HeLiMD(He/Him)

PubMed

• 27 citations
  Exome variant discrepancies due to reference genome differences.
  He Li, Moez Dawood, Michael M. Khayat, Jesse Farek, Shalini N. Jhangiani, Ziad Khan, Tadahiro Mitani, Zeynep Coban-Akdemir, James R. Lupski, Eric Venner, Jennifer E. P...> ;American Journal of Human Genetics. 2021 Jun 11
• 11 citations
  Phenotypic and protein localization heterogeneity associated with AHDC1 pathogenic protein‐truncating alleles in Xia‐Gibbs Syndrome
  Michael M. Khayat, He Li, Varuna Chander, Jianhong Hu, Adam W. Hansen, Shoudong Li, Josh Traynelis, Hua Shen, George Weissenberger, Fabio Stossi, Hannah L. Johnson, Ja...> ;Human Mutation. 2021 Feb 28
• Presumed spinocerebellar ataxia 7: challenges without molecular diagnosis.
  He Li, Fatoumata Yanoga, Mohamed H. Abdel-Rahman, Colleen M. Cebulla> ;Clinical & Experimental Optometry. 2021 Feb 25
• 46 citations
  Germline Cancer Predisposition Variants in Pediatric Rhabdomyosarcoma: A Report From the Children’s Oncology Group
  He Li, Saumya D. Sisoudiya, Bailey Angeline Martin-Giacalone, Michael M. Khayat, Shannon Dugan-Perez, Deborah Marquez-Do, Michael E. Scheurer, Donna M. Muzny, Eric Boe...> ;Journal of the National Cancer Institute. 2020 Dec 29
• 8 citations
  Phenotypic expansion in KIF1A-related dominant disorders: A description of novel variants and review of published cases.
  Ximena Montenegro-Garreaud, Adam W. Hansen, Michael M. Khayat, Varuna Chander, Christopher M. Grochowski, Yunyun Jiang, He Li, Tadahiro Mitani, Elena Kessler, Joy Jaya...> ;Human Mutation. 2020 Sep 15
• 19 citations
  Sjögren Syndrome without Focal Lymphocytic Infiltration of the Salivary Glands.
  Rohan Sharma, Kaustubh S. Chaudhari, Biji T. Kurien, Kiely Grundahl, Lida Radfar, David M Lewis, Christopher J. Lessard, He Li, Astrid Rasmussen, Kathy L. Sivils, R. H...> ;The Journal of Rheumatology. 2020 Mar 1
• 25 citations
  A Genocentric Approach to Discovery of Mendelian Disorders
  Adam W. Hansen, Mullai Murugan, He Li, Michael M. Khayat, Liwen Wang, Jill A. Rosenfeld, B. Kim Andrews, Shalini N. Jhangiani, Zeynep Coban Akdemir, Fritz J. Sedlazeck...> ;American Journal of Human Genetics. 2019 Nov 7
• 24 citations
  Allele-specific NKX2-5 binding underlies multiple genetic associations with human electrocardiographic traits
  Paola Benaglio, Agnieszka D'Antonio-Chronowska, Wubin Ma, Feng Yang, William W. Greenwald, Margaret K.R. Donovan, Christopher DeBoever, He Li, Frauke Drees, Sanghamitr...> ;Nature Genetics. 2019 Sep 30
• 13 citations
  The potential role of nutrition on lens pathology: a systematic review and meta-analysis.
  Olympia Sideri, Konstantinos T. Tsaousis, He J. Li, Maria Viskadouraki, Ioannis Tsinopoulos> ;Survey of Ophthalmology. 2019 Sep 1
• 375 citations
  Subtle changes in chromatin loop contact propensity are associated with differential gene regulation and expression.
  William W. Greenwald, He Li, Paola Benaglio, David Jakubosky, Hiroko Matsui, Anthony D. Schmitt, Siddarth Selvaraj, Matteo D’Antonio, Agnieszka D'Antonio-Chronowska, E...> ;Nature Communications. 2019 Mar 5
• 50 citations
  Insights into the Mutational Burden of Human Induced Pluripotent Stem Cells from an Integrative Multi-Omics Approach.
