Department of Genetics

Research output

Research output per year 1978 2005 2007 2009 2010 2011 2012 2013 2014 2015 2016 2017 2018 2019 2020 2021 2022 2022

• 2061 Article
• 117 Review article
• 75 Comment/debate
• 36 Chapter
• 70 More
  • 19 Letter
  • 17 Conference contribution
  • 17 Editorial
  • 12 Short survey
  • 2 Foreword/postscript
  • 2 Conference article
  • 1 Book

Research output per year

Research output per year

Search results

• 2022

  Variable clinical severity in TANGO2 deficiency: Case series and literature review

  Undiagnosed Diseases Network, Feb 2022, In: American Journal of Medical Genetics, Part A. 188, 2, p. 473-487 15 p.

  Research output: Contribution to journal › Article › peer-review

  • Organizations 100%
  • Rhabdomyolysis 99%
  • Dicarboxylic Acids 59%
  • acylcarnitine 56%
  • Nervous System Malformations 51%
  4 Scopus citations

• Variants in Mitochondrial ATP Synthase Cause Variable Neurologic Phenotypes

  Zech, M., Kopajtich, R., Steinbrücker, K., Bris, C., Gueguen, N., Feichtinger, R. G., Achleitner, M. T., Duzkale, N., Périvier, M., Koch, J., Engelhardt, H., Freisinger, P., Wagner, M., Brunet, T., Berutti, R., Smirnov, D., Navaratnarajah, T., Rodenburg, R. J. T., Pais, L. S., Austin-Tse, C., & 14 othersO'Leary, M., Boesch, S., Jech, R., Bakhtiari, S., Jin, S. C., Wilbert, F., Kruer, M. C., Wortmann, S. B., Eckenweiler, M., Mayr, J. A., Distelmaier, F., Steinfeld, R., Winkelmann, J. & Prokisch, H., Feb 2022, In: Annals of neurology. 91, 2, p. 225-237 13 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Mitochondrial Proton-Translocating ATPases 100%
  • Nervous System 51%
  • Adenosine Triphosphate 49%
  • Phenotype 38%
  • Dystonia 14%
  3 Scopus citations

• WashU Epigenome Browser update 2022

  Li, D., Purushotham, D., Harrison, J. K., Hsu, S., Zhuo, X., Fan, C., Liu, S., Xu, V., Chen, S., Xu, J., Ouyang, S., Wu, A. S. & Wang, T., Jul 5 2022, In: Nucleic acids research. 50, W1, p. W774-W781

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Epigenome 100%
  • Genome 54%
  • Chromatin 47%
  • Epigenomics 46%
  • Genomics 27%
  6 Scopus citations

• Whole-exome sequencing reveals damaging gene variants associated with hypoalphalipoproteinemia

  Dong, W., Wong, K. H. Y., Liu, Y., Levy-Sakin, M., Hung, W. C., Li, M., Li, B., Jin, S. C., Choi, J., Lopez-Giraldez, F., Vaka, D., Poon, A., Chu, C., Lao, R., Balamir, M., Movsesyan, I., Malloy, M. J., Zhao, H., Kwok, P. Y., Kane, J. P., & 2 othersLifton, R. P. & Pullinger, C. R., Jun 2022, In: Journal of lipid research. 63, 6, 100209.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Hypoalphalipoproteinemias 100%
  • High-Density Lipoprotein Cholesterol 94%
  • Whole Exome Sequencing 71%
  • HDL Cholesterol 29%
  • Genes 24%

• Whole-genome profiling of DNA methylation and hydroxymethylation identifies distinct regulatory programs among innate lymphocytes

  Peng, V., Xing, X., Bando, J. K., Trsan, T., Di Luccia, B., Collins, P. L., Li, D., Wang, W. L., Lee, H. J., Oltz, E. M., Wang, T. & Colonna, M., Apr 2022, In: Nature immunology. 23, 4, p. 619-631 13 p.

  Research output: Contribution to journal › Article › peer-review

  • DNA Methylation 100%
  • Natural Killer Cells 70%
  • Lymphocytes 70%
  • Genome 68%
  • Epigenomics 44%
  4 Scopus citations

• Whole genome sequence analysis of blood lipid levels in >66,000 individuals

  NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, Dec 2022, In: Nature communications. 13, 1, 5995.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • genome 100%
  • lipids 75%
  • blood 73%
  • Sequence Analysis 71%
  • Lipid 52%

• WormBase in 2022-data, processes, and tools for analyzing Caenorhabditis elegans

  Davis, P., Zarowiecki, M., Arnaboldi, V., Becerra, A., Cain, S., Chan, J., Chen, W. J., Cho, J., da Veiga Beltrame, E., Diamantakis, S., Gao, S., Grigoriadis, D., Grove, C. A., Harris, T. W., Kishore, R., Le, T., Lee, R. Y. N., Luypaert, M., Müller, H. M., Nakamura, C., & 19 othersNuin, P., Paulini, M., Quinton-Tulloch, M., Raciti, D., Rodgers, F. H., Russell, M., Schindelman, G., Singh, A., Stickland, T., Van Auken, K., Wang, Q., Williams, G., Wright, A. J., Yook, K., Berriman, M., Howe, K. L., Schedl, T., Stein, L. & Sternberg, P. W., Apr 2022, In: Genetics. 220, 4, iyac003.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Caenorhabditis elegans 100%
  • Data Mining 73%
  • Data Curation 45%
  • Data Visualization 44%
  • Single-Cell Analysis 40%
  14 Scopus citations
• 2021

  AD-linked R47H-TREM2 mutation induces disease-enhancing microglial states via AKT hyperactivation

  Sayed, F. A., Kodama, L., Fan, L., Carling, G. K., Udeochu, J. C., Le, D., Li, Q., Zhou, L., Ying Wong, M., Horowitz, R., Ye, P., Mathys, H., Wang, M., Niu, X., Mazutis, L., Jiang, X., Wang, X., Gao, F., Brendel, M., Telpoukhovskaia, M., & 20 othersTracy, T. E., Frost, G., Zhou, Y., Li, Y., Qiu, Y., Cheng, Z., Yu, G., Hardy, J., Coppola, G., Wang, F., DeTure, M. A., Zhang, B., Xie, L., Trajnowski, J. Q., Lee, V. M. Y., Gong, S., Sinha, S. C., Dickson, D. W., Luo, W. & Gan, L., Dec 1 2021, In: Science translational medicine. 13, 622, abe3947.

  Research output: Contribution to journal › Article › peer-review

  • Myeloid Cells 100%
  • Microglia 99%
  • Tauopathies 88%
  • Alzheimer Disease 75%
  • Mutation 54%
  6 Scopus citations

• A genetic screen for regulators of muscle morphogenesis in Drosophila

  Ou, T., Huang, G., Wilson, B., Gontarz, P., Skeath, J. B. & Johnson, A. N., Aug 2021, In: G3: Genes, Genomes, Genetics. 11, 8, jkab172.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Morphogenesis 100%
  • Drosophila 92%
  • Muscles 59%
  • Salsola 23%
  • Muscle Cells 22%
  1 Scopus citations

• A high-resolution HLA reference panel capturing global population diversity enables multi-ancestry fine-mapping in HIV host response

  NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, Oct 2021, In: Nature Genetics. 53, 10, p. 1504-1516 13 p.

  Research output: Contribution to journal › Article › peer-review

  • HIV 100%
  • HLA-B Antigens 61%
  • Population 56%
  • Hispanic Americans 46%
  • Genome-Wide Association Study 25%
  6 Scopus citations

• AIAP: A Quality Control and Integrative Analysis Package to Improve ATAC-seq Data Analysis

  Liu, S., Li, D., Lyu, C., Gontarz, P. M., Miao, B., Madden, P. A. F., Wang, T. & Zhang, B., Aug 2021, In: Genomics, Proteomics and Bioinformatics. 19, 4, p. 641-651 11 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Chromatin 100%
  • Transposases 83%
  • High Throughput 81%
  • Chromatin Immunoprecipitation Sequencing 75%
  • Sequencing 69%
  7 Scopus citations

• ALG13 X-linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes

  Alsharhan, H., He, M., Edmondson, A. C., Daniel, E. J. P., Chen, J., Donald, T., Bakhtiari, S., Amor, D. J., Jones, E. A., Vassallo, G., Vincent, M., Cogné, B., Deb, W., Werners, A. H., Jin, S. C., Bilguvar, K., Christodoulou, J., Webster, R. I., Yearwood, K. R., Ng, B. G., & 6 othersFreeze, H. H., Kruer, M. C., Li, D., Raymond, K. M., Bhoj, E. J. & Sobering, A. K., Jul 2021, In: Journal of Inherited Metabolic Disease. 44, 4, p. 1001-1012 12 p.

  Research output: Contribution to journal › Article › peer-review

  • Glycosylation 100%
  • Intellectual Disability 91%
  • Polysaccharides 91%
  • Transferrin 69%
  • Phenotype 58%
  5 Scopus citations

• Allele-specific variation at APOE increases nonalcoholic fatty liver disease and obesity but decreases risk of Alzheimer's disease and myocardial infarction

  Palmer, N. D., Kahali, B., Kuppa, A., Chen, Y., Du, X., Feitosa, M. F., Bielak, L. F., O'Connell, J. R., Musani, S. K., Guo, X., Smith, A. V., Ryan, K. A., Eirksdottir, G., Allison, M. A., Bowden, D. W., Budoff, M. J., Carr, J. J., Chen, Y. D. I., Taylor, K. D., Correa, A., & 16 othersCrudup, B. F., Halligan, B., Yang, J., Kardia, S. L. R., Launer, L. J., Fu, Y. P., Mosley, T. H., Norris, J. M., Terry, J. G., O'Donnell, C. J., Rotter, J. I., Wagenknecht, L. E., Gudnason, V., Province, M. A., Peyser, P. A. & Speliotes, E. K., Aug 1 2021, In: Human molecular genetics. 30, 15, p. 1443-1456 14 p.

  Research output: Contribution to journal › Article › peer-review

  • Non-alcoholic Fatty Liver Disease 100%
  • Alzheimer Disease 72%
  • Alleles 68%
  • Myocardial Infarction 67%
  • Obesity 64%
  6 Scopus citations

• Altered neuronal physiology, development, and function associated with a common chromosome 15 duplication involving CHRNA7

  Meganathan, K., Prakasam, R., Baldridge, D., Gontarz, P., Zhang, B., Urano, F., Bonni, A., Maloney, S. E., Turner, T. N., Huettner, J. E., Constantino, J. N. & Kroll, K. L., Dec 2021, In: BMC Biology. 19, 1, 147.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Chromosome Duplication 100%
  • Chromosomes, Human, Pair 15 91%
  • chromosome 69%
  • physiology 66%
  • Pharmacologic Agent 64%
  3 Scopus citations

• A mouse-specific retrotransposon drives a conserved Cdk2ap1 isoform essential for development

  Modzelewski, A. J., Shao, W., Chen, J., Lee, A., Qi, X., Noon, M., Tjokro, K., Sales, G., Biton, A., Anand, A., Speed, T. P., Xuan, Z., Wang, T., Risso, D. & He, L., Oct 28 2021, In: Cell. 184, 22, p. 5541-5558.e22

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Retroelements 100%
  • Developmental 92%
  • Protein Isoforms 61%
  • Protein 31%
  • Reaction Yield 30%
  16 Scopus citations

• A MYT1L syndrome mouse model recapitulates patient phenotypes and reveals altered brain development due to disrupted neuronal maturation

  Chen, J., Lambo, M. E., Ge, X., Dearborn, J. T., Liu, Y., McCullough, K. B., Swift, R. G., Tabachnick, D. R., Tian, L., Noguchi, K., Garbow, J. R., Constantino, J. N., Gabel, H. W., Hengen, K. B., Maloney, S. E. & Dougherty, J. D., Dec 1 2021, In: Neuron. 109, 23, p. 3775-3792.e14

  Research output: Contribution to journal › Article › peer-review

  • Microcephaly 100%
  • Obesity 57%
  • Haploinsufficiency 52%
  • Neurons 50%
  • Human Genetics 50%
  7 Scopus citations

• Analysis workflow to assess de novo genetic variants from human whole-exome sequencing

  Diab, N. S., King, S., Dong, W., Allington, G., Sheth, A., Peters, S. T., Kahle, K. T. & Jin, S. C., Mar 19 2021, In: STAR Protocols. 2, 1, p. 100383 1 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Whole Exome Sequencing 100%
  • Workflow 92%
  • Mutation 47%
  1 Scopus citations

• An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

  Undiagnosed Diseases Network, Apr 2021, In: Genetics in Medicine. 23, 4, p. 740-750 11 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Ether 100%
  • Nervous System Diseases 83%
  • Plasmalogens 83%
  • Lipids 58%
  • Spastic Paraparesis 53%
  8 Scopus citations

• A Noncoding Variant near PPP1R3B Promotes Liver Glycogen Storage and MetS, but Protects against Myocardial Infarction

  Kahali, B., Chen, Y., Feitosa, M. F., Bielak, L. F., Oconnell, J. R., Musani, S. K., Hegde, Y., Chen, Y., Stetson, L. C., Guo, X., Fu, Y. P., Smith, A. V., Ryan, K. A., Eiriksdottir, G., Cohain, A. T., Allison, M., Bakshi, A., Bowden, D. W., Budoff, M. J., Carr, J. J., & 26 othersCarskadon, S., Chen, Y. D. I., Correa, A., Crudup, B. F., Du, X., Harris, T. B., Yang, J., Kardia, S. L. R., Launer, L. J., Liu, J., Mosley, T. H., Norris, J. M., Terry, J. G., Palanisamy, N., Schadt, E. E., O'Donnell, C. J., Yerges-Armstrong, L. M., Rotter, J. I., Wagenknecht, L. E., Handelman, S. K., Gudnason, V., Province, M. A., Peyser, P. A., Halligan, B., Palmer, N. D. & Speliotes, E. K., Feb 1 2021, In: Journal of Clinical Endocrinology and Metabolism. 106, 2, p. 372-387 16 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Liver Glycogen 100%
  • Glycogen 93%
  • Metabolic Syndrome 72%
  • Metabolic 63%
  • Myocardial Infarction 56%
  3 Scopus citations

• A novel de novo intronic variant in ITPR1 causes Gillespie syndrome

  Undiagnosed Diseases Network, Aug 2021, In: American Journal of Medical Genetics, Part A. 185, 8, p. 2315-2324 10 p.

  Research output: Contribution to journal › Article › peer-review

  • Aniridia cerebellar ataxia mental deficiency 100%
  • Complementary DNA 19%
  • Cerebellar Hypoplasia 12%
  • Fibroblasts 11%
  • Pupil Disorders 11%

• Association of Damaging Variants in Genes with Increased Cancer Risk among Patients with Congenital Heart Disease

  Seidman, C. E., Morton, S. U., Shimamura, A., Newburger, P. E., Opotowsky, A. R., Quiat, D., Pereira, A. C., Jin, S. C., Gurvitz, M., Brueckner, M., Chung, W. K., Shen, Y., Bernstein, D., Gelb, B. D., Giardini, A., Goldmuntz, E., Kim, R. W., Lifton, R. P., Porter, G. A., Srivastava, D., & 3 othersTristani-Firouzi, M., Newburger, J. W. & Seidman, J. G., Apr 2021, In: JAMA Cardiology. 6, 4, p. 457-462 6 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Heart Diseases 100%
  • Neoplasm Genes 71%
  • Genes 49%
  • Neoplasms 39%
  • Odds Ratio 21%
  16 Scopus citations

• Author Correction: A high-resolution HLA reference panel capturing global population diversity enables multi-ancestry fine-mapping in HIV host response (Nature Genetics, (2021), 53, 10, (1504-1516), 10.1038/s41588-021-00935-7)

  NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, Dec 2021, In: Nature Genetics. 53, 12, p. 1722 1 p.

  Research output: Contribution to journal › Comment/debate

  Open Access

  • Seoul 100%
  • HIV 53%
  • Republic of Korea 46%
  • Population 30%
  • Bioengineering 25%

• Author Correction: Mutations disrupting neuritogenesis genes confer risk for cerebral palsy (Nature Genetics, (2020), 52, 10, (1046-1056), 10.1038/s41588-020-0695-1)

  Jin, S. C., Lewis, S. A., Bakhtiari, S., Zeng, X., Sierant, M. C., Shetty, S., Nordlie, S. M., Elie, A., Corbett, M. A., Norton, B. Y., van Eyk, C. L., Haider, S., Guida, B. S., Magee, H., Liu, J., Pastore, S., Vincent, J. B., Brunstrom-Hernandez, J., Papavasileiou, A., Fahey, M. C., & 57 othersBerry, J. G., Harper, K., Zhou, C., Zhang, J., Li, B., Zhao, H., Heim, J., Webber, D. L., Frank, M. S. B., Xia, L., Xu, Y., Zhu, D., Zhang, B., Sheth, A. H., Knight, J. R., Castaldi, C., Tikhonova, I. R., López-Giráldez, F., Keren, B., Whalen, S., Buratti, J., Doummar, D., Cho, M., Retterer, K., Millan, F., Wang, Y., Waugh, J. L., Rodan, L., Cohen, J. S., Fatemi, A., Lin, A. E., Phillips, J. P., Feyma, T., MacLennan, S. C., Vaughan, S., Crompton, K. E., Reid, S. M., Reddihough, D. S., Shang, Q., Gao, C., Novak, I., Badawi, N., Wilson, Y. A., McIntyre, S. J., Mane, S. M., Wang, X., Amor, D. J., Zarnescu, D. C., Lu, Q., Xing, Q., Zhu, C., Bilguvar, K., Padilla-Lopez, S., Lifton, R. P., Gecz, J., MacLennan, A. H. & Kruer, M. C., Mar 2021, In: Nature Genetics. 53, 3, p. 412 1 p.

  Research output: Contribution to journal › Comment/debate

  Open Access

  • Cerebral Palsy 100%
  • Mutation 53%
  • Genes 38%

• Author Correction: Inherited causes of clonal haematopoiesis in 97,691 whole genomes (Nature, (2020), 586, 7831, (763-768), 10.1038/s41586-020-2819-2)

  NHLBI Trans-Omics for Precision Medicine Consortium, Mar 25 2021, In: Nature. 591, 7851, p. E27

  Research output: Contribution to journal › Comment/debate

  Open Access

  • Hematopoiesis 100%
  • Genome 62%
  • Medical Oncology 54%
  • Computational Biology 43%
  • Neoplasms 14%
  2 Scopus citations

• Automated CUT&Tag profiling of chromatin heterogeneity in mixed-lineage leukemia

  Janssens, D. H., Meers, M. P., Wu, S. J., Babaeva, E., Meshinchi, S., Sarthy, J. F., Ahmad, K. & Henikoff, S., Nov 2021, In: Nature Genetics. 53, 11, p. 1586-1596 11 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Chromatin 100%
  • Leukemia 92%
  • histone H3 trimethyl Lys4 65%
  • Genetic Translocation 28%
  • Automation 27%
  11 Scopus citations

• Basal epithelial stem cells cross an alarmin checkpoint for postviral lung disease

  Wu, K., Kamimoto, K., Zhang, Y., Yang, K., Keeler, S. P., Gerovac, B. J., Agapov, E. V., Austin, S. P., Yantis, J., Gissy, K. A., Byers, D. E., Alexander-Brett, J., Hoffmann, C. M., Wallace, M., Hughes, M. E., Crouch, E. C., Morris, S. A. & Holtzman, M. J., Oct 2021, In: Journal of Clinical Investigation. 131, 19, e149336.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Alarmins 100%
  • Lung Diseases 59%
  • Interleukin-33 54%
  • Stem Cells 48%
  • Epithelial Cells 47%
  11 Scopus citations

• Biallelic loss-of-function variants in the splicing regulator NSRP1 cause a severe neurodevelopmental disorder with spastic cerebral palsy and epilepsy

  Calame, D. G., Bakhtiari, S., Logan, R., Coban-Akdemir, Z., Du, H., Mitani, T., Fatih, J. M., Hunter, J. V., Herman, I., Pehlivan, D., Jhangiani, S. N., Person, R., Schnur, R. E., Jin, S. C., Bilguvar, K., Posey, J. E., Koh, S., Firouzabadi, S. G., Alehabib, E., Tafakhori, A., & 8 othersEsmkhani, S., Gibbs, R. A., Noureldeen, M. M., Zaki, M. S., Marafi, D., Darvish, H., Kruer, M. C. & Lupski, J. R., Dec 2021, In: Genetics in Medicine. 23, 12, p. 2455-2460 6 p.

  Research output: Contribution to journal › Article › peer-review

  • Protein Splicing 100%
  • Neurodevelopmental Disorders 80%
  • Cerebral Palsy 71%
  • Epilepsy 57%
  • Microcephaly 33%
  2 Scopus citations

• Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia

  Genomics England Research Consortium, PREPARE network, May 1 2021, In: Brain. 144, 5, p. 1422-1434 13 p.

  Research output: Contribution to journal › Article › peer-review

  • 4-Hydroxyphenylpyruvate Dioxygenase 100%
  • Hereditary Spastic Paraplegia 77%
  • 4-hydroxyphenylpyruvic acid 9%
  • Nervous System 8%
  • Oxygenases 7%
  9 Scopus citations

• Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss

  Richard, E. M., Bakhtiari, S., Marsh, A. P. L., Kaiyrzhanov, R., Wagner, M., Shetty, S., Pagnozzi, A., Nordlie, S. M., Guida, B. S., Cornejo, P., Magee, H., Liu, J., Norton, B. Y., Webster, R. I., Worgan, L., Hakonarson, H., Li, J., Guo, Y., Jain, M., Blesson, A., & 85 othersRodan, L. H., Abbott, M. A., Comi, A., Cohen, J. S., Alhaddad, B., Meitinger, T., Lenz, D., Ziegler, A., Kotzaeridou, U., Brunet, T., Chassevent, A., Smith-Hicks, C., Ekstein, J., Weiden, T., Hahn, A., Zharkinbekova, N., Turnpenny, P., Tucci, A., Yelton, M., Horvath, R., Gungor, S., Hiz, S., Oktay, Y., Lochmuller, H., Zollino, M., Morleo, M., Marangi, G., Nigro, V., Torella, A., Pinelli, M., Amenta, S., Husain, R. A., Grossmann, B., Rapp, M., Steen, C., Marquardt, I., Grimmel, M., Grasshoff, U., Korenke, G. C., Owczarek-Lipska, M., Neidhardt, J., Radio, F. C., Mancini, C., Claps Sepulveda, D. J., McWalter, K., Begtrup, A., Crunk, A., Guillen Sacoto, M. J., Person, R., Schnur, R. E., Mancardi, M. M., Kreuder, F., Striano, P., Zara, F., Chung, W. K., Marks, W. A., van Eyk, C. L., Webber, D. L., Corbett, M. A., Harper, K., Berry, J. G., MacLennan, A. H., Gecz, J., Tartaglia, M., Salpietro, V., Christodoulou, J., Kaslin, J., Padilla-Lopez, S., Bilguvar, K., Munchau, A., Ahmed, Z. M., Hufnagel, R. B., Fahey, M. C., Maroofian, R., Houlden, H., Sticht, H., Mane, S. M., Rad, A., Vona, B., Jin, S. C., Haack, T. B., Makowski, C., Hirsch, Y., Riazuddin, S. & Kruer, M. C., Oct 7 2021, In: American journal of human genetics. 108, 10, p. 2006-2016 11 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Spermatogenesis 100%
  • Cerebral Palsy 96%
  • Hearing Loss 87%
  • Intellectual Disability 87%
  • Epilepsy 77%
  2 Scopus citations

• BRAF mutations may identify a clinically distinct subset of glioblastoma

  McNulty, S. N., Schwetye, K. E., Ferguson, C., Storer, C. E., Ansstas, G., Kim, A. H., Gutmann, D. H., Rubin, J. B., Head, R. D. & Dahiya, S., Dec 2021, In: Scientific reports. 11, 1, 19999.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Glioblastoma 100%
  • Mutation 56%
  • Neoplasms 32%
  • Gain of Function Mutation 14%
  • Immune Evasion 14%
  5 Scopus citations

• Brd4-bound enhancers drive cell-intrinsic sex differences in glioblastoma

  Kfoury, N., Qi, Z., Prager, B. C., Wilkinson, M. N., Broestl, L., Berrett, K. C., Moudgil, A., Sankararaman, S., Chen, X., Gertz, J., Rich, J. N., Mitra, R. D. & Rubin, J. B., Apr 20 2021, In: Proceedings of the National Academy of Sciences of the United States of America. 118, 16, e2017148118.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Glioblastoma 100%
  • Sex Characteristics 94%
  • Stem Cells 24%
  • Neoplasms 14%
  • Phenotype 13%
  5 Scopus citations

• Challenges for Computational Stem Cell Biology: A Discussion for the Field

  Rackham, O., Cahan, P., Mah, N., Morris, S., Ouyang, J. F., Plant, A. L., Tanaka, Y. & Wells, C. A., Jan 12 2021, In: Stem Cell Reports. 16, 1, p. 3-9 7 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Stem Cell Research 100%
  • Cell Biology 65%
  • Stem Cells 55%
  2 Scopus citations

• Chromosome Xq23 is associated with lower atherogenic lipid concentrations and favorable cardiometabolic indices

  NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium & FinnGen, Dec 1 2021, In: Nature communications. 12, 1, 2182.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • chromosomes 100%
  • lipids 80%
  • Chromosomes 64%
  • blood 62%
  • Lipid 56%
  5 Scopus citations

• Circulating Procollagen Type III N-Terminal Peptide and Physical Function in Adults from the Long Life Family Study

  Santanasto, A. J., Cvejkus, R. K., Wojczynski, M. K., Marron, M. M., Schupf, N., Christensen, K., Thyagarajan, B. & Zmuda, J. M., Jun 14 2021, In: Journals of Gerontology - Series A Biological Sciences and Medical Sciences. 76, 7, p. 1273-1279 7 p.

  Research output: Contribution to journal › Article › peer-review

  • procollagen Type III-N-terminal peptide 100%
  • Walking Speed 75%
  • Hand Strength 33%
  • Physical Functional Performance 17%
  • Longevity 14%
  2 Scopus citations

• Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science

  Undiagnosed Diseases Network, Feb 2021, In: Genetics in Medicine. 23, 2, p. 259-271 13 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Undiagnosed Diseases 100%
  • Medicine 47%
  • Exome 22%
  • Genetic Association Studies 19%
  • Genome 12%
  7 Scopus citations

• Coding and noncoding variants in EBF3 are involved in HADDS and simplex autism

  Padhi, E. M., Hayeck, T. J., Cheng, Z., Chatterjee, S., Mannion, B. J., Byrska-Bishop, M., Willems, M., Pinson, L., Redon, S., Benech, C., Uguen, K., Audebert-Bellanger, S., Le Marechal, C., Férec, C., Efthymiou, S., Rahman, F., Maqbool, S., Maroofian, R., Houlden, H., Musunuri, R., & 15 othersNarzisi, G., Abhyankar, A., Hunter, R. D., Akiyama, J., Fries, L. E., Ng, J. K., Mehinovic, E., Stong, N., Allen, A. S., Dickel, D. E., Bernier, R. A., Gorkin, D. U., Pennacchio, L. A., Zody, M. C. & Turner, T. N., Dec 2021, In: Human genomics. 15, 1, 44.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Muscle Hypotonia 100%
  • Enhancer 98%
  • Ataxia 87%
  • Autistic Disorder 82%
  • Neurodevelopmental Disorders 81%
  4 Scopus citations

