Literature DB >> 34087165

Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.

Erfan Aref-Eshghi, Jennifer Kerkhof, Victor P Pedro, Groupe DI France, Mouna Barat-Houari, Nathalie Ruiz-Pallares, Jean-Christophe Andrau, Didier Lacombe, Julien Van-Gils, Patricia Fergelot, Christéle Dubourg, Valerie Cormier-Daire, Sophie Rondeau, François Lecoquierre, Pascale Saugier-Veber, Gaël Nicolas, Gaetan Lesca, Nicolas Chatron, Damien Sanlaville, Antonio Vitobello, Laurence Faivre, Christel Thauvin-Robinet, Frederic Laumonnier, Martine Raynaud, Mariëlle Alders, Marcel Mannens, Peter Henneman, Raoul C Hennekam, Guillaume Velasco, Claire Francastel, Damien Ulveling, Andrea Ciolfi, Simone Pizzi, Marco Tartaglia, Solveig Heide, Delphine Héron, Cyril Mignot, Boris Keren, Sandra Whalen, Alexandra Afenjar, Thierry Bienvenu, Philippe M Campeau, Justine Rousseau, Michael A Levy, Lauren Brick, Mariya Kozenko, Tugce B Balci, Victoria Mok Siu, Alan Stuart, Mike Kadour, Jennifer Masters, Kyoko Takano, Tjitske Kleefstra, Nicole de Leeuw, Michael Field, Marie Shaw, Jozef Gecz, Peter J Ainsworth, Hanxin Lin, David I Rodenhiser, Michael J Friez, Matt Tedder, Jennifer A Lee, Barbara R DuPont, Roger E Stevenson, Steven A Skinner, Charles E Schwartz, David Genevieve, Bekim Sadikovic.   

Abstract

Entities:  

Year:  2021        PMID： 34087165     DOI： 10.1016/j.ajhg.2021.04.022

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  4 in total

Review 1.  Epigenetic genes and epilepsy - emerging mechanisms and clinical applications.

Authors:  Karen M J Van Loo; Gemma L Carvill; Albert J Becker; Karen Conboy; Alica M Goldman; Katja Kobow; Iscia Lopes-Cendes; Christopher A Reid; Erwin A van Vliet; David C Henshall
Journal:  Nat Rev Neurol       Date:  2022-07-20       Impact factor: 44.711

2.  Editorial: Epigenetics of Neurodevelopmental, Neuromuscular and Neurodegenerative Disorders.

Authors:  Fabio Coppedè; Cristina Cereda; Carla Lintas; Andrea Stoccoro
Journal:  Front Mol Neurosci       Date:  2022-06-10       Impact factor: 6.261

Review 3.  Congenital Hyperinsulinism: Current Laboratory-Based Approaches to the Genetic Diagnosis of a Heterogeneous Disease.

Authors:  Thomas I Hewat; Matthew B Johnson; Sarah E Flanagan
Journal:  Front Endocrinol (Lausanne)       Date:  2022-07-07       Impact factor: 6.055

4.  Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders.

Authors:  Michael A Levy; Haley McConkey; Jennifer Kerkhof; Mouna Barat-Houari; Sara Bargiacchi; Elisa Biamino; María Palomares Bralo; Gerarda Cappuccio; Andrea Ciolfi; Angus Clarke; Barbara R DuPont; Mariet W Elting; Laurence Faivre; Timothy Fee; Robin S Fletcher; Florian Cherik; Aidin Foroutan; Michael J Friez; Cristina Gervasini; Sadegheh Haghshenas; Benjamin A Hilton; Zandra Jenkins; Simranpreet Kaur; Suzanne Lewis; Raymond J Louie; Silvia Maitz; Donatella Milani; Angela T Morgan; Renske Oegema; Elsebet Østergaard; Nathalie Ruiz Pallares; Maria Piccione; Simone Pizzi; Astrid S Plomp; Cathryn Poulton; Jack Reilly; Raissa Relator; Rocio Rius; Stephen Robertson; Kathleen Rooney; Justine Rousseau; Gijs W E Santen; Fernando Santos-Simarro; Josephine Schijns; Gabriella Maria Squeo; Miya St John; Christel Thauvin-Robinet; Giovanna Traficante; Pleuntje J van der Sluijs; Samantha A Vergano; Niels Vos; Kellie K Walden; Dimitar Azmanov; Tugce Balci; Siddharth Banka; Jozef Gecz; Peter Henneman; Jennifer A Lee; Marcel M A M Mannens; Tony Roscioli; Victoria Siu; David J Amor; Gareth Baynam; Eric G Bend; Kym Boycott; Nicola Brunetti-Pierri; Philippe M Campeau; John Christodoulou; David Dyment; Natacha Esber; Jill A Fahrner; Mark D Fleming; David Genevieve; Kristin D Kerrnohan; Alisdair McNeill; Leonie A Menke; Giuseppe Merla; Paolo Prontera; Cheryl Rockman-Greenberg; Charles Schwartz; Steven A Skinner; Roger E Stevenson; Antonio Vitobello; Marco Tartaglia; Marielle Alders; Matthew L Tedder; Bekim Sadikovic
Journal:  HGG Adv       Date:  2021-12-03
  4 in total

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