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Compound heterozygosity of mutations located in the first and third β-propeller domain of LRP4 causes sclerosteosis in a Spanish patient2020 Bone Reports article Biochemistry, Genetics and Molecular Biology Dermatological and Skeletal Disorders Open access
Yentl Huybrechts, Ellen Steenackers, Neveen A. T. Hamdy, Geert R. Mortier, Guillermo Martínez, Milagros Sierra Bracamonte, +3 more
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ACMG / AMP ‐Based Variant Classification of a Novel HBA2 Variant ( HBA2 : C.297del, Hb Taiping) in Compound Heterozygosity With Hb Adana ( HBA2 :C. 179G >A) Causing Non‐Deletional Hb H Disease2026 International Journal of Laboratory Hematology article Medicine Hemoglobinopathies and Related Disorders Open access
Norafiza Mohd Yasin, Suguna Somasundram, Syahzuwan Hassan, Nur Aisyah Aziz, Faidatul Syazlin Abdul Hamid, Ezzanie Suffya Zulkefli, +9 more
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Identification of Compound Heterozygous Variants in LRP4 Demonstrates That a Pathogenic Variant outside the Third β-Propeller Domain Can Cause Sclerosteosis2021 Genes article Biochemistry, Genetics and Molecular Biology Dermatological and Skeletal Disorders Open access
Yentl Huybrechts, Eveline Boudin, Gretl Hendrickx, Ellen Steenackers, Neveen A. T. Hamdy, Geert R. Mortier, +4 more
9citations -
The Potential Effect of Nav1.8 in Autism Spectrum Disorder: Evidence From a Congenital Case With Compound Heterozygous SCN10A Mutations2021 Frontiers in Molecular Neuroscience article Biochemistry, Genetics and Molecular Biology Ion channel regulation and function Open access
Björn Heinrichs, Baowen Liu, Jin Zhang, Jannis Meents, Kim Huyen Trang Le, Andelain Erickson, +10 more
4citations -
Collagen VI-Related Myopathy Caused by Compound Heterozygous Mutations of COL6A3 in a Consanguineous Kurdish Family2021 Journal of Clinical Neuromuscular Disease article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access
Violeta Mihaylova, Fabian Chablais, Juliane Bremer, Roman Guggenberger, Elisabeth Jane Rushing, Tobias Bethge, +2 more
3citations -
CRB1-associated retinal dystrophies in a Belgian cohort: genetic characteristics and long-term clinical follow-up2021 British Journal of Ophthalmology article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Mays Talib, Caroline Van Cauwenbergh, Julie De Zaeytijd, David Van Wynsberghe, Camiel J. F. Boon, Bart Peter Leroy
32citations -
Clinical Phenotype and Course of PDE6A -Associated Retinitis Pigmentosa Disease, Characterized in Preparation for a Gene Supplementation Trial2020 JAMA Ophthalmology article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Laura Kuehlewein, Ditta Zobor, Sten Andréasson, Carmen Ayuso, Sandro Banfi, Béatrice Bocquet, +19 more
20citations -
BICC1 Interacts with PKD1 and PKD2 to Drive Cystogenesis in ADPKD2024 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Genetic and Kidney Cyst Diseases Open access
Uyen Tran, Andrew J. Streets, Devon Smith, Annemarie Kirschfink, Lahoucine Izem, Jessie M Hassey, +9 more
3citations -
Phenotypic spectrum of variants in the FIG4 gene: variants associated with Charcot-Marie-Tooth 4J and parkinsonism2025 European Journal of Medical Genetics article Neuroscience Hereditary Neurological Disorders Open access
Barbora Lauerová, Radim Mazanec, Katja Eggermann, Dana Šafka Brožková, Annette Lischka, Pavel Seeman, +2 more
2citations -
Two new cases of KYNU deficiency: Further delineation of the phenotypic and biochemical spectrum and exploration of treatment options2025 Molecular Genetics and Metabolism article Biochemistry, Genetics and Molecular Biology Metabolism and Genetic Disorders Open access
Susan M. I. Goorden, Désirée Y. van Haaften–Visser, Maria M. Trętowicz, Ramon Bonte, Elly Bogaerts, Sandrien Vrieswijk, +9 more
2citations -
Data from: BICC1 interacts with PKD1 and PKD2 to drive cystogenesis in ADPKD2026 DRYAD dataset Biochemistry, Genetics and Molecular Biology Genetic and Kidney Cyst Diseases Open access
Oliver Wessely, Uyen Tran, Andrew J. Streets, Devon Smith, Annemarie Kirschfink, Lahoucine Izem, +8 more
1citations -
Expanding the phenotypic spectrum of COL6-related diseases: Motor neuropathy-like and neuromyopathy associated with COL6A3 c.7447A>G2026 Journal of Neuromuscular Diseases article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access
Rocío N. Villar‐Quiles, Aileen Reghan Foley, Corinne Métay, Rotem Orbach, Sandra C. Donkervoort, Beatrice Labella, +22 more
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Von Willebrand factor propeptide and pathophysiological mechanisms in European and Iranian patients with type 3 von Willebrand disease enrolled in the 3WINTERS‐IPS study2022 Journal of Thrombosis and Haemostasis article Medicine Platelet Disorders and Treatments Open access
Maria Teresa Pagliari, Frits Richard Rosendaal, Minoo Ahmadinejad, Zahra Badiee, Mohammad Reza Baghaipour, Luciano Baronciani, +26 more
8citations