Atypical COL3A1 variants (glutamic acid to lysine) cause vascular Ehlers–Danlos syndrome with a consistent phenotype of tissue fragility and skin hyperextensibility von Ghali, Neeti, Baker, Duncan, Brady, Angela F., Burrows, Nigel, Cervi, Elena, Cilliers, Deirdre, Frank, Michael, Germain, Dominique P., Hulmes, David J.S., Jacquemont, Marie-line, Kannu, Peter, Lefroy, Henrietta, Legrand, Anne, Pope, F. Michael, Robertson, Lisa, Vandersteen, Anthony, von Klemperer, Kate, Warburton, Renarta, Whiteford, Margo, van Dijk, Fleur S.

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PAPSS2‐related brachyolmia: Clinical and radiological phenotype in 18 new cases von Bownass, Lucy, Abbs, Stephen, Armstrong, Ruth, Baujat, Genevieve, Behzadi, Gry, Berentsen, Ragnhild Drage, Burren, Christine, Calder, Alistair, Cormier‐Daire, Valérie, Newbury‐Ecob, Ruth, Foulds, Nicola, Juliusson, Petur B., Kant, Sarina G., Lefroy, Henrietta, Mehta, Sarju G., Merckoll, Else, Michot, Caroline, Monsell, Fergal, Offiah, Amaka C., Richards, Allan, Rosendahl, Karen, Rustad, Cecilie F., Shears, Deborah, Tveten, Kristian, Wellesley, Diana, Wordsworth, Paul, Smithson, Sarah

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Genetic testing in Neurology von Lefroy, Henrietta, Harrison, Victoria, Németh, Andrea H.

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1q24 deletion syndrome. Two cases and new insights into genotype‐phenotype correlations von Lefroy, Henrietta, Fox, Olivia, Javaid, Muhammad K, Makaya, Taffy, Shears, Deborah J.

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SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile von Al-Jawahiri, Reem, Foroutan, Aidin, Kerkhof, Jennifer, McConkey, Haley, Levy, Michael, Haghshenas, Sadegheh, Rooney, Kathleen, Turner, Jasmin, Shears, Debbie, Holder, Muriel, Lefroy, Henrietta, Castle, Bruce, Reis, Linda M, Semina, V. Elena, Lachlan, Katherine, Chandler, Kate, Wright, Thomas, Clayton-Smith, Jill, Hug, Franziska Phan, Pitteloud, Nelly, Bartoloni, Lucia, Hoffjan, Sabine, Park, Soo-Mi, Thankamony, Ajay, Lees, Melissa, Wakeling, Emma, Naik, Swati, Hanker, Britta, Girisha, Katta M, Agolini, Emanuele, Giuseppe, Zampino, Alban, Ziegler, Tessarech, Marine, Keren, Ziegler Boris, Afenjar, Alexandra, Zweier, Christiane, Reis, Andre, Smol, Thomas, Tsurusaki, Yoshinori, Nobuhiko, Okamoto, Sekiguchi, Futoshi, Tsuchida, Naomi, Matsumoto, Naomichi, Kou, Ikuyo, Yonezawa, Yoshiro, Ikegawa, Shiro, Callewaert, Bert, Freeth, Megan, Kleinendorst, Lotte, Donaldson, Alan, Alders, Marielle, De Paepe, Anne, Sadikovic, Bekim, McNeill, Alisdair

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Genetic testing in neurology von Lefroy, Henrietta, Harrison, Victoria, Németh, Andrea H

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A novel technique for teaching the brachial plexus von Lefroy, Henrietta, Burdon-Bailey, Victoria, Bhangu, Aneel, Abrahams, Peter

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