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2022

Journal Article

Curative cell and gene therapy for osteogenesis imperfecta

Schindeler, Aaron, Lee, Lucinda R., O'Donohue, Alexandra K., Ginn, Samantha L. and Munns, Craig F. (2022). Curative cell and gene therapy for osteogenesis imperfecta. Journal of Bone and Mineral Research, 37 (5), 826-836. doi: 10.1002/jbmr.4549

Curative cell and gene therapy for osteogenesis imperfecta

2022

Journal Article

Erratum to: Indian Academy of Pediatrics Revised (2021) Guidelines on Prevention and Treatment of Vitamin D Deficiency and Rickets (Indian Pediatrics, (2022), 59, 2, (142-158), 10.1007/s13312-022-2448-y)

Gupta, Piyush, Dabas, Aashima, Seth, Anju, Bhatia, Vijay Lakshmi, Khadgawat, Rajesh, Kumar, Praveen, Balasubramanian, S., Khadilkar, Vaman, Mallikarjuna, H. B., Godbole, Tushar, Krishnamurthy, Sriram, Goyal, Jagdish Prasad, Bhakhri, Bhanu Kiran, Ahmad, Ayesha, Angadi, Kumar, Basavaraja, G. V., Parekh, Bakul J., Kurpad, Anura, Marwaha, R. K., Shah, Dheeraj, Munns, Craig and Sachdev, H. P.S. (2022). Erratum to: Indian Academy of Pediatrics Revised (2021) Guidelines on Prevention and Treatment of Vitamin D Deficiency and Rickets (Indian Pediatrics, (2022), 59, 2, (142-158), 10.1007/s13312-022-2448-y). Indian Pediatrics, 59 (3), 209-209. doi: 10.1007/s13312-022-2467-8

Erratum to: Indian Academy of Pediatrics Revised (2021) Guidelines on Prevention and Treatment of Vitamin D Deficiency and Rickets (Indian Pediatrics, (2022), 59, 2, (142-158), 10.1007/s13312-022-2448-y)

2022

Journal Article

Indian Academy of Pediatrics Revised (2021) Guidelines on Prevention and Treatment of Vitamin D Deficiency and Rickets

Gupta, Piyush, Dabas, Aashima, Seth, Anju, Bhatia, Vijay Lakshmi, Khadgawat, Rajesh, Kumar, Praveen, Balasubramanian, S., Khadilkar, Vaman, Mallikarjuna, H. B., Godbole, Tushar, Krishnamurthy, Sriram, Goyal, Jagdish Prasad, Bhakhri, Bhanu Kiran, Ahmad, Ayesha, Angadi, Kumar, Basavaraja, G., Parekh, Bakul J., Kurpad, Anura, Marwaha, R. K., Shah, Dheeraj, Munns, Craig and Sachdev, H. P. S. (2022). Indian Academy of Pediatrics Revised (2021) Guidelines on Prevention and Treatment of Vitamin D Deficiency and Rickets. Indian Pediatrics, 59 (2), 142-158. doi: 10.1007/s13312-022-2448-y

Indian Academy of Pediatrics Revised (2021) Guidelines on Prevention and Treatment of Vitamin D Deficiency and Rickets

2021

Journal Article

Development of the Screening Tool for Everyday Mobility and Symptoms (STEMS) for skeletal dysplasia

Ireland, Penelope J., Savarirayan, Ravi, Pocovi, Tash, Tate, Tracy, Coussens, Marie, Tofts, Louise, Munns, Craig and Pacey, Verity (2021). Development of the Screening Tool for Everyday Mobility and Symptoms (STEMS) for skeletal dysplasia. Orphanet Journal of Rare Diseases, 16 (1) 40. doi: 10.1186/s13023-021-01681-z

Development of the Screening Tool for Everyday Mobility and Symptoms (STEMS) for skeletal dysplasia

2021

Journal Article

Control of osteocyte dendrite formation by Sp7 and its target gene osteocrin

Wang, Jialiang S., Kamath, Tushar, Mazur, Courtney M., Mirzamohammadi, Fatemeh, Rotter, Daniel, Hojo, Hironori, Castro, Christian D., Tokavanich, Nicha, Patel, Rushi, Govea, Nicolas, Enishi, Tetsuya, Wu, Yunshu, da Silva Martins, Janaina, Bruce, Michael, Brooks, Daniel J., Bouxsein, Mary L., Tokarz, Danielle, Lin, Charles P., Abdul, Abdul, Macosko, Evan Z., Fiscaletti, Melissa, Munns, Craig F., Ryder, Pearl, Kost-Alimova, Maria, Byrne, Patrick, Cimini, Beth, Fujiwara, Makoto, Kronenberg, Henry M. and Wein, Marc N. (2021). Control of osteocyte dendrite formation by Sp7 and its target gene osteocrin. Nature Communications, 12 (1) 6271. doi: 10.1038/s41467-021-26571-7

Control of osteocyte dendrite formation by Sp7 and its target gene osteocrin

2021

Journal Article

BCG vaccination to reduce the impact of COVID-19 in healthcare workers: Protocol for a randomised controlled trial (BRACE trial)

Pittet, Laure F., Messina, Nicole L., Gardiner, Kaya, Orsini, Francesca, Abruzzo, Veronica, Bannister, Samantha, Bonten, Marc, Campbell, John L., Croda, Julio, Dalcolmo, Margareth, Elia, Sonja, Germano, Susie, Goodall, Casey, Gwee, Amanda, Jamieson, Tenaya, Jardim, Bruno, Kollmann, Tobias R., Lacerda, Marcus Vinícius Guimarães, Lee, Katherine J., Legge, Donna, Lucas, Michaela, Lynn, David J., McDonald, Ellie, Manning, Laurens, Munns, Craig F., Perrett, Kirsten P., Prat Aymerich, Cristina, Richmond, Peter, Shann, Frank ... Curtis, Nigel (2021). BCG vaccination to reduce the impact of COVID-19 in healthcare workers: Protocol for a randomised controlled trial (BRACE trial). BMJ Open, 11 (10) e052101, e052101. doi: 10.1136/bmjopen-2021-052101

BCG vaccination to reduce the impact of COVID-19 in healthcare workers: Protocol for a randomised controlled trial (BRACE trial)

2021

Journal Article

L‐carnitine supplementation for muscle weakness and fatigue in children with neurofibromatosis type 1: A Phase 2a clinical trial

Vasiljevski, Emily R., Burns, Joshua, Bray, Paula, Donlevy, Gabrielle, Mudge, Anita J., Jones, Kristi J., Summers, Matthew A., Biggin, Andrew, Munns, Craig F., McKay, Marnee J., Baldwin, Jennifer N., Little, David G. and Schindeler, Aaron (2021). L‐carnitine supplementation for muscle weakness and fatigue in children with neurofibromatosis type 1: A Phase 2a clinical trial. American Journal of Medical Genetics. Part A, 185 (10), 2976-2985. doi: 10.1002/ajmg.a.62392

L‐carnitine supplementation for muscle weakness and fatigue in children with neurofibromatosis type 1: A Phase 2a clinical trial

2021

Journal Article

Long-term outcomes of warfarin versus aspirin after Fontan surgery

Attard, Chantal, Monagle, Paul T., d'Udekem, Yves, Mackay, Mark T., Briody, Julie, Cordina, Rachael, Hassan, Ebrahim Bani, Simm, Peter, Rice, Kathryn, Ignjatovic, Vera, Mandelstam, Simone, Munns, Craig, Gentles, Thomas, Grigg, Leeanne, Winlaw, David and Yang, Joseph Yuan-Mou (2021). Long-term outcomes of warfarin versus aspirin after Fontan surgery. Journal of Thoracic and Cardiovascular Surgery, 162 (4), 1218-1228. doi: 10.1016/j.jtcvs.2020.12.102

Long-term outcomes of warfarin versus aspirin after Fontan surgery

2021

Journal Article

Bone mineral density and type 1 diabetes in children and adolescents: a meta-analysis

