Zobrazeno 1 - 10
of 52
pro vyhledávání: '"Luis F. Escobar"'
Autor:
Ilaria Mannucci, Nghi D. P. Dang, Hannes Huber, Jaclyn B. Murry, Jeff Abramson, Thorsten Althoff, Siddharth Banka, Gareth Baynam, David Bearden, Ana Beleza-Meireles, Paul J. Benke, Siren Berland, Tatjana Bierhals, Frederic Bilan, Laurence A. Bindoff, Geir Julius Braathen, Øyvind L. Busk, Jirat Chenbhanich, Jonas Denecke, Luis F. Escobar, Caroline Estes, Julie Fleischer, Daniel Groepper, Charlotte A. Haaxma, Maja Hempel, Yolanda Holler-Managan, Gunnar Houge, Adam Jackson, Laura Kellogg, Boris Keren, Catherine Kiraly-Borri, Cornelia Kraus, Christian Kubisch, Gwenael Le Guyader, Ulf W. Ljungblad, Leslie Manace Brenman, Julian A. Martinez-Agosto, Matthew Might, David T. Miller, Kelly Q. Minks, Billur Moghaddam, Caroline Nava, Stanley F. Nelson, John M. Parant, Trine Prescott, Farrah Rajabi, Hanitra Randrianaivo, Simone F. Reiter, Janneke Schuurs-Hoeijmakers, Perry B. Shieh, Anne Slavotinek, Sarah Smithson, Alexander P. A. Stegmann, Kinga Tomczak, Kristian Tveten, Jun Wang, Jordan H. Whitlock, Christiane Zweier, Kirsty McWalter, Jane Juusola, Fabiola Quintero-Rivera, Utz Fischer, Nan Cher Yeo, Hans-Jürgen Kreienkamp, Davor Lessel
Publikováno v:
Genome Medicine, Vol 13, Iss 1, Pp 1-19 (2021)
Abstract Background We aimed to define the clinical and variant spectrum and to provide novel molecular insights into the DHX30-associated neurodevelopmental disorder. Methods Clinical and genetic data from affected individuals were collected through
Externí odkaz:
https://doaj.org/article/c447334b912746929ee920eb4139f48f
Autor:
Luis F. Escobar
Publikováno v:
The Role of Multinational Enterprises in Supporting the United Nations' SDGs ISBN: 9781802202410
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ca724aac93a1a30357c29ce7c0eb2b6f
https://doi.org/10.4337/9781802202410.00013
https://doi.org/10.4337/9781802202410.00013
Autor:
Nghi Dang, Jonas Denecke, Jaclyn B. Murry, Laurence A. Bindoff, Tatjana Bierhals, Caroline Nava, Jordan H. Whitlock, Anne Slavotinek, Julian A. Martinez-Agosto, Frédéric Bilan, Ana Beleza-Meireles, Caroline Estes, Janneke H M Schuurs-Hoeijmakers, Adam Jackson, Christiane Zweier, David T. Miller, Kirsty McWalter, Gunnar Houge, Boris Keren, Jun Wang, Kinga K. Tomczak, Hans-Jürgen Kreienkamp, Siren Berland, Fabiola Quintero-Rivera, Charlotte A. Haaxma, Gwenaël Le Guyader, Laura Kellogg, Siddharth Banka, John M. Parant, Nan Cher Yeo, Jirat Chenbhanich, Davor Lessel, Cornelia Kraus, Yolanda Holler-Managan, Kelly Q. Minks, Julie Fleischer, Sarah F. Smithson, Geir J. Braathen, Ilaria Mannucci, Stanley F. Nelson, Trine Prescott, Luis F. Escobar, Simone F. Reiter, Kristian Tveten, David Bearden, Utz Fischer, Christian Kubisch, Perry B. Shieh, Jeff Abramson, Jane Juusola, Maja Hempel, Ulf W. Ljungblad, Daniel Groepper, Hannes Huber, Billur Moghaddam, Leslie Manace Brenman, Thorsten Althoff, Matthew Might, Alexander P.A. Stegmann, Cathy Kiraly-Borri, Øyvind L. Busk, Gareth Baynam, Hanitra Randrianaivo, Paul J. Benke, Farrah Rajabi
Publikováno v:
Genome Medicine, 13, 1
Genome Medicine, 13(1):90. BioMed Central Ltd
Genome Medicine, 13
Genome medicine, vol 13, iss 1
Mannucci, I, Dang, N D P, Huber, H, Murry, J B, Abramson, J, Althoff, T, Banka, S, Baynam, G, Bearden, D, Beleza-Meireles, A, Benke, P J, Berland, S, Bierhals, T, Bilan, F, Bindoff, L A, Braathen, G J, Busk, Ø L, Chenbhanich, J, Denecke, J, Escobar, L F, Estes, C, Fleischer, J, Groepper, D, Haaxma, C A, Hempel, M, Holler-Managan, Y, Jackson, A, Kellogg, L, Keren, B, Kiraly-Borri, C, Kraus, C, Kubisch, C, Le Guyader, G, Ljungblad, U W, Brenman, L M, Martinez-Agosto, J A, Might, M, Miller, D T, Minks, K Q, Moghaddam, B, Nava, C, Nelson, S F, Parant, J M, Prescott, T, Rajabi, F, Randrianaivo, H, Reiter, S F, Schuurs-Hoeijmakers, J, Shieh, P B, Slavotinek, A, Stegmann, A P A, Tomczak, K, Tveten, K, Wang, J, Whitlock, J H, Zweier, C, McWalter, K, Juusola, J, Quintero-Rivera, F, Fischer, U, Yeo, N C, Kreienkamp, H-J & Lessel, D 2021, ' Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders ', Genome Medicine, vol. 13, no. 1, 90 . https://doi.org/10.1186/s13073-021-00900-3
Genome Medicine, Vol 13, Iss 1, Pp 1-19 (2021)
Genome Medicine
Mannucci, Ilaria; Dang, Nghi D P; Huber, Hannes; Murry, Jaclyn B; Abramson, Jeff; Althoff, Thorsten; Banka, Siddharth; Baynam, Gareth; Bearden, David; Beleza-Meireles, Ana; Benke, Paul J; Berland, Siren; Bierhals, Tatjana; Bilan, Frederic; Bindoff, Laurence A; Braathen, Geir Julius; Busk, Øyvind L; Chenbhanich, Jirat; Denecke, Jonas; Escobar, Luis F; ... (2021). Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders. Genome medicine, 13(1), p. 90. BioMed Central 10.1186/s13073-021-00900-3
Genome Medicine, 13(1):90. BioMed Central Ltd
Genome Medicine, 13
Genome medicine, vol 13, iss 1
Mannucci, I, Dang, N D P, Huber, H, Murry, J B, Abramson, J, Althoff, T, Banka, S, Baynam, G, Bearden, D, Beleza-Meireles, A, Benke, P J, Berland, S, Bierhals, T, Bilan, F, Bindoff, L A, Braathen, G J, Busk, Ø L, Chenbhanich, J, Denecke, J, Escobar, L F, Estes, C, Fleischer, J, Groepper, D, Haaxma, C A, Hempel, M, Holler-Managan, Y, Jackson, A, Kellogg, L, Keren, B, Kiraly-Borri, C, Kraus, C, Kubisch, C, Le Guyader, G, Ljungblad, U W, Brenman, L M, Martinez-Agosto, J A, Might, M, Miller, D T, Minks, K Q, Moghaddam, B, Nava, C, Nelson, S F, Parant, J M, Prescott, T, Rajabi, F, Randrianaivo, H, Reiter, S F, Schuurs-Hoeijmakers, J, Shieh, P B, Slavotinek, A, Stegmann, A P A, Tomczak, K, Tveten, K, Wang, J, Whitlock, J H, Zweier, C, McWalter, K, Juusola, J, Quintero-Rivera, F, Fischer, U, Yeo, N C, Kreienkamp, H-J & Lessel, D 2021, ' Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders ', Genome Medicine, vol. 13, no. 1, 90 . https://doi.org/10.1186/s13073-021-00900-3
Genome Medicine, Vol 13, Iss 1, Pp 1-19 (2021)
Genome Medicine
Mannucci, Ilaria; Dang, Nghi D P; Huber, Hannes; Murry, Jaclyn B; Abramson, Jeff; Althoff, Thorsten; Banka, Siddharth; Baynam, Gareth; Bearden, David; Beleza-Meireles, Ana; Benke, Paul J; Berland, Siren; Bierhals, Tatjana; Bilan, Frederic; Bindoff, Laurence A; Braathen, Geir Julius; Busk, Øyvind L; Chenbhanich, Jirat; Denecke, Jonas; Escobar, Luis F; ... (2021). Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders. Genome medicine, 13(1), p. 90. BioMed Central 10.1186/s13073-021-00900-3
Background We aimed to define the clinical and variant spectrum and to provide novel molecular insights into the DHX30-associated neurodevelopmental disorder. Methods Clinical and genetic data from affected individuals were collected through Facebook
Autor:
Francisca Millan, Mieke M. van Haelst, Ankita Patel, Cédric Le Caignec, Jean P. Pfotenhauer, Wendy E. Smith, Denise Horn, Klaske D. Lichtenbelt, Tanner Hagelstrom, David A. Dyment, Ryan J. Taft, Jill V. Hunter, Jolanta Wierzba, Margarita Saenz, Ian D. Krantz, Denise L. Perry, Luis F. Escobar, Bertrand Isidor, Ingrid Cristian, Richard E. Person, Aditi Chawla, Michael D. Fountain, Diane Masser-Frye, Sarah E. Raible, Koen L.I. van Gassen, Erin Torti, Weimin Bi, Philip J. Lupo, Jill A. Rosenfeld, Chumei Li, Claude Férec, Robert C. Pedersen, Megan E. Rech, Fan Xia, Sébastien Küry, Ilaria Parenti, Ingrid M. Wentzensen, Loren D M Pena, Jane Juusola, Manuel Holtgrewe, Frank J. Kaiser, John M. McCarthy, David S. Oleson, Arnold Munnich, Kévin Uguen, Thomas M. Morgan, Lara Segebrecht, Sung Hae L. Kang, Nadja Ehmke, Sunita Venkateswaran, Christian P. Schaaf, Marilyn C. Jones, Tim M. Strom, Rocio Moran, Stéphane Bézieau, Rebecca C. Spillmann
Publikováno v:
Genetics in Medicine, 21(8), 1797. Lippincott Williams and Wilkins
Genet. Med. 21, 1797-1807 (2019)
Genetics in medicine : official journal of the American College of Medical Genetics, vol 21, iss 8
Fountain, M D, Oleson, D S, Rech, M E, Segebrecht, L, Hunter, J V, McCarthy, J M, Lupo, P J, Holtgrewe, M, Moran, R, Rosenfeld, J A, Isidor, B, le Caignec, C D, Saenz, M S, Pedersen, R C, Morgan, T M, Pfotenhauer, J P, Xia, F, Bi, W, Kang, S-H L, Patel, A, Krantz, I D, Raible, S E, Smith, W, Cristian, I, Torti, E, Juusola, J, Millan, F, Wentzensen, I M, Person, R E, Küry, S B, Bézieau, S, Uguen, K V, Férec, C, Munnich, A, van Haelst, M, Lichtenbelt, K D, van Gassen, K, Hagelstrom, T, Chawla, A, Perry, D L, Taft, R J, Jones, M, Masser-Frye, D, Dyment, D, Venkateswaran, S, Li, C, Escobar, L F, Horn, D, Spillmann, R C, Peña, L, Wierzba, J, Strom, T M, Parenti, I, Kaiser, F J, Ehmke, N & Schaaf, C P 2019, ' Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies ', Genetics in Medicine, vol. 21, no. 8, pp. 1797-1807 . https://doi.org/10.1038/s41436-019-0433-1
Genetics in Medicine
Genetics in Medicine, 21(8), 1797-1807. Lippincott Williams and Wilkins
Genet. Med. 21, 1797-1807 (2019)
Genetics in medicine : official journal of the American College of Medical Genetics, vol 21, iss 8
Fountain, M D, Oleson, D S, Rech, M E, Segebrecht, L, Hunter, J V, McCarthy, J M, Lupo, P J, Holtgrewe, M, Moran, R, Rosenfeld, J A, Isidor, B, le Caignec, C D, Saenz, M S, Pedersen, R C, Morgan, T M, Pfotenhauer, J P, Xia, F, Bi, W, Kang, S-H L, Patel, A, Krantz, I D, Raible, S E, Smith, W, Cristian, I, Torti, E, Juusola, J, Millan, F, Wentzensen, I M, Person, R E, Küry, S B, Bézieau, S, Uguen, K V, Férec, C, Munnich, A, van Haelst, M, Lichtenbelt, K D, van Gassen, K, Hagelstrom, T, Chawla, A, Perry, D L, Taft, R J, Jones, M, Masser-Frye, D, Dyment, D, Venkateswaran, S, Li, C, Escobar, L F, Horn, D, Spillmann, R C, Peña, L, Wierzba, J, Strom, T M, Parenti, I, Kaiser, F J, Ehmke, N & Schaaf, C P 2019, ' Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies ', Genetics in Medicine, vol. 21, no. 8, pp. 1797-1807 . https://doi.org/10.1038/s41436-019-0433-1
Genetics in Medicine
Genetics in Medicine, 21(8), 1797-1807. Lippincott Williams and Wilkins
Purpose: Haploinsufficiency of USP7, located at chromosome 16p13.2, has recently been reported in seven individuals with neurodevelopmental phenotypes, including developmental delay/intellectual disability (DD/ID), autism spectrum disorder (ASD), sei
Autor:
Seth I. Berger, Maximilian Muenke, Omkar Hajirnis, Paul Kruszka, David R. Murdock, Raymond J. Louie, Joshua L. Everson, Luis F. Escobar, Chitra Prasad, Maria Iascone, Hülya Kayserili, Raymond A. Poot, Valentina Casa, Nancy J. Clegg, Evelien Zonneveld-Huijssoon, Anna Cereda, Jenna Gaesser, Meena Balasubramanian, Nicole Corsten-Janssen, Mike R. Dekker, Jacob Hogue, Mark J. Stephan, Mauricio R. Delgado, Ariel F. Martinez, Oebele F. Brouwer, Allison Schreiber, Ping Hu, Angie W Lichty, Vickie Zurcher, Kerstin S. Wendt, Karin Weiss, Eloise J. Prijoles, Robert J. Lipinski, Momoko Tanima-Nagai, Matthew A. Deardorff
Publikováno v:
Brain
Paediatrics Publications
Brain, 142, 2631-2643. Oxford University Press
Paediatrics Publications
Brain, 142, 2631-2643. Oxford University Press
Marked by incomplete division of the embryonic forebrain, holoprosencephaly is one of the most common human developmental disorders. Despite decades of phenotype-driven research, 80-90% of aneuploidy-negative holoprosencephaly individuals with a prob
Autor:
Alexander P.A. Stegmann, Jun Wang, Anne Slavotinek, Cornelia Kraus, Paul J. Benke, Christiane Zweier, Fabiola Quintero-Rivera, Øyvind L. Busk, Kirsty McWalter, Hans-Jürgen Kreienkamp, Luis F. Escobar, Geir J. Braathen, Kristian Tveten, Farrah Rajabi, Charlotte A. Haaxma, David Bearden, John M. Parant, Yolanda Holler-Managan, Nghi Dang, Leslie Manace Brenman, Ana Beleza, Thorsten Althoff, Cathy Kiraly-Borri, Maja Hempel, Christian Kubisch, Kelly Q. Minks, Laura Kellogg, Hannes Huber, Ulf W. Ljungblad, Hanitra Randrianaivo, Perry B. Shieh, Jeff Abramson, Jirat Chenbhanich, Jonas Denecke, Billur Moghaddam, Gareth Baynam, Kinga K. Tomczak, Matthew Might, Jane Juusola, Jordan H. Whitlock, Gunnar Houge, Julie Fleischer, Laurence A. Bindoff, Siren Berland, Tatjana Bierhals, Adam Jackson, Gwenaël Le Guyader, Stanley F. Nelson, Caroline Estes, Nan Cher Yeo, Simone F. Reiter, Utz Fischer, Sarah F. Smithson, Daniel Groepper, Siddharth Banka, Davor Lessel, Frédéric Bilan, Ilaria Mannucci, Trine Prescott, David T. Miller, Janneke H M Schuurs-Hoeijmakers, Boris Keren, Jaclyn B. Murry, Caroline Nava, Julian A. Martinez-Agosto
BackgroundWe aimed to define the clinical and mutational spectrum, and to provide novel molecular insights into DHX30-associated neurodevelopmental disorder.MethodsClinical and genetic data from affected individuals were collected through family supp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f76f0fda77edaab5af461715f228d85b
https://doi.org/10.1101/2020.09.24.20196097
https://doi.org/10.1101/2020.09.24.20196097
Autor:
V. Reid Sutton, Fan Xia, Jonathan A. Bernstein, Jill A. Rosenfeld, Donna M. Muzny, Christian P. Schaaf, Francesco Vetrini, Pedro Mancias, Luis F. Escobar, Chad A. Shaw, Marvin R. Natowicz, Deanna J. Erwin, Richard A. Gibbs, Linyan Meng, Alicia Braxton, Karen W. Gripp, Seema R. Lalani, James R. Lupski, Patricia A. Ward, Jennifer E. Posey, Haley Streff, Charul Gijavanekar, Yasemen Eroglu, Andrea M. Lewis, Jie Dong, Arthur L. Beaudet, Hilary J. Vernon, Christine M. Eng, Hongzheng Dai, Pilar L. Magoulas, Weimin Bi, La Keesha Minor, Fernando Scaglia, Andrew R. Ghazi, Yaping Yang, Elizabeth A. Normand, Nan Wu, Theodore Chiang, Xiaofei Song, Mary Kay Koenig, Soledad Kleppe, Weimin He, Hanyin Cheng, Crescenda L. Uhles, Paul J. Benke, Rui Xiao, Elaine H. Zackai, James B. Gibson, Tanya N. Eble, Bo Yuan, Pengfei Liu, Xia Wang
Publikováno v:
N Engl J Med
Reanalysis of Clinical Exome Data and Diagnostic Yield As knowledge about genetic causes of disease improves, periodic reanalysis of clinical exome sequence could yield new genetic information. Thi...
Autor:
Joanna J. Chmielewska, Shamile Morgan, Peter D Turnpenny, Rachel Slaugh, Joshua Rotenberg, Anthony Wynshaw-Boris, Laurie H. Seaver, Jorge L. Granadillo, Deepika D’Cunha Burkardt, Magdalena Dziembowska, Melissa Zuteck, Luis F. Escobar, Cyril Mignot, Boris Keren, Rafał Płoski, Abidemi Adegbola
Publikováno v:
HGG Advances, Vol 2, Iss 3, Pp 100033-(2021)
HGG advances
HGG advances
Summary: Protein-tyrosine phosphatases (PTPs) are pleomorphic regulators of eukaryotic cellular responses to extracellular signals that function by modulating the phosphotyrosine of specific proteins. A handful of PTPs have been implicated in germlin
Autor:
Anne H. O’Donnell-Luria, Lynn S. Pais, Víctor Faundes, Jordan C. Wood, Abigail Sveden, Victor Luria, Rami Abou Jamra, Andrea Accogli, Kimberly Amburgey, Britt Marie Anderlid, Silvia Azzarello-Burri, Alice A. Basinger, Claudia Bianchini, Lynne M. Bird, Rebecca Buchert, Wilfrid Carre, Sophia Ceulemans, Perrine Charles, Helen Cox, Lisa Culliton, Aurora Currò, Florence Demurger, James J. Dowling, Benedicte Duban-Bedu, Christèle Dubourg, Saga Elise Eiset, Luis F. Escobar, Alessandra Ferrarini, Tobias B. Haack, Mona Hashim, Solveig Heide, Katherine L. Helbig, Ingo Helbig, Raul Heredia, Delphine Héron, Bertrand Isidor, Amy R. Jonasson, Pascal Joset, Boris Keren, Fernando Kok, Hester Y. Kroes, Alinoë Lavillaureix, Xin Lu, Saskia M. Maas, Gustavo H.B. Maegawa, Carlo L.M. Marcelis, Paul R. Mark, Marcelo R. Masruha, Heather M. McLaughlin, Kirsty McWalter, Esther U. Melchinger, Saadet Mercimek-Andrews, Caroline Nava, Manuela Pendziwiat, Richard Person, Gian Paolo Ramelli, Luiza L.P. Ramos, Anita Rauch, Caitlin Reavey, Alessandra Renieri, Angelika Rieß, Amarilis Sanchez-Valle, Shifteh Sattar, Carol Saunders, Niklas Schwarz, Thomas Smol, Myriam Srour, Katharina Steindl, Steffen Syrbe, Jenny C. Taylor, Aida Telegrafi, Isabelle Thiffault, Doris A. Trauner, Helio van der Linden, Silvana van Koningsbruggen, Laurent Villard, Ida Vogel, Julie Vogt, Yvonne G. Weber, Ingrid M. Wentzensen, Elysa Widjaja, Jaroslav Zak, Samantha Baxter, Siddharth Banka, Lance H. Rodan, Jeremy F. McRae, Stephen Clayton, Tomas W. Fitzgerald, Joanna Kaplanis, Elena Prigmore, Diana Rajan, Alejandro Sifrim, Stuart Aitken, Nadia Akawi, Mohsan Alvi, Kirsty Ambridge, Daniel M. Barrett, Tanya Bayzetinova, Philip Jones, Wendy D. Jones, Daniel King, Netravathi Krishnappa, Laura E. Mason, Tarjinder Singh, Adrian R. Tivey, Munaza Ahmed, Uruj Anjum, Hayley Archer, Ruth Armstrong, Jana Awada, Meena Balasubramanian, Diana Baralle, Angela Barnicoat, Paul Batstone, David Baty, Chris Bennett, Jonathan Berg, Birgitta Bernhard, A. Paul Bevan, Maria Bitner-Glindzicz, Edward Blair, Moira Blyth, David Bohanna, Louise Bourdon, David Bourn, Lisa Bradley, Angela Brady, Simon Brent, Carole Brewer, Kate Brunstrom, David J. Bunyan, John Burn, Natalie Canham, Bruce Castle, Kate Chandler, Elena Chatzimichali, Deirdre Cilliers, Angus Clarke, Susan Clasper, Jill Clayton-Smith, Virginia Clowes, Andrea Coates, Trevor Cole, Irina Colgiu, Amanda Collins, Morag N. Collinson, Fiona Connell, Nicola Cooper, Lara Cresswell, Gareth Cross, Yanick Crow, Mariella D’Alessandro, Tabib Dabir, Rosemarie Davidson, Sally Davies, Dylan de Vries, John Dean, Charu Deshpande, Gemma Devlin, Abhijit Dixit, Angus Dobbie, Alan Donaldson, Dian Donnai, Deirdre Donnelly, Carina Donnelly, Angela Douglas, Sofia Douzgou, Alexis Duncan, Jacqueline Eason, Sian Ellard, Ian Ellis, Frances Elmslie, Karenza Evans, Sarah Everest, Tina Fendick, Richard Fisher, Frances Flinter, Nicola Foulds, Andrew Fry, Alan Fryer, Carol Gardiner, Lorraine Gaunt, Neeti Ghali, Richard Gibbons, Harinder Gill, Judith Goodship, David Goudie, Emma Gray, Andrew Green, Philip Greene, Lynn Greenhalgh, Susan Gribble, Rachel Harrison, Lucy Harrison, Victoria Harrison, Rose Hawkins, Liu He, Stephen Hellens, Alex Henderson, Sarah Hewitt, Lucy Hildyard, Emma Hobson, Simon Holden, Muriel Holder, Susan Holder, Georgina Hollingsworth, Tessa Homfray, Mervyn Humphreys, Jane Hurst, Ben Hutton, Stuart Ingram, Melita Irving, Lily Islam, Andrew Jackson, Joanna Jarvis, Lucy Jenkins, Diana Johnson, Elizabeth Jones, Dragana Josifova, Shelagh Joss, Beckie Kaemba, Sandra Kazembe, Rosemary Kelsell, Bronwyn Kerr, Helen Kingston, Usha Kini, Esther Kinning, Gail Kirby, Claire Kirk, Emma Kivuva, Alison Kraus, Dhavendra Kumar, V. K. Ajith Kumar, Katherine Lachlan, Wayne Lam, Anne Lampe, Caroline Langman, Melissa Lees, Derek Lim, Cheryl Longman, Gordon Lowther, Sally A. Lynch, Alex Magee, Eddy Maher, Alison Male, Sahar Mansour, Karen Marks, Katherine Martin, Una Maye, Emma McCann, Vivienne McConnell, Meriel McEntagart, Ruth McGowan, Kirsten McKay, Shane McKee, Dominic J. McMullan, Susan McNerlan, Catherine McWilliam, Sarju Mehta, Kay Metcalfe, Anna Middleton, Zosia Miedzybrodzka, Emma Miles, Shehla Mohammed, Tara Montgomery, David Moore, Sian Morgan, Jenny Morton, Hood Mugalaasi, Victoria Murday, Helen Murphy, Swati Naik, Andrea Nemeth, Louise Nevitt, Ruth Newbury-Ecob, Andrew Norman, Rosie O’Shea, Caroline Ogilvie, Kai-Ren Ong, Soo-Mi Park, Michael J. Parker, Chirag Patel, Joan Paterson, Stewart Payne, Daniel Perrett, Julie Phipps, Daniela T. Pilz, Martin Pollard, Caroline Pottinger, Joanna Poulton, Norman Pratt, Katrina Prescott, Sue Price, Abigail Pridham, Annie Procter, Hellen Purnell, Oliver Quarrell, Nicola Ragge, Raheleh Rahbari, Josh Randall, Julia Rankin, Lucy Raymond, Debbie Rice, Leema Robert, Eileen Roberts, Jonathan Roberts, Paul Roberts, Gillian Roberts, Alison Ross, Elisabeth Rosser, Anand Saggar, Shalaka Samant, Julian Sampson, Richard Sandford, Ajoy Sarkar, Susann Schweiger, Richard Scott, Ingrid Scurr, Ann Selby, Anneke Seller, Cheryl Sequeira, Nora Shannon, Saba Sharif, Charles Shaw-Smith, Emma Shearing, Debbie Shears, Eamonn Sheridan, Ingrid Simonic, Roldan Singzon, Zara Skitt, Audrey Smith, Kath Smith, Sarah Smithson, Linda Sneddon, Miranda Splitt, Miranda Squires, Fiona Stewart, Helen Stewart, Volker Straub, Mohnish Suri, Vivienne Sutton, Ganesh Jawahar Swaminathan, Elizabeth Sweeney, Kate Tatton-Brown, Cat Taylor, Rohan Taylor, Mark Tein, I. Karen Temple, Jenny Thomson, Marc Tischkowitz, Susan Tomkins, Audrey Torokwa, Becky Treacy, Claire Turner, Peter Turnpenny, Carolyn Tysoe, Anthony Vandersteen, Vinod Varghese, Pradeep Vasudevan, Parthiban Vijayarangakannan, Emma Wakeling, Sarah Wallwark, Jonathon Waters, Astrid Weber, Diana Wellesley, Margo Whiteford, Sara Widaa, Sarah Wilcox, Emily Wilkinson, Denise Williams, Nicola Williams, Louise Wilson, Geoff Woods, Christopher Wragg, Michael Wright, Laura Yates, Michael Yau, Chris Nellåker, Michael Parker, Helen V. Firth, Caroline F. Wright, David R. FitzPatrick, Jeffrey C. Barrett, Matthew E. Hurles
Publikováno v:
American Journal of Human Genetics, 104(6), 1210. Cell Press
American Journal of Human Genetics, 104, 6, pp. 1210-1222
American Journal of Human Genetics
American Journal of Human Genetics, 2019, 104 (6), pp.1210-1222. ⟨10.1016/j.ajhg.2019.03.021⟩
American Journal of Human Genetics, Elsevier (Cell Press), 2019, 104 (6), pp.1210-1222. ⟨10.1016/j.ajhg.2019.03.021⟩
American journal of human genetics, 104(6), 1210-1222. Cell Press
American Journal of Human Genetics, 104, 1210-1222
O'Donnell-Luria, A H, Pais, L S, Faundes, V, Wood, J C, Sveden, A, Luria, V, Abou Jamra, R, Accogli, A, Amburgey, K, Anderlid, B M, Azzarello-Burri, S, Basinger, A A, Bianchini, C, Bird, L M, Buchert, R, Carre, W, Ceulemans, S, Charles, P, Cox, H, Culliton, L, Currò, A, Deciphering Developmental Disorders (DDD) Study, Demurger, F, Dowling, J J, Duban-Bedu, B, Dubourg, C, Eiset, S E, Escobar, L F, Ferrarini, A, Haack, T B, Hashim, M, Heide, S, Helbig, K L, Helbig, I, Heredia, R, Héron, D, Isidor, B, Jonasson, A R, Joset, P, Keren, B, Kok, F, Kroes, H, Lavillaureix, A, Lu, X, Maass, S, Maegawa, G H B, Marcelis, C M, Mark, P, Masruha, M, McLaughlin, H, McWalter, K, Melchinger, E, Mercimek-Andrews, S, Nava, C, Pendziwiat, M, Person, R, Ramelli, G P, Ramos, L, Rauch, A, Reavey, C, Renieri, A, Rieß, A, Sanchez-Valle, A, Sattar, S, Saunders, C, Schwarz, N, Smol, T, Srour, M, Steindl, K, Syrbe, S, Taylor, J C, Telegrafi, A, Thiffault, I, Trauner, D, van der Linden Jr., H, van Koningsbruggen, S, Vilard, L, Vogel, I, Vogt, J, Weber, Y G, Wentzensen, I, Widjaja, E, Zak, J, Baxter, S, Banka, S & Rodan, L H 2019, ' Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy ', American Journal of Human Genetics, vol. 104, no. 6, pp. 1210-1222 . https://doi.org/10.1016/j.ajhg.2019.03.021
American Journal of Human Genetics, 104, 6, pp. 1210-1222
American Journal of Human Genetics
American Journal of Human Genetics, 2019, 104 (6), pp.1210-1222. ⟨10.1016/j.ajhg.2019.03.021⟩
American Journal of Human Genetics, Elsevier (Cell Press), 2019, 104 (6), pp.1210-1222. ⟨10.1016/j.ajhg.2019.03.021⟩
American journal of human genetics, 104(6), 1210-1222. Cell Press
American Journal of Human Genetics, 104, 1210-1222
O'Donnell-Luria, A H, Pais, L S, Faundes, V, Wood, J C, Sveden, A, Luria, V, Abou Jamra, R, Accogli, A, Amburgey, K, Anderlid, B M, Azzarello-Burri, S, Basinger, A A, Bianchini, C, Bird, L M, Buchert, R, Carre, W, Ceulemans, S, Charles, P, Cox, H, Culliton, L, Currò, A, Deciphering Developmental Disorders (DDD) Study, Demurger, F, Dowling, J J, Duban-Bedu, B, Dubourg, C, Eiset, S E, Escobar, L F, Ferrarini, A, Haack, T B, Hashim, M, Heide, S, Helbig, K L, Helbig, I, Heredia, R, Héron, D, Isidor, B, Jonasson, A R, Joset, P, Keren, B, Kok, F, Kroes, H, Lavillaureix, A, Lu, X, Maass, S, Maegawa, G H B, Marcelis, C M, Mark, P, Masruha, M, McLaughlin, H, McWalter, K, Melchinger, E, Mercimek-Andrews, S, Nava, C, Pendziwiat, M, Person, R, Ramelli, G P, Ramos, L, Rauch, A, Reavey, C, Renieri, A, Rieß, A, Sanchez-Valle, A, Sattar, S, Saunders, C, Schwarz, N, Smol, T, Srour, M, Steindl, K, Syrbe, S, Taylor, J C, Telegrafi, A, Thiffault, I, Trauner, D, van der Linden Jr., H, van Koningsbruggen, S, Vilard, L, Vogel, I, Vogt, J, Weber, Y G, Wentzensen, I, Widjaja, E, Zak, J, Baxter, S, Banka, S & Rodan, L H 2019, ' Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy ', American Journal of Human Genetics, vol. 104, no. 6, pp. 1210-1222 . https://doi.org/10.1016/j.ajhg.2019.03.021
Contains fulltext : 206572.pdf (Publisher’s version ) (Open Access) We delineate a KMT2E-related neurodevelopmental disorder on the basis of 38 individuals in 36 families. This study includes 31 distinct heterozygous variants in KMT2E (28 ascertain
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e445ede8c834a46a17c2feb49693771
https://dspace.library.uu.nl/handle/1874/381706
https://dspace.library.uu.nl/handle/1874/381706
Autor:
Amy Crunk, Delphine Héron, Gretchen Parsons, Caroline Nava, Paul R. Mark, Richard E. Person, John M. Graham, Hannah Warren, Parul Jayakar, Lise Larcher, Marwan Shinawi, Sandra Whalen, Audrey Putoux, Kathryn G. Miller, Jane Juusola, Boris Keren, Rebecca Willaert, Alexandra Afenjar, Isabelle Sabatier, Susan A. Berry, Benjamin Cogné, Susan M. Hiatt, Jackie Boyle, Natasha Shur, Erin Torti, Rachel Rabin, Gaetan Lesca, Thomas Courtin, Mathilde Nizon, Luis F. Escobar, G. Shashidhar Pai, Sabra Ledare Finley, Marisa V. Andrews, Margaret G. Au, Kevin M. Bowling, Zehua Zhu, Sara S. Cathey, Steven A. Skinner, Perrine Charles, Ganka Douglas, Kristin G. Monaghan, Ilse J. Anderson, Stéphanie Valence, Katelyn Payne, Kathleen A. Hibbs, John Pappas, Stacy Hewson, Benjamin D. Solomon, Celia Atkinson, Dorothy K. Grange, Elizabeth E. Palmer, Julien Buratti, Louisa Kalsner
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics
Purpose: To define the clinical characteristics of patients with variants in TCF20, we describe 27 patients, 26 of whom were identified via exome sequencing. We compare detailed clinical data with 17 previously reported patients. Methods: Patients we