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1. Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein

Author

de Boer, Elke, primary, Ockeloen, Charlotte W., additional, Kampen, Rosalie A., additional, Hampstead, Juliet E., additional, Dingemans, Alexander J.M., additional, Rots, Dmitrijs, additional, Lütje, Lukas, additional, Ashraf, Tazeen, additional, Baker, Rachel, additional, Barat-Houari, Mouna, additional, Angle, Brad, additional, Chatron, Nicolas, additional, Denommé-Pichon, Anne-Sophie, additional, Devinsky, Orrin, additional, Dubourg, Christèle, additional, Elmslie, Frances, additional, Elloumi, Houda Zghal, additional, Faivre, Laurence, additional, Fitzgerald-Butt, Sarah, additional, Geneviève, David, additional, Goos, Jacqueline A.C., additional, Helm, Benjamin M., additional, Kini, Usha, additional, Lasa-Aranzasti, Amaia, additional, Lesca, Gaetan, additional, Lynch, Sally A., additional, Mathijssen, Irene M.J., additional, McGowan, Ruth, additional, Monaghan, Kristin G., additional, Odent, Sylvie, additional, Pfundt, Rolph, additional, Putoux, Audrey, additional, van Reeuwijk, Jeroen, additional, Santen, Gijs W.E., additional, Sasaki, Erina, additional, Sorlin, Arthur, additional, van der Spek, Peter J., additional, Stegmann, Alexander P.A., additional, Swagemakers, Sigrid M.A., additional, Valenzuela, Irene, additional, Viora-Dupont, Eléonore, additional, Vitobello, Antonio, additional, Ware, Stephanie M., additional, Wéber, Mathys, additional, Gilissen, Christian, additional, Low, Karen J., additional, Fisher, Simon E., additional, Vissers, Lisenka E.L.M., additional, Wong, Maggie M.K., additional, and Kleefstra, Tjitske, additional

Published
2023
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2. Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition

Author

Picketts, David, primary, Mirzaa, Ghayda, additional, Yan, Keqin, additional, Relator, Raissa, additional, Timpano, Sara, additional, Yalcin, Binnaz, additional, Collins, Stephan, additional, Ziegler, Alban, additional, Pao, Emily, additional, Oyama, Nora, additional, Brischoux-Boucher, Elise, additional, PIARD, Juliette, additional, Monaghan, Kristin, additional, Sacoto, Maria Guillen, additional, Dobyns, William, additional, Park, Kristen, additional, Fernández-Mayoralas, Daniel, additional, Fernández-Jaén, Alberto, additional, Jayakar, Parul, additional, Brusco, Alfredo, additional, Antona, Vincenzo, additional, Giorgio, Elisa, additional, Kvarnung, Malin, additional, Isidor, Bertrand, additional, Conrad, Solène, additional, Cogné, Benjamin, additional, Deb, Wallid, additional, Stuurman, K.E., additional, Sterbova, Katalin, additional, Smal, Noor, additional, Weckhuysen, Sarah, additional, Oegema, Renske, additional, Innes, Micheil, additional, Latsko, Maeson, additional, Ben-Omran, Tawfeg, additional, Yeh, Rebecca, additional, Kruer, Michael, additional, Bakhtiari, Somayeh, additional, Papavasiliou, Antigone, additional, Moutton, Sébastien, additional, Nambot, Sophie, additional, Chanprasert, Sirisak, additional, Paolucci, Sarah, additional, Miller, Kait, additional, Burton, Barbara, additional, Kim, Katherine, additional, O'Heir, Emily, additional, Bruwer, Zandre, additional, Donald, Kirsten, additional, Kleefstra, Tjitske, additional, Goldstein, Amy, additional, Angle, Brad, additional, Bontempo, Kelly, additional, Miny, Peter, additional, Joset, Pascal, additional, Demurger, Florence, additional, Hobson, Emma, additional, Pang, Lewis, additional, Carpenter, Lori, additional, Li, Dong, additional, Bonneau, Dominique, additional, and Sadikovic, Bekim, additional

Published
2023
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3. Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition

Author

Genetica Klinische Genetica, Brain, Child Health, Picketts, David, Mirzaa, Ghayda, Yan, Keqin, Relator, Raissa, Timpano, Sara, Yalcin, Binnaz, Collins, Stephan, Ziegler, Alban, Pao, Emily, Oyama, Nora, Brischoux-Boucher, Elise, Piard, Juliette, Monaghan, Kristin, Sacoto, Maria Guillen, Dobyns, William, Park, Kristen, Fernández-Mayoralas, Daniel, Fernández-Jaén, Alberto, Jayakar, Parul, Brusco, Alfredo, Antona, Vincenzo, Giorgio, Elisa, Kvarnung, Malin, Isidor, Bertrand, Conrad, Solène, Cogné, Benjamin, Deb, Wallid, Stuurman, K E, Sterbova, Katalin, Smal, Noor, Weckhuysen, Sarah, Oegema, Renske, Innes, Micheil, Latsko, Maeson, Ben-Omran, Tawfeg, Yeh, Rebecca, Kruer, Michael, Bakhtiari, Somayeh, Papavasiliou, Antigone, Moutton, Sébastien, Nambot, Sophie, Chanprasert, Sirisak, Paolucci, Sarah, Miller, Kait, Burton, Barbara, Kim, Katherine, O'Heir, Emily, Bruwer, Zandre, Donald, Kirsten, Kleefstra, Tjitske, Goldstein, Amy, Angle, Brad, Bontempo, Kelly, Miny, Peter, Joset, Pascal, Demurger, Florence, Hobson, Emma, Pang, Lewis, Carpenter, Lori, Li, Dong, Bonneau, Dominique, Sadikovic, Bekim, Genetica Klinische Genetica, Brain, Child Health, Picketts, David, Mirzaa, Ghayda, Yan, Keqin, Relator, Raissa, Timpano, Sara, Yalcin, Binnaz, Collins, Stephan, Ziegler, Alban, Pao, Emily, Oyama, Nora, Brischoux-Boucher, Elise, Piard, Juliette, Monaghan, Kristin, Sacoto, Maria Guillen, Dobyns, William, Park, Kristen, Fernández-Mayoralas, Daniel, Fernández-Jaén, Alberto, Jayakar, Parul, Brusco, Alfredo, Antona, Vincenzo, Giorgio, Elisa, Kvarnung, Malin, Isidor, Bertrand, Conrad, Solène, Cogné, Benjamin, Deb, Wallid, Stuurman, K E, Sterbova, Katalin, Smal, Noor, Weckhuysen, Sarah, Oegema, Renske, Innes, Micheil, Latsko, Maeson, Ben-Omran, Tawfeg, Yeh, Rebecca, Kruer, Michael, Bakhtiari, Somayeh, Papavasiliou, Antigone, Moutton, Sébastien, Nambot, Sophie, Chanprasert, Sirisak, Paolucci, Sarah, Miller, Kait, Burton, Barbara, Kim, Katherine, O'Heir, Emily, Bruwer, Zandre, Donald, Kirsten, Kleefstra, Tjitske, Goldstein, Amy, Angle, Brad, Bontempo, Kelly, Miny, Peter, Joset, Pascal, Demurger, Florence, Hobson, Emma, Pang, Lewis, Carpenter, Lori, Li, Dong, Bonneau, Dominique, and Sadikovic, Bekim