  Matteo D’Antonio, Paola Benaglio, David Jakubosky, William W. Greenwald, Hiroko Matsui, Margaret K.R. Donovan, He Li, Erin N. Smith, Agnieszka D'Antonio-Chronowska, Ke...> ;Cell Reports. 2018 Jul 24
• 8 citations
  Comparison of different types of phacoemulsification tips. III. Morphological changes induced after multiple uses in an ex vivo model
  Konstantinos T. Tsaousis, David F. Chang, Liliana Werner, Jesus Paulo L. Perez, Jia J. Guan, Nicholas Reiter, He J. Li, Nick Mamalis> ;Journal of Cataract and Refractive Surgery. 2018 Jan 1
• 10 citations
  Efficient Prioritization of Multiple Causal eQTL Variants via Sparse Polygenic Modeling
  Naoki Nariai, William W. Greenwald, Christopher DeBoever, He Li, Kelly A. Frazer> ;Genetics. 2017 Dec 1
• 49 citations
  Identification of a Sjögren's syndrome susceptibility locus at OAS1 that influences isoform switching, protein expression, and responsiveness to type I interferons.
  , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , > ;Plos Genetics. 2017 Jun 22
• 93 citations
  iPSCORE: A Resource of 222 iPSC Lines Enabling Functional Characterization of Genetic Variation across a Variety of Cell Types.
  Athanasia D. Panopoulos, Matteo D’Antonio, Paola Benaglio, Roy Williams, Sherin Hashem, Bernhard M. Schuldt, Christopher DeBoever, Angelo Arias, Melvin Garcia, Bradley...> ;Stem Cell Reports. 2017 Apr 11
• 21 citations
  Pgltools: a genomic arithmetic tool suite for manipulation of Hi-C peak and other chromatin interaction data
  William W. Greenwald, He Li, Erin N. Smith, Paola Benaglio, Naoki Nariai, Kelly A. Frazer> ;BMC Bioinformatics. 2017 Apr 7
• 107 citations
  Large-Scale Profiling Reveals the Influence of Genetic Variation on Gene Expression in Human Induced Pluripotent Stem Cells
  Christopher DeBoever, He Li, David Jakubosky, Paola Benaglio, Joaquin Reyna, Katrina M. Olson, Hui Huang, William H. Biggs, Efren Sandoval, Matteo D’Antonio, Kristen J...> ;Cell Stem Cell. 2017 Apr 6
• Chronic undiagnosed orbital inflammation due to factitious disorder: a 'think different' paradigm.
  He Jack Li, Konstantinos T. Tsaousis, Ashlie Bernhisel, Nicholas Reiter, Jun Jia Guan, Nick Mamalis, Bhupendra C. Patel> ;Clinical & Experimental Optometry. 2017 Jan 1
• 11 citations
  Optic replacement in a novel modular intraocular lens system
  Jia J. Guan, Gregory D. Kramer, Kyle D. MacLean, Aabid Farukhi, He Li, Nicholas Reiter, Liliana Werner, Nick Mamalis> ;Clinical & Experimental Ophthalmology. 2016 Dec 1
• 24 citations
  Establishing the involvement of the novel gene AGBL5 in retinitis pigmentosa by whole genome sequencing
  Kari Branham, Hiroko Matsui, Pooja Biswas, Aditya A. Guru, Michael A. Hicks, John Suk, He Li, David Jakubosky, Tao Long, Amalio Telenti, Naoki Nariai, John R. Heckenli...> ;Physiological Genomics. 2016 Oct 7
• 6 citations
  Comparison of different types of phacoemulsification tips. II. Morphologic alterations induced by multiple steam sterilization cycles with and without use of enzyme de...
  Konstantinos T. Tsaousis, Liliana Werner, Nicholas Reiter, Jesus Paulo L. Perez, He J. Li, Jia J. Guan, Nick Mamalis> ;Journal of Cataract and Refractive Surgery. 2016 Sep 1
• 6 citations
  Comparison of different types of phacoemulsification tips. I. Quantitative analysis of elemental composition and tip surface microroughness.
  Konstantinos T. Tsaousis, Liliana Werner, Jesus Paulo L. Perez, He J. Li, Nicholas Reiter, Jia J. Guan, Nick Mamalis> ;Journal of Cataract and Refractive Surgery. 2016 Sep 1
• 3 citations
  Salvaging deep anterior lamellar keratoplasty with microbubble incision technique in failed “big bubble” cases: an update study
  Sanjib Banerjee, He J. Li, Konstantinos T. Tsaousis, Geoffrey Tabin> ;European Journal of Ophthalmology. 2016 Jun 10
• 3 citations
  Late-onset, snowstorm-like appearance of calcium deposits coating a poly(methyl methacrylate) posterior chamber intraocular lens
  Todd H. Driver, He J. Li, Anushree Sharma, Nicole Fram, Ronald J. Smith, Liliana Werner, Nick Mamalis> ;Journal of Cataract and Refractive Surgery. 2016 Jun 1
• 2 citations
  Epibulbar Nodular Fasciitis.
  David John Massop, Paul Adam Frederick, He J. Li, Amy Lin> ;Case Reports in Ophthalmology. 2016 Jan 1
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