Once-daily, subcutaneous vosoritide therapy in children with achondroplasia: a randomised, double-blind, phase 3, placebo-controlled, multicentre trial
Savarirayan, Ravi, Tofts, Louise, Irving, Melita, Wilcox, William, Bacino, Carlos A, Hoover-Fong, Julie, Ullot Font, Rosendo, Harmatz, Paul, Rutsch, Frank, Bober, Michael B, Polgreen, Lynda E, Ginebreda, Ignacio, Mohnike, Klaus, Charrow, Joel, Hoernschemeyer, Daniel, Ozono, Keiichi, Alanay, Yasemin, Arundel, Paul, Kagami, Shoji, Yasui, Natsuo, White, Klane K, Saal, Howard M, Leiva-Gea, Antonio, Luna-González, Felipe, Mochizuki, Hiroshi, Basel, Donald, Porco, Dania M, Jayaram, Kala, Fisheleva, Elena, Huntsman-Labed, Alice, Day, Jonathan
Published in The Lancet (British edition) (05.09.2020)
Published in The Lancet (British edition) (05.09.2020)
Get full text
Journal Article
GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome
LaCroix, Amy J., Stabley, Deborah, Sahraoui, Rebecca, Adam, Margaret P., Mehaffey, Michele, Kernan, Kelly, Myers, Candace T., Fagerstrom, Carrie, Anadiotis, George, Akkari, Yassmine M., Robbins, Katherine M., Gripp, Karen W., Baratela, Wagner A.R., Bober, Michael B., Duker, Angela L., Doherty, Dan, Dempsey, Jennifer C., Miller, Daniel G., Kircher, Martin, Bamshad, Michael J., Nickerson, Deborah A., Mefford, Heather C., Sol-Church, Katia
Published in American journal of human genetics (03.01.2019)
Published in American journal of human genetics (03.01.2019)
Get full text
Journal Article
Immune Deficiency in Microcephalic Osteodysplastic Primordial Dwarfism Type I/III
Sirohi, Neha, Duker, Angela L., Bober, Michael B., DeFelice, Magee L.
Published in Journal of clinical immunology (01.07.2023)
Published in Journal of clinical immunology (01.07.2023)
Get full text
Journal Article
Mutations in genes encoding condensin complex proteins cause microcephaly through decatenation failure at mitosis
Martin, Carol-Anne, Murray, Jennie E, Carroll, Paula, Leitch, Andrea, Mackenzie, Karen J, Halachev, Mihail, Fetit, Ahmed E, Keith, Charlotte, Bicknell, Louise S, Fluteau, Adeline, Gautier, Philippe, Hall, Emma A, Joss, Shelagh, Soares, Gabriela, Silva, João, Bober, Michael B, Duker, Angela, Wise, Carol A, Quigley, Alan J, Phadke, Shubha R, Wood, Andrew J, Vagnarelli, Paola, Jackson, Andrew P
Published in Genes & development (01.10.2016)
Published in Genes & development (01.10.2016)
Get full text
Journal Article
Author Correction: Specific heterozygous variants in MGP lead to endoplasmic reticulum stress and cause spondyloepiphyseal dysplasia
Gourgas, Ophélie, Lemire, Gabrielle, Eaton, Alison J, Alshahrani, Sultanah, Duker, Angela L, Li, Jingjing, Carroll, Ricki S, Mackenzie, Stuart, Nikkel, Sarah M, Bober, Michael B, Boycott, Kym M, Murshed, Monzur
Published in Nature communications (30.04.2024)
Published in Nature communications (30.04.2024)
Get full text
Journal Article
Achondroplasia Natural History Study (CLARITY): a multicenter retrospective cohort study of achondroplasia in the United States
Hoover-Fong, Julie E., Alade, Adekemi Y., Hashmi, S. Shahrukh, Hecht, Jacqueline T., Legare, Janet M., Little, Mary Ellen, Liu, Chengxin, McGready, John, Modaff, Peggy, Pauli, Richard M., Rodriguez-Buritica, David F., Schulze, Kerry J., Serna, Maria Elena, Smid, Cory J., Bober, Michael B.
