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Your search keyword '"Park, Soo Mi"' showing total 6 results
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6 results on '"Park, Soo Mi"'

1. Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability

Author

Hamilton, Mark J, Caswell, Richard C, Canham, Natalie, Cole, Trevor, Firth, Helen V, Foulds, Nicola, Heimdal, Ketil, Hobson, Emma, Houge, Gunnar, Joss, Shelagh, Kumar, Dhavendra, Lampe, Anne Katrin, Maystadt, Isabelle, McKay, Victoria, Metcalfe, Kay, Newbury-Ecob, Ruth, Park, Soo-Mi, Robert, Leema, Rustad, Cecilie F, Wakeling, Emma, Wilkie, Andrew O M, Study, The Deciphering Developmental Disorders, Twigg, Stephen R F, and Suri, Mohnish

Published
2018
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2. Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism

Author

Ansari, Morad, Poke, Gemma, Ferry, Quentin, Williamson, Kathleen, Aldridge, Roland, Meynert, Alison M, Bengani, Hemant, Chan, Cheng Yee, Kayserili, Hülya, Avci, Şahin, Hennekam, Raoul C M, Lampe, Anne K, Redeker, Egbert, Homfray, Tessa, Ross, Alison, Falkenberg Smeland, Marie, Mansour, Sahar, Parker, Michael J, Cook, Jacqueline A, Splitt, Miranda, Fisher, Richard B, Fryer, Alan, Magee, Alex C, Wilkie, Andrew, Barnicoat, Angela, Brady, Angela F, Cooper, Nicola S, Mercer, Catherine, Deshpande, Charu, Bennett, Christopher P, Pilz, Daniela T, Ruddy, Deborah, Cilliers, Deirdre, Johnson, Diana S, Josifova, Dragana, Rosser, Elisabeth, Thompson, Elizabeth M, Wakeling, Emma, Kinning, Esther, Stewart, Fiona, Flinter, Frances, Girisha, Katta M, Cox, Helen, Firth, Helen V, Kingston, Helen, Wee, Jamie S, Hurst, Jane A, Clayton-Smith, Jill, Tolmie, John, Vogt, Julie, Tatton–Brown, Katrina, Chandler, Kate, Prescott, Katrina, Wilson, Louise, Behnam, Mahdiyeh, McEntagart, Meriel, Davidson, Rosemarie, Lynch, Sally-Ann, Sisodiya, Sanjay, Mehta, Sarju G, McKee, Shane A, Mohammed, Shehla, Holden, Simon, Park, Soo-Mi, Holder, Susan E, Harrison, Victoria, McConnell, Vivienne, Lam, Wayne K, Green, Andrew J, Donnai, Dian, Bitner-Glindzicz, Maria, Donnelly, Deirdre E, Nellåker, Christoffer, Taylor, Martin S, and FitzPatrick, David R

Published
2014
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3. Tumour risks and genotype–phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD

Author

Andrews, Katrina A, primary, Ascher, David B, additional, Pires, Douglas Eduardo Valente, additional, Barnes, Daniel R, additional, Vialard, Lindsey, additional, Casey, Ruth T, additional, Bradshaw, Nicola, additional, Adlard, Julian, additional, Aylwin, Simon, additional, Brennan, Paul, additional, Brewer, Carole, additional, Cole, Trevor, additional, Cook, Jackie A, additional, Davidson, Rosemarie, additional, Donaldson, Alan, additional, Fryer, Alan, additional, Greenhalgh, Lynn, additional, hodgson, Shirley V, additional, Irving, Richard, additional, Lalloo, Fiona, additional, McConachie, Michelle, additional, McConnell, Vivienne P M, additional, Morrison, Patrick J, additional, Murday, Victoria, additional, Park, Soo-Mi, additional, Simpson, Helen L, additional, Snape, Katie, additional, Stewart, Susan, additional, Tomkins, Susan E, additional, Wallis, Yvonne, additional, Izatt, Louise, additional, Goudie, David, additional, Lindsay, Robert S, additional, Perry, Colin G, additional, Woodward, Emma R, additional, Antoniou, Antonis C, additional, and Maher, Eamonn R, additional

Published
2018
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4. Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability

Author

Hamilton, Mark J, primary, Caswell, Richard C, additional, Canham, Natalie, additional, Cole, Trevor, additional, Firth, Helen V, additional, Foulds, Nicola, additional, Heimdal, Ketil, additional, Hobson, Emma, additional, Houge, Gunnar, additional, Joss, Shelagh, additional, Kumar, Dhavendra, additional, Lampe, Anne Katrin, additional, Maystadt, Isabelle, additional, McKay, Victoria, additional, Metcalfe, Kay, additional, Newbury-Ecob, Ruth, additional, Park, Soo-Mi, additional, Robert, Leema, additional, Rustad, Cecilie F, additional, Wakeling, Emma, additional, Wilkie, Andrew O M, additional, Study, The Deciphering Developmental Disor, additional, Twigg, Stephen R F, additional, and Suri, Mohnish, additional

Published
2017
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5. STAG1mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability

Author

Lehalle, Daphné, primary, Mosca-Boidron, Anne-Laure, additional, Begtrup, Amber, additional, Boute-Benejean, Odile, additional, Charles, Perrine, additional, Cho, Megan T, additional, Clarkson, Amanda, additional, Devinsky, Orrin, additional, Duffourd, Yannis, additional, Duplomb-Jego, Laurence, additional, Gérard, Bénédicte, additional, Jacquette, Aurélia, additional, Kuentz, Paul, additional, Masurel-Paulet, Alice, additional, McDougall, Carey, additional, Moutton, Sébastien, additional, Olivié, Hilde, additional, Park, Soo-Mi, additional, Rauch, Anita, additional, Revencu, Nicole, additional, Rivière, Jean-Baptiste, additional, Rubin, Karol, additional, Simonic, Ingrid, additional, Shears, Deborah J, additional, Smol, Thomas, additional, Taylor Tavares, Ana Lisa, additional, Terhal, Paulien, additional, Thevenon, Julien, additional, Van Gassen, Koen, additional, Vincent-Delorme, Catherine, additional, Willemsen, Marjolein H, additional, Wilson, Golder N, additional, Zackai, Elaine, additional, Zweier, Christiane, additional, Callier, Patrick, additional, Thauvin-Robinet, Christel, additional, and Faivre, Laurence, additional

Published
2017
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6. STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability.

Author

Lehalle D, Mosca-Boidron AL, Begtrup A, Boute-Benejean O, Charles P, Cho MT, Clarkson A, Devinsky O, Duffourd Y, Duplomb-Jego L, Gérard B, Jacquette A, Kuentz P, Masurel-Paulet A, McDougall C, Moutton S, Olivié H, Park SM, Rauch A, Revencu N, Rivière JB, Rubin K, Simonic I, Shears DJ, Smol T, Taylor Tavares AL, Terhal P, Thevenon J, Van Gassen K, Vincent-Delorme C, Willemsen MH, Wilson GN, Zackai E, Zweier C, Callier P, Thauvin-Robinet C, and Faivre L

Subjects
Adult, Child, Child, Preschool, Comparative Genomic Hybridization, Female, Humans, Infant, Male, Pedigree, Phenotype, Syndrome, Exome Sequencing, Cohesins, Cell Cycle Proteins metabolism, Chromosomal Proteins, Non-Histone metabolism, Intellectual Disability genetics, Mutation genetics, Nuclear Proteins genetics
Abstract

Background: Cohesinopathies are rare neurodevelopmental disorders arising from a dysfunction in the cohesin pathway, which enables chromosome segregation and regulates gene transcription. So far, eight genes from this pathway have been reported in human disease. STAG1 belongs to the STAG subunit of the core cohesin complex, along with five other subunits. This work aimed to identify the phenotype ascribed to STAG1 mutations., Methods: Among patients referred for intellectual disability (ID) in genetics departments worldwide, array-comparative genomic hybridisation (CGH), gene panel, whole-exome sequencing or whole-genome sequencing were performed following the local diagnostic standards., Results: A mutation in STAG1 was identified in 17 individuals from 16 families, 9 males and 8 females aged 2-33 years. Four individuals harboured a small microdeletion encompassing STAG1 ; three individuals from two families had an intragenic STAG1 deletion. Six deletions were identified by array-CGH, one by whole-exome sequencing. Whole-exome sequencing found de novo heterozygous missense or frameshift STAG1 variants in eight patients, a panel of genes involved in ID identified a missense and a frameshift variant in two individuals. The 17 patients shared common facial features, with wide mouth and deep-set eyes. Four individuals had mild microcephaly, seven had epilepsy., Conclusions: We report an international series of 17 individuals from 16 families presenting with syndromic unspecific ID that could be attributed to a STAG1 deletion or point mutation. This first series reporting the phenotype ascribed to mutation in STAG1 highlights the importance of data sharing in the field of rare disorders., Competing Interests: Competing interests: MTC and AB are employees of GeneDx., (Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/.)

Published
2017
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