Peña‐Guerra, +90 more
35citations -
Retinal Dystrophies Associated With Peripherin-2: Genetic Spectrum and Novel Clinical Observations in 241 Patients2024 Investigative Ophthalmology & Visual Science article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Rachael C. Heath Jeffery, Jennifer A. Thompson, Johnny Lo, Enid S. Chelva, Sean Armstrong, Jose S. Pulido, +36 more
28citations -
Biallelic POC1A variants cause syndromic severe insulin resistance with muscle cramps2022 European Journal of Endocrinology article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Verónica Mericq G, Isabel Huang‐Doran, Dhekra Alnaqeb, Javiera Basaure, Claudia Castiglioni T, Christiaan de Bruin, +7 more
8citations -
Identifying TMEM127-deficient pheochromocytomas/paragangliomas via RET overexpression by immunohistochemistry2026 The Journal of Clinical Endocrinology & Metabolism article Medicine Adrenal and Paraganglionic Tumors Open access
Cynthia María Estrada-Zúñiga, Rui Liang, Bethany N. Landry, Andrea Alvarez, Hector Gonzalez‐Cantu, Viviane Nascimento Da Conceicao, +13 more
1citations