Published
2023

4. Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein

Author

de Boer, Elke, Ockeloen, Charlotte, Kampen, Rosalie, Hampstead, Juliet, Dingemans, Alexander, Rots, Dmitrijs, Lütje, Lukas, Ashraf, Tazeen, Baker, Rachel, Barat-Houari, Mouna, Angle, Brad, Chatron, Nicolas, Denommé-Pichon, Anne-Sophie, Devinsky, Orrin, Dubourg, Christèle, Elmslie, Frances, Elloumi, Houda Zghal, Faivre, Laurence, Fitzgerald-Butt, Sarah, Geneviève, David, Goos, Jacqueline, Helm, Benjamin, Kini, Usha, Lasa-Aranzasti, Amaia, Lesca, Gaetan, Lynch, Sally, Mathijssen, Irene, Mcgowan, Ruth, Monaghan, Kristin, Odent, Sylvie, Pfundt, Rolph, Putoux, Audrey, van Reeuwijk, Jeroen, Santen, Gijs, Sasaki, Erina, Sorlin, Arthur, van der Spek, Peter, Stegmann, Alexander, Swagemakers, Sigrid, Valenzuela, Irene, Viora-Dupont, Eléonore, Vitobello, Antonio, Ware, Stephanie, Wéber, Mathys, Gilissen, Christian, Low, Karen, Fisher, Simon, Dingemans, Alexander J.M., Goos, Jacqueline A.C., Mathijssen, Irene M.J., Santen, Gijs W.E., Stegmann, Alexander P.A., Swagemakers, Sigrid M.A., Vissers, Lisenka E.L.M., Wong, Maggie M.K., Kleefstra, Tjitske, MUMC+: DA KG Lab Specialisten (9), RS: FHML non-thematic output, Pathology, Plastic and Reconstructive Surgery and Hand Surgery, Radboud University [Nijmegen], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Hospices Civils de Lyon (HCL), Institut NeuroMyoGène (INMG), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Lipides - Nutrition - Cancer [Dijon - U1231] (LNC), Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Agro Dijon, Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro)-Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro), CHU Pontchaillou [Rennes], Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), FHU TRANSLAD (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Cellules Souches, Plasticité Cellulaire, Médecine Régénératrice et Immunothérapies (IRMB), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Centre de recherche en neurosciences de Lyon - Lyon Neuroscience Research Center (CRNL), Université de Lyon-Université de Lyon-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Max Planck Institute for Psycholinguistics, Max-Planck-Gesellschaft, This work was financially supported by Aspasia grants of the Dutch Research Council (015.014.036 to T.K. and 015.014.066 to L.E.L.M.V.), Netherlands Organization for Health Research and Development (91718310 to T.K.), and the Max Planck Society (M.M.K.W., S.E.F.). Individual 4 was sequenced at the Scottish Genomes Partnership. The Scottish Genomes Partnership was funded by the Chief Scientist Office of the Scottish Government Health Directorates (SGP/1) and the Medical Research Council Whole Genome Sequencing for Health and Wealth Initiative (MC/PC/15080). The Deciphering Developmental Disorders study presents independent research commissioned by the Health Innovation Challenge Fund (grant number HICF-1009-003). This study makes use of Database of Chromosomal Imbalance and Phenotype in Humans using Ensembl Resources (https://www.deciphergenomics.org/), which is funded by Wellcome. See Deciphering Developmental Disorders study8 or https://www.ddduk.org/access.html for full acknowledgment., Institut Català de la Salut, [de Boer E, Dingemans AJM, Rots D] Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands. Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands. [Ockeloen CW] Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands. [Kampen RA] Language and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands. [Hampstead JE] Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands. Radboud Institute for Molecular Life Sciences, Radboudumc, Nijmegen, The Netherlands. [Lasa-Aranzasti A] Àrea de Genètica Clínica i Molecular, Vall d'Hebron Hospital Universitari, Barcelona, Spain. Grup de Recerca en Medicina Genètica, Vall d'Hebron Institut de Recerca (VHIR), Barcelona, Spain, and Vall d'Hebron Barcelona Hospital Campus

Subjects
Neuroinformatics, Proteasome Endopeptidase Complex, [SDV]Life Sciences [q-bio], fenómenos genéticos::variación genética::mutación::mutación de sentido erróneo [FENÓMENOS Y PROCESOS], Mutation, Missense, Genotype-phenotype study, enfermedades musculoesqueléticas::enfermedades óseas::enfermedades óseas del desarrollo [ENFERMEDADES], Ossos - Malalties - Aspectes genètics, ANKRD11, All institutes and research themes of the Radboud University Medical Center, Missense variants, Intellectual Disability, Other subheadings::Other subheadings::/genetics [Other subheadings], Humans, Genotype–phenotype study, Musculoskeletal Diseases::Bone Diseases::Bone Diseases, Developmental [DISEASES], Abnormalities, Multiple, Genetics (clinical), [SDV.GEN]Life Sciences [q-bio]/Genetics, Bone Diseases, Developmental, Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Congenital Abnormalities::Stomatognathic System Abnormalities::Tooth Abnormalities [DISEASES], Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Otros calificadores::Otros calificadores::/genética [Otros calificadores], Tooth Abnormalities, Neurodevelopmental disorders, Facies, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], KBG syndrome, Repressor Proteins, Anomalies cromosòmiques, Phenotype, enfermedades y anomalías neonatales congénitas y hereditarias::anomalías congénitas::anomalías del sistema estomatognático::anomalías dentarias [ENFERMEDADES], Genetic Phenomena::Genetic Variation::Mutation::Mutation, Missense [PHENOMENA AND PROCESSES], Chromosome Deletion, Dents - Malformacions - Aspectes genètics, Transcription Factors
Abstract

KBG syndrome; Missense variants; Neurodevelopmental disorders Síndrome KBG; Variants de missense; Trastorns del neurodesenvolupament Síndrome KBG; Variantes de missense; Trastornos del neurodesarrollo Purpose Although haploinsufficiency of ANKRD11 is among the most common genetic causes of neurodevelopmental disorders, the role of rare ANKRD11 missense variation remains unclear. We characterized clinical, molecular, and functional spectra of ANKRD11 missense variants. Methods We collected clinical information of individuals with ANKRD11 missense variants and evaluated phenotypic fit to KBG syndrome. We assessed pathogenicity of variants through in silico analyses and cell-based experiments. Results We identified 20 unique, mostly de novo, ANKRD11 missense variants in 29 individuals, presenting with syndromic neurodevelopmental disorders similar to KBG syndrome caused by ANKRD11 protein truncating variants or 16q24.3 microdeletions. Missense variants significantly clustered in repression domain 2 at the ANKRD11 C-terminus. Of the 10 functionally studied missense variants, 6 reduced ANKRD11 stability. One variant caused decreased proteasome degradation and loss of ANKRD11 transcriptional activity. Conclusion Our study indicates that pathogenic heterozygous ANKRD11 missense variants cause the clinically recognizable KBG syndrome. Disrupted transrepression capacity and reduced protein stability each independently lead to ANKRD11 loss-of-function, consistent with haploinsufficiency. This highlights the diagnostic relevance of ANKRD11 missense variants, but also poses diagnostic challenges because the KBG-associated phenotype may be mild and inherited pathogenic ANKRD11 (missense) variants are increasingly observed, warranting stringent variant classification and careful phenotyping.

Published
2022

6. Mouse model implicates GNB3 duplication in a childhood obesity syndrome

Author

Unique Rare Chromosome Disorder Support Group, Goldlust, Ian S., Hermetz, Karen E., Catalano, Lisa M., Barfield, Richard T., Cozad, Rebecca, Wynn, Grace, Ozdemir, Alev Cagla, Conneely, Karen N., Mulle, Jennifer G., Dharamrup, Shikha, Hegde, Madhuri R., Kim, Katherine H., Angle, Brad, Colley, Alison, Webb, Amy E., Thorland, Erik C., Ellison, Jay W., Rosenfeld, Jill A., Ballif, Blake C., Shaffer, Lisa G., Demmer, Laurie A., and Rudd, M. Katharine

Published
2013

7. WRN Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects

Author

Yokote, Koutaro, Chanprasert, Sirisak, Lee, Lin, Eirich, Katharina, Takemoto, Minoru, Watanabe, Aki, Koizumi, Naoko, Lessel, Davor, Mori, Takayasu, Hisama, Fuki M., Ladd, Paula D., Angle, Brad, Baris, Hagit, Cefle, Kivanc, Palanduz, Sukru, Ozturk, Sukru, Chateau, Antoinette, Deguchi, Kentaro, Easwar, T.K.M, Federico, Antonio, Fox, Amy, Grebe, Theresa A., Hay, Beverly, Nampoothiri, Sheela, Seiter, Karen, Streeten, Elizabeth, Piña‐Aguilar, Raul E., Poke, Gemma, Poot, Martin, Posmyk, Renata, Martin, George M., Kubisch, Christian, Schindler, Detlev, and Oshima, Junko

Published
2017
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9. Pathogenic variants in TNRC6B cause a genetic disorder characterised by developmental delay/intellectual disability and a spectrum of neurobehavioural phenotypes including autism and ADHD

Author

Granadillo, Jorge Luis, P.A. Stegmann, Alexander, Guo, Hui, Xia, K., Angle, Brad, Bontempo, Kelly, Pfundt, R.P., Rosenfeld, J.A., Shinawi, M., Granadillo, Jorge Luis, P.A. Stegmann, Alexander, Guo, Hui, Xia, K., Angle, Brad, Bontempo, Kelly, Pfundt, R.P., Rosenfeld, J.A., and Shinawi, M.

