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
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
Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C D box snoRNA cluster in Prader-Willi syndrome
Duker, Angela L, Ballif, Blake C, Bawle, Erawati V, Person, Richard E, Mahadevan, Sangeetha, Alliman, Sarah, Thompson, Regina, Traylor, Ryan, Bejjani, Bassem A, Shaffer, Lisa G, Rosenfeld, Jill A, Lamb, Allen N, Sahoo, Trilochan
Published in European journal of human genetics : EJHG (01.11.2010)
Published in European journal of human genetics : EJHG (01.11.2010)
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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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Journal Article
The expanding phenotype of RNU4ATAC pathogenic variants to Lowry Wood syndrome
Farach, Laura S., Little, Mary E., Duker, Angela L., Logan, Clare V., Jackson, Andrew, Hecht, Jaqueline T., Bober, Michael
Published in American journal of medical genetics. Part A (01.02.2018)
Published in American journal of medical genetics. Part A (01.02.2018)
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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
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
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
NOVEL XRCC4 MUTATIONS IN AN INFANT WITH MICROCEPHALIC PRIMORDIAL DWARFISM, DILATED CARDIOMYOPATHY, SUBCLINICAL HYPOTHYROIDISM, AND EARLY DEATH: EXPANDING THE PHENOTYPE OF XRCC4 MUTATIONS
Fredette, Meghan E, Lombardi, Kristin C, Duker, Angela L, Buck, Catherine O, Phornphutkul, Chanika, Bober, Michael B, Quintos, Jose Bernardo
Published in AACE clinical case reports (01.01.2020)
Published in AACE clinical case reports (01.01.2020)
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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)
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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)
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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 (09.05.2023)
Published in Anesthesia and analgesia (09.05.2023)
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Journal Article
Identification of potential non-invasive biomarkers in diastrophic dysplasia
Paganini, Chiara, Carroll, Ricki S., Gramegna Tota, Chiara, Schelhaas, Andrea J., Leone, Alessandra, Duker, Angela L., O'Connell, David A., Coghlan, Ryan F., Johnstone, Brian, Ferreira, Carlos R., Peressini, Sabrina, Albertini, Riccardo, Forlino, Antonella, Bonafé, Luisa, Campos-Xavier, Ana Belinda, Superti-Furga, Andrea, Zankl, Andreas, Rossi, Antonio, Bober, Michael B.
Published in Bone (New York, N.Y.) (01.10.2023)
Published in Bone (New York, N.Y.) (01.10.2023)
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Journal Article
RAB1A haploinsufficiency phenocopies the 2p14–p15 microdeletion and is associated with impaired neuronal differentiation
Rios, Jonathan J., Li, Yang, Paria, Nandina, Bohlender, Ryan J., Huff, Chad, Rosenfeld, Jill A., Liu, Pengfei, Bi, Weimin, Haga, Kentaro, Fukuda, Mitsunori, Vashisth, Shayal, Kaur, Kiran, Chahrour, Maria H., Bober, Michael B., Duker, Angela L., Ladha, Farah A., Hanchard, Neil A., Atala, Kristhen, Khanshour, Anas M., Smith, Linsley, Wise, Carol A., Delgado, Mauricio R.
Published in American journal of human genetics (07.12.2023)
Published in American journal of human genetics (07.12.2023)
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Journal Article
Growth in individuals with Saul–Wilson syndrome
Ferreira, Carlos R., Niiler, Timothy, Duker, Angela L., Jackson, Andrew P., Bober, Michael B.
Published in American journal of medical genetics. Part A (01.09.2020)
Published in American journal of medical genetics. Part A (01.09.2020)
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Journal Article
Rhizomelic chondrodysplasia punctata morbidity and mortality, an update
Duker, Angela L., Niiler, Timothy, Kinderman, Dagmar, Schouten, Monica, Poll‐The, Bwee Tien, Braverman, Nancy, Bober, Michael B.
Published in American journal of medical genetics. Part A (01.03.2020)
Published in American journal of medical genetics. Part A (01.03.2020)
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Journal Article
Collagen X Marker Levels are Decreased in Individuals with Achondroplasia
Carroll, Ricki S., Olney, Robert C., Duker, Angela L., Coghlan, Ryan F., Mackenzie, William G., Ditro, Colleen P., Brown, Cassondra J., O’Connell, David A., Horton, William A., Johnstone, Brian, Espiner, Eric A., Prickett, Timothy C. R., Bober, Michael B.
Published in Calcified tissue international (01.07.2022)
Published in Calcified tissue international (01.07.2022)
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