Paediatric clinical genetics & dysmorphology

A phase II double-blind multicentre, placebo-controlled trial to assess the efficacy and safety of alpelisib (BYL719) in paediatric and adult patients with Megalencephaly-CApillary malformation Polymicrogyria syndrome (MCAP): the SESAM study protocol
Maxime Luu, Pierre Vabres, Aurélie Espitalier, Agnès Maurer, Aurore Garde, Caroline Racine, Maud Carpentier, Adélaide Rega, Romaric Loffroy, Nawale Hadouiri, Nathalie Boddaert, Aurore Curie, Laurent Guibaud, Mouna Chebbi, Julie Charligny, Paul Kuentz, Guillaume Canaud, Nadia Bahi-Buisson, Camille Fleck, Amelie Cransac, Marc Bardou, Laurence Faivre

BMJ Open Dec 2024, 14 (12) e084614; DOI: 10.1136/bmjopen-2024-084614
Non-uptake of dual protective polio vaccine and its determinants among children in Ethiopia using Ethiopian Demographic Health Survey 2019: a mixed-effect model
Muluken Chanie Agimas, Aysheshim Kassahun Belew, Esmael Ali Muhammad, Tigabu Kidie Tesfie, Molla Azmeraw Bizuayehu, Biruk Beletew Abate, Amare Kassaw

BMJ Open Aug 2024, 14 (8) e083648; DOI: 10.1136/bmjopen-2023-083648
Improving the care of children with GENetic Rare disease: Observational Cohort study (GenROC)—a study protocol
Karen Jaqueline Low, Amy Watford, Peter Blair, Ian Nabney, John Powell, Sarah L Wynn, Julia Foreman, Helen Firth, Jenny Ingram

BMJ Open May 2024, 14 (5) e085237; DOI: 10.1136/bmjopen-2024-085237
Implementation of rapid genomic sequencing in safety-net neonatal intensive care units: protocol for the VIrtual GenOme CenteR (VIGOR) proof-of-concept study
Alissa M D'Gama, Sonia Hills, Jessica Douglas, Vanessa Young, Casie A Genetti, Monica H Wojcik, Henry A Feldman, Timothy W Yu, Margaret G Parker, Pankaj B Agrawal

BMJ Open Feb 2024, 14 (2) e080529; DOI: 10.1136/bmjopen-2023-080529
Epidemiology, aetiology, interventions and genomics in children with arthrogryposis multiplex congenita: protocol for a multisite registry
Noémi Dahan-Oliel, Harold van Bosse, Vasiliki Betty Darsaklis, Frank Rauch, Tanya Bedard, Ghalib Bardai, Michelle James, Ellen Raney, Krister Freese, Lauren Hyer, Haluk Altiok, Jonathan Pellett, Philip Giampietro, Judith Hall, Reggie Charles Hamdy

BMJ Open Oct 2022, 12 (10) e060591; DOI: 10.1136/bmjopen-2021-060591
Protocol for a comprehensive prospective cohort study of trio-based whole-genome sequencing for underlying cancer predisposition in paediatric and adolescent patients newly diagnosed with cancer: the PREDICT study
Noemi Auxiliadora Fuentes Bolanos, Bhavna Padhye, Macabe Daley, Jacqueline Hunter, Kate Hetherington, Meera Warby, Eliza Courtney, Judy Kirk, Sarah Josephi-Taylor, Yuyan Chen, Frank Alvaro, Kristine Barlow-Stewart, Marie Wong-Erasmus, Paulette Barahona, Pamela Ajuyah, Ann-Kristin Altekoester, Vanessa J Tyrrell, Loretta M S Lau, Claire Wakefield, Dianne Sylvester, Katherine Tucker, Mark Pinese, Luciano Dalla Pozza, Tracey A O’Brien

BMJ Open May 2023, 13 (5) e070082; DOI: 10.1136/bmjopen-2022-070082
Burden experienced by informal caregivers of children with sickle cell disease (SCD): a qualitative exploratory study at Tamale Teaching Hospital, Ghana
Najart Deborah Mumuni, Wahab Osman, Basour Adam Alhassan, Afizu Alhassan

BMJ Open Apr 2023, 13 (4) e066311; DOI: 10.1136/bmjopen-2022-066311
Systematic estimates of the global, regional and national under-5 mortality burden attributable to birth defects in 2000–2019: a summary of findings from the 2020 WHO estimates
Jamie Perin, Cara T Mai, Ayesha De Costa, Kathleen Strong, Theresa Diaz, Hannah Blencowe, Robert J Berry, Jennifer L Williams, Li Liu

BMJ Open Jan 2023, 13 (1) e067033; DOI: 10.1136/bmjopen-2022-067033
Morbidity and mortality patterns of preterm low birthweight neonates admitted to referral hospitals in the Amhara region of Ethiopia: retrospective follow-up study
Yalemtsehay Dagnaw Genie, Belete Fenta Kebede, Mulualem Silesh Zerihun, Desalew Tilahun Beyene

BMJ Open Jul 2022, 12 (7) e054574; DOI: 10.1136/bmjopen-2021-054574
Maternal delays and unfavourable newborn outcomes among skilled deliveries in public hospitals of Hadiya Zone, Southern Ethiopia: a case–control study
Dawit Sullamo Erjino, Abera Beyamo Mekiso, Lonsako Abute Woiloro, Tegegn Tadesse Arficho, Aregash Mecha Watumo, Nuradin Abusha Katiso, Tadesse Lelago Ermolo

BMJ Open May 2022, 12 (5) e055569; DOI: 10.1136/bmjopen-2021-055569

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