Dentici, Maria Lisa Alesi, Viola Quinodoz, Mathieu Robens, Barbara Guerin, Andrea Lebon, Sébastien Poduri, Annapurna Travaglini, Lorena Graziola, Federica Afenjar, Alexandra
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Published in
Journal of medical genetics
Next-generation sequencing, combined with international pooling of cases, has impressively enhanced the discovery of genes responsible for Mendelian neurodevelopmental disorders, particularly in individuals affected by clinically undiagnosed diseases. To date, biallelic missense variants in ZNF526 gene, encoding a Krüppel-type zinc-finger protein, ...
Shao, Kang Wang, Ruixia Qu, Shoufang Zhang, Wenxin Yu, Ting Cao, Boyang Dai, Pingping Zhu, Anna Zhang, Jianguang Wang, Juan
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Published in
Journal of medical genetics
High-quality interpretation of BRCA1/2 variants plays a critical role in the clinical practice of precision medicine. However, a comprehensive system to evaluate the quality and accuracy of variant interpretation has yet to be established. This study investigates the performance of an interpretation system in evaluating the capacities of BRCA1/2 in...
Brock, Stefanie Vanderhasselt, Tim Vermaning, Sietske Keymolen, Kathelijn Régal, Luc Romaniello, Romina Wieczorek, Dagmar Storm, Tim Matthias Schaeferhoff, Karin Hehr, Ute
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Published in
Journal of medical genetics
Variants in genes belonging to the tubulin superfamily account for a heterogeneous spectrum of brain malformations referred to as tubulinopathies. Variants in TUBB2A have been reported in 10 patients with a broad spectrum of brain imaging features, ranging from a normal cortex to polymicrogyria, while one patient has been reported with progressive ...
Sadler, Brooke Haller, Gabe Antunes, Lilian Nikolov, Momchil Amarillo, Ina Coe, Bradley Dobbs, Matthew B Gurnett, Christina A
Published in
Journal of medical genetics
Congenital clubfoot is a common birth defect that affects at least 0.1% of all births. Nearly 25% cases are familial and the remaining are sporadic in inheritance. Copy number variants (CNVs) involving transcriptional regulators of limb development, including PITX1 and TBX4, have previously been shown to cause familial clubfoot, but much of the her...
Clarke, Jessica M Alikian, Mary Xiao, Sihao Kasperaviciute, Dalia Thomas, Ellen Turbin, Isobel Olupona, Kike Cifra, Elna Curetean, Emanuel Ferguson, Teena
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Published in
Journal of medical genetics
Nowak, Jan Krzysztof Kałużny, Łukasz Suda, Wojciech Bukowska-Posadzy, Anna Adams, Alex Grulkowski, Ireneusz Kocięcki, Jarosław Walkowiak, Jarosław
Published in
Journal of medical genetics
Lu, Ye Gentiluomo, Manuel Lorenzo-Bermejo, Justo Morelli, Luca Obazee, Ofure Campa, Daniele Canzian, Federico
Published in
Journal of medical genetics
Observational studies have reported multiple risk factors for pancreatic ductal adenocarcinoma (PDAC). Some are well established, like tobacco smoking, alcohol drinking, obesity and type 2 diabetes, whereas some others are putative, such as allergy and dietary factors. Identifying causal risk factors can help establishing those that can be targeted...
Ye, Xin Cynthia Roslin, Nicole M Paterson, Andrew D Lyons, Christopher J Pegado, Victor Richmond, Phillip Shyr, Casper Fornes, Oriol Han, XiaoHua Higginson, Michelle
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Published in
Journal of medical genetics
Strabismus is a common condition, affecting 1%-4% of individuals. Isolated strabismus has been studied in families with Mendelian inheritance patterns. Despite the identification of multiple loci via linkage analyses, no specific genes have been identified from these studies. The current study is based on a seven-generation family with isolated str...
Pennisi, Alessandra Rötig, Agnès Roux, Charles-Joris Lévy, Raphaël Henneke, Marco Gärtner, Jutta Teke Kisa, Pelin Sarioglu, Fatma Ceren Yiş, Uluç Konczal, Laura L
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Published in
Journal of medical genetics
Biallelic variants in PNPT1 cause a mitochondrial disease of variable severity. PNPT1 (polynucleotide phosphorylase) is a mitochondrial protein involved in RNA processing where it has a dual role in the import of small RNAs into mitochondria and in preventing the formation and release of mitochondrial double-stranded RNA into the cytoplasm. This, i...
Chad, Lauren Dawson, Angelika J Goh, Elaine Suk-Ying
Published in
Journal of medical genetics
The COVID-19 pandemic has disrupted the provision of genetic care in Canada. With the public health effort to flatten the curve, many clinics have moved to virtual care for select populations of patients while triaging and postponing others. As genetic services are asked to gradually resume, a roadmap is needed to ensure clinical care decisions for...
