RamziHNasirMD

PubMed

• 43 citations
  Mutations in mitochondrial enzyme GPT2 cause metabolic dysfunction and neurological disease with developmental and progressive features
  Qing Ouyang, Tojo Nakayama, Ozan Baytas, Shawn M. Davidson, Chendong Yang, Michael Schmidt, Sofia B. Lizarraga, Sasmita Mishra, Malak Ei-Quessny, Saima Niaz, Mirrat Gu...> ;Proceedings of the National Academy of Sciences of the United States of America. 2016 Sep 20
• 53 citations
  Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination
  Tojo Nakayama, Almundher Al-Maawali, Malak El-Quessny, Anna Rajab, Samir Khalil, Joan M. Stoler, Wen-Hann Tan, Ramzi Nasir, Klaus Schmitz-Abe, R. Sean Hill, Jennifer N...> ;American Journal of Human Genetics. 2015 May 7
• 317 citations
  Using Whole-Exome Sequencing to Identify Inherited Causes of Autism
  Timothy W. Yu, Maria H. Chahrour, Michael E. Coulter, Sarn Jiralerspong, Kazuko Okamura-Ikeda, Bulent Ataman, Klaus Schmitz-Abe, David A. Harmin, Mazhar Adli, Athar N....> ;Neuron. 2013 Jan 23
• 81 citations
  Cognitive and behavioral characterization of 16p11.2 deletion syndrome.
  Ellen Hanson, Ramzi Nasir, Alexa Fong, Alyss Lian, Rachel J. Hundley, Yiping Shen, Bai-Lin Wu, Ingrid A. Holm, David T. Miller> ;Journal of Developmental and Behavioral Pediatrics. 2010 Oct 1
• 209 citations
  Deletions of NRXN1 (Neurexin-1) Predispose to a Wide Spectrum of Developmental Disorders
  Michael S L Ching, Yiping Shen, Wen-Hann Tan, Shafali S. Jeste, Eric M. Morrow, Xiaoli Chen, Nahit Motavalli Mukaddes, Seung Yun Yoo, Ellen Hanson, Rachel J. Hundley, ...> ;American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics. 2010 Jun 1
• 255 citations
  Clinical Genetic Testing for Patients With Autism Spectrum Disorders
  Yiping Shen, Kira A. Dies, Ingrid A. Holm, Carolyn Bridgemohan, Magdi M. Sobeih, Elizabeth B. Caronna, Karen J. Miller, Jean A. Frazier, Iris Silverstein, Jonathan Pic...> ;Pediatrics. 2010 Apr 1
• 28 citations
  Developmental and Degenerative Features in a Complicated Spastic Paraplegia
  M. Chiara Manzini, Anna Rajab, Thomas M. Maynard, Ganeshwaran H. Mochida, Wen-Hann Tan, Ramzi Nasir, R. Sean Hill, Danielle Gleason, Muna Al Saffar, Jennifer N. Partlo...> ;Annals of Neurology. 2010 Apr 1
• 253 citations
  Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders
  David T. Miller, Yiping Shen, Lauren A. Weiss, Joshua M. Korn, Irina Anselm, Carolyn Bridgemohan, Gerald F. Cox, Hope Dickinson, Jennifer K. Gentile, David J. Harris, ...> ;Journal of Medical Genetics. 2009 Apr 1
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