MargaretElizabethRossMD, PhD, FANA

PubMed

• 4 citations
  CyclinD2-mediated regulation of neurogenic output from the retinal ciliary margin is perturbed in albinism.
  Nefeli Slavi, Revathi Balasubramanian, Melissa Ann Lee, Michael Liapin, Rachel Oaks-Leaf, John Peregrin, Anna Potenski, Carol Marie Troy, Margaret Elizabeth Ross, Eloi...> ;Neuron. 2023 Jan 4
• 1 citations
  Activation of RhoC by regulatory ubiquitination is mediated by LNX1 and suppressed by LIS1.
  Stanislav Kholmanskikh, Shawn Singh, M Elizabeth Ross> ;Scientific Reports. 2022 Oct 3
• 2 citations
  CIC missense variants contribute to susceptibility for spina bifida.
  Xiao Han, Xuanye Cao, Vanessa Aguiar-Pulido, Wei Yang, Menuka Karki, Paula Andrea Pimienta Ramirez, Robert M Cabrera, Ying Linda Lin, Bogdan J Wlodarczyk, Gary M Shaw,...> ;Human Mutation. 2022 Dec 1
• Spontaneous generation of ASD astrocytes.
  Megan Allen, Ben S Huang, Michael J Notaras, Aiman Lodhi, Estibaliz Barrio-Alonso, Pablo J Lituma, Paul Wolujewicz, Jonathan Witztum, Francesco Longo, Maoshan Chen, Da...> ;Molecular psychiatry. 2022 May 1
• 22 citations
  Astrocytes derived from ASD individuals alter behavior and destabilize neuronal activity through aberrant Casignaling.
  Megan Allen, Ben S Huang, Michael J Notaras, Aiman Lodhi, Estibaliz Barrio-Alonso, Pablo J Lituma, Paul Wolujewicz, Jonathan Witztum, Francesco Longo, Maoshan Chen, Da...> ;Molecular Psychiatry. 2022 May 1
• 2 citations
  Adult-onset Niemann-Pick disease type C masquerading as spinocerebellar ataxia.
  Mary L Vo, Tess Levy, Shenela Lakhani, Chengbing Wang, M Elizabeth Ross> ;Molecular Genetics & Genomic Medicine. 2022 Apr 1
• 7 citations
  Systems biology analysis of human genomes points to key pathways conferring spina bifida risk.
  Vanessa Aguiar-Pulido, Paul Wolujewicz, Alexander Martinez-Fundichely, Eran Elhaik, Gaurav Thareja, Alice Abdel Aleem, Nader Chalhoub, Tawny Cuykendall, Jamel Al-Zamer...> ;Proceedings of the National Academy of Sciences of the United States of America. 2021 Dec 21
• 10 citations
  Unraveling the complex genetics of neural tube defects: From biological models to human genomics and back.
  Paul Wolujewicz, John W. Steele, Julia A. Kaltschmidt, Richard H. Finnell, Margaret Elizabeth Ross> ;Genesis. 2021 Oct 29
• Author Correction: Threshold for neural tube defect risk by accumulated singleton loss-of-function variants.
  Zhongzhong Chen, Yunping Lei, Yufang Zheng, Vanessa Aguiar-Pulido, M Elizabeth Ross, Rui Peng, Li Jin, Ting Zhang, Richard H Finnell, Hongyan Wang> ;Cell Research. 2021 Apr 1
• 7 citations
  Genome-wide investigation identifies a rare copy-number variant burden associated with human spina bifida.
  Paul Wolujewicz, Vanessa Aguiar-Pulido, Alice AbdelAleem, Vidya Nair, Gaurav Thareja, Karsten Suhre, Gary M. Shaw, Richard H. Finnell, Olivier Elemento, M. Elizabeth Ross> ;Genetics in Medicine. 2021 Mar 8
• 99 citations
  A spatially resolved brain region- and cell type-specific isoform atlas of the postnatal mouse brain
  Anoushka Joglekar, Andrey D. Prjibelski, Ahmed Mahfouz, Paul Collier, Susan Lin, Anna Katharina Schlusche, Jordan Marrocco, Stephen R. Williams, Bettina Haase, Ashley ...> ;Nature Communications. 2021 Jan 19
• 5 citations
  Unlocking the genetic complexity of congenital hydrocephalus.
  M. Elizabeth Ross> ;Nature Medicine. 2020 Nov 1
• 10 citations
  Clinical and genomic characteristics of LAMA2 related congenital muscular dystrophy in a patients' cohort from Qatar. A population specific founder variant
  Alice Abdel Aleem, Mahmoud F. Elsaid, Nader Chalhoub, Almahdi Chakroun, Khalid Mohamed, Rana al-Shami, Omer F. Kuzu, Reem Babiker Mohamed, Khalid Ibrahim, Noora AlMudh...> ;Neuromuscular Disorders. 2020 Apr 17
• 13 citations
  Loss of RAD9B impairs early neural development and contributes to the risk for human spina bifida.
  Xuanye Cao, Tian Tian, John W. Steele, Robert M. Cabrera, Vanessa Aguiar-Pulido, Shruti Wadhwa, Nikitha Bhavani, Patrick Bi, Nick H. Gargurevich, Ethan N. Hoffman, Chu...> ;Human Mutation. 2020 Jan 3
• 21 citations
  Tight junction protein occludin regulates progenitor Self-Renewal and survival in developing cortex.
  Raphael M Bendriem, Shawn Singh, Alice Abdel Aleem, David A. Antonetti, M. Elizabeth Ross> ;Elife. 2019 Dec 3
• 5 citations
  The search for genetic determinants of human neural tube defects
  Paul Wolujewicz, M. Elizabeth Ross> ;Current Opinion in Pediatrics. 2019 Dec 1
• 18 citations
  Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome.
  Pierre Vabres, Arthur Sorlin, S.S. Kholmanskikh, Bénédicte Demeer, Judith St-Onge, Yannis Duffourd, Paul Kuentz, Jean Benoît Courcet, V. Carmignac, Philippine Garret, ...> ;Nature Genetics. 2019 Sep 30
• 2 citations
  Author Correction: Threshold for neural tube defect risk by accumulated singleton loss-of-function variants (Cell Research, (2018), 28, 10, (1039-1041), 10.1038/s41422...
  Zhongzhong Chen, Yunping Lei, Yufang Zheng, Vanessa Aguiar-Pulido, M. Elizabeth Ross, Rui Peng, Li Jin, Ting Zhang, Richard H. Finnell, Hongyan Wang> ;Cell Research. 2019 Sep 1
• 42 citations
  SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
  Bobby G. Ng, Paulina Sosicka, Satish Agadi, Mohammed Almannai, Carlos A. Bacino, Rita Barone, Lorenzo D. Botto, Jennifer Burton, Colleen M. Carlston, Brian H.Y. Chung,...> ;Human Mutation. 2019 Jul 1
• 21 citations
  Dominant negative GPR161 rare variants are risk factors of human spina bifida
  Sung Eun Kim, Yunping Lei, Sun Hee Hwang, Bogdan J. Wlodarczyk, Saikat Mukhopadhyay, Gary M. Shaw, M. Elizabeth Ross, Richard H. Finnell> ;Human Molecular Genetics. 2019 Jan 15
• 169 citations
  Single-cell isoform RNA sequencing characterizes isoforms in thousands of cerebellar cells
  Ishaan Gupta, Paul Collier, Bettina Haase, Ahmed Mahfouz, Anoushka Joglekar, Taylor Floyd, Frank Koopmans, Ben A. Barres, August B. Smit, Steven A. Sloan, Wenjie Luo, ...> ;Nature Biotechnology. 2018 Oct 15
• 37 citations
  Threshold for neural tube defect risk by accumulated singleton loss-of-function variants
  Zhongzhong Chen, Yunping Lei, Yufang Zheng, Vanessa Aguiar-Pulido, M. Elizabeth Ross, Rui Peng, Li Jin, Ting Zhang, Richard H. Finnell, Hongyan Wang> ;Cell Research. 2018 Jul 5
• 40 citations
  PARD3 dysfunction in conjunction with dynamic HIPPO signaling drives cortical enlargement with massive heterotopia.
  Wenying Angela Liu, She Chen, Zhizhong Li, Choong H. Lee, Ghayda M. Mirzaa, William B. Dobyns, M. Elizabeth Ross, Jiangyang Zhang, Song-Hai Shi> ;Genes & Development. 2018 Jun 1
• 3 citations
  Homozygous nonsense mutation in SCHIP1/IQCJ-SCHIP1 causes a neurodevelopmental brain malformation syndrome
  Mahmoud F. Elsaid, Nader Chalhoub, Tawfeg Ben-Omran, Hooman Kamel, M. Al Mureikhi, Khalid Ibrahim, M. Elizabeth Ross, Alice Abdel Aleem> ;Clinical Genetics. 2018 Feb 1
• 8 citations
  Mature Hippocampal Neurons Require LIS1 for Synaptic Integrity: Implications for Cognition
  Anamaria Sudarov, Xin-Jun Zhang, Leighton Braunstein, Eve LoCastro, Shawn Singh, Yu Taniguchi, Ashish Raj, Song-Hai Shi, Holly Moore, M. Elizabeth Ross> ;Biological Psychiatry. 2017 Sep 23
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Journal Articles

• Metabolite Profiling of Whole Murine Embryos Reveals Metabolic Perturbations Associated with Maternal Valproate‐Induced Neural Tube Closure Defects  
  M Elizabeth Ross, Steven S Gross, Birth Defects Research