PMC Links for Books (Select 4333868) - PMC

Select item 86398321.

MBD5 and MBD6 couple DNA methylation to gene silencing via the J-domain protein SILENZIO

Lucia Ichino, Brandon A. Boone, Luke Strauskulage, C. Jake Harris, Gundeep Kaur, Matthew A. Gladstone, Maverick Tan, Suhua Feng, Yasaman Jami-Alahmadi, Sascha H. Duttke, James A. Wohlschlegel, Xiaodong Cheng, Sy Redding, Steven E. Jacobsen

Science. Author manuscript; available in PMC 2022 Dec 3.

Published before final editing as: Science. 2021 Jun 3 : eabg6130. doi: 10.1126/science.abg6130 [Epub ahead of print]

PMCID:: PMC8639832

Article PDF–1.8M

Select item 81638032.

Transcriptome analysis of MBD5-associated neurodevelopmental disorder (MAND) neural progenitor cells reveals dysregulation of autism-associated genes

Sureni V. Mullegama, Steven D. Klein, Stephen R. Williams, Jeffrey W. Innis, Frank J. Probst, Chad Haldeman-Englert, Julian A. Martinez-Agosto, Ying Yang, Yuchen Tian, Sarah H. Elsea, Toshihiko Ezashi

Sci Rep. 2021; 11: 11295. Published online 2021 May 28. doi: 10.1038/s41598-021-90798-z

PMCID:: PMC8163803

Article PDF–2.1M

Select item 80755733.

Phenotypic Spectrum of Seizure Disorders in MBD5-Associated Neurodevelopmental Disorder

Kenneth A. Myers, Carla Marini, Gemma L. Carvill, Amy McTague, Julie Panetta, Chloe Stutterd, Thorsten Stanley, Samantha Marin, John Nguyen, Carmen Barba, Anna Rosati, Richard H. Scott, Heather C. Mefford, Renzo Guerrini, Ingrid E. Scheffer

Neurol Genet. 2021 Apr; 7(2): e579. Published online 2021 Mar 18. doi: 10.1212/NXG.0000000000000579

PMCID:: PMC8075573

Article PDF–257K

Select item 74972894.

The Human Gene Mutation Database (HGMD^®): optimizing its use in a clinical diagnostic or research setting

Peter D. Stenson, Matthew Mort, Edward V. Ball, Molly Chapman, Katy Evans, Luisa Azevedo, Matthew Hayden, Sally Heywood, David S. Millar, Andrew D. Phillips, David N. Cooper

Hum Genet. 2020; 139(10): 1197–1207. Published online 2020 Jun 28. doi: 10.1007/s00439-020-02199-3

PMCID:: PMC7497289

Article PDF–2.5M

Select item 49892175.

Clinical and Molecular Aspects of MBD5-Associated Neurodevelopmental Disorder (MAND)

Sureni V Mullegama, Sarah H Elsea

Eur J Hum Genet. 2016 Aug; 24(9): 1376. Published online 2016 Aug 12. doi: 10.1038/ejhg.2016.77

Corrects:: Eur J Hum Genet. 2016 Aug; 24(9): 1235–1243.

PMCID:: PMC4989217

Correction PDF–37K

Select item 47950526.

MBD5 haploinsufficiency is associated with sleep disturbance and disrupts circadian pathways common to Smith–Magenis and fragile X syndromes

Sureni V Mullegama, Loren Pugliesi, Brooke Burns, Zalak Shah, Raiha Tahir, Yanghong Gu, David L Nelson, Sarah H Elsea

Eur J Hum Genet. 2015 Jun; 23(6): 781–789. Published online 2014 Oct 1. doi: 10.1038/ejhg.2014.200

PMCID:: PMC4795052

Article PDF–1.4M

Select item 47564767.

Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities

Jennelle C. Hodge, Elyse Mitchell, Vamsee Pillalamarri, Tomi L. Toler, Frank Bartel, Hutton M. Kearney, Ying S. Zou, Wen-Hann Tan, Carrie Hanscom, Salman Kirmani, Rae R. Hanson, Steven A. Skinner, Curtis Rogers, David B. Everman, Ellen Boyd, Sureni V. Mullegama, Debra Keelean-Fuller, Cynthia M. Powell, Sarah H. Elsea, Cynthia C. Morton, James F. Gusella, Barbara DuPont, Alka Chaubey, Angela E. Lin, Michael E. Talkowski

Mol Psychiatry. Author manuscript; available in PMC 2016 Feb 17.

Published in final edited form as: Mol Psychiatry. 2014 Mar; 19(3): 368–379. Published online 2013 Apr 16. doi: 10.1038/mp.2013.42

PMCID:: PMC4756476

Article PDF–1.4M

Select item 44250398.

Phenotypic and Molecular Convergence of 2q23.1 Deletion Syndrome with Other Neurodevelopmental Syndromes Associated with Autism Spectrum Disorder

Sureni V. Mullegama, Joseph T. Alaimo, Li Chen, Sarah H. Elsea

Int J Mol Sci. 2015 Apr; 16(4): 7627–7643. Published online 2015 Apr 7. doi: 10.3390/ijms16047627

PMCID:: PMC4425039

Article PDF–1.4M

Select item 41541299.

Disruption of Mbd5 in mice causes neuronal functional deficits and neurobehavioral abnormalities consistent with 2q23.1 microdeletion syndrome

Vladimir Camarena, Lei Cao, Clemer Abad, Alexander Abrams, Yaima Toledo, Kimi Araki, Masatake Araki, Katherina Walz, Juan I Young

EMBO Mol Med. 2014 Aug; 6(8): 1003–1015. Published online 2014 Jul 7. doi: 10.15252/emmm.201404044

PMCID:: PMC4154129

Article PDF–948K

Select item 386540210.

Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder

Sureni V Mullegama, Jill A Rosenfeld, Carmen Orellana, Bregje W M van Bon, Sara Halbach, Elena A Repnikova, Lauren Brick, Chumei Li, Lucie Dupuis, Monica Rosello, Swaroop Aradhya, D James Stavropoulos, Kandamurugu Manickam, Elyse Mitchell, Jennelle C Hodge, Michael E Talkowski, James F Gusella, Kory Keller, Jonathan Zonana, Stuart Schwartz, Robert E Pyatt, Darrel J Waggoner, Lisa G Shaffer, Angela E Lin, Bert B A de Vries, Roberto Mendoza-Londono, Sarah H Elsea

Eur J Hum Genet. 2014 Jan; 22(1): 57–63. Published online 2013 May 1. doi: 10.1038/ejhg.2013.67

PMCID:: PMC3865402

Article PDF–843K

Select item 383106511.

Extended spectrum of MBD5 mutations in neurodevelopmental disorders

Céline Bonnet, Asma Ali Khan, Emmanuel Bresso, Charlène Vigouroux, Mylène Béri, Sarah Lejczak, Bénédicte Deemer, Joris Andrieux, Christophe Philippe, Anne Moncla, Irina Giurgea, Marie-Dominique Devignes, Bruno Leheup, Philippe Jonveaux

Eur J Hum Genet. 2013 Dec; 21(12): 1457–1461. Published online 2013 Feb 20. doi: 10.1038/ejhg.2013.22

PMCID:: PMC3831065

Article PDF–1.2M

Select item 323671712.

2q23.1 microdeletion identified by array comparative genomic hybridisation: an emerging phenotype with Angelman-like features?

Sylvie Jaillard, Christèle Dubourg, Marion Gérard-Blanluet, Andrée Delahaye, Laurent Pasquier, Céline Dupont, Catherine Henry, Anne-Claude Tabet, Josette Lucas, Azzedine Aboura, Véronique David, Brigitte Benzacken, Sylvie Odent, Eva Pipiras

J Med Genet. Author manuscript; available in PMC 2011 Dec 14.

Published in final edited form as: J Med Genet. 2009 Dec; 46(12): 847–855. Published online 2008 Sep 23. doi: 10.1136/jmg.2008.058156

PMCID:: PMC3236717

Article

Select item 318883913.

Assessment of 2q23.1 Microdeletion Syndrome Implicates MBD5 as a Single Causal Locus of Intellectual Disability, Epilepsy, and Autism Spectrum Disorder

Michael E. Talkowski, Sureni V. Mullegama, Jill A. Rosenfeld, Bregje W.M. van Bon, Yiping Shen, Elena A. Repnikova, Julie Gastier-Foster, Devon Lamb Thrush, Sekar Kathiresan, Douglas M. Ruderfer, Colby Chiang, Carrie Hanscom, Carl Ernst, Amelia M. Lindgren, Cynthia C. Morton, Yu An, Caroline Astbury, Louise A. Brueton, Klaske D. Lichtenbelt, Lesley C. Ades, Marco Fichera, Corrado Romano, Jeffrey W. Innis, Charles A. Williams, Dennis Bartholomew, Margot I. Van Allen, Aditi Parikh, Lilei Zhang, Bai-Lin Wu, Robert E. Pyatt, Stuart Schwartz, Lisa G. Shaffer, Bert B.A. de Vries, James F. Gusella, Sarah H. Elsea

Am J Hum Genet. 2011 Oct 7; 89(4): 551–563. doi: 10.1016/j.ajhg.2011.09.011

PMCID:: PMC3188839

Article PDF–905K

Select item 298725714.

Haploinsufficiency of MBD5 associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures

Stephen R Williams, Sureni V Mullegama, Jill A Rosenfeld, Aditi I Dagli, Eli Hatchwell, William P Allen, Charles A Williams, Sarah H Elsea

Eur J Hum Genet. 2010 Apr; 18(4): 436–441. Published online 2009 Nov 11. doi: 10.1038/ejhg.2009.199

PMCID:: PMC2987257

Article PDF–448K

Select item 298718015.

The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype

Bregje WM van Bon, David A Koolen, Louise Brueton, Dominic McMullan, Klaske D Lichtenbelt, Lesley C Adès, Gregory Peters, Kate Gibson, Francesca Novara, Tiziano Pramparo, Bernardo Dalla Bernardina, Leonardo Zoccante, Umberto Balottin, Fausta Piazza, Vanna Pecile, Paolo Gasparini, Veronica Guerci, Marleen Kets, Rolph Pfundt, Arjan P de Brouwer, Joris A Veltman, Nicole de Leeuw, Meredith Wilson, Jayne Antony, Santina Reitano, Daniela Luciano, Marco Fichera, Corrado Romano, Han G Brunner, Orsetta Zuffardi, Bert BA de Vries

Eur J Hum Genet. 2010 Feb; 18(2): 163–170. Published online 2009 Oct 7. doi: 10.1038/ejhg.2009.152

Correction in:: Eur J Hum Genet. 2010 Oct; 18(10): 1171.

Correction in:: Eur J Hum Genet. 2010 Feb; 18(2): 170.

PMCID:: PMC2987180

Article PDF–628K

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