• Combined effect of lead exposure and allostatic load on cardiovascular disease mortality—A preliminary study

  Obeng-Gyasi, E., Ferguson, A. C., Stamatakis, K. A. & Province, M. A., Jul 1 2021, In: International journal of environmental research and public health. 18, 13, 6879.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Allostasis 100%
  • cardiovascular disease 82%
  • Lead 60%
  • Marker 57%
  • mortality 55%
  8 Scopus citations

• Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases

  Undiagnosed Diseases Network, Jun 1 2021, In: Genetics in Medicine. 23, 6, p. 1075-1085 11 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Workflow 100%
  • Undiagnosed Diseases 46%
  • Genetic Testing 31%
  • Quality Control 29%
  3 Scopus citations

• Common DNA methylation dynamics in endometriod adenocarcinoma and glioblastoma suggest universal epigenomic alterations in tumorigenesis

  Karlow, J. A., Miao, B., Xing, X., Wang, T. & Zhang, B., Dec 2021, In: Communications Biology. 4, 1, 607.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • glioblastoma 100%
  • adenocarcinoma 81%
  • carcinogenesis 73%
  • DNA methylation 72%
  • epigenetics 67%
  2 Scopus citations

• Computational Stem Cell Biology: Open Questions and Guiding Principles

  Cahan, P., Cacchiarelli, D., Dunn, S. J., Hemberg, M., de Sousa Lopes, S. M. C., Morris, S. A., Rackham, O. J. L., del Sol, A. & Wells, C. A., Jan 7 2021, In: Cell Stem Cell. 28, 1, p. 20-32 13 p.

  Research output: Contribution to journal › Review article › peer-review

  Open Access

  • Stem Cell Research 100%
  • Cell Lineage 78%
  • Computational Biology 70%
  • Cell Biology 65%
  • Stem Cells 55%
  8 Scopus citations

• Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations (Genetics in Medicine, (2021), 23, 10, (1922-1932), 10.1038/s41436-021-01232-8)

  Undiagnosed Diseases Network, Oct 2021, In: Genetics in Medicine. 23, 10, p. 2016 1 p.

  Research output: Contribution to journal › Comment/debate

  Open Access

  • Neurologic Manifestations 100%
  • Names 93%
  • Medicine 72%

• Correction to: An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids (Genetics in Medicine (2021) 23(4) (740–750), (S1098360021024461), (10.1038/s41436-020-01027-3))

  Undiagnosed Diseases Network, Dec 2021, In: Genetics in Medicine. 23, 12, p. 2467 1 p.

  Research output: Contribution to journal › Comment/debate

  Open Access

  • Ether 100%
  • Nervous System Diseases 83%
  • Medicine 65%
  • Lipids 58%
  1 Scopus citations

• CRISPRi screens reveal a DNA methylation-mediated 3D genome dependent causal mechanism in prostate cancer

  Ahmed, M., Soares, F., Xia, J. H., Yang, Y., Li, J., Guo, H., Su, P., Tian, Y., Lee, H. J., Wang, M., Akhtar, N., Houlahan, K. E., Bosch, A., Zhou, S., Mazrooei, P., Hua, J. T., Chen, S., Petricca, J., Zeng, Y., Davies, A., & 12 othersFraser, M., Quigley, D. A., Feng, F. Y., Boutros, P. C., Lupien, M., Zoubeidi, A., Wang, L., Walsh, M. J., Wang, T., Ren, S., Wei, G. H. & He, H. H., Dec 1 2021, In: Nature communications. 12, 1, 1781.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • H3K27Ac 100%
  • methylation 65%
  • genome 53%
  • DNA Methylation 40%
  • cancer 38%
  10 Scopus citations

• Crohn's disease-associated ATG16L1 T300A genotype is associated with improved survival in gastric cancer

  Ma, C., Storer, C. E., Chandran, U., LaFramboise, W. A., Petrosko, P., Frank, M., Hartman, D. J., Pantanowitz, L., Haritunians, T., Head, R. D. & Liu, T. C., May 2021, In: EBioMedicine. 67, 103347.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • P62 100%
  • Apoptosis Induction 88%
  • Crohn Disease 57%
  • Stomach Neoplasms 52%
  • Nucleotide 49%
  4 Scopus citations