Loxton, Phoebe, Narayan, Kruthika, Munns, Craig F. and Craig, Maria E. (2021). Bone mineral density and type 1 diabetes in children and adolescents: a meta-analysis. Diabetes Care, 44 (8), 1898-1905. doi: 10.2337/dc20-3128

Bone mineral density and type 1 diabetes in children and adolescents: a meta-analysis

2021

Journal Article

Zoledronic acid vs placebo in pediatric glucocorticoid-induced osteoporosis: a randomized, double-blind, phase 3 trial

Ward, Leanne M., Choudhury, Anup, Alos, Nathalie, Cabral, David A., Rodd, Celia, Sbrocchi, Anne Marie, Taback, Shayne, Padidela, Raja, Shaw, Nick J., Hosszu, Eva, Kostik, Mikhail, Alexeeva, Ekaterina, Thandrayen, Kebashni, Shenouda, Nazih, Jaremko, Jacob L., Sunkara, Gangadhar, Sayyed, Sarfaraz, Aftring, R. Paul and Munns, Craig F. (2021). Zoledronic acid vs placebo in pediatric glucocorticoid-induced osteoporosis: a randomized, double-blind, phase 3 trial. Journal of Clinical Endocrinology and Metabolism, 106 (12), E5222-E5235. doi: 10.1210/clinem/dgab458

Zoledronic acid vs placebo in pediatric glucocorticoid-induced osteoporosis: a randomized, double-blind, phase 3 trial

2021

Journal Article

The validity of serum alkaline phosphatase to identify nutritional rickets in Nigerian children on a calcium-deprived diet

Thacher, Tom D., Sempos, Christopher T., Durazo-Arvizu, Ramon A., Fischer, Philip R., Munns, Craig F. and Pettifor, John M. (2021). The validity of serum alkaline phosphatase to identify nutritional rickets in Nigerian children on a calcium-deprived diet. Journal of Clinical Endocrinology and Metabolism, 106 (9), E3559-E3564. doi: 10.1210/clinem/dgab328

The validity of serum alkaline phosphatase to identify nutritional rickets in Nigerian children on a calcium-deprived diet

2021

Journal Article

Randomized controlled trial evaluating the use of zoledronic acid in Duchenne muscular dystrophy

Zacharin, Margaret, Lim, Angelina, Gryllakis, James, Siafarikas, Aris, Jefferies, Craig, Briody, Julie, Heather, Natasha, Pitkin, Janne, Emmanuel, Jaiman, Lee, Katherine J., Wang, Xiaofang, Simm, Peter J. and Munns, Craig F. (2021). Randomized controlled trial evaluating the use of zoledronic acid in Duchenne muscular dystrophy. Journal of Clinical Endocrinology and Metabolism, 106 (8), 2328-2342. doi: 10.1210/clinem/dgab302

Randomized controlled trial evaluating the use of zoledronic acid in Duchenne muscular dystrophy

2021

Journal Article

Serum 25-hydroxyvitamin D requirements to prevent nutritional rickets in Nigerian children on a low-calcium diet-a multivariable reanalysis

Sempos, Christopher T., Durazo-Arvizu, Ramon A., Fischer, Philip R., Munns, Craig F., Pettifor, John M. and Thacher, Tom D. (2021). Serum 25-hydroxyvitamin D requirements to prevent nutritional rickets in Nigerian children on a low-calcium diet-a multivariable reanalysis. American Journal of Clinical Nutrition, 114 (1), 231-237. doi: 10.1093/ajcn/nqab048

Serum 25-hydroxyvitamin D requirements to prevent nutritional rickets in Nigerian children on a low-calcium diet-a multivariable reanalysis

2021

Journal Article

Acute illness in children with secondary adrenal insufficiency

Rushworth, Rosemary Louise, Gouvoussis, Nikki, Goubar, Thomas, Maguire, Ann, Munns, Craig F., Neville, Kristen A. and Torpy, David J. (2021). Acute illness in children with secondary adrenal insufficiency. Clinical Endocrinology, 94 (6), 913-919. doi: 10.1111/cen.14427

