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)
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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)
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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)
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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)
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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)
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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)
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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)
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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)
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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)
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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)
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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)
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Journal Article
Best practice guidelines in managing the craniofacial aspects of skeletal dysplasia
Savarirayan, Ravi, Tunkel, David E, Sterni, Laura M, Bober, Michael B, Cho, Tae-Joon, Goldberg, Michael J, Hoover-Fong, Julie, Irving, Melita, Kamps, Shawn E, Mackenzie, William G, Raggio, Cathleen, Spencer, Samantha A, Bompadre, Viviana, White, Klane K
Published in Orphanet journal of rare diseases (14.01.2021)
Published in Orphanet journal of rare diseases (14.01.2021)
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Journal Article
Multicenter study of mortality in achondroplasia
Hashmi, S. Shahrukh, Gamble, Candace, Hoover‐Fong, Julie, Alade, Adekemi Yewande, Pauli, Richard M., Modaff, Peggy, Carney, Meagan, Brown, Cassondra, Bober, Michael B., Hecht, Jacqueline T.
Published in American journal of medical genetics. Part A (01.11.2018)
Published in American journal of medical genetics. Part A (01.11.2018)
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Journal Article
Best practice guidelines for management of spinal disorders in skeletal dysplasia
White, Klane K, Bober, Michael B, Cho, Tae-Joon, Goldberg, Michael J, Hoover-Fong, Julie, Irving, Melita, Kamps, Shawn E, Mackenzie, William G, Raggio, Cathleen, Spencer, Samantha A, Bompadre, Viviana, Savarirayan, Ravi
Published in Orphanet journal of rare diseases (24.06.2020)
Published in Orphanet journal of rare diseases (24.06.2020)
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Journal Article
Extreme Growth Failure is a Common Presentation of Ligase IV Deficiency
Murray, Jennie E., Bicknell, Louise S., Yigit, Gökhan, Duker, Angela L., van Kogelenberg, Margriet, Haghayegh, Sara, Wieczorek, Dagmar, Kayserili, Hülya, Albert, Michael H., Wise, Carol A., Brandon, January, Kleefstra, Tjitske, Warris, Adilia, van der Flier, Michiel, Bamforth, J. Steven, Doonanco, Kurston, Adès, Lesley, Ma, Alan, Field, Michael, Johnson, Diana, Shackley, Fiona, Firth, Helen, Woods, C. Geoffrey, Nürnberg, Peter, Gatti, Richard A., Hurles, Matthew, Bober, Michael B., Wollnik, Bernd, Jackson, Andrew P.
Published in Human mutation (01.01.2014)
Published in Human mutation (01.01.2014)
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Journal Article
Overlapping and Distinct Features of Cardiac Pathology in Inherited Human and Murine Ether Lipid Deficiency
Dorninger, Fabian, Kiss, Attila, Rothauer, Peter, Stiglbauer-Tscholakoff, Alexander, Kummer, Stefan, Fallatah, Wedad, Perera-Gonzalez, Mireia, Hamza, Ouafa, König, Theresa, Bober, Michael B, Cavallé-Garrido, Tiscar, Braverman, Nancy E, Forss-Petter, Sonja, Pifl, Christian, Bauer, Jan, Bittner, Reginald E, Helbich, Thomas H, Podesser, Bruno K, Todt, Hannes, Berger, Johannes
Published in International journal of molecular sciences (18.01.2023)
Published in International journal of molecular sciences (18.01.2023)
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Journal Article
Infigratinib in children with achondroplasia: the PROPEL and PROPEL 2 studies
Savarirayan, Ravi, De Bergua, Josep Maria, Arundel, Paul, McDevitt, Helen, Cormier-Daire, Valerie, Saraff, Vrinda, Skae, Mars, Delgado, Borja, Leiva-Gea, Antonio, Santos-Simarro, Fernando, Salles, Jean Pierre, Nicolino, Marc, Rossi, Massimiliano, Kannu, Peter, Bober, Michael B., Phillips, John, Saal, Howard, Harmatz, Paul, Burren, Christine, Gotway, Garrett, Cho, Terry, Muslimova, Elena, Weng, Richard, Rogoff, Daniela, Hoover-Fong, Julie, Irving, Melita
Published in Therapeutic advances in musculoskeletal disease (01.03.2022)
Published in Therapeutic advances in musculoskeletal disease (01.03.2022)
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Journal Article
Trends in Serum Cytokine Expression in Pediatric Skeletal Dysplasia
O'Connell, David A., Carroll, Ricki S., Duker, Angela L., Schelhaas, Andrea J., Postell, Marjorie M., Fawcett, Paul T., Bober, Michael B.
Published in JBMR plus (01.12.2023)
Published in JBMR plus (01.12.2023)
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Journal Article
A mutation in TRPV4 results in altered chondrocyte calcium signaling in severe metatropic dysplasia
Hurd, Lauren, Kirwin, Susan M., Boggs, Mary, Mackenzie, William G., Bober, Michael B., Funanage, Vicky L., Duncan, Randall L.
Published in American journal of medical genetics. Part A (01.10.2015)
Published in American journal of medical genetics. Part A (01.10.2015)
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Journal Article
Majewski Osteodysplastic Primordial Dwarfism Type II (MOPD II): Expanding the vascular phenotype
Bober, Michael B., Khan, Nadia, Kaplan, Jennifer, Lewis, Kristi, Feinstein, Jeffrey A., Scott, Charles I., Steinberg, Gary K.
Published in American journal of medical genetics. Part A (01.04.2010)
Published in American journal of medical genetics. Part A (01.04.2010)
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