Growth parameters in children with achondroplasia: A 7-year, prospective, multinational, observational study.
Savarirayan, R; Irving, M; Harmatz, P; Delgado, B; Wilcox, WR; Philips, J; Owen, N; Bacino, CA; Tofts, L; Charrow, J; et al.
Genetics in Medicine.
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Bilateral Oophorectomy and the Risk of Breast Cancer in BRCA1 Mutation Carriers: A Reappraisal.
Kotsopoulos, J; Lubinski, J; Gronwald, J; Menkiszak, J; McCuaig, J; Metcalfe, K; Foulkes, WD; Neuhausen, SL; Sun, S; Karlan, BY; et al.
Cancer Epidemiology Biomarkers and Prevention.
2022;
31:1351-1358.
Infigratinib in children with achondroplasia: the PROPEL and PROPEL 2 studies.
Savarirayan, R; De Bergua, JM; Arundel, P; McDevitt, H; Cormier-Daire, V; Saraff, V; Skae, M; Delgado, B; Leiva-Gea, A; Santos-Simarro, F; et al.
Therapeutic Advances in Musculoskeletal Disease.
2022;
14.
Robin sequence without cleft palate: Genetic diagnoses and management implications.
Weaver, KN; Sullivan, BR; Balow, SA; Hopkin, S; Chini, BA; Pan, BS; Stottmann, RW; Bender, PL; Hopkin, RJ; Zhang, X; et al.
American Journal of Medical Genetics, Part A.
2022;
188:160-177.
Safe and persistent growth-promoting effects of vosoritide in children with achondroplasia: 2-year results from an open-label, phase 3 extension study.
Savarirayan, R; Tofts, L; Irving, M; Wilcox, WR; Bacino, CA; Hoover-Fong, J; Font, RU; Harmatz, P; Rutsch, F; Bober, MB; et al.
Genetics in Medicine.
2021;
23:2443-2447.
Weight Gain and the Risk of Ovarian Cancer in BRCA1 and BRCA2 Mutation Carriers.
Kim, SJ; Lubinski, J; Huzarski, T; Møller, P; Armel, S; Karlan, BY; Senter, L; Eisen, A; Foulkes, WD; Singer, CF; et al.
Cancer Epidemiology Biomarkers and Prevention.
2021;
30:2038-2043.
Breast cancer risk after age 60 among BRCA1 and BRCA2 mutation carriers.
Stjepanovic, N; Lubinski, J; Moller, P; Randall Armel, S; Foulkes, WD; Tung, N; Neuhausen, SL; Kotsopoulos, J; Sun, P; Sun, S; et al.
Breast Cancer Research and Treatment.
2021;
187:515-523.
ROBIN SEQUENCE.
Saal, HM.
Cassidy and Allanson's Management of Genetic Syndromes.
2021.
Mandibulofacial dysostosis with microcephaly: An expansion of the phenotype via parental survey.
Abell, K; Hopkin, RJ; Bender, PL; Jackson, F; Smallwood, K; Sullivan, B; Stottmann, RW; Saal, HM; Weaver, KN.
American Journal of Medical Genetics, Part A.
2021;
185:413-423.
Case Report: Is Catatonia a Clinical Feature of the Natural Progression of NLGN2-Related Neurodevelopmental Disorder?.
Shillington, A; Lamy, M; Vawter-Lee, M; Erickson, C; Saal, H; Comoletti, D; Abell, K.
Journal of Autism and Developmental Disorders.
2021;
51:371-376.