Abstract

Contains fulltext : 226271.pdf (Publisher’s version ) (Closed access)

Published
2020

10. Application of a severity framework to 176 genes on an expanded carrier screening panel

Author

Arjunan, Aishwarya, Bellerose, Holly, Johansen Taber, Katherine, Torres, Raul, Hoffman, Jodi D., Angle, Brad, Slotnik, Robert Nathan, Simpson, Brittany N., Lewis, Andrea M., Magoulas, Pilar L., Bontempo, Kelly, Schulze, Jeanine, Tarpinian, Jennifer, Bucher, Jessica A., Dineen, Richard, Goetsch, Allison, and Lazarin, Gabriel

Subjects
macromolecular substances
Abstract

Background Disease severity is considered to be an important factor for inclusion of diseases on expanded carrier screening (ECS) panels. Evaluating severity requires an objective, systematic method. Here, we applied a validated algorithm that objectively categorizes disease severity into one of four categories-profound, severe, moderate, and mild-to 176 genes on a clinically available ECS panel. Methods Eight genetic counselors (GCs) working in pairs, followed by four medical geneticists (MDs) working in pairs, applied the algorithm to subsets of the 176 genes. Results Upon initial GC and MD review, 107/176 genes (61%) and 133/176 genes (76%), respectively, had concordant classifications, with consensus reached for all genes after collaborative review. Final severity classifications were 68 (39%) profound, 71 (40%) severe, 36 (20%) moderate, and one (1%) mild. No classification biases were detected within the GC or MD pairs. Conclusion This study illustrates an approach to severity classification for large sets of Mendelian genes. The observed level of initial discordance demonstrates the complexity of severity and underscores the importance of collaboration involving multiple clinicians. Severity classification, in addition to other factors suggested by ACOG, is an important factor for laboratories to consider as they aim to design clinically valid ECS panels.

Published
2019
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11. Fibulin-4: A novel gene for an autosomal recessive cutis laxa syndrome

Author

Hucthagowder, Vishwanathan, Sausgruber, Nina, Kim, Katherine H., Angle, Brad, Marmorstein, Lihua Y., and Urban, Zsolt

Subjects
Cutis laxa -- Genetic aspects, Gene mutations -- Research, Fibula -- Genetic aspects, Biological sciences
Abstract

A patient was identified with recessive inheritance of a missense mutation in the Fibulin-4 gene, who had multiple bone fractures at birth and was diagnosed with cutis laxa, vascular tortuosity, ascending aortic aneurysm, developmental emphysema, inguinal and diaphragmatic hernia, joint laxity and pectus excavatum by age 2 years. The findings concluded that Fibulin-4 is necessary for elastic fibre formation and connective tissue development.

Published
2006

12. Missense variants in ANKRD11cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein

Author

de Boer, Elke, Ockeloen, Charlotte W., Kampen, Rosalie A., Hampstead, Juliet E., Dingemans, Alexander J.M., Rots, Dmitrijs, Lütje, Lukas, Ashraf, Tazeen, Baker, Rachel, Barat-Houari, Mouna, Angle, Brad, Chatron, Nicolas, Denommé-Pichon, Anne-Sophie, Devinsky, Orrin, Dubourg, Christèle, Elmslie, Frances, Elloumi, Houda Zghal, Faivre, Laurence, Fitzgerald-Butt, Sarah, Geneviève, David, Goos, Jacqueline A.C., Helm, Benjamin M., Kini, Usha, Lasa-Aranzasti, Amaia, Lesca, Gaetan, Lynch, Sally A., Mathijssen, Irene M.J., McGowan, Ruth, Monaghan, Kristin G., Odent, Sylvie, Pfundt, Rolph, Putoux, Audrey, van Reeuwijk, Jeroen, Santen, Gijs W.E., Sasaki, Erina, Sorlin, Arthur, van der Spek, Peter J., Stegmann, Alexander P.A., Swagemakers, Sigrid M.A., Valenzuela, Irene, Viora-Dupont, Eléonore, Vitobello, Antonio, Ware, Stephanie M., Wéber, Mathys, Gilissen, Christian, Low, Karen J., Fisher, Simon E., Vissers, Lisenka E.L.M., Wong, Maggie M.K., and Kleefstra, Tjitske

Abstract

Although haploinsufficiency of ANKRD11is among the most common genetic causes of neurodevelopmental disorders, the role of rare ANKRD11missense variation remains unclear. We characterized clinical, molecular, and functional spectra of ANKRD11missense variants.

Published
2022
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13. Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants

Author

Girirajan, Santhosh, Rosenfeld, Jill A., Coe, Bradley P., Parikh, Sumit, Friedman, Neil, Goldstein, Amy, Filipink, Robyn A., McConnell, Juliann S., Angle, Brad, Meschino, Wendy S., Nezarati, Marjan M., Asamoah, Alexander, Jackson, Kelly E., Gowans, Gordon C., Martin, Judith A., Carmany, Erin P., Stockton, David W., Schnur, Rhonda E., Penney, Lynette S., Martin, Donna M., Raskin, Salmo, Leppig, Kathleen, Thiese, Heidi, Smith, Rosemarie, Aberg, Erika, Niyazov, Dmitriy M., Escobar, Luis F., El-Khechen, Dima, Johnson, Kisha D., Lebel, Robert R., Siefkas, Kiana, Ball, Susie, Shur, Natasha, McGuire, Marianne, Brasington, Campbell K., Spence, J. Edward, Martin, Laura S., Clericuzio, Carol, Ballif, Blake C., Shaffer, Lisa G., and Eichler, Evan E.

Published
2012
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15. Mutations in PPIB (cyclophilin B) delay type I procollagen chain association and result in perinatal lethal to moderate osteogenesis imperfecta phenotypes

Author

Pyott, Shawna M., Schwarze, Ulrike, Christiansen, Helena E., Pepin, Melanie G., Leistritz, Dru F., Dineen, Richard, Harris, Catharine, Burton, Barbara K., Angle, Brad, Kim, Katherine, Sussman, Michael D., Weis, MaryAnn, Eyre, David R., Russell, David W., McCarthy, Kevin J., Steiner, Robert D., and Byers, Peter H.

Published
2011
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16. Evaluation and classification of severity for 176 genes on an expanded carrier screening panel

Author

Arjunan, Aishwarya, primary, Bellerose, Holly, additional, Torres, Raul, additional, Ben‐Shachar, Rotem, additional, Hoffman, Jodi D., additional, Angle, Brad, additional, Slotnick, Robert Nathan, additional, Simpson, Brittany N., additional, Lewis, Andrea M., additional, Magoulas, Pilar L., additional, Bontempo, Kelly, additional, Schulze, Jeanine, additional, Tarpinian, Jennifer, additional, Bucher, Jessica A., additional, Dineen, Richard, additional, Goetsch, Allison, additional, Lazarin, Gabriel A., additional, and Johansen Taber, Katherine, additional

Published
2020
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17. Pathogenic variants in TNRC6B cause a genetic disorder characterised by developmental delay/intellectual disability and a spectrum of neurobehavioural phenotypes including autism and ADHD

Author

Granadillo, Jorge Luis, primary, P.A. Stegmann, Alexander, additional, Guo, Hui, additional, Xia, Kun, additional, Angle, Brad, additional, Bontempo, Kelly, additional, Ranells, Judith D, additional, Newkirk, Patricia, additional, Costin, Carrie, additional, Viront, Joleen, additional, Stumpel, Constanze T, additional, Sinnema, Margje, additional, Panis, Bianca, additional, Pfundt, Rolph, additional, Krapels, Ingrid P C, additional, Klaassens, Merel, additional, Nicolai, Joost, additional, Li, Jinliang, additional, Jiang, Yuwu, additional, Marco, Elysa, additional, Canton, Ana, additional, Latronico, Ana Claudia, additional, Montenegro, Luciana, additional, Leheup, Bruno, additional, Bonnet, Celine, additional, M. Amudhavalli, Shivarajan, additional, Lawson, Caitlin E, additional, McWalter, Kirsty, additional, Telegrafi, Aida, additional, Pearson, Richard, additional, Kvarnung, Malin, additional, Wang, Xia, additional, Bi, Weimin, additional, Rosenfeld, Jill Anne, additional, and Shinawi, Marwan, additional

