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Siddharth Srivastava, M.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. Bainbridge MN, Mazumder A, Ogasawara D, Abou Jamra R, Bernard G, Bertini E, Burglen L, Cope H, Crawford A, Derksen A, Dure L, Gantz E, Koch-Hogrebe M, Hurst ACE, Mahida S, Marshall P, Micalizzi A, Novelli A, Peng H, Rodriguez D, Robbins SL, Rutledge SL, Scalise R, Schließke S, Shashi V, Srivastava S, Thiffault I, Topol S, Qebibo L, Wieczorek D, Cravatt B, Haricharan S, Torkamani A, Friedman J. Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome (NODRS). Brain. 2022 Jun 23. PMID: 35737950.
    Citations:    Fields:    
  2. Srivastava S, Jo B, Zhang B, Frazier T, Gallagher AS, Peck F, Levin AR, Mondal S, Li Z, Filip-Dhima R, Geisel G, Dies KA, Diplock A, Eng C, Hanna R, Sahin M, Hardan A. A randomized controlled trial of Everolimus for neurocognitive symptoms in PTEN hamartoma tumor syndrome. Hum Mol Genet. 2022 May 20. PMID: 35594551.
    Citations:    Fields:    
  3. Kothari C, Srivastava S, Kousa Y, Izem R, Gierdalski M, Kim D, Good A, Dies KA, Geisel G, Morizono H, Gallo V, Pomeroy SL, Garden GA, Guay-Woodford L, Sahin M, Avillach P. Validation of a computational phenotype for finding patients eligible for genetic testing for pathogenic PTEN variants across three centers. J Neurodev Disord. 2022 03 23; 14(1):24. PMID: 35321655; PMCID: PMC8943944.
    Citations:    Fields:    Translation:Humans
  4. Levy T, Foss-Feig JH, Betancur C, Siper PM, Trelles-Thorne MDP, Halpern D, Frank Y, Lozano R, Layton C, Britvan B, Bernstein JA, Buxbaum JD, Berry-Kravis E, Powell CM, Srivastava S, Sahin M, Soorya L, Thurm A, Kolevzon A. Strong evidence for genotype-phenotype correlations in Phelan-McDermid syndrome: results from the developmental synaptopathies consortium. Hum Mol Genet. 2022 02 21; 31(4):625-637. PMID: 34559195; PMCID: PMC8863417.
    Citations: 2     Fields:    Translation:HumansCells
  5. Lines MA, Goldenberg P, Wong A, Srivastava S, Bayat A, Hove H, Karstensen HG, Anyane-Yeboa K, Liao J, Jiang N, May A, Guzman E, Morleo M, D'Arrigo S, Ciaccio C, Pantaleoni C, Castello R, McKee S, Ong J, Zibdeh-Lough H, Tran-Mau-Them F, Gerasimenko A, Heron D, Keren B, Margot H, de Sainte Agathe JM, Burglen L, Voets T, Vriens J, Innes AM, Dyment DA. Phenotypic spectrum of the recurrent TRPM3 p.(Val837Met) substitution in seven individuals with global developmental delay and hypotonia. Am J Med Genet A. 2022 06; 188(6):1667-1675. PMID: 35146895.
    Citations:    Fields:    Translation:Humans
  6. Dohrn MF, Rebelo AP, Srivastava S, Cappuccio G, Smigiel R, Malhotra A, Basel D, van de Laar I, Neuteboom RF, Aarts-Tesselaar C, Mahida S, Brunetti-Pierri N, Taft RJ, Züchner S. De Novo ATP1A1 Variants in an Early-Onset Complex Neurodevelopmental Syndrome. Neurology. 2022 03 15; 98(11):440-445. PMID: 35110381; PMCID: PMC8935442.