Acute illness in children with secondary adrenal insufficiency

2021

Journal Article

Patient-reported outcomes from a randomized, active-controlled, open-label, phase 3 trial of burosumab versus conventional therapy in children with X-linked hypophosphatemia

Padidela, Raja, Whyte, Michael P., Glorieux, Francis H., Munns, Craig F., Ward, Leanne M., Nilsson, Ola, Portale, Anthony A., Simmons, Jill H., Namba, Noriyuki, Cheong, Hae Il, Pitukcheewanont, Pisit, Sochett, Etienne, Hogler, Wolfgang, Muroya, Koji, Tanaka, Hiroyuki, Gottesman, Gary S., Biggin, Andrew, Perwad, Farzana, Williams, Angela, Nixon, Annabel, Sun, Wei, Chen, Angel, Skrinar, Alison and Imel, Erik A. (2021). Patient-reported outcomes from a randomized, active-controlled, open-label, phase 3 trial of burosumab versus conventional therapy in children with X-linked hypophosphatemia. Calcified Tissue International, 108 (5), 622-633. doi: 10.1007/s00223-020-00797-x

Patient-reported outcomes from a randomized, active-controlled, open-label, phase 3 trial of burosumab versus conventional therapy in children with X-linked hypophosphatemia

2020

Journal Article

Impact of heritable disorders of connective tissue on daily life of children: parent perspectives

Wesley, Alison, Bray, Paula, Munns, Craig F. and Pacey, Verity (2020). Impact of heritable disorders of connective tissue on daily life of children: parent perspectives. Journal of Paediatrics and Child Health, 57 (5), 626-630. doi: 10.1111/jpc.15284

Impact of heritable disorders of connective tissue on daily life of children: parent perspectives

2020

Journal Article

Editorial: childhood rickets-new developments in epidemiology, prevention, and treatment

Simm, Peter J., Munns, Craig F., Jefferies, Craig Alan and Wheeler, Benjamin John (2020). Editorial: childhood rickets-new developments in epidemiology, prevention, and treatment. Frontiers in Endocrinology, 11 621734. doi: 10.3389/fendo.2020.621734

Editorial: childhood rickets-new developments in epidemiology, prevention, and treatment

2020

Journal Article

High bone mineral density osteogenesis imperfecta in a family with a novel pathogenic variant in COL1A2

Graves, Lara E., Wall, Christie-Lee, Briody, Julie N., Bennetts, Bruce, Wong, Karen, Onikul, Ella, Biggin, Andrew and Munns, Craig F. (2020). High bone mineral density osteogenesis imperfecta in a family with a novel pathogenic variant in COL1A2. Hormone Research in Paediatrics, 93 (4), 263-271. doi: 10.1159/000510463

High bone mineral density osteogenesis imperfecta in a family with a novel pathogenic variant in COL1A2

2020

Journal Article

Effect of testosterone treatment for delayed puberty in Duchenne muscular dystrophy

Lee, Samantha Lai-Ka, Lim, Angelina, Munns, Craig, Simm, Peter J. and Zacharin, Margaret (2020). Effect of testosterone treatment for delayed puberty in Duchenne muscular dystrophy. Hormone Research in Paediatrics, 93 (2), 108-118. doi: 10.1159/000508290

Effect of testosterone treatment for delayed puberty in Duchenne muscular dystrophy

2020

Journal Article

The effect of patient-managed stress dosing on electrolytes and blood pressure in acute illness in children with adrenal insufficiency

Chrisp, Georgina L., Torpy, David J., Maguire, Ann M., Quartararo, Maria, Falhammar, Henrik, King, Bruce R., Munns, Craig F., Hameed, Shihab and Rushworth, R. Louise (2020). The effect of patient-managed stress dosing on electrolytes and blood pressure in acute illness in children with adrenal insufficiency. Clinical Endocrinology, 93 (2), 97-103. doi: 10.1111/cen.14196

The effect of patient-managed stress dosing on electrolytes and blood pressure in acute illness in children with adrenal insufficiency