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Identification of RUNX1 as a Mediator of Aberrant Retinal Angiogenesis.
Published in:
2017
By:
- Lam, Jonathan D.;
- Oh, Daniel J.;
- Wong, Lindsay L.;
- Amarnani, Dhanesh;
- Park-Windhol, Cindy;
- Sanchez, Angie V.;
- Cardona-Velez, Jonathan;
- McGuone, Declan;
- Stemmer-Rachamimov, Anat O.;
- Eliott, Dean;
- Bielenberg, Diane R.;
- van Zyl, Tave;
- Lishuang Shen;
- Xiaowu Gai;
- D'Amore, Patricia A.;
- Kim, Leo A.;
- Arboleda-Velasquez, Joseph F.;
- Shen, Lishuang;
- Gai, Xiaowu
Publication type:
journal article
High Prevalence of SARS-CoV-2 Genetic Variation and D614G Mutation in Pediatric Patients With COVID-19.
Published in:
Open Forum Infectious Diseases, 2021, v. 8, n. 6, p. 1, doi. 10.1093/ofid/ofaa551
By:
- Pandey, Utsav;
- Yee, Rebecca;
- Shen, Lishuang;
- Judkins, Alexander R;
- Bootwalla, Moiz;
- Ryutov, Alex;
- Maglinte, Dennis T;
- Ostrow, Dejerianne;
- Precit, Mimi;
- Biegel, Jaclyn A;
- Bender, Jeffrey M;
- Gai, Xiaowu;
- Bard, Jennifer Dien
Publication type:
Article
A compilation of soybean ESTs: generation and analysis.
Published in:
Genome, 2002, v. 45, n. 2, p. 329, doi. 10.1139/g01-150
By:
- Shoemaker, Randy;
- Keim, Paul;
- Vodkin, Lila;
- Retzel, Ernest;
- Clifton, Sandra W;
- Waterston, Robert;
- Smoller, David;
- Coryell, Virginia;
- Khanna, Anupama;
- Erpelding, John;
- Gai, Xiaowu;
- Brendel, Volker;
- Raph-Schmidt, Christina;
- Shoop, E G;
- Vielweber, C J;
- Schmatz, Matt;
- Pape, Deana;
- Bowers, Yvette;
- Theising, Brenda;
- Martin, John
Publication type:
Article
Potential of Aqueous Humor as a Liquid Biopsy for Uveal Melanoma.
Published in:
International Journal of Molecular Sciences, 2022, v. 23, n. 11, p. 6226, doi. 10.3390/ijms23116226
By:
- Im, Deborah H.;
- Peng, Chen-Ching;
- Xu, Liya;
- Kim, Mary E.;
- Ostrow, Dejerianne;
- Yellapantula, Venkata;
- Bootwalla, Moiz;
- Biegel, Jaclyn A.;
- Gai, Xiaowu;
- Prabakar, Rishvanth K.;
- Kuhn, Peter;
- Hicks, James;
- Berry, Jesse L.
Publication type:
Article
Inherited germline ATRX mutation in two brothers with ATR-X syndrome and osteosarcoma.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1390, doi. 10.1002/ajmg.a.38184
By:
- Ji, Jianling;
- Quindipan, Catherine;
- Parham, David;
- Shen, Lishuang;
- Ruble, David;
- Bootwalla, Moiz;
- Maglinte, Dennis T.;
- Gai, Xiaowu;
- Saitta, Sulagna C.;
- Biegel, Jaclyn A.;
- Mascarenhas, Leo
Publication type:
Article
Single nucleotide polymorphism array analysis of bone marrow failure patients reveals characteristic patterns of genetic changes.
Published in:
British Journal of Haematology, 2014, v. 164, n. 1, p. 73, doi. 10.1111/bjh.12603
By:
- Babushok, Daria V.;
- Xie, Hongbo M.;
- Roth, Jacquelyn J.;
- Perdigones, Nieves;
- Olson, Timothy S.;
- Cockroft, Joshua D.;
- Gai, Xiaowu;
- Perin, Juan C.;
- Li, Yimei;
- Paessler, Michele E.;
- Hakonarson, Hakon;
- Podsakoff, Gregory M.;
- Mason, Philip J.;
- Biegel, Jaclyn A.;
- Bessler, Monica
Publication type:
Article
Variability in retinoblastoma genome stability is driven by age and not heritability.
Published in:
Genes, Chromosomes & Cancer, 2020, v. 59, n. 10, p. 584, doi. 10.1002/gcc.22859
By:
- Polski, Ashley;
- Xu, Liya;
- Prabakar, Rishvanth K.;
- Gai, Xiaowu;
- Kim, Jonathan W.;
- Shah, Rachana;
- Jubran, Rima;
- Kuhn, Peter;
- Cobrinik, David;
- Hicks, James;
- Berry, Jesse L.
Publication type:
Article
The next generation of target capture technologies - large DNA fragment enrichment and sequencing determines regional genomic variation of high complexity.
Published in:
BMC Genomics, 2016, v. 17, p. 1, doi. 10.1186/s12864-016-2836-6
By:
- Dapprich, Johannes;
- Ferriola, Deborah;
- Mackiewicz, Kate;
- Clark, Peter M.;
- Rappaport, Eric;
- D'Arcy, Monica;
- Sasson, Ariella;
- Xiaowu Gai;
- Schug, Jonathan;
- Kaestner, Klaus H.;
- Monos, Dimitri
Publication type:
Article
Incontinence medication response relates to the female urinary microbiota.
Published in:
International Urogynecology Journal, 2016, v. 27, n. 5, p. 723, doi. 10.1007/s00192-015-2847-x
By:
- Thomas-White, Krystal;
- Hilt, Evann;
- Fok, Cynthia;
- Pearce, Meghan;
- Mueller, Elizabeth;
- Kliethermes, Stephanie;
- Jacobs, Kristin;
- Zilliox, Michael;
- Brincat, Cynthia;
- Price, Travis;
- Kuffel, Gina;
- Schreckenberger, Paul;
- Gai, Xiaowu;
- Brubaker, Linda;
- Wolfe, Alan
Publication type:
Article
Establishing the Clinical Utility of ctDNA Analysis for Diagnosis, Prognosis, and Treatment Monitoring of Retinoblastoma: The Aqueous Humor Liquid Biopsy.
Published in:
Cancers, 2021, v. 13, n. 6, p. 1282, doi. 10.3390/cancers13061282
By:
- Xu, Liya;
- Kim, Mary E.;
- Polski, Ashley;
- Prabakar, Rishvanth K.;
- Shen, Lishuang;
- Peng, Chen-Ching;
- Reid, Mark W.;
- Chévez-Barrios, Patricia;
- Kim, Jonathan W.;
- Shah, Rachana;
- Jubran, Rima;
- Kuhn, Peter;
- Cobrinik, David;
- Biegel, Jaclyn A.;
- Gai, Xiaowu;
- Hicks, James;
- Berry, Jesse L.;
- Dünker, Nicole;
- Bornfeld, Norbert;
- Munier, Francis L.
Publication type:
Article
CNV Workshop: an integrated platform for high-throughput copy number variation discovery and clinical diagnostics.
Published in:
BMC Bioinformatics, 2010, v. 11, p. 1, doi. 10.1186/1471-2105-11-4
By:
- Xiaowu Gai;
- Perin, Juan C.;
- Murphy, Kevin;
- O'Hara, Ryan;
- D'arcy, Monica;
- Wenocur, Adam;
- Xie, Hongbo M.;
- Rappaport, Eric F.;
- Shaikh, Tamim H.;
- White, Peter S.
Publication type:
Article
Trafficking of mitochondrial double-stranded RNA from mitochondria to the cytosol.
Published in:
Life Science Alliance, 2024, v. 7, n. 9, p. 1, doi. 10.26508/lsa.202302396
By:
- Krieger, Matthew R.;
- Abrahamian, Melania;
- He, Kevin L.;
- Atamdede, Sean;
- Hakimjavadi, Hesamedin;
- Momcilovic, Milica;
- Ostrow, Dejerianne;
- Maggo, Simran D. S.;
- Yik Pui Tsang;
- Xiaowu Gai;
- Chanfreau, Guillaume F.;
- Shackelford, David B.;
- Teitell, Michael A.;
- Koehler, Carla M.
Publication type:
Article
Utility of In Vitro Mutagenesis of RPE65 Protein for Verification of Mutational Pathogenicity Before Gene Therapy.
Published in:
2019
By:
- Yang, Unikora;
- Gentleman, Susan;
- Gai, Xiaowu;
- Gorin, Michael B.;
- Borchert, Mark S.;
- Lee, Thomas C.;
- Villanueva, Adda;
- Koenekoop, Robert;
- Maguire, Albert M.;
- Bennett, Jean;
- Redmond, T. Michael;
- Nagiel, Aaron
Publication type:
journal article
Gene discovery using the maize genome database ZmDB.
Published in:
Nucleic Acids Research, 2000, v. 28, n. 1, p. 94, doi. 10.1093/nar/28.1.94
By:
- Gai, Xiaowu;
- Lal, Shailesh;
- Xing, Liqun;
- Brendel, Volker;
- Walbot, Virginia
Publication type:
Article
Clinical utility of the low-density Infinium QC genotyping Array in a genomics-based diagnostics laboratory.
Published in:
BMC Medical Genomics, 2017, v. 10, p. 1, doi. 10.1186/s12920-017-0297-7
By:
- Ponomarenko, Petr;
- Ryutov, Alex;
- Maglinte, Dennis T.;
- Baranova, Ancha;
- Tatarinova, Tatiana V.;
- Xiaowu Gai
Publication type:
Article
Duplication of 7q34 in Pediatric Low-Grade Astrocytomas Detected by High-Density Single-Nucleotide Polymorphism-Based Genotype Arrays Results in a Novel BRAF Fusion Gene.
Published in:
Brain Pathology, 2009, v. 19, n. 3, p. 449, doi. 10.1111/j.1750-3639.2008.00225.x
By:
- Sievert, Angela J.;
- Jackson, Eric M.;
- Xiaowu Gai;
- Hakonarson, Hakon;
- Judkins, Alexander R.;
- Resnick, Adam C.;
- Sutton, Leslie N.;
- Storm, Phillip B.;
- Shaikh, Tamim H.;
- Biegel, Jaclyn A.
Publication type:
Article
Low-pass whole-genome and targeted sequencing of cell-free DNA from cerebrospinal fluid in pediatric patients with central nervous system tumors.
Published in:
Neuro-Oncology Advances, 2023, v. 5, n. 1, p. 1, doi. 10.1093/noajnl/vdad077
By:
- O'Halloran, Katrina;
- Yellapantula, Venkata;
- Christodoulou, Eirini;
- Ostrow, Dejerianne;
- Bootwalla, Moiz;
- Ji, Jianling;
- Cotter, Jennifer;
- Chapman, Nicholas;
- Chu, Jason;
- Margol, Ashley;
- Krieger, Mark D;
- Chiarelli, Peter A;
- Gai, Xiaowu;
- Biegel, Jaclyn A
Publication type:
Article
Mitochondrial 1555 G>A variant as a potential risk factor for childhood glioblastoma.
Published in:
Neuro-Oncology Advances, 2022, v. 4, n. 1, p. 1, doi. 10.1093/noajnl/vdac045
By:
- Shaobo Li;
- Xiaowu Gai;
- Swe Swe Myint;
- Arroyo, Katti;
- Morimoto, Libby;
- Metayer, Catherine;
- de Smith, Adam J.;
- Walsh, Kyle M.;
- Wiemels, Joseph L.
Publication type:
Article
A method for measuring mitochondrial DNA copy number in pediatric populations.
Published in:
Frontiers in Pediatrics, 2024, p. 01, doi. 10.3389/fped.2024.1401737
By:
- Maggo, Simran;
- North, Liam Y.;
- Ozuna, Aime;
- Ostrow, Dejerianne;
- Grajeda, Yander R.;
- Hakimjavadi, Hesamedin;
- Cotter, Jennifer A.;
- Judkins, Alexander R.;
- Levitt, Pat;
- Xiaowu Gai
Publication type:
Article
USMG5 Ashkenazi Jewish founder mutation impairs mitochondrial complex V dimerization and ATP synthesis.
Published in:
Human Molecular Genetics, 2018, v. 27, n. 19, p. 3305, doi. 10.1093/hmg/ddy231
By:
- Barca, Emanuele;
- Ganetzky, Rebecca D;
- Potluri, Prasanth;
- Juanola-Falgarona, Marti;
- Gai, Xiaowu;
- Li, Dong;
- Jalas, Chaim;
- Hirsch, Yoel;
- Emmanuele, Valentina;
- Tadesse, Saba
Publication type:
Article
Mutations in IFT172 cause isolated retinal degeneration and Bardet–Biedl syndrome.
Published in:
Human Molecular Genetics, 2015, v. 24, n. 1, p. 230, doi. 10.1093/hmg/ddu441
By:
- Bujakowska, Kinga M.;
- Qi Zhang;
- Siemiatkowska, Anna M.;
- Qin Liu;
- Place, Emily;
- Falk, Marni J.;
- Consugar, Mark;
- Lancelot, Marie-Elise;
- Antonio, Aline;
- Lonjou, Christine;
- Carpentier, Wassila;
- Mohand-Saïd, Saddek;
- den Hollander, Anneke I.;
- Cremers, Frans P. M.;
- Leroy, Bart P.;
- Xiaowu Gai;
- Sahel, José-Alain;
- van den Born, L. Ingeborgh;
- Collin, Rob W. J.;
- Zeitz, Christina
Publication type:
Article
Combined low-pass whole genome and targeted sequencing in liquid biopsies for pediatric solid tumors.
Published in:
NPJ Precision Oncology, 2023, v. 7, n. 1, p. 1, doi. 10.1038/s41698-023-00357-0
By:
- Christodoulou, Eirini;
- Yellapantula, Venkata;
- O'Halloran, Katrina;
- Xu, Liya;
- Berry, Jesse L.;
- Cotter, Jennifer A.;
- Zdanowicz, Anya;
- Mascarenhas, Leo;
- Amatruda, James F.;
- Ostrow, Dejerianne;
- Bootwalla, Moiz;
- Gai, Xiaowu;
- Navid, Fariba;
- Biegel, Jaclyn A.
Publication type:
Article
Inter-eye genomic heterogeneity in bilateral retinoblastoma via aqueous humor liquid biopsy.
Published in:
NPJ Precision Oncology, 2021, v. 5, n. 1, p. 1, doi. 10.1038/s41698-021-00212-0
By:
- Wong, Elyssa Y.;
- Xu, Liya;
- Shen, Lishuang;
- Kim, Mary E.;
- Polski, Ashley;
- Prabakar, Rishvanth K.;
- Shah, Rachana;
- Jubran, Rima;
- Kim, Jonathan W.;
- Biegel, Jaclyn A.;
- Gai, Xiaowu;
- Kuhn, Peter;
- Hicks, James;
- Berry, Jesse L.
Publication type:
Article
Comprehensive Genome Analysis of 6,000 USA SARS-CoV-2 Isolates Reveals Haplotype Signatures and Localized Transmission Patterns by State and by Country.
Published in:
Frontiers in Microbiology, 2020, v. 11, p. N.PAG, doi. 10.3389/fmicb.2020.573430
By:
- Shen, Lishuang;
- Dien Bard, Jennifer;
- Biegel, Jaclyn A.;
- Judkins, Alexander R.;
- Gai, Xiaowu
Publication type:
Article
Re-sequencing of ankyrin 3 exon 48 and case-control association analysis of rare variants in bipolar disorder type I.
Published in:
Bipolar Disorders, 2012, v. 14, n. 8, p. 809, doi. 10.1111/bdi.12002
By:
- Doyle, Glenn A;
- Lai, Alison T;
- Chou, Andrew D;
- Wang, Min‐Jung;
- Gai, Xiaowu;
- Rappaport, Eric F;
- Berrettini, Wade H
Publication type:
Article
Microdeletions and Microduplications in Patients with Congenital Heart Disease and Multiple Congenital Anomalies.
Published in:
Congenital Heart Disease, 2011, v. 6, n. 6, p. 592, doi. 10.1111/j.1747-0803.2011.00582.x
By:
- Goldmuntz, Elizabeth;
- Paluru, Prasuna;
- Glessner, Joseph;
- Hakonarson, Hakon;
- Biegel, Jaclyn A.;
- White, Peter S.;
- Gai, Xiaowu;
- Shaikh, Tamim H.
Publication type:
Article
Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation.
Published in:
Human Mutation, 2020, v. 41, n. 12, p. 2028, doi. 10.1002/humu.24107
By:
- McCormick, Elizabeth M.;
- Lott, Marie T.;
- Dulik, Matthew C.;
- Shen, Lishuang;
- Attimonelli, Marcella;
- Vitale, Ornella;
- Karaa, Amel;
- Bai, Renkui;
- Pineda‐Alvarez, Daniel E.;
- Singh, Larry N.;
- Stanley, Christine M.;
- Wong, Stacey;
- Bhardwaj, Anshu;
- Merkurjev, Daria;
- Mao, Rong;
- Sondheimer, Neal;
- Zhang, Shiping;
- Procaccio, Vincent;
- Wallace, Douglas C.;
- Gai, Xiaowu
Publication type:
Article
MSeqDR mvTool: A mitochondrial DNA Web and API resource for comprehensive variant annotation, universal nomenclature collation, and reference genome conversion.
Published in:
Human Mutation, 2018, v. 39, n. 6, p. 806, doi. 10.1002/humu.23422
By:
- Shen, Lishuang;
- Attimonelli, Marcella;
- Bai, Renkui;
- Lott, Marie T.;
- Wallace, Douglas C.;
- Falk, Marni J.;
- Gai, Xiaowu
Publication type:
Article
MSeqDR: A Centralized Knowledge Repository and Bioinformatics Web Resource to Facilitate Genomic Investigations in Mitochondrial Disease.
Published in:
Human Mutation, 2016, v. 37, n. 6, p. 540, doi. 10.1002/humu.22974
By:
- Shen, Lishuang;
- Diroma, Maria Angela;
- Gonzalez, Michael;
- Navarro‐Gomez, Daniel;
- Leipzig, Jeremy;
- Lott, Marie T.;
- Oven, Mannis;
- Wallace, Douglas C.;
- Muraresku, Colleen Clarke;
- Zolkipli‐Cunningham, Zarazuela;
- Chinnery, Patrick F.;
- Attimonelli, Marcella;
- Zuchner, Stephan;
- Falk, Marni J.;
- Gai, Xiaowu
Publication type:
Article
Innovative Genomic Collaboration Using the GENESIS (GEM.app) Platform.
Published in:
Human Mutation, 2015, v. 36, n. 10, p. 950, doi. 10.1002/humu.22836
By:
- Gonzalez, Michael;
- Falk, Marni J.;
- Gai, Xiaowu;
- Postrel, Richard;
- Schüle, Rebecca;
- Zuchner, Stephan
Publication type:
Article
SNP array mapping of chromosome 20p deletions: Genotypes, phenotypes, and copy number variation.
Published in:
Human Mutation, 2009, v. 30, n. 3, p. 371, doi. 10.1002/humu.20863
By:
- Kamath, Binita M.;
- Thiel, Brian D.;
- Gai, Xiaowu;
- Conlin, Laura K.;
- Munoz, Pedro S.;
- Glessner, Joseph;
- Clark, Dinah;
- Warthen, Daniel M.;
- Shaikh, Tamim H.;
- Mihci, Ercan;
- Piccoli, David A.;
- Grant, Struan F.A.;
- Hakonarson, Hakon;
- Krantz, Ian D.;
- Spinner, Nancy B.
Publication type:
Article
MSeqDR Quick‐Mitome (QM): Combining Phenotype‐Guided Variant Interpretation and Machine Learning Classifiers to Aid Primary Mitochondrial Disease Genetic Diagnosis.
Published in:
Current Protocols, 2024, v. 4, n. 1, p. 1, doi. 10.1002/cpz1.955
By:
- Shen, Lishuang;
- Falk, Marni J.;
- Gai, Xiaowu
Publication type:
Article
m.3685T >C is a novel mitochondrial DNAvariant that causes Leigh syndrome.
Published in:
Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 2, p. 1, doi. 10.1101/mcs.a006136
By:
- Jean, Jeffrey;
- Christodoulou, Eirini;
- Xiaowu Gai;
- Tamrazi, Benita;
- Vera, Moin;
- Mitchell, Wendy G.;
- Schmidt, Ryan J.
Publication type:
Article
AnthOligo: automating the design of oligonucleotides for capture/enrichment technologies.
Published in:
Bioinformatics, 2020, v. 36, n. 15, p. 4353, doi. 10.1093/bioinformatics/btaa552
By:
- Jayaraman, Pushkala;
- Mosbruger, Timothy;
- Hu, Taishan;
- Tairis, Nikolaos G;
- Wu, Chao;
- Clark, Peter M;
- D'Arcy, Monica;
- Ferriola, Deborah;
- Mackiewicz, Katarzyna;
- Gai, Xiaowu;
- Monos, Dimitrios;
- Sarmady, Mahdi
Publication type:
Article
Phy-Mer: a novel alignment-free and reference-independent mitochondrial haplogroup classifier.
Published in:
Bioinformatics, 2015, v. 31, n. 8, p. 1310, doi. 10.1093/bioinformatics/btu825
By:
- Navarro-Gomez, Daniel;
- Leipzig, Jeremy;
- Lishuang Shen;
- Lott, Marie;
- Stassen, Alphons P. M.;
- Wallace, Douglas C.;
- Wiggs, Janey L.;
- Falk, Marni J.;
- van Oven, Mannis;
- Xiaowu Gai
Publication type:
Article
Phy-Mer: a novel alignment-free and reference-independent mitochondrial haplogroup classifier.
Published in:
2015
By:
- Navarro-Gomez, Daniel;
- Leipzig, Jeremy;
- Lishuang Shen;
- Lott, Marie;
- Stassen, Alphons P. M.;
- Wallace, Douglas C.;
- Wiggs, Janey L.;
- Falk, Marni J.;
- van Oven, Mannis;
- Xiaowu Gai
Publication type:
Product Review

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