    Citations:    Fields:    Translation:Humans
  7. Chopra M, Gable DL, Love-Nichols J, Tsao A, Rockowitz S, Sliz P, Barkoudah E, Bastianelli L, Coulter D, Davidson E, DeGusmao C, Fogelman D, Huth K, Marshall P, Nimec D, Sanders JS, Shore BJ, Snyder B, Stone SSD, Ubeda A, Watkins C, Berde C, Bolton J, Brownstein C, Costigan M, Ebrahimi-Fakhari D, Lai A, O'Donnell-Luria A, Paciorkowski AR, Pinto A, Pugh J, Rodan L, Roe E, Swanson L, Zhang B, Kruer MC, Sahin M, Poduri A, Srivastava S. Mendelian etiologies identified with whole exome sequencing in cerebral palsy. Ann Clin Transl Neurol. 2022 02; 9(2):193-205. PMID: 35076175; PMCID: PMC8862420.
    Citations:    Fields:    Translation:Humans
  8. Filippidis A, Lidov H, Al-Ibraheemi A, See AP, Srivastava S, Orbach DB, Fehnel KP. Intracranial venous malformation masquerading as a meningioma in PI3KCA-related overgrowth spectrum disorder. Am J Med Genet A. 2022 03; 188(3):907-910. PMID: 34854542.
    Citations: 1     Fields:    Translation:HumansAnimals
  9. Srivastava S, Condy E, Carmody E, Filip-Dhima R, Kapur K, Bernstein JA, Berry-Kravis E, Powell CM, Soorya L, Thurm A, Buxbaum JD, Sahin M, Kolevzon AL. Parent-reported measure of repetitive behavior in Phelan-McDermid syndrome. J Neurodev Disord. 2021 11 05; 13(1):53. PMID: 34740315; PMCID: PMC8570010.
    Citations: 1     Fields:    Translation:HumansCells
  10. Loureiro LO, Howe JL, Reuter MS, Iaboni A, Calli K, Roshandel D, Pritišanac I, Moses A, Forman-Kay JD, Trost B, Zarrei M, Rennie O, Lau LYS, Marshall CR, Srivastava S, Godlewski B, Buttermore ED, Sahin M, Hartley D, Frazier T, Vorstman J, Georgiades S, Lewis SME, Szatmari P, Bradley CAL, Tabet AC, Willems M, Lumbroso S, Piton A, Lespinasse J, Delorme R, Bourgeron T, Anagnostou E, Scherer SW. A recurrent SHANK3 frameshift variant in Autism Spectrum Disorder. NPJ Genom Med. 2021 Nov 04; 6(1):91. PMID: 34737294; PMCID: PMC8568906.
    Citations: 1     
  11. Mo A, Snyder LG, Babington O, Chung WK, Sahin M, Srivastava S. Neurodevelopmental profile of HIVEP2-related disorder. Dev Med Child Neurol. 2022 05; 64(5):654-661. PMID: 34704275; PMCID: PMC8986546.
    Citations:    Fields:    Translation:Humans
  12. Yabumoto M, Kianmahd J, Singh M, Palafox MF, Wei A, Elliott K, Goodloe DH, Dean SJ, Gooch C, Murray BK, Swartz E, Schrier Vergano SA, Towne MC, Nugent K, Roeder ER, Kresge C, Pletcher BA, Grand K, Graham JM, Gates R, Gomez-Ospina N, Ramanathan S, Clark RD, Glaser K, Benke PJ, Cohen JS, Fatemi A, Mu W, Baranano KW, Madden JA, Gubbels CS, Yu TW, Agrawal PB, Chambers MK, Phornphutkul C, Pugh JA, Tauber KA, Azova S, Smith JR, O'Donnell-Luria A, Medsker H, Srivastava S, Krakow D, Schweitzer DN, Arboleda VA. Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms. Mol Genet Genomic Med. 2021 10; 9(10):e1809. PMID: 34519438; PMCID: PMC8580094.
