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Characterization of 35 Novel NR5A1/SF-1 Variants Identified in Individuals With Atypical Sexual Development: The SF1next Study2024 The Journal of Clinical Endocrinology & Metabolism article Biochemistry, Genetics and Molecular Biology Sexual Differentiation and Disorders Open access
Rawda Naamneh Elzenaty, Idoia Martinez de la Piscina, Chrysanthi Kouri, Kay‐Sara Sauter, Grit Sommer, Luis Antonio Castaño, +1 more
10citations -
Characterization of the Cystic Phenotype Associated with Monoallelic ALG8 and ALG9 Pathogenic Variants2025 Journal of the American Society of Nephrology article Biochemistry, Genetics and Molecular Biology Genetic and Kidney Cyst Diseases Open access
Tabinda Jawaid, Doaa E. Elbarougy, Sravanthi Lavu, Guillaume Buia, Sarah R. Senum, Eric Gregory Olinger, +34 more
18citations -
Targeted VNTR long read sequencing resolves a diagnostic bottleneck in ADTKD and detects de novo ADTKD-MUC12026 Kidney International article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Andrea Wenzel, Björn Reusch, Karl Xaver Knaup, Nikola Zagorec, Margareta Fištrek Prlić, Kerstin Becker, +8 more
1citations -
Prevalence of Monogenic Bone Disorders in a Dutch Cohort of Atypical Femur Fracture Patients2020 Journal of Bone and Mineral Research article Medicine Bone health and osteoporosis research Open access
Wei Zhong Zhou, Jeroen van Rooij, Denise M van de Laarschot, Zografia Zervou, Hennie T. Brüggenwirth, Natasha M. Appelman‐Dijkstra, +4 more
19citations -
Episignature Mapping of TRIP12 Provides Functional Insight into Clark–Baraitser Syndrome2022 International Journal of Molecular Sciences article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Liselot van der Laan, Kathleen Rooney, Marielle M. Alders, Raissa Relator, Haley McConkey, Jennifer Kerkhof, +29 more
15citations -
Hypomethylation of the MEG8:Int2-DMR in patients with pathogenic PLAG1 variants suggests new role of the chr14q32 imprinting cluster in Silver-Russell syndrome2025 Clinical Epigenetics article Biochemistry, Genetics and Molecular Biology Genetic Syndromes and Imprinting Open access
Emilia D’Angelo, Laura Pignata, Francesco Cecere, Alessandro Vimercati, Maria Vittoria Cubellis, Abu Saadat, +9 more
2citations -
Infantile-Onset Glutaric Acidemia Type I with Mild Hepatopathy: Clinical, Biochemical, and Molecular Characterization of an Iranian Pediatric Cohort2026 Genes article Biochemistry, Genetics and Molecular Biology Metabolism and Genetic Disorders Open access
Zahra Beyzaei, Bita Geramizadeh, Seyed Mohsen Dehghani, Soroor Inaloo, Ralf Weiskirchen
0citations -
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 -
De novo SETD5 missense variants in individuals with MRD23 cluster within the protein’s SET domain2026 Human Genetics article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Daphna Marom, Yvonne Hilhorst‐Hofstee, Sarina G. Kant, Mira Kharbanda, Fiona Osborne, Lisa Robertson, +10 more
0citations -
The detection of a strong episignature for Chung–Jansen syndrome, partially overlapping with Börjeson–Forssman–Lehmann and White–Kernohan syndromes2024 Human Genetics article Biochemistry, Genetics and Molecular Biology Epigenetics and DNA Methylation Open access
Niels Vos, Sadegheh Haghshenas, Liselot van der Laan, Perle K. M. Russel, Kathleen Rooney, Michael A. Levy, +53 more
12citations -
Large Deletion in the Factor VIII Gene Is a Predictor of Immune Tolerance Induction Failure in People with Severe and Moderately-Severe Hemophilia a and High-Responding Inhibitors
Luciana W. Zuccherato, Renan Pedra de Souza, Ricardo Mesquita Camelo, Maíse Moreira Dias, Marcio P. Santana, Letícia Lemos Jardim, +15 more
0citations -
Molecular Genetic Screening in Patients With ACE Inhibitor/Angiotensin Receptor Blocker-Induced Angioedema to Explore the Role of Hereditary Angioedema Genes2022 Frontiers in Genetics article Medicine Coagulation, Bradykinin, Polyphosphates, and Angioedema Open access
Carina M. Mathey, Carlo Maj, Annika B. Scheer, Julia Fazaal, Bettina Wedi, Dorothea Wieczorek, +25 more
13citations -
Genome sequencing in families with congenital limb malformations2021 Human Genetics article Biochemistry, Genetics and Molecular Biology Congenital limb and hand anomalies Open access
Jonas Elsner, Martin A. Mensah, Manuel Holtgrewe, Jakob Hertzberg, Stefania Bigoni, Marie Coutelier, +24 more
26citations