LaurieAnnRobakMDPhD

PubMed

• 1 citations
  A novel de novo intronic variant in ITPR1 causes Gillespie syndrome
  Laura Keehan, Ming-Ming Jiang, Xiaohui Li, Ronit Marom, Hongzheng Dai, David R. Murdock, Pengfei Liu, Jill V. Hunter, Jason D. Heaney, Laurie Robak, Lisa Emrick, Timot...> ;American Journal of Medical Genetics. Part A. 2021 May 5
• 8 citations
  Integrated sequencing and array comparative genomic hybridization in familial Parkinson disease.
  Laurie Robak, Renqian Du, Bo Yuan, Shen Gu, Isabel Alfradique-Dunham, Vismaya Kondapalli, Evelyn Hinojosa, Amanda Stillwell, Emily Young, Chaofan Zhang, Xiaofei Song, ...> ;Neurology. Genetics. 2020 Oct 1
• 8 citations
  The expanding clinical phenotype of germline ABL1-associated congenital heart defects and skeletal malformations syndrome.
  Chun-An Chen, Emeline Crutcher, Harinder Gill, Tanya N. Nelson, Laurie Robak, Marjolijn C.J. Jongmans, Rolph Pfundt, Chitra Prasad, Roberta A. Berard, Madeleine Fannem...> ;Human Mutation. 2020 Jul 19
• 28 citations
  De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation.
  Dongxue Mao, Chloe M. Reuter, Ruzhnikov Mrz, Anita E. Beck, Emily G. Farrow, Lisa Emrick, Jill A. Rosenfeld, Katherine M. Mackenzie, Laurie Robak, Matthew T. Wheeler, ...> ;American Journal of Human Genetics. 2020 Mar 19
• 944 citations
  Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies
  Mike A. Nalls, Cornelis Blauwendraat, Costanza L. Vallerga, Karl Heilbron, Sara Bandres-Ciga, Diana Chang, Manuela Tan, Demis A. Kia, Alastair J. Noyce, Angli Xue, Jos...> ;The Lancet. Neurology. 2019 Dec 1
• 23 citations
  De novo missense variant in the GTPase effector domain (GED) of DNM1L leads to static encephalopathy and seizures
  Nurit Assia Batzir, Pranjali K Bhagwat, Tanya N. Eble, Pengfei Liu, Christine M. Eng, Sarah H. Elsea, Laurie Robak, Fernando Scaglia, Alica M. Goldman, Shweta U. Dhar,...> ;Cold Spring Harbor Molecular Case Studies. 2019 Jun 1
• 22 citations
  Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability
  Benjamin Cogné, Sophie Ehresmann, Eliane Beauregard-Lacroix, Justine Rousseau, Thomas Besnard, Thomas Garcia, Slavé Petrovski, Shiri Avni, Kirsty McWalter, Patrick R. ...> ;American Journal of Human Genetics. 2019 Mar 7
• 8 citations
  The expanding neurological phenotype of DNM1L-related disorders.
  Michael F. Wangler, Nurit Assia Batzir, Laurie Robak, Mary Kay Koenig, Carlos A. Bacino, Fernando Scaglia, Hugo J. Bellen> ;Brain. 2018 Apr 1
• 296 citations
  Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management
  Linyan Meng, Mohan Pammi, Anirudh Saronwala, Pilar L. Magoulas, Andrew R. Ghazi, Francesco Vetrini, Jing Zhang, Weimin He, Avinash V. Dharmadhikari, Chunjing Qu, Patri...> ;JAMA Pediatrics. 2017 Dec 4
• 266 citations
  Excessive burden of lysosomal storage disorder gene variants in Parkinson's disease
  Laurie Robak, Iris E. Jansen, J. van Rooij, Andre G. Uitterlinden, Robert Kraaij, Joseph Jankovic, Peter Heutink, Joshua M. Shulman, B.R. Bloem, Bart Post, Hans Scheff...> ;Brain. 2017 Dec 1
• 113 citations
  De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability
  Sébastien Küry, Geeske M. van Woerden, Thomas Besnard, Martina Proietti Onori, Xenia Latypova, Meghan C. Towne, Megan T. Cho, Trine Prescott, Melissa A. Ploeg, Stephen...> ;American Journal of Human Genetics. 2017 Nov 2
• 87 citations
  NeuroChip, an updated version of the NeuroX genotyping platform to rapidly screen for variants associated with neurological diseases
  Cornelis Blauwendraat, Faraz Faghri, Lasse Pihlstrøm, Joshua T. Geiger, Alexis Elbaz, Suzanne Lesage, Jean-Christophe Corvol, Patrick May, Aude Nicolas, Yevgeniya Abra...> ;Neurobiology of Aging. 2017 Sep 1
• 60 citations
  Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation.
  , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , > ;American Journal of Human Genetics. 2017 Jan 5
• 54 citations
  Missense variants in the middle domain of DNM1L in cases of infantile encephalopathy alter peroxisomes and mitochondria when assayed in Drosophila
  Yu Hsin Chao, Laurie Robak, Fan Xia, Mary Kay Koenig, Adekunle M. Adesina, Carlos A. Bacino, Fernando Scaglia, Hugo J. Bellen, Michael F. Wangler> ;Human Molecular Genetics. 2016 Feb 29
• 57 citations
  Whole-Exome Sequencing in Familial Parkinson Disease
  Janice L. Farlow, Laurie Robak, Kurt N. Hetrick, Kevin M. Bowling, Eric Boerwinkle, Zeynep H. Coban-Akdemir, Tomasz Gambin, Richard A. Gibbs, Shen Gu, Preti Jain, Jose...> ;JAMA Neurology. 2016 Jan 1
• 46 citations
  Molecular basis of the interactions of the Nogo-66 receptor and its homolog NgR2 with myelin-associated glycoprotein: development of NgROMNI-Fc, a novel antagonist of ...
  Laurie A. Robak, Karthik Venkatesh, Hakjoo Lee, Stephen J. Raiker, Yuntao Duan, Jane Lee-Osbourne, Thomas Höfer, Rose G. Mage, Christoph Rader, Roman J. Giger> ;The Journal of Neuroscience. 2009 May 6
• 141 citations
  Synaptic function for the Nogo-66 receptor NgR1: regulation of dendritic spine morphology and activity-dependent synaptic strength.
  Hakjoo Lee, Stephen J. Raiker, Karthik Venkatesh, Rebecca Geary, Laurie A. Robak, Yu Zhang, Hermes H. Yeh, Peter Shrager, Roman J. Giger> ;The Journal of Neuroscience. 2008 Mar 12
• 60 citations
  Mechanisms of CNS myelin inhibition: Evidence for distinct and neuronal cell type specific receptor systems
  Roman J. Giger, Karthik Venkatesh, Onanong Chivatakarn, Stephen J. Raiker, Laurie A. Robak, Thomas Hofer, Hakjoo Lee, Christoph Rader> ;Restorative Neurology and Neuroscience. 2008 Jan 1
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