    Citations: 1     Fields:    Translation:Humans
  13. Johannesen KM, Liu Y, Koko M, Gjerulfsen CE, Sonnenberg L, Schubert J, Fenger CD, Eltokhi A, Rannap M, Koch NA, Lauxmann S, Krüger J, Kegele J, Canafoglia L, Franceschetti S, Mayer T, Rebstock J, Zacher P, Ruf S, Alber M, Sterbova K, Lassuthová P, Vlckova M, Lemke JR, Platzer K, Krey I, Heine C, Wieczorek D, Kroell-Seger J, Lund C, Klein KM, Billie Au PY, Rho JM, Ho AW, Masnada S, Veggiotti P, Giordano L, Accorsi P, Hoei-Hansen CE, Striano P, Zara F, Verhelst H, Verhoeven JS, van der Zwaag B, Harder AVE, Brilstra E, Pendziwiat M, Lebon S, Vaccarezza M, Minh Le N, Christensen J, Grønborg S, Scherer SW, Howe J, Fazeli W, Howell KB, Leventer R, Stutterd C, Walsh S, Gerard M, Gerard B, Matricardi S, Bonardi CM, Sartori S, Berger A, Hoffman-Zacharska D, Mastrangelo M, Darra F, Vøllo A, Motazacker MM, Lakeman P, Nizon M, Betzler C, Altuzarra C, Caume R, Roubertie A, Gélisse P, Marini C, Guerrini R, Bilan F, Tibussek D, Koch-Hogrebe M, Perry MS, Ichikawa S, Dadali E, Sharkov A, Mishina I, Abramov M, Kanivets I, Korostelev S, Kutsev S, Wain KE, Eisenhauer N, Wagner M, Savatt JM, Müller-Schlüter K, Bassan H, Borovikov A, Nassogne MC, Destrée A, Schoonjans AS, Meuwissen M, Buzatu M, Jansen A, Scalais E, Srivastava S, Tan WH, Olson HE, Loddenkemper T, Poduri A, Helbig KL, Helbig I, Fitzgerald MP, Goldberg EM, Roser T, Borggraefe I, Brünger T, May P, Lal D, Lederer D, Rubboli G, Heyne HO, Lesca G, Hedrich UBS, Benda J, Gardella E, Lerche H, Møller RS. Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications. Brain. 2021 Aug 25. PMID: 34431999.
    Citations: 4     Fields:    
  14. Uljarevic M, Frazier TW, Rached G, Busch RM, Klaas P, Srivastava S, Martinez-Agosto JA, Sahin M, Eng C, Hardan AY. Toward better characterization of restricted and repetitive behaviors in individuals with germline heterozygous PTEN mutations. Am J Med Genet A. 2021 11; 185(11):3401-3410. PMID: 34423884; PMCID: PMC8530948.
    Citations:    Fields:    Translation:Humans
  15. Gill RE, Tang B, Smegal L, Adamek JH, McAuliffe D, Lakshmanan BM, Srivastava S, Quain AM, Sebold AJ, Lin DDM, Kossoff EH, Caffo B, Comi AM, Ewen JB. Quantitative EEG improves prediction of Sturge-Weber syndrome in infants with port-wine birthmark. Clin Neurophysiol. 2021 10; 132(10):2440-2446. PMID: 34454271.
    Citations:    Fields:    Translation:Humans
  16. Douzgou S, Rawson M, Baselga E, Danielpour M, Faivre L, Kashanian A, Keppler-Noreuil KM, Kuentz P, Mancini GMS, Maniere MC, Martinez-Glez V, Parker VE, Semple RK, Srivastava S, Vabres P, De Wit MY, Graham JM, Clayton-Smith J, Mirzaa GM, Biesecker LG. A standard of care for individuals with PIK3CA-related disorders: An international expert consensus statement. Clin Genet. 2022 01; 101(1):32-47. PMID: 34240408; PMCID: PMC8664971.
    Citations: 3     Fields:    Translation:Humans
  17. Srivastava S, Macke EL, Swanson LC, Coulter D, Klee EW, Mullegama SV, Xie Y, Lanpher BC, Bedoukian EC, Skraban CM, Villard L, Milh M, Leppert MLO, Cohen JS. Expansion of the Genotypic and Phenotypic Spectrum of WASF1-Related Neurodevelopmental Disorder. Brain Sci. 2021 Jul 14; 11(7). PMID: 34356165; PMCID: PMC8307306.