Published
2020
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18. Evaluation and classification of severity for 176 genes on an expanded carrier screening panel

Author

Arjunan, Aishwarya, primary, Bellerose, Holly, additional, Torres, Raul, additional, Ben-Shachar, Rotem, additional, Hoffman, Jodi D., additional, Angle, Brad, additional, Slotnick, Robert Nathan, additional, Simpson, Brittany N., additional, Lewis, Andrea M., additional, Magoulas, Pilar L., additional, Bontempo, Kelly, additional, Schulze, Jeanine, additional, Tarpinian, Jennifer, additional, Bucher, Jessica A, additional, Dineen, Richard, additional, Goetsch, Allison, additional, Lazarin, Gabriel A., additional, and Taber, Katherine Johansen, additional

Published
2019
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19. FIRESTORM: "We never, ever, ever expected it to get that type of response.".

Author

ANGLE, BRAD

Abstract

The seed for Body Count was planted when Ice-T tapped Ernie C and their high-school crew to play on some of his rap records, including the song "Body Count" from Ice's acclaimed 1991 album O.G. Original Gangster. Ahead of Body Count's 30th birthday, we caught up with Ernie C for a wide-ranging interview about his personal guitar history and the exciting, chaotic times surrounding the creation of Body's Count's seminal self-titled record. The South Central crew, led by rapper Ice-T and guitarist Ernie C, expected to turn some heads with their hardcore-meets- heavy metal songs that fiercely confronted political and social issues. WE WERE TOTALLY UNPREPARED FOR THAT BACKLASH" ICE-T [from left] Body Count's Vincent Price, Ernie C (playing a wet Schecter Hellraiser) and Ice-T at the 2014 Rockstar Energy Drink Mayhem Festival in Atlanta "I WANTED IT TO SOUND LIKE METALLICA's RECORDS. [Extracted from the article]

Published
2022

20. FREE FOR ALL.

Author

ANGLE, BRAD

Abstract

Social-distancing mandates forced McLaughlin to record the entire album remotely. Liberation Time stands as a testament to the power of that spiritual connection - and to McLaughlin's still-stunning technical prowess and expressive six-string abilities. When the jazz-fusion great wasn't practicing guitar, McLaughlin would combat his cabin fever by taking a spin on his bike. In the wide-ranging interview below, McLaughlin opens up about the unique process of creating Liberation Time, how he maintains his prodigious guitar chops, the role spirituality plays in improvisation and much more. [Extracted from the article]

Published
2022

21. 2021 NEWS OF THE (GUITAR) WORLD.

Author

ANGLE, BRAD, Astley-Brown, Michael, Bienstock, Richard, Horsley, Jonathan, Maxwell, Jackson, Owen, Matt, Parker, Matt, and Roche, Sam

Published
2022

26. WRN Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects: HUMAN MUTATION

Author

Lessel, Davor, Lee, Lin, Palanduz, Sukru, Poke, Gemma, Yokote, Koutaro, Chateau, Antoinette, Angle, Brad, Schindler, Detlev, Posmyk, Renata, Cefle, Kivanc, Hay, Beverly, Watanabe, Aki, Deguchi, Kentaro, Nampoothiri, Sheela, Easwar, Baris, Hagit, Takemoto, Minoru, Ozturk, Sukru, Grebe, Theresa A., Koizumi, Naoko, Martin, George M., Kubisch, Christian, Eirich, Katharina, Mori, Takayasu, Ladd, Paula D., Oshima, Junko, Fox, Amy, Federico, Antonio, Streeten, Elizabeth, Chanprasert, Sirisak, Poot, Martin, Hisama, Fuki M., Seiter, Karen, and Piña-Aguilar, Raul E.

Subjects
congenital, hereditary, and neonatal diseases and abnormalities, nutritional and metabolic diseases
Abstract

Werner syndrome (WS) is a rare autosomal recessive disorder characterized by a constellation of adult onset phenotypes consistent with an acceleration of intrinsic biological aging. It is caused by pathogenic variants in the WRN gene, which encodes a multifunctional nuclear protein with exonuclease and helicase activities. WRN protein is thought to be involved in optimization of various aspects of DNA metabolism, including DNA repair, recombination, replication, and transcription. In this update, we summarize a total of 83 different WRN mutations, including eight previously unpublished mutations identified by the International Registry of Werner Syndrome (Seattle, WA) and the Japanese Werner Consortium (Chiba, Japan), as well as 75 mutations already reported in the literature. The Seattle International Registry recruits patients from all over the world to investigate genetic causes of a wide variety of progeroid syndromes in order to contribute to the knowledge of basic mechanisms of human aging. Given the unusually high prevalence of WS patients and heterozygous carriers in Japan, the major goal of the Japanese Consortium is to develop effective therapies and to establish management guidelines for WS patients in Japan and elsewhere. This review will also discuss potential translational approaches to this disorder, including those currently under investigation.

Published
2017
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28. GOJIRA.

Author

Angle, Brad

Published
2021

30. Cover Image, Volume 176A, Number 4, April 2018

Author

Zarate, Yuri A., primary, Smith-Hicks, Constance L., additional, Greene, Carol, additional, Abbott, Mary-Alice, additional, Siu, Victoria M., additional, Calhoun, Amy R. U. L., additional, Pandya, Arti, additional, Li, Chumei, additional, Sellars, Elizabeth A., additional, Kaylor, Julie, additional, Bosanko, Katherine, additional, Kalsner, Louisa, additional, Basinger, Alice, additional, Slavotinek, Anne M., additional, Perry, Hazel, additional, Saenz, Margarita, additional, Szybowska, Marta, additional, Wilson, Louise C., additional, Kumar, Ajith, additional, Brain, Caroline, additional, Balasubramanian, Meena, additional, Dubbs, Holly, additional, Ortiz-Gonzalez, Xilma R., additional, Zackai, Elaine, additional, Stein, Quinn, additional, Powell, Cynthia M., additional, Schrier Vergano, Samantha, additional, Britt, Allison, additional, Sun, Angela, additional, Smith, Wendy, additional, Bebin, E. Martina, additional, Picker, Jonathan, additional, Kirby, Amelia, additional, Pinz, Hailey, additional, Bombei, Hannah, additional, Mahida, Sonal, additional, Cohen, Julie S., additional, Fatemi, Ali, additional, Vernon, Hilary J., additional, McClellan, Rebecca, additional, Fleming, Leah R., additional, Knyszek, Brittney, additional, Steinraths, Michelle, additional, Velasco Gonzalez, Cruz, additional, Beck, Anita E., additional, Golden-Grant, Katie L., additional, Egense, Alena, additional, Parikh, Aditi, additional, Raimondi, Chantalle, additional, Angle, Brad, additional, Allen, William, additional, Schott, Suzanna, additional, Algrabli, Adi, additional, Robin, Nathaniel H., additional, Ray, Joseph W., additional, Everman, David B., additional, Gambello, Michael J., additional, and Chung, Wendy K., additional

Published
2018
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31. Natural history and genotype‐phenotype correlations in 72 individuals with SATB2 ‐associated syndrome