Published in Genetics in medicine (01.08.2021)
Published in Genetics in medicine (01.08.2021)
Get full text
Journal Article
Achondroplasia natural history study (CLARITY): 60-year experience in orthopedic surgery from four skeletal dysplasia centers
Nahm, Nickolas J, Mackenzie, W G Stuart, Mackenzie, William G, Gough, Ethan, Hashmi, S Shahrukh, Hecht, Jacqueline T, Legare, Janet M, Little, Mary Ellen, Modaff, Peggy, Pauli, Richard M, Rodriguez-Buritica, David F, Serna, Maria Elena, Smid, Cory J, Hoover-Fong, Julie, Bober, Michael B
Published in Orphanet journal of rare diseases (06.06.2023)
Published in Orphanet journal of rare diseases (06.06.2023)
Get full text
Journal Article
The patient clinical journey and socioeconomic impact of osteogenesis imperfecta: a systematic scoping review
Rapoport, Maria, Bober, Michael B, Raggio, Cathleen, Wekre, Lena Lande, Rauch, Frank, Westerheim, Ingunn, Hart, Tracy, van Welzenis, Taco, Mistry, Arun, Clancy, James, Booth, Lucy, Prince, Samantha, Semler, Oliver
Published in Orphanet journal of rare diseases (22.02.2023)
Published in Orphanet journal of rare diseases (22.02.2023)
Get full text
Journal Article
The IMPACT survey: a mixed methods study to understand the experience of children, adolescents and adults with osteogenesis imperfecta and their caregivers
Westerheim, Ingunn, Hart, Tracy, van Welzenis, Taco, Wekre, Lena Lande, Semler, Oliver, Raggio, Cathleen, Bober, Michael B, Rapoport, Maria, Prince, Samantha, Rauch, Frank
Published in Orphanet journal of rare diseases (21.03.2024)
Published in Orphanet journal of rare diseases (21.03.2024)
Get full text
Journal Article
Enzyme-Replacement Therapy in Life-Threatening Hypophosphatasia
Whyte, Michael P, Greenberg, Cheryl R, Salman, Nada J, Bober, Michael B, McAlister, William H, Wenkert, Deborah, Van Sickle, Bradley J, Simmons, Jill H, Edgar, Terence S, Bauer, Martin L, Hamdan, Mohamed A, Bishop, Nick, Lutz, Richard E, McGinn, Mairead, Craig, Stanley, Moore, Jean N, Taylor, John W, Cleveland, Robert H, Cranley, William R, Lim, Ruth, Thacher, Tom D, Mayhew, Jill E, Downs, Matthew, Millán, José Luis, Skrinar, Alison M, Crine, Philippe, Landy, Hal
Published in The New England journal of medicine (08.03.2012)
Published in The New England journal of medicine (08.03.2012)
Get full text
Journal Article
Specific heterozygous variants in MGP lead to endoplasmic reticulum stress and cause spondyloepiphyseal dysplasia
Gourgas, Ophélie, Lemire, Gabrielle, Eaton, Alison J, Alshahrani, Sultanah, Duker, Angela L, Li, Jingjing, Carroll, Ricki S, Mackenzie, Stuart, Nikkel, Sarah M, Bober, Michael B, Boycott, Kym M, Murshed, Monzur
Published in Nature communications (03.11.2023)
Published in Nature communications (03.11.2023)
Get full text
Journal Article
Obstructive airway in Morquio A syndrome, the past, the present and the future
Tomatsu, Shunji, Averill, Lauren W., Sawamoto, Kazuki, Mackenzie, William G., Bober, Michael B., Pizarro, Christian, Goff, Christopher J., Xie, Li, Orii, Tadao, Theroux, Mary
Published in Molecular genetics and metabolism (01.02.2016)
Published in Molecular genetics and metabolism (01.02.2016)
Get full text
Journal Article
Growth in achondroplasia including stature, weight, weight-for-height and head circumference from CLARITY: achondroplasia natural history study-a multi-center retrospective cohort study of achondroplasia in the US
Hoover-Fong, Julie E, Schulze, Kerry J, Alade, Adekemi Y, Bober, Michael B, Gough, Ethan, Hashmi, S Shahrukh, Hecht, Jacqueline T, Legare, Janet M, Little, Mary Ellen, Modaff, Peggy, Pauli, Richard M, Rodriguez-Buritica, David F, Serna, Maria E, Smid, Cory, Liu, Chengxin, McGready, John