    Citations:    
  18. Braden RO, Amor DJ, Fisher SE, Mei C, Myers CT, Mefford H, Gill D, Srivastava S, Swanson LC, Goel H, Scheffer IE, Morgan AT. Severe speech impairment is a distinguishing feature of FOXP1-related disorder. Dev Med Child Neurol. 2021 12; 63(12):1417-1426. PMID: 34109629.
    Citations: 2     Fields:    Translation:Humans
  19. Neuser S, Brechmann B, Heimer G, Brösse I, Schubert S, O'Grady L, Zech M, Srivastava S, Sweetser DA, Dincer Y, Mall V, Winkelmann J, Behrends C, Darras BT, Graham RJ, Jayakar P, Byrne B, Bar-Aluma BE, Haberman Y, Szeinberg A, Aldhalaan HM, Hashem M, Al Tenaiji A, Ismayl O, Al Nuaimi AE, Maher K, Ibrahim S, Khan F, Houlden H, Ramakumaran VS, Pagnamenta AT, Posey JE, Lupski JR, Tan WH, ElGhazali G, Herman I, Muñoz T, Repetto GM, Seitz A, Krumbiegel M, Poli MC, Kini U, Efthymiou S, Meiler J, Maroofian R, Alkuraya FS, Abou Jamra R, Popp B, Ben-Zeev B, Ebrahimi-Fakhari D. Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability. Hum Mutat. 2021 06; 42(6):762-776. PMID: 33847017.
    Citations: 6     Fields:    Translation:HumansCells
  20. Srivastava S, Clark B, Landy-Schmitt C, Offermann EA, Kline AD, Wilkinson ST, Grados MA. Repetitive and Self-injurious Behaviors in Children with Cornelia de Lange Syndrome. J Autism Dev Disord. 2021 May; 51(5):1748-1758. PMID: 32809170.
    Citations: 1     Fields:    Translation:Humans
  21. Morgan A, Braden R, Wong MMK, Colin E, Amor D, Liégeois F, Srivastava S, Vogel A, Bizaoui V, Ranguin K, Fisher SE, van Bon BW. Speech and language deficits are central to SETBP1 haploinsufficiency disorder. Eur J Hum Genet. 2021 08; 29(8):1216-1225. PMID: 33907317; PMCID: PMC8384874.
    Citations: 5     Fields:    Translation:Humans
  22. Jansen NA, Braden RO, Srivastava S, Otness EF, Lesca G, Rossi M, Nizon M, Bernier RA, Quelin C, van Haeringen A, Kleefstra T, Wong MMK, Whalen S, Fisher SE, Morgan AT, van Bon BW. Clinical delineation of SETBP1 haploinsufficiency disorder. Eur J Hum Genet. 2021 08; 29(8):1198-1205. PMID: 33867525; PMCID: PMC8385049.
    Citations: 3     Fields:    Translation:Humans
  23. Gillentine MA, Wang T, Hoekzema K, Rosenfeld J, Liu P, Guo H, Kim CN, De Vries BBA, Vissers LELM, Nordenskjold M, Kvarnung M, Lindstrand A, Nordgren A, Gecz J, Iascone M, Cereda A, Scatigno A, Maitz S, Zanni G, Bertini E, Zweier C, Schuhmann S, Wiesener A, Pepper M, Panjwani H, Torti E, Abid F, Anselm I, Srivastava S, Atwal P, Bacino CA, Bhat G, Cobian K, Bird LM, Friedman J, Wright MS, Callewaert B, Petit F, Mathieu S, Afenjar A, Christensen CK, White KM, Elpeleg O, Berger I, Espineli EJ, Fagerberg C, Brasch-Andersen C, Hansen LK, Feyma T, Hughes S, Thiffault I, Sullivan B, Yan S, Keller K, Keren B, Mignot C, Kooy F, Meuwissen M, Basinger A, Kukolich M, Philips M, Ortega L, Drummond-Borg M, Lauridsen M, Sorensen K, Lehman A, Lopez-Rangel E, Levy P, Lessel D, Lotze T, Madan-Khetarpal S, Sebastian J, Vento J, Vats D, Benman LM, Mckee S, Mirzaa GM, Muss C, Pappas J, Peeters H, Romano C, Elia M, Galesi O, Simon MEH, van Gassen KLI, Simpson K, Stratton R, Syed S, Thevenon J, Palafoll IV, Vitobello A, Bournez M, Faivre L, Xia K, Earl RK, Nowakowski T, Bernier RA, Eichler EE. Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders. Genome Med. 2021 04 19; 13(1):63. PMID: 33874999; PMCID: PMC8056596.