• Current Smoking Raises Risk of Incident Hypertension: Hispanic Community Health Study-Study of Latinos

  Kaplan, R. C., Baldoni, P. L., Strizich, G. M., Pérez-Stable, E. J., Saccone, N. L., Peralta, C. A., Perreira, K. M., Gellman, M. D., Williams-Nguyen, J. S., Rodriguez, C. J., Lee, D. J., Daviglus, M., Talavera, G. A., Lash, J. P., Cai, J. & Franceschini, N., Feb 1 2021, In: American Journal of Hypertension. 34, 2, p. 190-197 8 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Hispanic Americans 100%
  • Smoking 75%
  • Public Health 74%
  • Hypertension 67%
  • Smokers 58%
  7 Scopus citations

• Deconstructing Stepwise Fate Conversion of Human Fibroblasts to Neurons by MicroRNAs

  Cates, K., McCoy, M. J., Kwon, J. S., Liu, Y., Abernathy, D. G., Zhang, B., Liu, S., Gontarz, P., Kim, W. K., Chen, S., Kong, W., Ho, J. N., Burbach, K. F., Gabel, H. W., Morris, S. A. & Yoo, A. S., Jan 7 2021, In: Cell Stem Cell. 28, 1, p. 127-140.e9

  Research output: Contribution to journal › Article › peer-review

  • MicroRNAs 100%
  • Fibroblasts 88%
  • Neurons 73%
  • Small Nuclear RNA 43%
  • Motor Neurons 28%
  17 Scopus citations

• Detection of a mosaic CDKL5 deletion and inversion by optical genome mapping ends an exhaustive diagnostic odyssey

  Undiagnosed Diseases Network, Jul 2021, In: Molecular Genetics and Genomic Medicine. 9, 7, e1665.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Chromosome Mapping 100%
  • CDKL5 deficiency disorder 27%
  • Technology 26%
  • Genome 18%
  • Exome 16%
  2 Scopus citations

• DIAPH1 Variants in Non-East Asian Patients with Sporadic Moyamoya Disease

  Kundishora, A. J., Peters, S. T., Pinard, A., Duran, D., Panchagnula, S., Barak, T., Miyagishima, D. F., Dong, W., Smith, H., Ocken, J., Dunbar, A., Nelson-Williams, C., Haider, S., Walker, R. L., Li, B., Zhao, H., Thumkeo, D., Marlier, A., Duy, P. Q., Diab, N. S., & 28 othersReeves, B. C., Robert, S. M., Sujijantarat, N., Stratman, A. N., Chen, Y. H., Zhao, S., Roszko, I., Lu, Q., Zhang, B., Mane, S., Castaldi, C., López-Giráldez, F., Knight, J. R., Bamshad, M. J., Nickerson, D. A., Geschwind, D. H., Chen, S. S. L., Storm, P. B., Diluna, M. L., Matouk, C. C., Orbach, D. B., Alper, S. L., Smith, E. R., Lifton, R. P., Gunel, M., Milewicz, D. M., Jin, S. C. & Kahle, K. T., Aug 2021, In: JAMA Neurology. 78, 8, p. 993-1003 11 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Moyamoya Disease 100%
  • Genes 18%
  • Actins 17%
  • Moyamoya disease 1 13%
  • Exome 8%
  10 Scopus citations

• Differences in the number of de novo mutations between individuals are due to small family-specific effects and stochasticity

  Goldmann, J. M., Hampstead, J. E., Wong, W. S. W., Wilfert, A. B., Turner, T. N., Jonker, M. A., Bernier, R., Huynen, M. A., Eichler, E. E., Veltman, J. A., Maxwell, G. L. & Gilissen, C., Sep 2021, In: Genome research. 31, 9, p. 1513-1518 6 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Mutation 100%
  • Stochastic Processes 30%
  • Parents 29%
  • Dizygotic Twins 26%
  • Siblings 18%

• Differential usage of transcriptional repressor Zeb2 enhancers distinguishes adult and embryonic hematopoiesis

  Huang, X., Ferris, S. T., Kim, S., Choudhary, M. N. K., Belk, J. A., Fan, C., Qi, Y., Sudan, R., Xia, Y., Desai, P., Chen, J., Ly, N., Shi, Q., Bagadia, P., Liu, T., Guilliams, M., Egawa, T., Colonna, M., Diamond, M. S., Murphy, T. L., & 3 othersSatpathy, A. T., Wang, T. & Murphy, K. M., Jul 13 2021, In: Immunity. 54, 7, p. 1417-1432.e7

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Hematopoiesis 100%
  • Hematopoietic Stem Cells 90%
  • E-Box Elements 68%
  • Cell Lineage 48%
  • Dendritic Cells 41%
  2 Scopus citations