Jacqueline Harris

Research output

Research output per year 2008 2022 2023 2024

• 26 Article
• 2 Review article

Research output per year

Research output per year

Search results

• 2024

  Associations Between Executive Functioning, Behavioral Functioning, and Adaptive Functioning Difficulties in Wiedemann–Steiner Syndrome

  Ng, R., Bjornsson, H. T., Fahrner, J. A. & Harris, J., Mar 1 2024, In: Archives of Clinical Neuropsychology. 39, 2, p. 186-195 10 p.

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

  • Psychological Adaptation 100%
  • N syndrome 38%
  • Equipment and Supplies 25%
  • deficit 23%
  • flexibility 22%

• Attention challenges in Kabuki syndrome

  Kalinousky, A. J., Rapp, T. & Harris, J. R., Feb 2024, In: Journal of Intellectual Disability Research. 68, 2, p. 173-180 8 p.

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

  • Kabuki syndrome 100%
  • Kabuki 86%
  • Syndrome 52%
  • Child 25%
  • Siblings 24%

• KMT2D Deficiency Causes Sensorineural Hearing Loss in Mice and Humans

  Kalinousky, A. J., Luperchio, T. R., Schrode, K. M., Harris, J., Zhang, L., DeLeon, V. B., Fahrner, J. A., Lauer, A. M. & Bjornsson, H. T., Jan 2024, In: Genes. 15, 1, 48.

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

  Open Access

  • Kabuki syndrome 100%
  • Sensorineural Hearing Loss 67%
  • Hearing Loss 38%
  • Hearing 26%
  • CHARGE Syndrome 15%
• 2023

  Anxiety in Wiedemann–Steiner syndrome

  Ng, R., Bjornsson, H. T., Fahrner, J. A. & Harris, J., Feb 2023, In: American Journal of Medical Genetics, Part A. 191, 2, p. 437-444 8 p.

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

  • Anxiety 100%
  • Anxiety Disorders 45%
  • Parents 34%
  • Separation Anxiety 33%
  • Emotional Regulation 26%

• Behavioral and neuropsychiatric challenges across the lifespan in individuals with Rubinstein-Taybi syndrome

  Qu’d, D., Schmitt, L. M., Leston, A., Harris, J. R., Slavotinek, A., Riddle, I., Brightman, D. S. & Simpson, B. N., 2023, In: Frontiers in Genetics. 14, 1116919.

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

  Open Access

  • Rubinstein-Taybi Syndrome 100%
  • Longevity 54%
  • Psychological Adaptation 18%
  • Anxiety 7%
  • Hallux 7%

• Development of informant-report neurobehavioral survey scales for PTEN hamartoma tumor syndrome and related neurodevelopmental genetic syndromes

  Frazier, T. W., Busch, R. M., Klaas, P., Lachlan, K., Jeste, S., Kolevzon, A., Loth, E., Harris, J., Speer, L., Pepper, T., Anthony, K., Graglia, J. M., Delagrammatikas, C., Bedrosian-Sermone, S., Beekhuyzen, J., Smith-Hicks, C., Sahin, M., Eng, C., Hardan, A. Y. & Uljarević, M., Jul 2023, In: American Journal of Medical Genetics, Part A. 191, 7, p. 1741-1757 17 p.

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

  Open Access

  • Multiple Hamartoma Syndrome 100%
  • Neurodevelopmental Disorders 33%
  • Psychometrics 17%
  • Discriminant Analysis 10%
  • Clinical Trials 6%

• Development of webcam-collected and artificial-intelligence-derived social and cognitive performance measures for neurodevelopmental genetic syndromes

  Frazier, T. W., Busch, R. M., Klaas, P., Lachlan, K., Jeste, S., Kolevzon, A., Loth, E., Harris, J., Speer, L., Pepper, T., Anthony, K., Graglia, J. M., Delagrammatikas, C. G., Bedrosian-Sermone, S., Smith-Hicks, C., Huba, K., Longyear, R., Green-Snyder, L. A., Shic, F., Sahin, M., & 3 othersEng, C., Hardan, A. Y. & Uljarević, M., Sep 2023, In: American Journal of Medical Genetics, Part C: Seminars in Medical Genetics. 193, 3, e32058.

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

  Open Access

  • Artificial Intelligence 100%
  • Mutation 31%
  • Vocabulary 23%
  • Discriminant Analysis 21%
  • Intellectual Disability 17%

• Five years of experience in the Epigenetics and Chromatin Clinic: what have we learned and where do we go from here?

  Harris, J. R., Gao, C. W., Britton, J. F., Applegate, C. D., Bjornsson, H. T. & Fahrner, J. A., 2023, (Accepted/In press) In: Human genetics.

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

  Open Access

  • Chromatin 100%
  • Epigenomics 98%
  • Intellectual Disability 21%
  • Psychological Imprinting 16%
  • DNA Fingerprinting 14%

• Individuals with Wiedemann-Steiner syndrome show nonverbal reasoning and visuospatial defects with relative verbal skill sparing

  Ng, R., Harris, J., Fahrner, J. A. & Bjornsson, H. T., Jun 5 2023, In: Journal of the International Neuropsychological Society. 29, 5, p. 512-518 7 p.

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

  Open Access

  • Memory 100%
  • Short-Term Memory 85%
  • Kabuki syndrome 76%
  • visual perception 70%
  • Vocabulary 56%

• The social phenotype associated with Wiedemann-Steiner syndrome: Autistic traits juxtaposed with high social drive and prosociality

  Ng, R., Kalinousky, A., Fahrner, J. A., Bjornsson, H. T. & Harris, J., Oct 2023, In: American Journal of Medical Genetics, Part A. 191, 10, p. 2591-2601 11 p.

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

  • Drive 100%
  • Autism Spectrum Disorder 67%
  • Intellectual Disability 60%
  • Phenotype 58%
  • Motivation 52%

• Unique profile of academic learning difficulties in Wiedemann–Steiner syndrome

  Ng, R., Bjornsson, H. T., Fahrner, J. A. & Harris, J., Feb 2023, In: Journal of Intellectual Disability Research. 67, 2, p. 101-111 11 p.

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

  • Syndrome 100%
  • Learning 83%
  • Rating 82%
  • Reading 57%
  • Screening 27%
• 2022

  An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome

  Choufani, S., McNiven, V., Cytrynbaum, C., Jangjoo, M., Adam, M. P., Bjornsson, H. T., Harris, J., Dyment, D. A., Graham, G. E., Nezarati, M. M., Aul, R. B., Castiglioni, C., Breckpot, J., Devriendt, K., Stewart, H., Banos-Pinero, B., Mehta, S., Sandford, R., Dunn, C., Mathevet, R., & 42 othersvan Maldergem, L., Piard, J., Brischoux-Boucher, E., Vitobello, A., Faivre, L., Bournez, M., Tran-Mau, F., Maystadt, I., Fernández-Jaén, A., Alvarez, S., García-Prieto, I. D., Alkuraya, F. S., Alsaif, H. S., Rahbeeni, Z., El-Akouri, K., Al-Mureikhi, M., Spillmann, R. C., Shashi, V., Sanchez-Lara, P. A., Graham, J. M., Roberts, A., Chorin, O., Evrony, G. D., Kraatari-Tiri, M., Dudding-Byth, T., Richardson, A., Hunt, D., Hamilton, L., Dyack, S., Mendelsohn, B. A., Rodríguez, N., Sánchez-Martínez, R., Tenorio-Castaño, J., Nevado, J., Lapunzina, P., Tirado, P., Carminho Amaro Rodrigues, M. T., Quteineh, L., Innes, A. M., Kline, A. D., Au, P. Y. B. & Weksberg, R., Oct 6 2022, In: American journal of human genetics. 109, 10, p. 1867-1884 18 p.

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

  Open Access

  • DNA Methylation 100%
  • Kabuki syndrome 33%
  • Neurodevelopmental Disorders 11%
  • Genetic Association Studies 10%
  • Chromatin 8%

• Genome-wide DNA methylation profiling confirms a case of low-level mosaic Kabuki syndrome 1

  Montano, C., Britton, J. F., Harris, J. R., Kerkhof, J., Barnes, B. T., Lee, J. A., Sadikovic, B., Sobreira, N. & Fahrner, J. A., Jul 2022, In: American Journal of Medical Genetics, Part A. 188, 7, p. 2217-2225 9 p.

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

  Open Access

  • Kabuki syndrome 100%
  • DNA Fingerprinting 74%
  • DNA Methylation 59%
  • Genome 40%
  • Epigenomics 26%

• Neurobehavioral phenotype of Kabuki syndrome: Anxiety is a common feature

  Kalinousky, A. J., Rapp, T., Hijazi, H., Johnson, J., Bjornsson, H. T. & Harris, J. R., Oct 6 2022, In: Frontiers in Genetics. 13, 1007046.

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

  Open Access

  • Kabuki syndrome 100%
  • Anxiety 42%
  • Phenotype 36%
  • Siblings 12%
  • Neurogenesis 9%

• Sleep disturbance is a common feature of Kabuki syndrome

  Rapp, T., Kalinousky, A. J., Johnson, J., Bjornsson, H. & Harris, J., Oct 2022, In: American Journal of Medical Genetics, Part A.

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

  • Kabuki syndrome 100%
  • Sleep 46%
  • Epigenomics 9%
  • Anxiety 7%
  • Quality of Life 7%

• Sleep disturbances correlate with behavioral problems among individuals with Wiedemann-Steiner syndrome

  Ng, R., Bjornsson, H. T., Fahrner, J. A. & Harris, J., Oct 13 2022, In: Frontiers in Genetics. 13, 950082.

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

  Open Access

  • Sleep 74%
  • Caregivers 16%
  • Mouth Breathing 14%
  • Parasomnias 14%
  • Ceremonial Behavior 12%
• 2021

  Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome

  Sheppard, S. E., Campbell, I. M., Harr, M. H., Gold, N., Li, D., Bjornsson, H. T., Cohen, J. S., Fahrner, J. A., Fatemi, A., Harris, J. R., Nowak, C., Stevens, C. A., Grand, K., Au, M., Graham, J. M., Sanchez-Lara, P. A., Campo, M. D., Jones, M. C., Abdul-Rahman, O., Alkuraya, F. S., & 83 othersBassetti, J. A., Bergstrom, K., Bhoj, E., Dugan, S., Kaplan, J. D., Derar, N., Gripp, K. W., Hauser, N., Innes, A. M., Keena, B., Kodra, N., Miller, R., Nelson, B., Nowaczyk, M. J., Rahbeeni, Z., Ben-Shachar, S., Shieh, J. T., Slavotinek, A., Sobering, A. K., Abbott, M. A., Allain, D. C., Amlie-Wolf, L., Au, P. Y. B., Bedoukian, E., Beek, G., Barry, J., Berg, J., Bernstein, J. A., Cytrynbaum, C., Chung, B. H. Y., Donoghue, S., Dorrani, N., Eaton, A., Flores-Daboub, J. A., Dubbs, H., Felix, C. A., Fong, C. T., Fung, J. L. F., Gangaram, B., Goldstein, A., Greenberg, R., Ha, T. K., Hersh, J., Izumi, K., Kallish, S., Kravets, E., Kwok, P. Y., Jobling, R. K., Knight Johnson, A. E., Kushner, J., Lee, B. H., Levin, B., Lindstrom, K., Manickam, K., Mardach, R., McCormick, E., McLeod, D. R., Mentch, F. D., Minks, K., Muraresku, C., Nelson, S. F., Porazzi, P., Pichurin, P. N., Powell-Hamilton, N. N., Powis, Z., Ritter, A., Rogers, C., Rohena, L., Ronspies, C., Schroeder, A., Stark, Z., Starr, L., Stoler, J., Suwannarat, P., Velinov, M., Weksberg, R., Wilnai, Y., Zadeh, N., Zand, D. J., Falk, M. J., Hakonarson, H., Zackai, E. H. & Quintero-Rivera, F., Jun 2021, In: American Journal of Medical Genetics, Part A. 185, 6, p. 1649-1665 17 p.

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

  Open Access

  • Hairy elbows 100%
  • Intellectual Disability 90%
  • Hypertrichosis 70%
  • Indigenous Peoples 66%
  • Failure to Thrive 60%

• Sleep, behavior, and adaptive function in KAT6A syndrome

  Smith, C. & Harris, J., Aug 2021, In: Brain Sciences. 11, 8, 966.

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

  Open Access

  • Psychological Adaptation 100%
  • Sleep 67%
  • Sleep Apnea Syndromes 15%
  • Child Behavior 7%
  • Checklist 7%
• 2020

  Characterization of an unbalanced translocation causing 3q28qter duplication and 10q26.2qter deletion in a patient with global developmental delay and self-injury

  Osei-Owusu, I. A., Norris, A. L., Joynt, A. T., Thorpe, J., Cho, S., Tierney, E., Schmidt, J., Hagopian, L., Harris, J. & Pevsner, J., Dec 2020, In: Cold Spring Harbor Molecular Case Studies. 6, 6, a005884.

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

  Open Access

  • Self-Injurious Behavior 100%
  • Mothers 51%
  • Stereotypic Movement Disorder 35%
  • Chromosomes, Human, Pair 3 26%
  • Maternal Inheritance 25%

• De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder

  Undiagnosed Diseases Network, & University of Washington Center for Mendelian Genomics (UW-CMG), Mar 1 2020, In: Genetics in Medicine. 22, 3, p. 538-546 9 p.

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

  Open Access

  • Neurodevelopmental Disorders 100%
  • Zinc Fingers 96%
  • Autism Spectrum Disorder 88%
  • Intellectual Disability 68%
  • Proteins 31%
  2 Scopus citations
• 2019

  Kabuki syndrome: International consensus diagnostic criteria

  Adam, M. P., Banka, S., Bjornsson, H. T., Bodamer, O., Chudley, A. E., Harris, J., Kawame, H., Lanpher, B. C., Lindsley, A. W., Merla, G., Miyake, N., Okamoto, N., Stumpel, C. T. & Niikawa, N., Feb 1 2019, In: Journal of medical genetics. 56, 2, p. 89-95 7 p.

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

  • Kabuki syndrome 100%
  • Consensus 56%
  • Molecular Biology 19%
  • Nictitating Membrane 17%
  • Eyebrows 16%
  42 Scopus citations

• Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability

  CAUSES Study & Deciphering Developmental Disorders Study, Mar 7 2019, In: American journal of human genetics. 104, 3, p. 530-541 12 p.

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

  Open Access

  • Gene Components 100%
  • Histone Acetyltransferases 95%
  • Protein Domains 72%
  • Autistic Disorder 72%
  • Intellectual Disability 68%

• Vigabatrin as a Targeted Treatment of GABA_B Receptor-Related Epileptic Encephalopathy

  Chin, E. M., Cohen, J. S. & Harris, J., Oct 2019, In: Pediatric Neurology. 99, p. 82-84 3 p.

  Research output: Contribution to journal › Article › peer-review
• 2014

  Abnormalities of the DNA methylation mark and its machinery: An emerging cause of neurologic dysfunction

  Weissman, J., Naidu, S. & Bjornsson, H. T., Jul 1 2014, In: Seminars in neurology. 34, 3, p. 249-257 9 p.

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

  Open Access

  • Neurologic Manifestations 100%
  • DNA Methylation 97%
  • Epigenomics 86%
  • Methyltransferases 73%
  • Topoisomerase Inhibitors 50%
  16 Scopus citations

• Histone deacetylase inhibition rescues structural and functional brain deficits in a mouse model of Kabuki syndrome

  Bjornsson, H. T., Benjamin, J. S., Zhang, L., Weissman, J., Gerber, E. E., Chen, Y. C., Vaurio, R. G., Potter, M. C., Hansen, K. D. & Dietz, H. C., Oct 1 2014, In: Science translational medicine. 6, 256, 256ra135.

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

  Open Access

  • Kabuki syndrome 100%
  • Histone Deacetylases 69%
  • Psychological Inhibition 48%
  • histone H3 trimethyl Lys4 43%
  • Chromatin 39%
  86 Scopus citations
• 2008

  Mitochondrial disease in autism spectrum disorder patients: A cohort analysis

  Weissman, J. R., Kelley, R. I., Bauman, M. L., Cohen, B. H., Murray, K. F., Mitchell, R. L., Kern, R. L. & Natowicz, M. R., Nov 26 2008, In: PloS one. 3, 11, e3815.

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

  Open Access

  • Mitochondrial Diseases 100%
  • Autism Spectrum Disorder 83%
  • Cohort Studies 54%
  • Autistic Disorder 44%
  • Electron Transport 19%
  166 Scopus citations