    Citations: 5     Fields:    Translation:HumansCells
  24. Smith JR, Liu E, Church AJ, Asch E, Cherella CE, Srivastava S, Kamihara J, Wassner AJ. Natural History of Thyroid Disease in Children with PTEN Hamartoma Tumor Syndrome. J Clin Endocrinol Metab. 2021 03 08; 106(3):e1121-e1130. PMID: 33347563.
    Citations: 3     Fields:    Translation:Humans
  25. Uljarevic M, Frazier TW, Rached G, Busch RM, Klaas P, Srivastava S, Martinez-Agosto JA, Sahin M, Eng C, Hardan AY. Brief Report: Role of Parent-Reported Executive Functioning and Anxiety in Insistence on Sameness in Individuals with Germline PTEN Mutations. J Autism Dev Disord. 2022 Jan; 52(1):414-422. PMID: 33595755; PMCID: PMC8479547.
    Citations: 1     Fields:    Translation:HumansCells
  26. Chang L, Shao DD, Eichler FS, Srivastava S. Unusual Behaviors in a 7-year-old Boy. Pediatr Rev. 2021 01; 42(Suppl 1):S122-S125. PMID: 33386381.
    Citations:    Fields:    Translation:Humans
  27. Lenaerts L, Reynhout S, Verbinnen I, Laumonnier F, Toutain A, Bonnet-Brilhault F, Hoorne Y, Joss S, Chassevent AK, Smith-Hicks C, Loeys B, Joset P, Steindl K, Rauch A, Mehta SG, Chung WK, Devriendt K, Holder SE, Jewett T, Baldwin LM, Wilson WG, Towner S, Srivastava S, Johnson HF, Daumer-Haas C, Baethmann M, Ruiz A, Gabau E, Jain V, Varghese V, Al-Beshri A, Fulton S, Wechsberg O, Orenstein N, Prescott K, Childs AM, Faivre L, Moutton S, Sullivan JA, Shashi V, Koudijs SM, Heijligers M, Kivuva E, McTague A, Male A, van Ierland Y, Plecko B, Maystadt I, Hamid R, Hannig VL, Houge G, Janssens V. The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction. Genet Med. 2021 02; 23(2):352-362. PMID: 33106617; PMCID: PMC7862067.
    Citations: 5     Fields:    Translation:Humans
  28. Shao DD, Achkar CM, Lai A, Srivastava S, Doan RN, Rodan LH, Chen AY, Poduri A, Yang E, Walsh CA. Polymicrogyria is Associated With Pathogenic Variants in PTEN. Ann Neurol. 2020 12; 88(6):1153-1164. PMID: 32959437; PMCID: PMC7877488.
    Citations: 1     Fields:    Translation:Humans
  29. Ballout RA, Dickerson C, Wick MJ, Al-Sweel N, Openshaw AS, Srivastava S, Swanson LC, Bramswig NC, Kuechler A, Hong B, Fleming LR, Curry K, Robertson SP, Andersen EF, El-Hattab AW. Int22h1/Int22h2-mediated Xq28 duplication syndrome: de novo duplications, prenatal diagnoses, and additional phenotypic features. Hum Mutat. 2020 07; 41(7):1238-1249. PMID: 32112660.
    Citations: 2     Fields:    Translation:Humans
  30. Srivastava S, D'Amore A, Cohen JS, Swanson LC, Ricca I, Pini A, Fatemi A, Ebrahimi-Fakhari D, Santorelli FM. Expansion of the genetic landscape of ERLIN2-related disorders. Ann Clin Transl Neurol. 2020 04; 7(4):573-578. PMID: 32147972.
    Citations: 3     Fields:    Translation:Humans
  31. Bassell J, Srivastava S, Prohl AK, Scherrer B, Kapur K, Filip-Dhima R, Berry-Kravis E, Soorya L, Thurm A, Powell CM, Bernstein JA, Buxbaum JD, Kolevzon A, Warfield SK, Sahin M. Diffusion Tensor Imaging Abnormalities in the Uncinate Fasciculus and Inferior Longitudinal Fasciculus in Phelan-McDermid Syndrome. Pediatr Neurol. 2020 05; 106:24-31. PMID: 32107139.
    Citations: 4     Fields:    Translation:HumansCellsCTClinical Trials
  32. Hijazi H, Coelho FS, Gonzaga-Jauregui C, Bernardini L, Mar SS, Manning MA, Hanson-Kahn A, Naidu S, Srivastava S, Lee JA, Jones JR, Friez MJ, Alberico T, Torres B, Fang P, Cheung SW, Song X, Davis-Williams A, Jornlin C, Wight PA, Patyal P, Taube J, Poretti A, Inoue K, Zhang F, Pehlivan D, Carvalho CMB, Hobson GM, Lupski JR. Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome. Hum Mutat. 2020 01; 41(1):150-168. PMID: 31448840.
    Citations: 3     Fields:    Translation:HumansCells
  33. Busch RM, Srivastava S, Hogue O, Frazier TW, Klaas P, Hardan A, Martinez-Agosto JA, Sahin M, Eng C. Neurobehavioral phenotype of autism spectrum disorder associated with germline heterozygous mutations in PTEN. Transl Psychiatry. 2019 10 08; 9(1):253. PMID: 31594918.
    Citations: 21     Fields:    Translation:Humans
  34. Almuqbil M, Chinsky JM, Srivastava S. Metabolic Strokes in Propionic Acidemia: Transient Hemiplegic Events Without Encephalopathy. Child Neurol Open. 2019; 6:2329048X19873242. PMID: 31523698; PMCID: PMC6727095.
    Citations: 2     
  35. Kane MS, Zhao J, Muskett J, Diplock A, Srivastava S, Hauser N, Deeken JF, Niederhuber JE, Smith WE, Vilboux T, Ebrahimi-Fakhari D. EPG5 Variants with Modest Functional Impact Result in an Ameliorated and Primarily Neurological Phenotype in a 3.5-Year-Old Patient with Vici Syndrome. Neuropediatrics. 2019 08; 50(4):257-261. PMID: 31226715.
    Citations: 1     Fields:    Translation:Humans
  36. Srivastava S, Love-Nichols JA, Dies KA, Ledbetter DH, Martin CL, Chung WK, Firth HV, Frazier T, Hansen RL, Prock L, Brunner H, Hoang N, Scherer SW, Sahin M, Miller DT. Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders. Genet Med. 2019 11; 21(11):2413-2421. PMID: 31182824; PMCID: PMC6831729.
    Citations: 98     Fields:    Translation:Humans
  37. Srivastava S, Butala A, Mahida S, Richter J, Mu W, Poretti A, Vernon H, VanGerpen J, Atwal PS, Middlebrooks EH, Zee DS, Naidu S. Expansion of the clinical spectrum associated with AARS2-related disorders. Am J Med Genet A. 2019 08; 179(8):1556-1564. PMID: 31099476.
    Citations: 12     Fields:    Translation:Humans
  38. Srivastava S, Niranjan T, May MM, Tarpey P, Allen W, Hackett A, Jouk PS, Raymond L, Briault S, Skinner C, Toutain A, Gecz J, Heath W, Stevenson RE, Schwartz CE, Wang T. Dysregulations of sonic hedgehog signaling in MED12-related X-linked intellectual disability disorders. Mol Genet Genomic Med. 2019 04; 7(4):e00569. PMID: 30729724.
    Citations: 6     Fields:    Translation:HumansCells
  39. Srivastava S, Scherrer B, Prohl AK, Filip-Dhima R, Kapur K, Kolevzon A, Buxbaum JD, Berry-Kravis E, Soorya L, Thurm A, Powell CM, Bernstein JA, Warfield SK, Sahin M. Volumetric Analysis of the Basal Ganglia and Cerebellar Structures in Patients with Phelan-McDermid Syndrome. Pediatr Neurol. 2019 01; 90:37-43. PMID: 30396833; PMCID: PMC6309632.
    Citations: 8     Fields:    Translation:HumansCells
  40. Gordon-Lipkin E, Cohen JS, Srivastava S, Soares BP, Levey E, Fatemi A. ST3GAL5-Related Disorders: A Deficiency in Ganglioside Metabolism and a Genetic Cause of Intellectual Disability and Choreoathetosis. J Child Neurol. 2018 11; 33(13):825-831. PMID: 30185102; PMCID: PMC6188822.
    Citations: 5     Fields:    Translation:Humans
  41. Srivastava S, Prohl AK, Scherrer B, Kapur K, Krueger DA, Warfield SK, Sahin M. Cerebellar volume as an imaging marker of development in infants with tuberous sclerosis complex. Neurology. 2018 04 24; 90(17):e1493-e1500. PMID: 29572283.
    Citations: 4     Fields:    Translation:Humans
  42. Srivastava S, Desai S, Cohen J, Smith-Hicks C, Barañano K, Fatemi A, Naidu S. Monogenic disorders that mimic the phenotype of Rett syndrome. Neurogenetics. 2018 01; 19(1):41-47. PMID: 29322350.
    Citations: 14     Fields:    Translation:Humans
  43. de Kovel CGF, Syrbe S, Brilstra EH, Verbeek N, Kerr B, Dubbs H, Bayat A, Desai S, Naidu S, Srivastava S, Cagaylan H, Yis U, Saunders C, Rook M, Plugge S, Muhle H, Afawi Z, Klein KM, Jayaraman V, Rajagopalan R, Goldberg E, Marsh E, Kessler S, Bergqvist C, Conlin LK, Krok BL, Thiffault I, Pendziwiat M, Helbig I, Polster T, Borggraefe I, Lemke JR, van den Boogaardt MJ, Møller RS, Koeleman BPC. Neurodevelopmental Disorders Caused by De Novo Variants in KCNB1 Genotypes and Phenotypes. JAMA Neurol. 2017 10 01; 74(10):1228-1236. PMID: 28806457; PMCID: PMC5710242.
    Citations: 24     Fields:    Translation:Humans
  44. Theisen BE, Rumyantseva A, Cohen JS, Alcaraz WA, Shinde DN, Tang S, Srivastava S, Pevsner J, Trifunovic A, Fatemi A. Deficiency of WARS2, encoding mitochondrial tryptophanyl tRNA synthetase, causes severe infantile onset leukoencephalopathy. Am J Med Genet A. 2017 Sep; 173(9):2505-2510. PMID: 28650581.
    Citations: 15     Fields:    Translation:HumansCells
  45. Srivastava S, Sahin M. Autism spectrum disorder and epileptic encephalopathy: common causes, many questions. J Neurodev Disord. 2017; 9:23. PMID: 28649286.
    Citations: 15     Fields:    
  46. Srivastava S, Gubbels CS, Dies K, Fulton A, Yu T, Sahin M. Increased Survival and Partly Preserved Cognition in a Patient With ACO2-Related Disease Secondary to a Novel Variant. J Child Neurol. 2017 08; 32(9):840-845. PMID: 28545339; PMCID: PMC5515684.
    Citations: 12     Fields:    Translation:Humans
  47. Crosson J, Srivastava S, Bibat GM, Gupta S, Kantipuly A, Smith-Hicks C, Myers SM, Sanyal A, Yenokyan G, Brenner J, Naidu SR. Evaluation of QTc in Rett syndrome: Correlation with age, severity, and genotype. Am J Med Genet A. 2017 Jun; 173(6):1495-1501. PMID: 28394409; PMCID: PMC5444992.
    Citations: 11     Fields:    Translation:Humans
  48. Grados MA, Alvi MH, Srivastava S. Behavioral and psychiatric manifestations in Cornelia de Lange syndrome. Curr Opin Psychiatry. 2017 Mar; 30(2):92-96. PMID: 28125439.
    Citations: 6     Fields:    Translation:Humans
  49. Kline AD, Krantz ID, Deardorff MA, Shirahige K, Dorsett D, Gerton JL, Wu M, Mehta D, Mills JA, Carrico CS, Noon S, Herrera PS, Horsfield JA, Bettale C, Morgan J, Huisman SA, Moss J, McCleery J, Grados M, Hansen BD, Srivastava S, Taylor-Snell E, Kerr LM, Katz O, Calof AL, Musio A, Egense A, Haaland RE. Cornelia de Lange syndrome and molecular implications of the cohesin complex: Abstracts from the 7th biennial scientific and educational symposium 2016. Am J Med Genet A. 2017 May; 173(5):1172-1185. PMID: 28190301; PMCID: PMC5758041.
    Citations: 7     Fields:    Translation:Humans
  50. Srivastava S, Naidu S. Epileptic Encephalopathy Due to BRAT1 Pathogenic Variants. Pediatr Neurol Briefs. 2016 Dec; 30(12):45. PMID: 27956813; PMCID: PMC5133044.
    Citations:    
  51. Cohen JS, Srivastava S, Farwell Hagman KD, Shinde DN, Huether R, Darcy D, Wallerstein R, Houge G, Berland S, Monaghan KG, Poretti A, Wilson AL, Chung WK, Fatemi A. Further evidence that de novo missense and truncating variants in ZBTB18 cause intellectual disability with variable features. Clin Genet. 2017 May; 91(5):697-707. PMID: 27598823.
    Citations: 8     Fields:    Translation:HumansCells
  52. Kevelam SH, Steenweg ME, Srivastava S, Helman G, Naidu S, Schiffmann R, Blaser S, Vanderver A, Wolf NI, van der Knaap MS. Update on Leukodystrophies: A Historical Perspective and Adapted Definition. Neuropediatrics. 2016 Dec; 47(6):349-354. PMID: 27564080.
    Citations: 33     Fields:    Translation:Humans
  53. Srivastava S, Olson HE, Cohen JS, Gubbels CS, Lincoln S, Davis BT, Shahmirzadi L, Gupta S, Picker J, Yu TW, Miller DT, Soul JS, Poretti A, Naidu S. BRAT1 mutations present with a spectrum of clinical severity. Am J Med Genet A. 2016 09; 170(9):2265-73. PMID: 27282546; PMCID: PMC5532882.
    Citations: 11     Fields:    Translation:Humans
  54. Singh J, Sharma BC, Maharshi S, Puri V, Srivastava S. Spectral electroencephalogram in liver cirrhosis with minimal hepatic encephalopathy before and after lactulose therapy. J Gastroenterol Hepatol. 2016 Jun; 31(6):1203-9. PMID: 26716736.
    Citations: 4     Fields:    Translation:Humans
  55. Srivastava S, Vishnubhatla S, Prakash S, Sharma H, Thakur B, Acharya SK. Randomized Controlled Trial Comparing the Efficacy of Terlipressin and Albumin with a Combination of Concurrent Dopamine, Furosemide, and Albumin in Hepatorenal Syndrome. J Clin Exp Hepatol. 2015 Dec; 5(4):276-85. PMID: 26900268; PMCID: PMC4723649.
    Citations: 19     
  56. Srivastava S, Engels H, Schanze I, Cremer K, