GiladDavidEvronyMD

PubMed

• Pangenome graphs improve the analysis of structural variants in rare genetic diseases.
  Groza, C., Schwendinger-Schreck, C., Cheung, W., Farrow, E., Thiffault, I., Lake, J., Curran, T., Bourque, G., Pastinen, T., Rizzo, W., Evrony, G.> ;Nature Communications. 2024 Jan 22
• 6 citations
  Direct haplotype-resolved 5-base HiFi sequencing for genome-wide profiling of hypermethylation outliers in a rare disease cohort.
  Warren A Cheung, Adam F Johnson, William J Rowell, Emily Farrow, Richard Hall, Ana S A Cohen, John C Means, Tricia N Zion, Daniel M Portik, Christopher T Saunders, Bor...> ;Nature Communications. 2023 May 29
• 8 citations
  Single duplex DNA sequencing with CODEC detects mutations with high sensitivity.
  Jin H Bae, Ruolin Liu, Eugenia Roberts, Erica Nguyen, Shervin Tabrizi, Justin Rhoades, Timothy Blewett, Kan Xiong, Gregory Gydush, Douglas Shea, Zhenyi An, Sahil Patel...> ;Nature Genetics. 2023 May 1
• 1 citations
  Single-strand mismatch and damage patterns revealed by single-molecule DNA sequencing.
  Mei Hong Liu, Benjamin Costa, Una Choi, Rachel C Bandler, Emilie Lassen, Marta Grońska-Pęski, Adam Schwing, Zachary R Murphy, Daniel Rosenkjær, Shany Picciotto, Vaness...> ;Biorxiv. 2023 Feb 19
• Biochemical characterization of two novel mutations in the human high-affinity choline transporter 1 identified in a patient with congenital myasthenic syndrome.
  Midhat Rizvi, Tina K Truong, Janet Zhou, Manav Batta, Ellen S Moran, John Pappas, Mary Lynn Chu, Oana Caluseriu, Gilad D Evrony, Elaine M Leslie, Emmanuelle Cordat> ;Human Molecular Genetics. 2023 Apr 20
• 9 citations
  An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome.
  Sanaa Choufani, Vanda McNiven, Cheryl Cytrynbaum, Maryam Jangjoo, Margaret P Adam, Hans T Bjornsson, Jacqueline Harris, David A Dyment, Gail E Graham, Marjan M Nezarat...> ;American Journal of Human Genetics. 2022 Oct 6
• 33 citations
  Applications of Single-Cell DNA Sequencing.
  Gilad D. Evrony, Anjali Gupta Hinch, Chongyuan Luo> ;Annual Review of Genomics and Human Genetics. 2021 Aug 31
• 14 citations
  A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features.
  Diane D. Shao, Rachel Straussberg, Hind Ahmed, Amjad Khan, Songhai Tian, R. Sean Hill, Richard S. Smith, Amar J. Majmundar, Najim Ameziane, Jennifer E. Neil, Edward Ya...> ;Genetics in Medicine. 2021 Feb 2
• 53 citations
  Complex Autoinflammatory Syndrome Unveils Fundamental Principles of JAK1 Kinase Transcriptional and Biochemical Function.
  Conor Gruber, Jorg J.A. Calis, Sofija Buta, Gilad D. Evrony, Jerome Martin, Skyler Uhl, Rachel Caron, Lauren Jarchin, David Dunkin, Robert G. Phelps, Bryn D. Webb, Jef...> ;Immunity. 2020 Sep 15
• 6 citations
  Transcriptome sequencing identifies a noncoding, deep intronic variant in CLCN7 causing autosomal recessive osteopetrosis.
  Odelia Chorin, Naomi Yachelevich, Khaled Mohamed, Ilana Moscatelli, John Pappas, Kim Henriksen, Gilad D. Evrony> ;Molecular Genetics & Genomic Medicine. 2020 Jul 21
• 2 citations
  Correction: DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients.
  Roser Urreizti, Klaus Mayer, Gilad D Evrony, Edith Said, Laura Castilla-Vallmanya, Neal A L Cody, Guillem Plasencia, Bruce D Gelb, Daniel Grinberg, Ulrich Brinkmann, B...> ;European Journal of Human Genetics. 2020 Jan 1
• 9 citations
  DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients.
  Roser Urreizti, Klaus Mayer, Gilad D Evrony, Edith Said, Laura Castilla-Vallmanya, Neal A L Cody, Guillem Plasencia, Bruce D Gelb, Daniel Grinberg, Ulrich Brinkmann, B...> ;European Journal of Human Genetics. 2020 Jan 1
• 32 citations
  Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor DONSON as the cause of microcephaly-micromelia syndrome
  Gilad D. Evrony, Dwight R. Cordero, Jun Shen, Jennifer N. Partlow, Timothy W. Yu, Rachel E. Rodin, R. Sean Hill, Michael E. Coulter, Anh Thu N. Lam, Divya Jayaraman, D...> ;Genome Research. 2017 Aug 1
• 8 citations
  One brain, many genomes.
  Gilad D. Evrony> ;Science. 2016 Nov 4
• 3 citations
  A Wild Rotation
  Gilad D. Evrony> ;JAMA. 2016 Aug 16
• 110 citations
  Resolving rates of mutation in the brain using single-neuron genomics
  Gilad D. Evrony, Eunjung Lee, Peter J. Park, Christopher A. Walsh> ;Elife. 2016 Feb 22
• 363 citations
  Somatic mutation in single human neurons tracks developmental and transcriptional history.
  Michael A. Lodato, Mollie B. Woodworth, Semin Lee, Gilad D. Evrony, Bhaven K. Mehta, Amir Karger, Soohyun Lee, Thomas Chittenden, Alissa M. D'Gama, Xuyu Cai, Lovelace ...> ;Science. 2015 Oct 2
• 35 citations
  Loss of PCLO function underlies pontocerebellar hypoplasia type III
  Mustafa Y. Ahmed, Barry A. Chioza, Anna Rajab, K. Schmitz-Abe, Aisha Al-Khayat, S. Al-Turki, Emma L. Baple, M. A. Patton, Ali Al-Memar, Matthew E. Hurles, Jennifer N. ...> ;Neurology. 2015 Apr 28
• 17 citations
  Single-cell, genome-wide sequencing identifies clonal somatic copy-number variation in the human brain.
  Xuyu Cai, Gilad D Evrony, Hillel S Lehmann, Princess C Elhosary, Bhaven K Mehta, Annapurna Poduri, Christopher A Walsh> ;Cell Reports. 2015 Feb 3
• 167 citations
  Cell Lineage Analysis in Human Brain Using Endogenous Retroelements
  Gilad D. Evrony, Eunjung Lee, Bhaven K. Mehta, Yuval Benjamini, Robert M. Johnson, Xuyu Cai, Lixing Yang, Psalm Haseley, Hillel S. Lehmann, Peter J. Park, Christopher ...> ;Neuron. 2015 Jan 7
• 37 citations
  Single-cell, genome-wide sequencing identifies clonal somatic copy-number variation in the human brain.
  Xuyu Cai, Gilad D Evrony, Hillel S Lehmann, Princess C Elhosary, Bhaven K Mehta, Annapurna Poduri, Christopher A Walsh> ;Cell Reports. 2014 Sep 11
• 31 citations
  METTL23, a Transcriptional Partner of GABPA, Is Essential for Human Cognition
  Rachel Elizabeth Reiff, Bassam R. Ali, Byron Baron, Timothy W. Yu, Salma Ben-Salem, Michael E. Coulter, Christian Schubert, R. Sean Hill, Nadia Akawi, Banan Al-Younes,...> ;Human Molecular Genetics. 2014 Jul 1
• 147 citations
  Evolutionarily Dynamic Alternative Splicing of GPR56 Regulates Regional Cerebral Cortical Patterning
  Byoung-Il Bae, Ian Tietjen, Kutay Deniz Atabay, Gilad D. Evrony, Matthew B. Johnson, Ebenezer Asare, Peter P. Wang, Ayako Y. Murayama, Kiho Im, Steven Lisgo, Lynne M. ...> ;Science. 2014 Feb 14
• 388 citations
  Somatic Mutation, Genomic Variation, and Neurological Disease
  Annapurna Poduri, Gilad D. Evrony, Xuyu Cai, Christopher A. Walsh> ;Science. 2013 Jul 5
• 123 citations
  Microcephaly Gene Links Trithorax and REST/NRSF to Control Neural Stem Cell Proliferation and Differentiation
  Yawei J. Yang, Andrew E. Baltus, Rebecca S. Mathew, Elisabeth A. Murphy, Gilad D. Evrony, Dilenny M. Gonzalez, Estee P. Wang, Christine A. Marshall-Walker, Brenda J. B...> ;Cell. 2012 Nov 21
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