MelissaBRamockiMD

PubMed

• 1 citations
  Clinical Characteristics of Seizures and Epilepsy in Individuals With Recurrent Deletions and Duplications in the 16p11.2 Region.
  Christelle Moufawad El Achkar, Alyssa Rosen, Sudha Kilaru Kessler, Kyle J Steinman, Sarah J Spence, Melissa Ramocki, Elysa Jill Marco, LeeAnne Green Snyder, John E Spi...> ;Neurology. Genetics. 2022 Oct 1
• 114 citations
  16p11.2 deletion and duplication: Characterizing neurologic phenotypes in a large clinically ascertained cohort.
  Kyle J. Steinman, Sarah J. Spence, Melissa B. Ramocki, Monica Proud, Sudha Kilaru Kessler, Elysa J. Marco, LeeAnne Green Snyder, Debra D'Angelo, Qixuan Chen, Wendy K. ...> ;American Journal of Medical Genetics. Part A. 2016 Nov 1
• 107 citations
  Clinical phenotype of the recurrent 1q21.1 copy-number variant.
  Raphael Bernier, Kyle J. Steinman, Beau Reilly, Arianne S. Wallace, Elliott H. Sherr, Nicholas J. Pojman, Heather C Mefford, Jennifer Gerdts, Rachel K. Earl, Ellen Han...> ;Genetics in Medicine. 2016 Apr 1
• 77 citations
  Altered neuronal network and rescue in a human MECP2 duplication model
  S Nageshappa, Cassiano Carromeu, Cleber A. Trujillo, Pinar Mesci, Ira Espuny-Camacho, E Pasciuto, Pierre Vanderhaeghen, Catherine M. Verfaillie, Susanna Raitano, Anuji...> ;Molecular Psychiatry. 2016 Feb 1
• 33 citations
  Dosage Changes of a Segment at 17p13.1 Lead to Intellectual Disability and Microcephaly as a Result of Complex Genetic Interaction of Multiple Genes
  Claudia M.B. Carvalho, Shivakumar Vasanth, Marwan Shinawi, Chad Russell, Melissa B. Ramocki, Chester W. Brown, Jesper Graakjaer, Anne-Bine Skytte, Angela Maria Vianna-...> ;American Journal of Human Genetics. 2014 Nov 6
• 106 citations
  Replicative mechanisms for CNV formation are error prone.
  Claudia M.B. Carvalho, Davut Pehlivan, Melissa B. Ramocki, Ping Fang, Benjamin Alleva, Luis M. Franco, John W. Belmont, P. J. Hastings, James R. Lupski> ;Nature Genetics. 2013 Nov 1
• 20 citations
  Fusion of Large-Scale Genomic Knowledge and Frequency Data Computationally Prioritizes Variants in Epilepsy
  Ian M. Campbell, Mitchell Rao, Sean D. Arredondo, Seema R. Lalani, Zhilian Xia, Sung-Hae L. Kang, Weimin Bi, Amy M. Breman, Janice L. Smith, Carlos A. Bacino, Arthur L...> ;Plos Genetics. 2013 Sep 26
• 34 citations
  TM4SF20 Ancestral Deletion and Susceptibility to a Pediatric Disorder of Early Language Delay and Cerebral White Matter Hyperintensities
  Wojciech Wiszniewski, Jill V. Hunter, Neil A. Hanchard, Jason R. Willer, Chad A. Shaw, Qi Tian, Anna Illner, Xueqing Wang, Sau Wai Cheung, Ankita Patel, Ian M. Campbel...> ;American Journal of Human Genetics. 2013 Aug 8
• 21 citations
  Brief report: regression timing and associated features in MECP2 duplication syndrome.
  Sarika U. Peters, Rachel J. Hundley, A. K. Wilson, Claudia M.B. Carvalho, James R. Lupski, Melissa B. Ramocki> ;Journal of Autism and Developmental Disorders. 2013 Mar 2
• 45 citations
  Overexpression of Methyl-CpG Binding Protein 2 Impairs TH1 Responses
  Tianshu Yang, Melissa B. Ramocki, Jeffrey L. Neul, Wen Lu, Luz Roberts, John M. Knight, Christopher S. Ward, Huda Y. Zoghbi, Farrah Kheradmand, David B. Corry> ;Science Translational Medicine. 2012 Dec 5
• 37 citations
  The Behavioral Phenotype in MECP2 Duplication Syndrome: A Comparison With Idiopathic Autism
  Sarika U. Peters, Rachel J. Hundley, Amy K. Wilson, Zachary Warren, Alison Vehorn, Claudia M.B. Carvalho, James R. Lupski, Melissa B. Ramocki> ;Autism Research. 2013 Feb 1
• 194 citations
  A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders
  Flore Zufferey, Elliott H. Sherr, Noam D. Beckmann, Ellen Hanson, Anne M. Maillard, Loyse Hippolyte, Aurélien Macé, Carina Ferrari, Zoltán Kutalik, Joris Andrieux, Eli...> ;Journal of Medical Genetics. 2012 Oct 1
• 11 citations
  A partial MECP2 duplication in a mildly affected adult male: a putative role for the 3' untranslated region in the MECP2 duplication phenotype
  Neil A. Hanchard, Claudia M.B. Carvalho, Patricia I. Bader, Aaron Thome, Lisa Omo-Griffith, Daniela del Gaudio, Davut Pehlivan, Ping Fang, Christian P. Schaaf, Melissa...> ;BMC Medical Genetics. 2012 Aug 10
• 152 citations
  Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome
  Claudia M.B. Carvalho, Melissa B. Ramocki, Davut Pehlivan, Luis M. Franco, Claudia Gonzaga-Jauregui, Ping Fang, Alanna E. McCall, Eniko K. Pivnick, Stacy Hines-Dowell,...> ;Nature Genetics. 2011 Nov 1
• 37 citations
  Whole-exome sequencing identifies compound heterozygous mutations in WDR62 in siblings with recurrent polymicrogyria.
  David R. Murdock, Gary D. Clark, Matthew N. Bainbridge, Irene Newsham, Yuan Qing Wu, Donna M. Muzny, Sau Wai Cheung, Richard A. Gibbs, Melissa B. Ramocki> ;American Journal of Medical Genetics. Part A. 2011 Sep 1
• 16 citations
  Recurrent partial rhombencephalosynapsis and holoprosencephaly in siblings with a mutation of ZIC2.
  Melissa B. Ramocki, Fernando Scaglia, Pawel Stankiewicz, John W. Belmont, Jeremy Y. Jones, Gary D. Clark> ;American Journal of Medical Genetics. Part A. 2011 Jun 2
• 12 citations
  TGFBR2 deletion in a 20-month-old female with developmental delay and microcephaly.
  Ian M. Campbell, Katarzyna E. Kolodziejska, Michael M. Quach, Varina Wolf, Sau Wai Cheung, Seema R. Lalani, Melissa B. Ramocki, Pawel Stankiewicz> ;American Journal of Medical Genetics. Part A. 2011 Jun 1
• 27 citations
  MECP2 duplications in six patients with complex sex chromosome rearrangements
  Amy M. Breman, Melissa B. Ramocki, Sung-Hae L. Kang, M. Williams, Debra Freedenberg, Ankita Patel, Patricia I. Bader, Sau Wai Cheung> ;European Journal of Human Genetics. 2011 Apr 1
• 5 citations
  Bilateral In Utero Cerebellar Infarction
  Safdar Ansari, Jill V. Hunter, Lisa M. Nassif, Gary D. Clark, Melissa B. Ramocki> ;Journal of Child Neurology. 2011 Jan 24
• 51 citations
  Recurrent Distal 7q11.23 Deletion Including HIP1 and YWHAG Identified in Patients with Intellectual Disabilities, Epilepsy, and Neurobehavioral Problems
  Melissa B. Ramocki, Magdalena Bartnik, Przemyslaw Szafranski, Katarzyna E. Kolodziejska, Zhilian Xia, Jaclyn Bravo, G. Steve Miller, Diana L. Rodriguez, Charles A. Wil...> ;American Journal of Human Genetics. 2010 Dec 10
• 203 citations
  The MECP2 Duplication Syndrome
  Melissa B. Ramocki, Y. Jane Tavyev, Sarika U. Peters> ;American Journal of Medical Genetics. Part A. 2010 May 1
• 4 citations
  Hyperperfusion on magnetic resonance imaging in acute chemotherapy-related leukoencephalopathy.
  Lisa Michael El-Hakam, Melissa B. Ramocki, James John Riviello, Anna Illner> ;Journal of Child Neurology. 2010 Apr 2
• 219 citations
  Autism and other Neuropsychiatric Symptoms are Prevalent in Individuals with MECP2 Duplication Syndrome
  Melissa B. Ramocki, Sarika U. Peters, Y. Jane Tavyev, Feng Zhang, Claudia M.B. Carvalho, Christian P. Schaaf, Ronald Richman, Ping Fang, Daniel G. Glaze, James R. Lups...> ;Annals of Neurology. 2009 Dec 1
• 156 citations
  Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching
  Claudia M.B. Carvalho, Feng Zhang, Pengfei Liu, Ankita Patel, Trilochan Sahoo, Carlos A. Bacino, Chad A. Shaw, Sandra Peacock, Amber Pursley, Y. Jane Tavyev, Melissa B...> ;Human Molecular Genetics. 2009 Jun 15
• 290 citations
  Failure of neuronal homeostasis results in common neuropsychiatric phenotypes
  Melissa B. Ramocki, Huda Y. Zoghbi> ;Nature. 2008 Oct 16
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