Author

Zarate, Yuri A., primary, Smith‐Hicks, Constance L., additional, Greene, Carol, additional, Abbott, Mary‐Alice, additional, Siu, Victoria M., additional, Calhoun, Amy R. U. L., additional, Pandya, Arti, additional, Li, Chumei, additional, Sellars, Elizabeth A., additional, Kaylor, Julie, additional, Bosanko, Katherine, additional, Kalsner, Louisa, additional, Basinger, Alice, additional, Slavotinek, Anne M., additional, Perry, Hazel, additional, Saenz, Margarita, additional, Szybowska, Marta, additional, Wilson, Louise C., additional, Kumar, Ajith, additional, Brain, Caroline, additional, Balasubramanian, Meena, additional, Dubbs, Holly, additional, Ortiz‐Gonzalez, Xilma R., additional, Zackai, Elaine, additional, Stein, Quinn, additional, Powell, Cynthia M., additional, Schrier Vergano, Samantha, additional, Britt, Allison, additional, Sun, Angela, additional, Smith, Wendy, additional, Bebin, E. Martina, additional, Picker, Jonathan, additional, Kirby, Amelia, additional, Pinz, Hailey, additional, Bombei, Hannah, additional, Mahida, Sonal, additional, Cohen, Julie S., additional, Fatemi, Ali, additional, Vernon, Hilary J., additional, McClellan, Rebecca, additional, Fleming, Leah R., additional, Knyszek, Brittney, additional, Steinraths, Michelle, additional, Velasco Gonzalez, Cruz, additional, Beck, Anita E., additional, Golden‐Grant, Katie L., additional, Egense, Alena, additional, Parikh, Aditi, additional, Raimondi, Chantalle, additional, Angle, Brad, additional, Allen, William, additional, Schott, Suzanna, additional, Algrabli, Adi, additional, Robin, Nathaniel H., additional, Ray, Joseph W., additional, Everman, David B., additional, Gambello, Michael J., additional, and Chung, Wendy K., additional

Published
2018
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32. WRN Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects

Author

Yokote, Koutaro, Chanprasert, Sirisak, Lee, Lin, Eirich, Katharina, Takemoto, Minoru, Watanabe, Aki, Koizumi, Naoko, Lessel, Davor, Mori, Takayasu, Hisama, Fuki M., Ladd, Paula D., Angle, Brad, Baris, Hagit, Cefle, Kivanc, Palanduz, Sukru, Ozturk, Sukru, Chateau, Antoinette, Deguchi, Kentaro, Easwar, T.K.M, Federico, Antonio, Fox, Amy, Grebe, Theresa A., Hay, Beverly, Nampoothiri, Sheela, Seiter, Karen, Streeten, Elizabeth, Piña-Aguilar, Raul E., Poke, Gemma, Poot, Martin, Posmyk, Renata, Martin, George M., Kubisch, Christian, Schindler, Detlev, and Oshima, Junko

Subjects
congenital, hereditary, and neonatal diseases and abnormalities, Polymorphism, Genetic, Werner Syndrome Helicase, Geography, Age Factors, nutritional and metabolic diseases, Exons, Web Browser, Polymorphism, Single Nucleotide, Article, Translational Research, Biomedical, Disease Models, Animal, Mice, Phenotype, Gene Frequency, Japan, Databases, Genetic, Mutation, Animals, Humans, Genetic Predisposition to Disease, Registries, Werner Syndrome, Genetic Association Studies
Abstract

Werner syndrome (WS) is a rare autosomal recessive disorder characterized by a constellation of adult onset phenotypes consistent with an acceleration of intrinsic biological aging. It is caused by pathogenic variants in the WRN gene, which encodes a multifunctional nuclear protein with exonuclease and helicase activities. WRN protein is thought to be involved in optimization of various aspects of DNA metabolism, including DNA repair, recombination, replication, and transcription. In this update, we summarize a total of 83 different WRN mutations, including eight previously unpublished mutations identified by the International Registry of Werner Syndrome (Seattle, WA) and the Japanese Werner Consortium (Chiba, Japan), as well as 75 mutations already reported in the literature. The Seattle International Registry recruits patients from all over the world to investigate genetic causes of a wide variety of progeroid syndromes in order to contribute to the knowledge of basic mechanisms of human aging. Given the unusually high prevalence of WS patients and heterozygous carriers in Japan, the major goal of the Japanese Consortium is to develop effective therapies and to establish management guidelines for WS patients in Japan and elsewhere. This review will also discuss potential translational approaches to this disorder, including those currently under investigation.

Published
2016

33. Further delineation of the KAT6B molecular and phenotypic spectrum

Author

DDD study, Gannon, Tamsin, Perveen, Rahat, Schlecht, Hélene, Ramsden, Simon, Anderson, Beverley, Kerr, Bronwyn, Day, Ruth, Banka, Siddharth, Suri, Mohnish, Berland, Siren, Gabbett, Michael, Ma, Alan, Lyonnet, Stan, Cormier-Daire, Valerie, Yilmaz, Rüstem, Borck, Guntram, Wieczorek, Dagmar, Anderlid, Britt-Marie, Smithson, Sarah, Vogt, Julie, Moore-Barton, Heather, Simsek-Kiper, Pelin Ozlem, Maystadt, Isabelle, Destrée, Anne, Bucher, Jessica, Angle, Brad, Mohammed, Shehla, Wakeling, Emma, Price, Sue, Singer, Amihood, Sznajer, Yves, Toutain, Annick, Haye, Damien, Newbury-Ecob, Ruth, Fradin, Melanie, McGaughran, Julie, Tuysuz, Beyhan, Tein, Mark, Bouman, Katelijne, Dabir, Tabib, Van den Ende, Jenneke, Luk, Ho Ming, Pilz, Daniela T, Eason, Jacqueline, Davies, Sally, Reardon, Willie, Garavelli, Livia, Zuffardi, Orsetta, Devriendt, Koen, Armstrong, Ruth, Johnson, Diana, Doco-Fenzy, Martine, Bijlsma, Emilia, Unger, Sheila, Veenstra-Knol, Hermine E, Kohlhase, Jürgen, Lo, Ivan FM, Smith, Janine, Clayton-Smith, Jill, Regional Genetic Service, St Mary's Hospital, Manchester, Clinical Genetics Service, Nottingham University Hospitals NHS Trust, Haukeland University Hospital, Royal Brsibane and Womens' Hospital, The University of Queensland, Department of Clinical Genetics, Children’s Hospital at Westmead, Service de génétique médicale, AP-HP Hôpital Necker - Enfants Malades [Paris], Institute of Human Genetics, Universität Ulm, Institut für Humangenetik [Essen], Universitätsklinikum Essen, Karolinska University Hospital, Karolinska University Hospital [Stockholm], University Hospitals Bristol, University of Birmingham [Birmingham], Hacettepe University Children's Hospital, Centre de Génétique Humaine, Institut de Pathologie et de Génétique, Division of Genetics, Birth Defects and Metabolism, Children's hospital of Chicago, Clinical Genetics, Guy's Hospital [London], North West london hospitals NHS Trust, Department of Clinical Genetics, Northampton General Hospital, Northampton, Barzilai Medical Center, Cliniques Universitaires St Luc, Université Catholique de Louvain (UCL), Service de génétique [Tours], Hôpital Bretonneau - CHRU Tours, Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes 1 (UR1) - Centre National de la Recherche Scientifique (CNRS) - Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Service de génétique clinique [Rennes], Université de Rennes 1 (UR1) - CHU Pontchaillou [Rennes] - Hôpital Sud, Pediatrics, Istanbul University Cerrahpasa, Birmingham Women’s Hospital, University of Groningen [Groningen], Belfast City Hospital, Centre For Medical Genetics, Clinical Genetic Service, Department of Health, Institute of Medical Genetics, Heath Park, Cardiff, National Centre for Medical Genetics, Our Lady's Children's Hospital, Crumlin OLCHC, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Fondazione 'Istituto Neurologico Nazionale C. Mondino', Dipartimento di Medicina Molecolare, University of Pavia, UZ Leuven - campus Gasthuisberg, East Anglian Medical Genetics Service, Cytogenetics Laboratory, Addenbrooke's Hospital, Sheffield Children’s Hospital, Service de Génétique, CHU Reims - Hôpital Maison Blanche - IFR 53, Leiden University Medical Center, Service de Génétique humaine, Université de Lausanne (UNIL), Çocuk Sağlığı ve Hastalıkları, University of Bergen (UiB), Westmead Hospital [Sydney], CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Universität Ulm - Ulm University [Ulm, Allemagne], Institute of Human Genetics - Institut für Humangenetik [Essen], Universitätsklinikum Essen [Universität Duisburg-Essen] (Uniklinik Essen)-Universitat Duisberg-Essen, Cliniques Universitaires Saint-Luc [Bruxelles], Centre Hospitalier Régional Universitaire de Tours (CHRU Tours)-Hôpital Bretonneau, Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-CHU Pontchaillou [Rennes]-hôpital Sud, Sheffield Children's NHS Foundation Trust, Centre Hospitalier Universitaire de Reims (CHU Reims)-Hôpital Maison Blanche-IFR 53, Université de Reims Champagne-Ardenne (URCA)-Université de Reims Champagne-Ardenne (URCA), Leiden University Medical Center (LUMC), UCL - SSS/IREC - Institut de recherche expérimentale et clinique, UCL - (SLuc) Centre de génétique médicale UCL, Nottingham University Hospitals NHS Trust (NUH), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Université de Rennes (UR)-CHU Pontchaillou [Rennes]-hôpital Sud, Università degli Studi di Pavia = University of Pavia (UNIPV), Universiteit Leiden-Universiteit Leiden, Université de Lausanne = University of Lausanne (UNIL), DDD study, and Hôpital Bretonneau-Centre Hospitalier Régional Universitaire de Tours (CHRU Tours)

Subjects
Male, DNA Mutational Analysis, Medizin, Gene Expression, Kidney, Severity of Illness Index, Craniofacial Abnormalities, Missense mutation, Exome, Genetics (clinical), Histone Acetyltransferases, Genetics, OHDO SYNDROME, Patella, Exons, Hypotonia, 3. Good health, Blepharophimosis/diagnosis, Blepharophimosis/genetics, Child, Preschool, Congenital Hypothyroidism/diagnosis, Congenital Hypothyroidism/genetics, Craniofacial Abnormalities/diagnosis, Craniofacial Abnormalities/genetics, Diagnosis, Differential, Facies, Female, Genetic Association Studies, Genotype, Heart Defects, Congenital/diagnosis, Heart Defects, Congenital/genetics, Histone Acetyltransferases/genetics, Humans, Intellectual Disability/diagnosis, Intellectual Disability/genetics, Joint Instability/diagnosis, Joint Instability/genetics, Kidney/abnormalities, Kidney/pathology, Mutation, Patella/abnormalities, Patella/pathology, Phenotype, Psychomotor Disorders/diagnosis, Psychomotor Disorders/genetics, Scrotum/abnormalities, Scrotum/pathology, Urogenital Abnormalities/diagnosis, Urogenital Abnormalities/genetics, Scrotum, Medical genetics, genitopatellar, Say-Barber-Biesecker, medicine.symptom, Psychomotor disorder, Haploinsufficiency, Heart Defects, Congenital, Joint Instability, medicine.medical_specialty, Biology, Blepharophimosis, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, KAT6B, Article, Intellectual Disability, medicine, Congenital Hypothyroidism, CAUSE GENITOPATELLAR SYNDROME, medicine.disease, blepharophimosis, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, DE-NOVO MUTATIONS, Urogenital Abnormalities, Genitopatellar syndrome, HISTONE ACETYLTRANSFERASE KAT6B, Psychomotor Disorders, MENTAL-RETARDATION
Abstract

International audience; KAT6B sequence variants have been identified previously in both patients with the Say-Barber-Biesecker type of blepharophimosis mental retardation syndromes (SBBS) and in the more severe genitopatellar syndrome (GPS). We report on the findings in a previously unreported group of 57 individuals with suggestive features of SBBS or GPS. Likely causative variants have been identified in 34/57 patients and were commonly located in the terminal exons of KAT6B. Of those where parental samples could be tested, all occurred de novo. Thirty out of thirty-four had truncating variants, one had a missense variant and the remaining three had the same synonymous change predicted to affect splicing. Variants in GPS tended to occur more proximally to those in SBBS patients, and genotype/phenotype analysis demonstrated significant clinical overlap between SBBS and GPS. The de novo synonymous change seen in three patients with features of SBBS occurred more proximally in exon 16. Statistical analysis of clinical features demonstrated that KAT6B variant-positive patients were more likely to display hypotonia, feeding difficulties, long thumbs/great toes and dental, thyroid and patella abnormalities than KAT6B variant-negative patients. The few reported patients with KAT6B haploinsufficiency had a much milder phenotype, though with some features overlapping those of SBBS. We report the findings in a previously unreported patient with a deletion of the KAT6B gene to further delineate the haploinsufficiency phenotype. The molecular mechanisms giving rise to the SBBS and GPS phenotypes are discussed.

Published
2015

35. Pathogenic variants in TNRC6Bcause a genetic disorder characterised by developmental delay/intellectual disability and a spectrum of neurobehavioural phenotypes including autism and ADHD

Author

Granadillo, Jorge Luis, P.A. Stegmann, Alexander, Guo, Hui, Xia, Kun, Angle, Brad, Bontempo, Kelly, Ranells, Judith D, Newkirk, Patricia, Costin, Carrie, Viront, Joleen, Stumpel, Constanze T, Sinnema, Margje, Panis, Bianca, Pfundt, Rolph, Krapels, Ingrid P C, Klaassens, Merel, Nicolai, Joost, Li, Jinliang, Jiang, Yuwu, Marco, Elysa, Canton, Ana, Latronico, Ana Claudia, Montenegro, Luciana, Leheup, Bruno, Bonnet, Celine, M. Amudhavalli, Shivarajan, Lawson, Caitlin E, McWalter, Kirsty, Telegrafi, Aida, Pearson, Richard, Kvarnung, Malin, Wang, Xia, Bi, Weimin, Rosenfeld, Jill Anne, and Shinawi, Marwan

Abstract

BackgroundRare variants in hundreds of genes have been implicated in developmental delay (DD), intellectual disability (ID) and neurobehavioural phenotypes. TNRC6Bencodes a protein important for RNA silencing. Heterozygous truncating variants have been reported in three patients from large cohorts with autism, but no full phenotypic characterisation was described.MethodsClinical and molecular characterisation was performed on 17 patients with TNRC6Bvariants. Clinical data were obtained by retrospective chart review, parent interviews, direct patient interaction with providers and formal neuropsychological evaluation.ResultsClinical findings included DD/ID (17/17) (speech delay in 94% (16/17), fine motor delay in 82% (14/17) and gross motor delay in 71% (12/17) of subjects), autism or autistic traits (13/17), attention deficit and hyperactivity disorder (ADHD) (11/17), other behavioural problems (7/17) and musculoskeletal findings (12/17). Other congenital malformations or clinical findings were occasionally documented. The majority of patients exhibited some dysmorphic features but no recognisable gestalt was identified. 17 heterozygous TNRC6Bvariants were identified in 12 male and five female unrelated subjects by exome sequencing (14), a targeted panel (2) and a chromosomal microarray (1). The variants were nonsense (7), frameshift (5), splice site (2), intragenic deletions (2) and missense (1).ConclusionsVariants in TNRC6Bcause a novel genetic disorder characterised by recurrent neurocognitive and behavioural phenotypes featuring DD/ID, autism, ADHD and other behavioural abnormalities. Our data highly suggest that haploinsufficiency is the most likely pathogenic mechanism. TNRC6Bshould be added to the growing list of genes of the RNA-induced silencing complex associated with ID/DD, autism and ADHD.

Published
2020
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37. WRNMutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects

Author

Yokote, Koutaro, primary, Chanprasert, Sirisak, additional, Lee, Lin, additional, Eirich, Katharina, additional, Takemoto, Minoru, additional, Watanabe, Aki, additional, Koizumi, Naoko, additional, Lessel, Davor, additional, Mori, Takayasu, additional, Hisama, Fuki M., additional, Ladd, Paula D., additional, Angle, Brad, additional, Baris, Hagit, additional, Cefle, Kivanc, additional, Palanduz, Sukru, additional, Ozturk, Sukru, additional, Chateau, Antoinette, additional, Deguchi, Kentaro, additional, Easwar, T.K.M, additional, Federico, Antonio, additional, Fox, Amy, additional, Grebe, Theresa A., additional, Hay, Beverly, additional, Nampoothiri, Sheela, additional, Seiter, Karen, additional, Streeten, Elizabeth, additional, Piña-Aguilar, Raul E., additional, Poke, Gemma, additional, Poot, Martin, additional, Posmyk, Renata, additional, Martin, George M., additional, Kubisch, Christian, additional, Schindler, Detlev, additional, and Oshima, Junko, additional

Published
2016
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39. Whole exome sequencing reveals de novo pathogenic variants inKAT6Aas a cause of a neurodevelopmental disorder

Author

Millan, Francisca, primary, Cho, Megan T., additional, Retterer, Kyle, additional, Monaghan, Kristin G., additional, Bai, Renkui, additional, Vitazka, Patrik, additional, Everman, David B., additional, Smith, Brooke, additional, Angle, Brad, additional, Roberts, Victoria, additional, Immken, LaDonna, additional, Nagakura, Honey, additional, DiFazio, Marc, additional, Sherr, Elliott, additional, Haverfield, Eden, additional, Friedman, Bethany, additional, Telegrafi, Aida, additional, Juusola, Jane, additional, Chung, Wendy K., additional, and Bale, Sherri, additional

Published
2016
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40. Further delineation of the KAT6B molecular and phenotypic spectrum

Author

UCL - SSS/IREC - Institut de recherche expérimentale et clinique, UCL - (SLuc) Centre de génétique médicale UCL, Gannon, Tamsin, Perveen, Rahat, Schlecht, Hélene, Ramsden, Simon, Anderson, Beverley, Kerr, Bronwyn, Day, Ruth, Banka, Siddharth, Suri, Mohnish, Berland, Siren, Gabbett, Michael, Ma, Alan, Lyonnet, Stan, Cormier-Daire, Valerie, Yilmaz, Rüstem, Borck, Guntram, Wieczorek, Dagmar, Anderlid, Britt-Marie, Smithson, Sarah, Vogt, Julie, Moore-Barton, Heather, Simsek-Kiper, Pelin Ozlem, Maystadt, Isabelle, Destrée, Anne, Bucher, Jessica, Angle, Brad, Mohammed, Shehla, Wakeling, Emma, Price, Sue, Singer, Amihood, Sznajer, Yves, Toutain, Annick, Haye, Damien, Newbury-Ecob, Ruth, Fradin, Melanie, McGaughran, Julie, Tuysuz, Beyhan, Tein, Mark, Bouman, Katelijne, Dabir, Tabib, Van den Ende, Jenneke, Luk, Ho Ming, Pilz, Daniela T, Eason, Jacqueline, Davies, Sally, Reardon, Willie, Garavelli, Livia, Zuffardi, Orsetta, Devriendt, Koen, Armstrong, Ruth, Johnson, Diana, Doco-Fenzy, Martine, Bijlsma, Emilia, Unger, Sheila, Veenstra-Knol, Hermine E, Kohlhase, Jürgen, Lo, Ivan F M, Smith, Janine, Clayton-Smith, Jill, UCL - SSS/IREC - Institut de recherche expérimentale et clinique, UCL - (SLuc) Centre de génétique médicale UCL, Gannon, Tamsin, Perveen, Rahat, Schlecht, Hélene, Ramsden, Simon, Anderson, Beverley, Kerr, Bronwyn, Day, Ruth, Banka, Siddharth, Suri, Mohnish, Berland, Siren, Gabbett, Michael, Ma, Alan, Lyonnet, Stan, Cormier-Daire, Valerie, Yilmaz, Rüstem, Borck, Guntram, Wieczorek, Dagmar, Anderlid, Britt-Marie, Smithson, Sarah, Vogt, Julie, Moore-Barton, Heather, Simsek-Kiper, Pelin Ozlem, Maystadt, Isabelle, Destrée, Anne, Bucher, Jessica, Angle, Brad, Mohammed, Shehla, Wakeling, Emma, Price, Sue, Singer, Amihood, Sznajer, Yves, Toutain, Annick, Haye, Damien, Newbury-Ecob, Ruth, Fradin, Melanie, McGaughran, Julie, Tuysuz, Beyhan, Tein, Mark, Bouman, Katelijne, Dabir, Tabib, Van den Ende, Jenneke, Luk, Ho Ming, Pilz, Daniela T, Eason, Jacqueline, Davies, Sally, Reardon, Willie, Garavelli, Livia, Zuffardi, Orsetta, Devriendt, Koen, Armstrong, Ruth, Johnson, Diana, Doco-Fenzy, Martine, Bijlsma, Emilia, Unger, Sheila, Veenstra-Knol, Hermine E, Kohlhase, Jürgen, Lo, Ivan F M, Smith, Janine, and Clayton-Smith, Jill

Abstract

KAT6B sequence variants have been identified previously in both patients with the Say-Barber-Biesecker type of blepharophimosis mental retardation syndromes (SBBS) and in the more severe genitopatellar syndrome (GPS). We report on the findings in a previously unreported group of 57 individuals with suggestive features of SBBS or GPS. Likely causative variants have been identified in 34/57 patients and were commonly located in the terminal exons of KAT6B. Of those where parental samples could be tested, all occurred de novo. Thirty out of thirty-four had truncating variants, one had a missense variant and the remaining three had the same synonymous change predicted to affect splicing. Variants in GPS tended to occur more proximally to those in SBBS patients, and genotype/phenotype analysis demonstrated significant clinical overlap between SBBS and GPS. The de novo synonymous change seen in three patients with features of SBBS occurred more proximally in exon 16. Statistical analysis of clinical features demonstrated that KAT6B variant-positive patients were more likely to display hypotonia, feeding difficulties, long thumbs/great toes and dental, thyroid and patella abnormalities than KAT6B variant-negative patients. The few reported patients with KAT6B haploinsufficiency had a much milder phenotype, though with some features overlapping those of SBBS. We report the findings in a previously unreported patient with a deletion of the KAT6B gene to further delineate the haploinsufficiency phenotype. The molecular mechanisms giving rise to the SBBS and GPS phenotypes are discussed.

Published
2015

41. Further delineation of the KAT6B molecular and phenotypic spectrum

Author

Gannon, Tamsin, Perveen, Rahat, Schlecht, Hélene, Ramsden, Simon, Anderson, Beverley, Kerr, Bronwyn, Day, Ruth, Banka, Siddharth, Suri, Mohnish, Berland, Siren, Gabbett, Michael, Ma, Alan, Lyonnet, Stan, Cormier-Daire, Valerie, Yilmaz, Rüstem, Borck, Guntram, Wieczorek, Dagmar, Anderlid, Britt Marie, Smithson, Sarah, Vogt, Julie, Moore-Barton, Heather, Simsek-Kiper, Pelin Ozlem, Maystadt, Isabelle, Destrée, Anne, Bucher, Jessica, Angle, Brad, Mohammed, Shehla, Wakeling, Emma, Price, Sue, Singer, Amihood, Sznajer, Yves, Toutain, Annick, Haye, Damien, Newbury-Ecob, Ruth, Fradin, Melanie, McGaughran, Julie, Tuysuz, Beyhan, Tein, Mark, Bouman, Katelijne, Dabir, Tabib, Van Den Ende, Jenneke, Luk, Ho Ming, Pilz, Daniela T., Eason, Jacqueline, Davies, Sally, Reardon, Willie, Garavelli, Livia, Zuffardi, Orsetta, Devriendt, Koen, Armstrong, Ruth, Johnson, Diana, Doco-Fenzy, Martine, Bijlsma, Emilia, Unger, Sheila, Veenstra-Knol, Hermine E., Kohlhase, Jürgen, Lo, Ivan F.M., Smith, Janine, Clayton-Smith, Jill, Gannon, Tamsin, Perveen, Rahat, Schlecht, Hélene, Ramsden, Simon, Anderson, Beverley, Kerr, Bronwyn, Day, Ruth, Banka, Siddharth, Suri, Mohnish, Berland, Siren, Gabbett, Michael, Ma, Alan, Lyonnet, Stan, Cormier-Daire, Valerie, Yilmaz, Rüstem, Borck, Guntram, Wieczorek, Dagmar, Anderlid, Britt Marie, Smithson, Sarah, Vogt, Julie, Moore-Barton, Heather, Simsek-Kiper, Pelin Ozlem, Maystadt, Isabelle, Destrée, Anne, Bucher, Jessica, Angle, Brad, Mohammed, Shehla, Wakeling, Emma, Price, Sue, Singer, Amihood, Sznajer, Yves, Toutain, Annick, Haye, Damien, Newbury-Ecob, Ruth, Fradin, Melanie, McGaughran, Julie, Tuysuz, Beyhan, Tein, Mark, Bouman, Katelijne, Dabir, Tabib, Van Den Ende, Jenneke, Luk, Ho Ming, Pilz, Daniela T., Eason, Jacqueline, Davies, Sally, Reardon, Willie, Garavelli, Livia, Zuffardi, Orsetta, Devriendt, Koen, Armstrong, Ruth, Johnson, Diana, Doco-Fenzy, Martine, Bijlsma, Emilia, Unger, Sheila, Veenstra-Knol, Hermine E., Kohlhase, Jürgen, Lo, Ivan F.M., Smith, Janine, and Clayton-Smith, Jill

Abstract

KAT6B sequence variants have been identified previously in both patients with the Say-Barber-Biesecker type of blepharophimosis mental retardation syndromes (SBBS) and in the more severe genitopatellar syndrome (GPS). We report on the findings in a previously unreported group of 57 individuals with suggestive features of SBBS or GPS. Likely causative variants have been identified in 34/57 patients and were commonly located in the terminal exons of KAT6B. Of those where parental samples could be tested, all occurred de novo. Thirty out of thirty-four had truncating variants, one had a missense variant and the remaining three had the same synonymous change predicted to affect splicing. Variants in GPS tended to occur more proximally to those in SBBS patients, and genotype/phenotype analysis demonstrated significant clinical overlap between SBBS and GPS. The de novo synonymous change seen in three patients with features of SBBS occurred more proximally in exon 16. Statistical analysis of clinical features demonstrated that KAT6B variant-positive patients were more likely to display hypotonia, feeding difficulties, long thumbs/great toes and dental, thyroid and patella abnormalities than KAT6B variant-negative patients. The few reported patients with KAT6B haploinsufficiency had a much milder phenotype, though with some features overlapping those of SBBS. We report the findings in a previously unreported patient with a deletion of the KAT6B gene to further delineate the haploinsufficiency phenotype. The molecular mechanisms giving rise to the SBBS and GPS phenotypes are discussed.

Published
2015

42. Missense variants in ANKRD11cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein

Author

de Boer, Elke, Ockeloen, Charlotte W., Kampen, Rosalie A., Hampstead, Juliet E., Dingemans, Alexander J.M., Rots, Dmitrijs, Lütje, Lukas, Ashraf, Tazeen, Baker, Rachel, Barat-Houari, Mouna, Angle, Brad, Chatron, Nicolas, Denommé-Pichon, Anne-Sophie, Devinsky, Orrin, Dubourg, Christèle, Elmslie, Frances, Elloumi, Houda Zghal, Faivre, Laurence, Fitzgerald-Butt, Sarah, Geneviève, David, Goos, Jacqueline A.C., Helm, Benjamin M., Kini, Usha, Lasa-Aranzasti, Amaia, Lesca, Gaetan, Lynch, Sally A., Mathijssen, Irene M.J., McGowan, Ruth, Monaghan, Kristin G., Odent, Sylvie, Pfundt, Rolph, Putoux, Audrey, van Reeuwijk, Jeroen, Santen, Gijs W.E., Sasaki, Erina, Sorlin, Arthur, van der Spek, Peter J., Stegmann, Alexander P.A., Swagemakers, Sigrid M.A., Valenzuela, Irene, Viora-Dupont, Eléonore, Vitobello, Antonio, Ware, Stephanie M., Wéber, Mathys, Gilissen, Christian, Low, Karen J., Fisher, Simon E., Vissers, Lisenka E.L.M., Wong, Maggie M.K., and Kleefstra, Tjitske

Published
2023
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43. Variability of epilepsy, autism, brachydactyly, and other clinical features in familial and sporadic 2q37.3 deletion

Author

Shrimpton, Antony, primary, Kessler, John, primary, Shaffer, Lisa, primary, Stack, Cindy, primary, Jalali, Ali, primary, Little, Robert, primary, Goldstein, Joshua, primary, Angle, Brad, primary, Chary, Ajit, primary, Coppinger, Justine, primary, Mathison, David, primary, Khan, Sophia, primary, Poznanski, Andrew, primary, Dobyns, William, primary, Craig, David, primary, Hoo, Joe, primary, Sarco, Dean, primary, and Bassuk, Alexander, additional

Published
2015
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44. Urinary Tract Effects of HPSE2 Mutations

Author

Stuart, Helen M., primary, Roberts, Neil A., additional, Hilton, Emma N., additional, McKenzie, Edward A., additional, Daly, Sarah B., additional, Hadfield, Kristen D., additional, Rahal, Jeffery S., additional, Gardiner, Natalie J., additional, Tanley, Simon W., additional, Lewis, Malcolm A., additional, Sites, Emily, additional, Angle, Brad, additional, Alves, Cláudia, additional, Lourenço, Teresa, additional, Rodrigues, Márcia, additional, Calado, Angelina, additional, Amado, Marta, additional, Guerreiro, Nancy, additional, Serras, Inês, additional, Beetz, Christian, additional, Varga, Rita-Eva, additional, Silay, Mesrur Selcuk, additional, Darlow, John M., additional, Dobson, Mark G., additional, Barton, David E., additional, Hunziker, Manuela, additional, Puri, Prem, additional, Feather, Sally A., additional, Goodship, Judith A., additional, Goodship, Timothy H.J., additional, Lambert, Heather J., additional, Cordell, Heather J., additional, Saggar, Anand, additional, Kinali, Maria, additional, Lorenz, Christian, additional, Moeller, Kristina, additional, Schaefer, Franz, additional, Bayazit, Aysun K., additional, Weber, Stefanie, additional, Newman, William G., additional, and Woolf, Adrian S., additional

Published
2015
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48. Guanidinoacetate methyltransferase (GAMT) deficiency: Outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring

Author

Stockler-Ipsiroglu, Sylvia, primary, van Karnebeek, Clara, additional, Longo, Nicola, additional, Korenke, G. Christoph, additional, Mercimek-Mahmutoglu, Saadet, additional, Marquart, Iris, additional, Barshop, Bruce, additional, Grolik, Christiane, additional, Schlune, Andrea, additional, Angle, Brad, additional, Araújo, Helena Caldeira, additional, Coskun, Turgay, additional, Diogo, Luisa, additional, Geraghty, Michael, additional, Haliloglu, Goknur, additional, Konstantopoulou, Vassiliki, additional, Leuzzi, Vincenzo, additional, Levtova, Alina, additional, MacKenzie, Jennifer, additional, Maranda, Bruno, additional, Mhanni, Aizeddin A., additional, Mitchell, Grant, additional, Morris, Andrew, additional, Newlove, Theresa, additional, Renaud, Deborah, additional, Scaglia, Fernando, additional, Valayannopoulos, Vassili, additional, van Spronsen, Francjan J., additional, Verbruggen, Krijn T., additional, Yuskiv, Nataliya, additional, Nyhan, William, additional, and Schulze, Andreas, additional

Published
2014
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49. Korner stones, part 2.

Author

Angle, Brad

Abstract

That's something I try to strive for to this day" "When you try to tune your guitar to Jimmy Page tunings … it opens so many doors, musically, for a guitar player that's just starting", Shaffer says "Mr. Bungle… are so non-traditional … It made me feel like music can be everything. DEPARTMENTS 60 MINUTES with JAMES "MUNKY" SHAFFER "I LOOKED THROUGH my library of songs, and I thought, Man, how can I not live with all of this!" The doctor let me play songs in the delivery room … But I narrowed this list down to "why I play music" and some of the more important guitar-driven songs. [Extracted from the article]

Published
2022

50. Korner stones, part 1.

Author

Angle, Brad

Abstract

And that album and that song got me obsessed with Ozzy and Randy." KORN'S 14TH AND LATEST ALBUM, REQUIEM, IS OUT NOW ON LOMA VISTA RECORDINGS Welch on Metallica's Master of Puppets: "I got into Mötley Crüe and Ratt and I love Def Leppard… So when Master of Puppets came out, I was like, 'Ew, what? DEPARTMENTS 60 MINUTES with BRIAN "HEAD" WELCH Interview by Brad Angle "I GOT A GOOD list for ya!. [Extracted from the article]

Published
2022

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