Published in Orphanet journal of rare diseases (23.12.2021)
Published in Orphanet journal of rare diseases (23.12.2021)
Get full text
Journal Article
Development of a Weight-Band Dosing Approach for Vosoritide in Children with Achondroplasia Using a Population Pharmacokinetic Model
Qi, Yulan, Chan, Ming Liang, Mould, Diane R., Larimore, Kevin, Fisheleva, Elena, Cherukuri, Anu, Day, Jonathan, Savarirayan, Ravi, Irving, Melita, Bacino, Carlos A., Hoover-Fong, Julie, Ozono, Keiichi, Mohnike, Klaus, Wilcox, William R., Bober, Michael B., Henshaw, Joshua
Published in Clinical pharmacokinetics (01.05.2024)
Published in Clinical pharmacokinetics (01.05.2024)
Get full text
Journal Article
Safe and persistent growth-promoting effects of vosoritide in children with achondroplasia: 2-year results from an open-label, phase 3 extension study
Savarirayan, Ravi, Tofts, Louise, Irving, Melita, Wilcox, William R, Bacino, Carlos A, Hoover-Fong, Julie, Font, Rosendo Ullot, Harmatz, Paul, Rutsch, Frank, Bober, Michael B, Polgreen, Lynda E, Ginebreda, Ignacio, Mohnike, Klaus, Charrow, Joel, Hoernschemeyer, Daniel, Ozono, Keiichi, Alanay, Yasemin, Arundel, Paul, Kotani, Yumiko, Yasui, Natsuo, White, Klane K, Saal, Howard M, Leiva-Gea, Antonio, Luna-González, Felipe, Mochizuki, Hiroshi, Basel, Donald, Porco, Dania M, Jayaram, Kala, Fisheleva, Elena, Huntsman-Labed, Alice, Day, Jonathan R S
Published in Genetics in medicine (01.12.2021)
Published in Genetics in medicine (01.12.2021)
Get full text
Journal Article
Tracheal Narrowing and Its Impact on Anesthesia Care in Patients With Morquio A (Mucopolysaccharidosis Type IVA): An Observational Study
Theroux, Mary C, DiCindio, Sabina, Averill, Lauren W, Pizarro, Christian, Oommen, Abraham, Bober, Michael B, Ditro, Colleen, Campbell, Jeffrey, Duker, Angela L, Jones, Taylor, Passi, Vandna, Barth, Patrick, Schmidt, Richard J, Little, Mary, Mackenzie, Stuart, Tomatsu, Shunji, Mackenzie, William G
Published in Anesthesia and analgesia (01.11.2023)
Published in Anesthesia and analgesia (01.11.2023)
Get more information
Journal Article
Association of TALS Developmental Disorder with Defect in Minor Splicing Component U4atac snRNA
Edery, Patrick, Marcaillou, Charles, Sahbatou, Mourad, Labalme, Audrey, Chastang, Joelle, Touraine, Renaud, Tubacher, Emmanuel, Senni, Faiza, Bober, Michael B., Nampoothiri, Sheela, Jouk, Pierre-Simon, Steichen, Elisabeth, Berland, Siren, Toutain, Annick, Wise, Carol A., Sanlaville, Damien, Rousseau, Francis, Clerget-Darpoux, Françoise, Leutenegger, Anne-Louise
Published in Science (American Association for the Advancement of Science) (08.04.2011)
Published in Science (American Association for the Advancement of Science) (08.04.2011)
Get full text
Journal Article
Best practice guidelines regarding prenatal evaluation and delivery of patients with skeletal dysplasia
Savarirayan, Ravi, Rossiter, Judith P., Hoover-Fong, Julie E., Irving, Melita, Bompadre, Viviana, Goldberg, Michael J., Bober, Michael B., Cho, Tae-Joon, Kamps, Shawn E., Mackenzie, William G., Raggio, Cathleen, Spencer, Samantha S., White, Klane K.
Published in American journal of obstetrics and gynecology (01.12.2018)
Published in American journal of obstetrics and gynecology (01.12.2018)
Get full text
Journal Article
Microcephalic osteodysplastic primordial dwarfism type II is associated with global vascular disease
Duker, Angela L, Kinderman, Dagmar, Jordan, Christy, Niiler, Tim, Baker-Smith, Carissa M, Thompson, Louise, Parry, David A, Carroll, Ricki S, Bober, Michael B
Published in Orphanet journal of rare diseases (20.05.2021)
Published in Orphanet journal of rare diseases (20.05.2021)
Get full text
Journal Article