Paweł Gawliński

Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis

Pamela Magini, Daphne J. Smits, Laura Vandervore et al. · The American Journal of Human Genetics · 2019 · 85 citations · Full text

Life Sciences, Developmental Biology, Human Development +11

Comprehensive genomic analysis of patients with disorders of cerebral cortical development

Wojciech Wiszniewski, Paweł Gawliński, Tomasz Gambin et al. · European Journal of Human Genetics · 2018 · 43 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease

Daniel G. Calame, Tianyu Guo, Chen Wang et al. · The American Journal of Human Genetics · 2023 · 42 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9

Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders

Tadahiro Mitani, Jaya Punetha, İbrahim Akalın et al. · The American Journal of Human Genetics · 2019 · 36 citations · Full text

Life Sciences, Genetics, Molecular Genetics +7

Phenotype expansion and development in Kosaki overgrowth syndrome

Paweł Gawliński, Magdalena Pelc, Elżbieta Ciara et al. · Clinical Genetics · 2017 · 28 citations

Medicine, Molecular Genetics, Pathobiology +14