PMC Links for Books (Select 4788646) - PMC

Links from Books

Items: 1 to 20 of 22

<< First< Prev

Page of 2

Select item 59660161.

Parental Mosaicism in “De Novo” Epileptic Encephalopathies

Candace T. Myers, Georgina Hollingsworth, Alison M. Muir, Amy L. Schneider, Zoe Thuesmunn, Allison Knupp, Chontelle King, Amy Lacroix, Michele G. Mehaffey, Samuel F. Berkovic, Gemma L. Carvill, Lynette G. Sadleir, Ingrid E. Scheffer, Heather C. Mefford

N Engl J Med. Author manuscript; available in PMC 2018 Oct 26.

Published in final edited form as: N Engl J Med. 2018 Apr 26; 378(17): 1646–1648. doi: 10.1056/NEJMc1714579

PMCID:: PMC5966016

Article PDF–288K

Select item 59456792.

Exome sequencing has higher diagnostic yield compared to simulated disease-specific panels in children with suspected monogenic disorders

Oliver James Dillon, Sebastian Lunke, Zornitza Stark, Alison Yeung, Natalie Thorne, Melbourne Genomics Health Alliance, Clara Gaff, Susan M. White, Tiong Yang Tan

Eur J Hum Genet. 2018 May; 26(5): 644–651. Published online 2018 Feb 16. doi: 10.1038/s41431-018-0099-1

PMCID:: PMC5945679

Abstract Article PDF–696K

Select item 59451933.

De Novo Mutations and Rare Variants Occurring in NMDA Receptors

Wenshu XiangWei, Yuwu Jiang, Hongjie Yuan

Curr Opin Physiol. Author manuscript; available in PMC 2019 Apr 1.

Published in final edited form as: Curr Opin Physiol. 2018 Apr; 2: 27–35. Published online 2017 Dec 27. doi: 10.1016/j.cophys.2017.12.013

PMCID:: PMC5945193

Abstract Article PDF–1.0M

Select item 59327554.

Detection rate of causal variants in severe childhood epilepsy is highest in patients with seizure onset within the first four weeks of life

David Staněk, Petra Laššuthová, Katalin Štěrbová, Markéta Vlčková, Jana Neupauerová, Marcela Krůtová, Pavel Seeman

Orphanet J Rare Dis. 2018; 13: 71. Published online 2018 May 2. doi: 10.1186/s13023-018-0812-8

PMCID:: PMC5932755

Abstract Article PDF–954K

Select item 58372145.

De novo mutations in GRIN1 cause extensive bilateral polymicrogyria

Andrew E Fry, Katherine A Fawcett, Nathanel Zelnik, Hongjie Yuan, Belinda A N Thompson, Lilach Shemer-Meiri, Thomas D Cushion, Hood Mugalaasi, David Sims, Neil Stoodley, Seo-Kyung Chung, Mark I Rees, Chirag V Patel, Louise A Brueton, Valérie Layet, Fabienne Giuliano, Michael P Kerr, Ehud Banne, Vardiella Meiner, Tally Lerman-Sagie, Katherine L Helbig, Laura H Kofman, Kristin M Knight, Wenjuan Chen, Varun Kannan, Chun Hu, Hirofumi Kusumoto, Jin Zhang, Sharon A Swanger, Gil H Shaulsky, Ghayda M Mirzaa, Alison M Muir, Heather C Mefford, William B Dobyns, Amanda B Mackenzie, Jonathan G L Mullins, Johannes R Lemke, Nadia Bahi-Buisson, Stephen F Traynelis, Heledd F Iago, Daniela T Pilz

Brain. 2018 Mar; 141(3): 698–712. Published online 2018 Jan 22. doi: 10.1093/brain/awx358

PMCID:: PMC5837214

Abstract Article PDF–698K

Select item 57104056.

Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions

Tiong Yang Tan, Oliver James Dillon, Zornitza Stark, Deborah Schofield, Khurshid Alam, Rupendra Shrestha, Belinda Chong, Dean Phelan, Gemma R. Brett, Emma Creed, Anna Jarmolowicz, Patrick Yap, Maie Walsh, Lilian Downie, David J. Amor, Ravi Savarirayan, George McGillivray, Alison Yeung, Heidi Peters, Susan J. Robertson, Aaron J. Robinson, Ivan Macciocca, Simon Sadedin, Katrina Bell, Alicia Oshlack, Peter Georgeson, Natalie Thorne, Clara Gaff, Susan M. White

JAMA Pediatr. 2017 Sep; 171(9): 855–862. Prepublished online 2017 Jul 31. Published online 2017 Sep 5. doi: 10.1001/jamapediatrics.2017.1755

PMCID:: PMC5710405

Abstract Article

Select item 57087017.

