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Ricardo Simeon Harripaul, Ph.D.

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Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
  1. Villani A, Davidson S, Kanwar N, Lo WW, Li Y, Cohen-Gogo S, Fuligni F, Edward LM, Light N, Layeghifard M, Harripaul R, Waldman L, Gallinger B, Comitani F, Brunga L, Hayes R, Anderson ND, Ramani AK, Yuki KE, Blay S, Johnstone B, Inglese C, Hammad R, Goudie C, Shuen A, Wasserman JD, Venier RE, Eliou M, Lorenti M, Ryan CA, Braga M, Gloven-Brown M, Han J, Montero M, Spatare F, Whitlock JA, Scherer SW, Chun K, Somerville MJ, Hawkins C, Abdelhaleem M, Ramaswamy V, Somers GR, Kyriakopoulou L, Hitzler J, Shago M, Morgenstern DA, Tabori U, Meyn S, Irwin MS, Malkin D, Shlien A. The clinical utility of integrative genomics in childhood cancer extends beyond targetable mutations. Nat Cancer. 2022 Dec 30. PMID: 36585449.
    Citations: 1     
  2. Rabia A, Harripaul R, Mikhailov A, Mahmood S, Maqbool S, Vincent JB, Ayub M. Biallelic Loss of Function Mutation in Sodium Channel Gene SCN10A in an Autism Spectrum Disorder Trio from Pakistan. Genes (Basel). 2022 09 11; 13(9). PMID: 36140801; PMCID: PMC9498319.
    Citations:    Fields:    Translation:Humans
  3. Sheikh TI, Harripaul R, Vasli N, Ghadami M, Santangelo SL, Ayub M, Sasanfar R, Vincent JB. Heterozygous De Novo Truncating Mutation of Nucleolin in an ASD Individual Disrupts Its Nucleolar Localization. Genes (Basel). 2021 12 24; 13(1). PMID: 35052391; PMCID: PMC8774667.
    Citations:    Fields:    Translation:HumansCells
  4. Pastore SF, Muhammad T, Harripaul R, Lau R, Khan MTM, Khan MI, Islam O, Kang C, Ayub M, Jelani M, Vincent JB. Biallelic inheritance in a single Pakistani family with intellectual disability implicates new candidate gene RDH14. Sci Rep. 2021 11 30; 11(1):23113. PMID: 34848785; PMCID: PMC8632963.
    Citations:    Fields:    Translation:HumansCells
  5. Rasheed M, Khan V, Harripaul R, Siddiqui M, Malik MA, Ullah Z, Zahid M, Vincent JB, Ansar M. Exome sequencing identifies novel and known mutations in families with intellectual disability. BMC Med Genomics. 2021 08 27; 14(1):211. PMID: 34452636; PMCID: PMC8399827.
    Citations: 2     Fields:    
  6. Sheikh TI, Vasli N, Pastore S, Kharizi K, Harripaul R, Fattahi Z, Pande S, Naeem F, Hussain A, Mir A, Islam O, Girisha KM, Irfan M, Ayub M, Schwarzer C, Najmabadi H, Shukla A, Sladky VC, Braun VZ, Garcia-Carpio I, Villunger A, Vincent JB. Biallelic mutations in the death domain of PIDD1 impair caspase-2 activation and are associated with intellectual disability. Transl Psychiatry. 2021 01 05; 11(1):1. PMID: 33414379; PMCID: PMC7791037.
    Citations: 5     Fields:    Translation:HumansAnimalsCells
  7. Gul H, Haleem Shah A, Harripaul R, Wajid Abbasi S, Faheem M, Zubair M, Muzammal M, Khan S, B Vincent J, Ahmad Khan M. Homozygosity mapping coupled with whole-exome sequencing and protein modelling identified a novel missense mutation in GUCY2D in a consanguineous Pakistani family with Leber congenital amaurosis. J Genet. 2021; 100. PMID: 34470921.
    Citations:    Fields:    Translation:HumansCells
  8. Manole A, Efthymiou S, O'Connor E, Mendes MI, Jennings M, Maroofian R, Davagnanam I, Mankad K, Lopez MR, Salpietro V, Harripaul R, Badalato L, Walia J, Francklyn CS, Athanasiou-Fragkouli A, Sullivan R, Desai S, Baranano K, Zafar F, Rana N, Ilyas M, Horga A, Kara M, Mattioli F, Goldenberg A, Griffin H, Piton A, Henderson LB, Kara B, Aslanger AD, Raaphorst J, Pfundt R, Portier R, Shinawi M, Kirby A, Christensen KM, Wang L, Rosti RO, Paracha SA, Sarwar MT, Jenkins D, Ahmed J, Santoni FA, Ranza E, Iwaszkiewicz J, Cytrynbaum C, Weksberg R, Wentzensen IM, Guillen Sacoto MJ, Si Y, Telegrafi A, Andrews MV, Baldridge D, Gabriel H, Mohr J, Oehl-Jaschkowitz B, Debard S, Senger B, Fischer F, van Ravenwaaij C, Fock AJM, Stevens SJC, Bähler J, Nasar A, Mantovani JF, Manzur A, Sarkozy A, Smith DEC, Salomons GS, Ahmed ZM, Riazuddin S, Riazuddin S, Usmani MA, Seibt A, Ansar M, Antonarakis SE, Vincent JB, Ayub M, Grimmel M, Jelsig AM, Hjortshøj TD, Karstensen HG, Hummel M, Haack TB, Jamshidi Y, Distelmaier F, Horvath R, Gleeson JG, Becker H, Mandel JL, Koolen DA, Houlden H. De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects. Am J Hum Genet. 2020 08 06; 107(2):311-324. PMID: 32738225; PMCID: PMC7413890.
