Generation of induced pluripotent stem cells (ARO-iPSC1-11) from a patient with autosomal recessive osteopetrosis harboring the c.212 + 1G > T mutation in SNX10 gene by Maojia Xu, Eva-lena Stattin, Mary Murphy, Frank Barry

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Symptoms and ECG changes precede sudden cardiac death in hypertrophic cardiomyopathy-A nationwide study among the young in Sweden. by Erik Börjesson, Bodil Svennblad, Aase Wisten, Mats Börjesson, Eva-Lena Stattin

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A progressive and complex clinical course in two family members with ERF-related craniosynostosis: a case report by Izabella Körberg, Daniel Nowinski, Marie-Louise Bondeson, Malin Melin, Lars Kölby, Eva-Lena Stattin

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Multi-Omic Investigations of a 17–19 Translocation Links <i>MINK1</i> Disruption to Autism, Epilepsy and Osteoporosis by Jesper Eisfeldt, Jakob Schuy, Eva-Lena Stattin, Malin Kvarnung, Anna Falk, Lars Feuk, Anna Lindstrand

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Expanding the phenotypic spectrum of osteogenesis imperfecta type V including heterotopic ossification of muscle origins and attachments by Pantelis Clewemar, Nils P. Hailer, Yasmin Hailer, Joakim Klar, Andreas Kindmark, Östen Ljunggren, Eva‐Lena Stattin

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Common founder effects of hereditary hemochromatosis, Wilson´s disease, the long QT syndrome and autosomal recessive deafness caused by two novel mutations in the WHRN and TMC1 gen... by K. Sigvard Olsson, Olof Wålinder, Ulf Jansson, Maria Wilbe, Marie-Louise Bondeson, Eva-Lena Stattin, Ruma Raha-Chowdhury, Roger Williams

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Long-read sequencing and optical mapping generates near T2T assemblies that resolves a centromeric translocation by Esmee ten Berk de Boer, Adam Ameur, Ignas Bunikis, Marlene Ek, Eva-Lena Stattin, Lars Feuk, Jesper Eisfeldt, Anna Lindstrand

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Case Report: Bilateral Epiphysiodesis Due to Extreme Tall Stature in a Girl With a De Novo DNMT3A Variant Associated With Tatton-Brown-Rahman Syndrome by Otto Lennartsson, Otto Lennartsson, Maria Lodefalk, Maria Lodefalk, Henrik Wehtje, Eva-Lena Stattin, Lars Sävendahl, Ola Nilsson, Ola Nilsson, Ola Nilsson

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Palmoplantar keratoderma and digital clubbing in 2 sisters with hypertrophic osteoarthropathy by Daniel Eriksson, MD, PhD, David Gyll, MD, Marie Virtanen, MD, Niklas Dahl, MD, PhD, Joakim Klar, PhD, Eva-Lena Stattin, MD, PhD

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SNX10 gene mutation leading to osteopetrosis with dysfunctional osteoclasts by Eva-Lena Stattin, Petra Henning, Joakim Klar, Emma McDermott, Christina Stecksen-Blicks, Per-Erik Sandström, Therese G. Kellgren, Patrik Rydén, Göran Hallmans, Torsten Lönnerholm, Adam Ameur, Miep H. Helfrich, Fraser P. Coxon, Niklas Dahl, Johan Wikström, Ulf H. Lerner

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