Molecular diagnosis of patients with epilepsy and developmental delay using a customized panel of epilepsy genes

Laura Ortega-Moreno, Beatriz G. Giráldez, Victor Soto-Insuga, Rebeca Losada-Del Pozo, María Rodrigo-Moreno, Cristina Alarcón-Morcillo, Gema Sánchez-Martín, Esther Díaz-Gómez, Rosa Guerrero-López, José M. Serratosa, Grupo Español de Genética de las Epilepsias de la Infancia (GEGEI)

PLoS One. 2017; 12(11): e0188978. Published online 2017 Nov 30. doi: 10.1371/journal.pone.0188978

PMCID:: PMC5708701

Abstract Article PDF–1.2M

Select item 56560508.

GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects

Konrad Platzer, Hongjie Yuan, Hannah Schütz, Alexander Winschel, Wenjuan Chen, Chun Hu, Hirofumi Kusumoto, Henrike O Heyne, Katherine L Helbig, Sha Tang, Marcia C Willing, Brad T Tinkle, Darius J Adams, Christel Depienne, Boris Keren, Cyril Mignot, Eirik Frengen, Petter Strømme, Saskia Biskup, Dennis Döcker, Tim M Strom, Heather C Mefford, Candace T Myers, Alison M Muir, Amy LaCroix, Lynette Sadleir, Ingrid E Scheffer, Eva Brilstra, Mieke M van Haelst, Jasper J van der Smagt, Levinus A Bok, Rikke S Møller, Uffe B Jensen, John J Millichap, Anne T Berg, Ethan M Goldberg, Isabelle De Bie, Stephanie Fox, Philippe Major, Julie R Jones, Elaine H Zackai, Rami Abou Jamra, Arndt Rolfs, Richard J Leventer, John A Lawson, Tony Roscioli, Floor E Jansen, Emmanuelle Ranza, Christian M Korff, Anna-Elina Lehesjoki, Carolina Courage, Tarja Linnankivi, Douglas R Smith, Christine Stanley, Mark Mintz, Dianalee McKnight, Amy Decker, Wen-Hann Tan, Mark A Tarnopolsky, Lauren I Brady, Markus Wolff, Lutz Dondit, Helio F Pedro, Sarah E Parisotto, Kelly L Jones, Anup D Patel, David N Franz, Rena Vanzo, Elysa Marco, Judith D Ranells, Nataliya Di Donato, William B Dobyns, Bodo Laube, Stephen F Traynelis, Johannes R Lemke

J Med Genet. Author manuscript; available in PMC 2017 Oct 25.

Published in final edited form as: J Med Genet. 2017 Jul; 54(7): 460–470. Published online 2017 Apr 4. doi: 10.1136/jmedgenet-2016-104509

PMCID:: PMC5656050

Abstract Article PDF–580K

Select item 56375239.

GRIN1 mutation associated with intellectual disability alters NMDA receptor trafficking and function

Wenjuan Chen, Christine Shieh, Sharon A Swanger, Anel Tankovic, Margaret Au, Marianne McGuire, Michele Tagliati, John M Graham, Suneeta Madan-Khetarpal, Stephen F Traynelis, Hongjie Yuan, Tyler Mark Pierson

J Hum Genet. Author manuscript; available in PMC 2017 Oct 12.

Published in final edited form as: J Hum Genet. 2017 Jun; 62(6): 589–597. Published online 2017 Feb 23. doi: 10.1038/jhg.2017.19

PMCID:: PMC5637523

Abstract Article PDF–654K

Select item 535416910.

Whole exome sequencing in patients with white matter abnormalities

Adeline Vanderver, Cas Simons, Guy Helman, Joanna Crawford, Nicole I. Wolf, Geneviève Bernard, Amy Pizzino, Johanna L. Schmidt, Asako Takanohashi, David Miller, Amirah Khouzam, Vani Rajan, Erica Ramos, Shimul Chowdhury, Tina Hambuch, Kelin Ru, Gregory J. Baillie, Sean M. Grimmond, Ljubica Caldovic, Joseph Devaney, Miriam Bloom, Sarah H. Evans, Jennifer LP. Murphy, Nathan McNeill, Brent L. Fogel, The Leukodystrophy Study Group, Raphael Schiffmann, Marjo S. van der Knaap, Ryan J. Taft

Ann Neurol. Author manuscript; available in PMC 2017 Jun 1.

Published in final edited form as: Ann Neurol. 2016 Jun; 79(6): 1031–1037. Published online 2016 May 9. doi: 10.1002/ana.24650

PMCID:: PMC5354169

Abstract Article PDF–504K

Select item 531550311.

Novel homozygous missense variant of GRIN1 in two sibs with intellectual disability and autistic features without epilepsy

Massimiliano Rossi, Nicolas Chatron, Audrey Labalme, Dorothée Ville, Maryline Carneiro, Patrick Edery, Vincent des Portes, Johannes R Lemke, Damien Sanlaville, Gaetan Lesca

Eur J Hum Genet. 2017 Mar; 25(3): 376–380. Published online 2017 Jan 4. doi: 10.1038/ejhg.2016.163

PMCID:: PMC5315503

Abstract Article PDF–876K

Select item 509917712.

Mutations in HECW2 are associated with intellectual disability and epilepsy

Jonatan Halvardson, Jin J Zhao, Ammar Zaghlool, Christian Wentzel, Patrik Georgii-Hemming, Else Månsson, Helena Ederth Sävmarker, Göran Brandberg, Cecilia Soussi Zander, Ann-Charlotte Thuresson, Lars Feuk

J Med Genet. 2016 Oct; 53(10): 697–704. Published online 2016 Jun 22. doi: 10.1136/jmedgenet-2016-103814

PMCID:: PMC5099177

Abstract Article PDF–1.1M

Select item 493009013.

Novel genetic causes for cerebral visual impairment

Daniëlle GM Bosch, F Nienke Boonstra, Nicole de Leeuw, Rolph Pfundt, Willy M Nillesen, Joep de Ligt, Christian Gilissen, Shalini Jhangiani, James R Lupski, Frans PM Cremers, Bert BA de Vries

Eur J Hum Genet. 2016 May; 24(5): 660–665. Published online 2015 Sep 9. doi: 10.1038/ejhg.2015.186

PMCID:: PMC4930090

Abstract Article PDF–1.1M

Select item 489831214.

Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy

Johannes R. Lemke, Kirsten Geider, Katherine L. Helbig, Henrike O. Heyne, Hannah Schütz, Julia Hentschel, Carolina Courage, Christel Depienne, Caroline Nava, Delphine Heron, Rikke S. Møller, Helle Hjalgrim, Dennis Lal, Bernd A. Neubauer, Peter Nürnberg, Holger Thiele, Gerhard Kurlemann, Georgianne L. Arnold, Vikas Bhambhani, Deborah Bartholdi, Christeen Ramane J. Pedurupillay, Doriana Misceo, Eirik Frengen, Petter Strømme, Dennis J. Dlugos, Emily S. Doherty, Emilia K. Bijlsma, Claudia A. Ruivenkamp, Mariette J.V. Hoffer, Amy Goldstein, Deepa S. Rajan, Vinodh Narayanan, Keri Ramsey, Newell Belnap, Isabelle Schrauwen, Ryan Richholt, Bobby P.C. Koeleman, Joaquim Sá, Carla Mendonça, Carolien G.F. de Kovel, Sarah Weckhuysen, Katia Hardies, Peter De Jonghe, Linda De Meirleir, Mathieu Milh, Catherine Badens, Marine Lebrun, Tiffany Busa, Christine Francannet, Amélie Piton, Erik Riesch, Saskia Biskup, Heinrich Vogt, Thomas Dorn, Ingo Helbig, Jacques L. Michaud, Bodo Laube, Steffen Syrbe

Neurology. 2016 Jun 7; 86(23): 2171–2178. doi: 10.1212/WNL.0000000000002740

PMCID:: PMC4898312

Abstract Article PDF–241K

Select item 479149015.

Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios

Xiaolin Zhu, Slavé Petrovski, Pingxing Xie, Elizabeth K. Ruzzo, Yi-Fan Lu, K. Melodi McSweeney, Bruria Ben-Zeev, Andreea Nissenkorn, Yair Anikster, Danit Oz-Levi, Ryan S. Dhindsa, Yuki Hitomi, Kelly Schoch, Rebecca C. Spillmann, Gali Heimer, Dina Marek-Yagel, Michal Tzadok, Yujun Han, Gordon Worley, Jennifer Goldstein, Yong-Hui Jiang, Doron Lancet, Elon Pras, Vandana Shashi, Duncan McHale, Anna C. Need, David B. Goldstein

Genet Med. 2015 Oct; 17(10): 774–781. Published online 2015 Jan 15. doi: 10.1038/gim.2014.191

PMCID:: PMC4791490

Abstract Article PDF–4.8M

Select item 473192516.

Timing, rates and spectra of human germline mutation

Raheleh Rahbari, Arthur Wuster, Sarah J. Lindsay, Robert J. Hardwick, Ludmil B. Alexandrov, Saeed Al Turki, Anna Dominiczak, Andrew Morris, David Porteous, Blair Smith, Michael R. Stratton, UK10K Consortium, Matthew E. Hurles

Nat Genet. Author manuscript; available in PMC 2016 Jun 14.

Published in final edited form as: Nat Genet. 2016 Feb; 48(2): 126–133. Published online 2015 Dec 14. doi: 10.1038/ng.3469

PMCID:: PMC4731925

Abstract Article PDF–1.6M

Select item 454475317.

Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W. Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector, Karl Voelkerding, Heidi L. Rehm

Genet Med. Author manuscript; available in PMC 2015 Nov 1.

Published in final edited form as: Genet Med. 2015 May; 17(5): 405–424. Published online 2015 Mar 5. doi: 10.1038/gim.2015.30

PMCID:: PMC4544753

Abstract Article PDF–960K

Select item 421528718.

Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing

Claire Redin, Bénédicte Gérard, Julia Lauer, Yvan Herenger, Jean Muller, Angélique Quartier, Alice Masurel-Paulet, Marjolaine Willems, Gaétan Lesca, Salima El-Chehadeh, Stéphanie Le Gras, Serge Vicaire, Muriel Philipps, Michaël Dumas, Véronique Geoffroy, Claire Feger, Nicolas Haumesser, Yves Alembik, Magalie Barth, Dominique Bonneau, Estelle Colin, Hélène Dollfus, Bérénice Doray, Marie-Ange Delrue, Valérie Drouin-Garraud, Elisabeth Flori, Mélanie Fradin, Christine Francannet, Alice Goldenberg, Serge Lumbroso, Michèle Mathieu-Dramard, Dominique Martin-Coignard, Didier Lacombe, Gilles Morin, Anne Polge, Sylvie Sukno, Christel Thauvin-Robinet, Julien Thevenon, Martine Doco-Fenzy, David Genevieve, Pierre Sarda, Patrick Edery, Bertrand Isidor, Bernard Jost, Laurence Olivier-Faivre, Jean-Louis Mandel, Amélie Piton

J Med Genet. 2014 Nov; 51(11): 724–736. Published online 2014 Aug 28. doi: 10.1136/jmedgenet-2014-102554

PMCID:: PMC4215287

Abstract Article PDF–2.6M

Select item 377301119.

De novo mutations in the classic epileptic encephalopathies

Epi4K and EPGP Investigators

Nature. Author manuscript; available in PMC 2014 Mar 13.

Published in final edited form as: Nature. 2013 Sep 12; 501(7466): 217–221. Published online 2013 Aug 11. doi: 10.1038/nature12439

PMCID:: PMC3773011

Abstract Article PDF–764K

Select item 305942720.

Excess of De Novo Deleterious Mutations in Genes Associated with Glutamatergic Systems in Nonsyndromic Intellectual Disability

Fadi F. Hamdan, Julie Gauthier, Yoichi Araki, Da-Ting Lin, Yuhki Yoshizawa, Kyohei Higashi, A-Reum Park, Dan Spiegelman, Sylvia Dobrzeniecka, Amélie Piton, Hideyuki Tomitori, Hussein Daoud, Christine Massicotte, Edouard Henrion, Ousmane Diallo, S2D Group, Masoud Shekarabi, Claude Marineau, Michael Shevell, Bruno Maranda, Grant Mitchell, Amélie Nadeau, Guy D'Anjou, Michel Vanasse, Myriam Srour, Ronald G. Lafrenière, Pierre Drapeau, Jean Claude Lacaille, Eunjoon Kim, Jae-Ran Lee, Kazuei Igarashi, Richard L. Huganir, Guy A. Rouleau, Jacques L. Michaud

Am J Hum Genet. 2011 Mar 11; 88(3): 306–316. doi: 10.1016/j.ajhg.2011.02.001

Correction in:: Am J Hum Genet. 2011 Apr 8; 88(4): 516.

PMCID:: PMC3059427

Abstract Article PDF–981K

<< First< Prev

Page of 2

Next >Last >>

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from Books

Items: 1 to 20 of 22

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity