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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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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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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 -
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 -
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 -
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 -
The Clinical and Laboratory Profiles of a Deletional α2-Globin Gene Polyadenylation Signal Sequence (AATAAA > AATA--) [HBA2:c.*93_*94delAA]: The Malaysian Experience
Norafiza Mohd Yasin, Syahzuwan Hassan, Nur Aisyah Aziz, Faidatul Syazlin Abdul Hamid, Ezalia Esa, Ezzanie Suffya Zulkefli, +4 more
0citations -
The Clinical and Genetic Spectrum of 82 Patients With RAG Deficiency Including a c.256_257delAA Founder Variant in Slavic Countries2020 Frontiers in Immunology article Immunology and Microbiology Immunodeficiency and Autoimmune Disorders Open access
Svetlana O. Sharapova, Małgorzata Skomska-Pawliszak, Yulia A. Rodina, Beata Wolska‐Kuśnierz, Nel Dąbrowska-Leonik, Bożena Mikołuć, +46 more
20citations -
Primary Ovarian Failure in Addition to Classical Clinical Features of Coats Plus Syndrome in a Female Carrying 2 Truncating Variants of CTC12021 Hormone Research in Paediatrics article Medicine Telomeres, Telomerase, and Senescence Open access
Joel Riquelme, Sanami Takada, Tessa van Dijk, Merel W. Boogaard, Hermine A. van Duyvenvoorde, Ingrid Pico‐Knijnenburg, +4 more
10citations -
Generation of three human induced pluripotent stem cell lines, LUMCi024-A, LUMCi025-A, and LUMCi026-A, from two patients with combined oxidative phosphorylation deficiency 8 and a related control2021 Stem Cell Research article Biochemistry, Genetics and Molecular Biology Pluripotent Stem Cells Research Open access
Ruben W.J. van Helden, Matthew J. Birket, Christian M.A.H. Freund, Christaan H. Arendzen, Harald M. M. Mikkers, Valeria V. Orlova, +3 more
3citations -
Biallelic CRELD1 variants cause severe muscle weakness and infantile epilepsy2025 Brain Communications article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Manuela D’Alessandro, Daniel Bamborschke, Margret Helene Bülow, Özkan Özdemir, Hülya‐Sevcan Daimagüler, Verena Brümmer, +8 more
2citations -
Disease‐specific phenotypes in iPSC‐derived neural stem cells with POLG mutations2020 EMBO Molecular Medicine article Biochemistry, Genetics and Molecular Biology Mitochondrial Function and Pathology Open access
Kristina Xiao Liang, Cecilie Katrin Kristiansen, Sepideh Mostafavi, Guro Helén Vatne, Gina Alien Zantingh, Atefeh Kianian, +11 more
62citations -
Absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy in folliculin-interacting protein 1 deficiency2020 Blood article Immunology and Microbiology Immunodeficiency and Autoimmune Disorders Open access
Francesco Saettini, M. Cecilia Poli, Jaime E. Vengoechea, Sonia Bonanomi, Julio César Orellana, Grazia Fazio, +28 more
49citations