Papers matching “biallelic pathogenic variants” 53
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Biallelic pathogenic hydroxymethylbilane synthase gene variants of a neurodegenerative disorder with progressive cystic leukoencephalopathy: a case report2026 Figshare other Biochemistry, Genetics and Molecular Biology Porphyrin Metabolism and Disorders Open access
Gabriel M. Schacht, Miriam Elbracht, Anna‐Elisabeth Minder, Thomas Stauch, Arzu Stoppe, Eva Lausberg, +1 more
0citations -
Biallelic pathogenic hydroxymethylbilane synthase gene variants of a neurodegenerative disorder with progressive cystic leukoencephalopathy: a case report2026 Figshare other Biochemistry, Genetics and Molecular Biology Porphyrin Metabolism and Disorders Open access
Gabriel M. Schacht, Miriam Elbracht, Anna-Elisabeth Minder, Thomas Stauch, Arzu Stoppe, Eva Lausberg, +1 more
0citations -
Biallelic pathogenic hydroxymethylbilane synthase gene variants of a neurodegenerative disorder with progressive cystic leukoencephalopathy: a case report2026 Journal of Medical Case Reports article Biochemistry, Genetics and Molecular Biology Porphyrin Metabolism and Disorders Open access
Gabriel M. Schacht, Anna‐Elisabeth Minder, Thomas Stauch, Arzu Stoppe, Eva Lausberg, Martin Häusler
0citations -
Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities2022 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Elisa Calì, Mohnish Suri, Marcello Scala, Matteo Paolo Ferla, Shahryar Alavi, Eissa Faqeih, +60 more
9citations -
The heterogeneous cancer phenotype of individuals with biallelic germline pathogenic variants in CHEK22024 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Snežana Hinić, Cezary Cybulski, Rachel S. van der Post, Janet R. Vos, Janneke H. M. Schuurs-Hoeijmakers, Fulvia Brugnoletti, +23 more
15citations -
Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia
Daniel G. Calame, Isabella Herman, Reza Maroofian, Aren E. Marshall, Karina Carvalho Donis, Jawid M. Fatih, +58 more
9citations -
Additional file 1 of Biallelic pathogenic hydroxymethylbilane synthase gene variants of a neurodegenerative disorder with progressive cystic leukoencephalopathy: a case report2026 Figshare article Biochemistry, Genetics and Molecular Biology Metabolism and Genetic Disorders Open access
Gabriel M. Schacht, Miriam Elbracht, Anna-Elisabeth Minder, Thomas Stauch, Arzu Stoppe, Eva Lausberg, +1 more
0citations -
Additional file 1 of Biallelic pathogenic hydroxymethylbilane synthase gene variants of a neurodegenerative disorder with progressive cystic leukoencephalopathy: a case report2026 Figshare article Biochemistry, Genetics and Molecular Biology Metabolism and Genetic Disorders Open access
Gabriel M. Schacht, Miriam Elbracht, Anna‐Elisabeth Minder, Thomas Stauch, Arzu Stoppe, Eva Lausberg, +1 more
0citations -
Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity2023 Genome Medicine article Biochemistry, Genetics and Molecular Biology Metabolism and Genetic Disorders Open access
Sheng‐Jia Lin, Barbara Vona, Tracy Lau, Kevin Huang, Maha Saad Zaki, Huda Shujaa Aldeen, +31 more
14citations -
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 -
Deciphering DST -associated disorders: biallelic variants affecting DST-b cause a congenital myopathy2025 Brain article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access
Maureen Jacob, Heike Kölbel, Philip Harrer, Robert Kopajtich, Pinki Munot, Melanie T. Achleitner, +46 more
3citations -
Clinical and molecular features of 66 patients with musculocontractural Ehlers−Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14)2021 Journal of Medical Genetics article Biochemistry, Genetics and Molecular Biology Connective tissue disorders research Open access
Mari Minatogawa, Ai Unzaki, Hiroko Morisaki, Delfien Syx, Tohru Sonoda, Andreas Janecke, +34 more
43citations -
Fumarase Deficiency: A Case With a New Pathogenic Mutation and a Review of the Literature2020 Journal of Child Neurology article Biochemistry, Genetics and Molecular Biology Metabolism and Genetic Disorders Open access
Marieke G. Peetsold, Susan M. I. Goorden, Martijn H. Breuning, Monique Williams, Jaap Adriaan Bakker, Ed H. Jacobs, +2 more
14citations -
Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies2026 Nature Genetics article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Elsa Leitão, Amandine Santini, Benjamin Cogné, Miriam Essid, Maria Athanasiadou, Christy W. LaFlamme, +94 more
7citations -
Stargardt disease-associated missense and synonymous ABCA4 variants result in aberrant splicing2023 Human Molecular Genetics article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Melita Kaltak, Zelia Corradi, Rob W.J. Collin, Jim Swildens, Frans P.M. Cremers
10citations -
Complex structural variation and nonsense variant in trans cause VPS50-related disorder2024 Journal of Medical Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases
Laura Hecher, Esther Gorski-Alberts, Matthias Begemann, J. Herwig, Eva Lausberg, Georg Hillebrand, +4 more
5citations -
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