    Citations: 11     Fields:    Translation:HumansCells
  9. Wang KZ, Bani-Fatemi A, Adanty C, Harripaul R, Griffiths J, Kolla N, Gerretsen P, Graff A, De Luca V. Prediction of physical violence in schizophrenia with machine learning algorithms. Psychiatry Res. 2020 07; 289:112960. PMID: 32361562.
    Citations: 6     Fields:    Translation:Humans
  10. Pastore S, Harripaul R, Azam M, Vincent JB. A novel biallelic single base insertion in WNK1 in a Pakistani family with congenital insensitivity to pain. J Hum Genet. 2020 May; 65(5):493-496. PMID: 32127623.
    Citations:    Fields:    Translation:HumansCTClinical Trials
  11. Melhuish Beaupre LM, Tiwari AK, Gonçalves VF, Lisoway AJ, Harripaul RS, Müller DJ, Zai CC, Kennedy JL. Antidepressant-Associated Mania in Bipolar Disorder: A Review and Meta-analysis of Potential Clinical and Genetic Risk Factors. J Clin Psychopharmacol. 2020 Mar/Apr; 40(2):180-185. PMID: 32134853.
    Citations: 2     Fields:    Translation:Humans
  12. Melhuish Beaupre LM, Gonçalves VF, Zai CC, Tiwari AK, Harripaul RS, Herbert D, Freeman N, Müller DJ, Kennedy JL. Genome-Wide Association Study of Sleep Disturbances in Depressive Disorders. Mol Neuropsychiatry. 2020 Apr; 5(Suppl 1):34-43. PMID: 32399468; PMCID: PMC7206592.
    Citations: 1     
  13. Mirzaa GM, Chong JX, Piton A, Popp B, Foss K, Guo H, Harripaul R, Xia K, Scheck J, Aldinger KA, Sajan SA, Tang S, Bonneau D, Beck A, White J, Mahida S, Harris J, Smith-Hicks C, Hoyer J, Zweier C, Reis A, Thiel CT, Jamra RA, Zeid N, Yang A, Farach LS, Walsh L, Payne K, Rohena L, Velinov M, Ziegler A, Schaefer E, Gatinois V, Geneviève D, Simon MEH, Kohler J, Rotenberg J, Wheeler P, Larson A, Ernst ME, Akman CI, Westman R, Blanchet P, Schillaci LA, Vincent-Delorme C, Gripp KW, Mattioli F, Guyader GL, Gerard B, Mathieu-Dramard M, Morin G, Sasanfar R, Ayub M, Vasli N, Yang S, Person R, Monaghan KG, Nickerson DA, van Binsbergen E, Enns GM, Dries AM, Rowe LJ, Tsai ACH, Svihovec S, Friedman J, Agha Z, Qamar R, Rodan LH, Martinez-Agosto J, Ockeloen CW, Vincent M, Sunderland WJ, Bernstein JA, Eichler EE, Vincent JB, Bamshad MJ. De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder. Genet Med. 2020 03; 22(3):538-546. PMID: 31723249; PMCID: PMC7060121.
    Citations: 8     Fields:    Translation:Humans
  14. Tomasi J, Lisoway AJ, Zai CC, Harripaul R, Müller DJ, Zai GCM, McCabe RE, Richter MA, Kennedy JL, Tiwari AK. Towards precision medicine in generalized anxiety disorder: Review of genetics and pharmaco(epi)genetics. J Psychiatr Res. 2019 12; 119:33-47. PMID: 31563039.
    Citations: 7     Fields:    Translation:Humans
  15. Ouyang Q, Kavanaugh BC, Joesch-Cohen L, Dubois B, Wu Q, Schmidt M, Baytas O, Pastore SF, Harripaul R, Mishra S, Hussain A, Kim KH, Holler-Managan YF, Ayub M, Mir A, Vincent JB, Liu JS, Morrow EM. GPT2 mutations in autosomal recessive developmental disability: extending the clinical phenotype and population prevalence estimates. Hum Genet. 2019 Oct; 138(10):1183-1200. PMID: 31471722; PMCID: PMC6748651.
    Citations: 1     Fields:    Translation:HumansCells
  16. Gul H, Shah AH, Harripaul R, Mikhailov A, Prajapati K, Khan E, Ullah F, Zubair M, Ali MZ, Shah AH, Salman S, Khan S, Vincent JB, Khan MA. Genetic studies of multiple consanguineous Pakistani families segregating oculocutaneous albinism identified novel and reported mutations. Ann Hum Genet. 2019 07; 83(4):278-284. PMID: 30868578.
    Citations: 5     Fields:    Translation:Humans
  17. Sriretnakumar V, Harripaul R, Vincent JB, Kennedy JL, So J. Enrichment of pathogenic variants in genes associated with inborn errors of metabolism in psychiatric populations. Am J Med Genet B Neuropsychiatr Genet. 2019 01; 180(1):46-54. PMID: 30556376.
    Citations: 2     Fields:    Translation:Humans
  18. Fattahi Z, Sheikh TI, Musante L, Rasheed M, Taskiran II, Harripaul R, Hu H, Kazeminasab S, Alam MR, Hosseini M, Larti F, Ghaderi Z, Celik A, Ayub M, Ansar M, Haddadi M, Wienker TF, Ropers HH, Kahrizi K, Vincent JB, Najmabadi H. Biallelic missense variants in ZBTB11 can cause intellectual disability in humans. Hum Mol Genet. 2018 09 15; 27(18):3177-3188. PMID: 29893856.
    Citations: 7     Fields:    Translation:HumansAnimalsCells
  19. Sheikh TI, Harripaul R, Ayub M, Vincent JB. MeCP2 AT-Hook1 mutations in patients with intellectual disability and/or schizophrenia disrupt DNA binding and chromatin compaction in vitro. Hum Mutat. 2018 05; 39(5):717-728. PMID: 29431277.
    Citations: 7     Fields:    Translation:HumansAnimalsCells
  20. Sawal HA, Harripaul R, Mikhailov A, Vleuten K, Naeem F, Nasr T, Hassan MJ, Vincent JB, Ayub M, Rafiq MA. Three Mutations in the Bilateral Frontoparietal Polymicrogyria Gene GPR56 in Pakistani Intellectual Disability Families. J Pediatr Genet. 2018 Jun; 7(2):60-66. PMID: 29707406; PMCID: PMC5916802.
    Citations: 3     
  21. Mittal K, Gonçalves VF, Harripaul R, Cuperfain AB, Rollins B, Tiwari AK, Zai CC, Maciukiewicz M, Müller DJ, Vawter MP, Kennedy JL. A comprehensive analysis of mitochondrial genes variants and their association with antipsychotic-induced weight gain. Schizophr Res. 2017 09; 187:67-73. PMID: 28693754; PMCID: PMC5660917.
    Citations: 8     Fields:    Translation:Humans
  22. Harripaul R, Vasli N, Mikhailov A, Rafiq MA, Mittal K, Windpassinger C, Sheikh TI, Noor A, Mahmood H, Downey S, Johnson M, Vleuten K, Bell L, Ilyas M, Khan FS, Khan V, Moradi M, Ayaz M, Naeem F, Heidari A, Ahmed I, Ghadami S, Agha Z, Zeinali S, Qamar R, Mozhdehipanah H, John P, Mir A, Ansar M, French L, Ayub M, Vincent JB. Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families. Mol Psychiatry. 2018 04; 23(4):973-984. PMID: 28397838.
    Citations: 67     Fields:    Translation:Humans
  23. Harripaul R, Noor A, Ayub M, Vincent JB. The Use of Next-Generation Sequencing for Research and Diagnostics for Intellectual Disability. Cold Spring Harb Perspect Med. 2017 Mar 01; 7(3). PMID: 28250017; PMCID: PMC5334248.
    Citations: 22     Fields:    Translation:Humans
  24. Sawal HA, Harripaul R, Mikhailov A, Dad R, Ayub M, Jawad Hassan M, Vincent JB. Biallelic truncating SCN9A mutation identified in four families with congenital insensitivity to pain from Pakistan. Clin Genet. 2016 12; 90(6):563-565. PMID: 27747863.
    Citations: 3     Fields:    Translation:HumansCells
  25. Johansen A, Rosti RO, Musaev D, Sticca E, Harripaul R, Zaki M, Çaglayan AO, Azam M, Sultan T, Froukh T, Reis A, Popp B, Ahmed I, John P, Ayub M, Ben-Omran T, Vincent JB, Gleeson JG, Abou Jamra R. Mutations in MBOAT7, Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features. Am J Hum Genet. 2016 Oct 06; 99(4):912-916. PMID: 27616480; PMCID: PMC5065650.
    Citations: 24     Fields:    Translation:Humans
  26. Mittal K, Rafiq MA, Rafiullah R, Harripaul R, Ali H, Ayaz M, Aslam M, Naeem F, Amin-Ud-Din M, Waqas A, So J, Rappold GA, Vincent JB, Ayub M. Mutations in the genes for thyroglobulin and thyroid peroxidase cause thyroid dyshormonogenesis and autosomal-recessive intellectual disability. J Hum Genet. 2016 Oct; 61(10):867-872. PMID: 27305979.
    Citations: 4     Fields:    Translation:HumansCells
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Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.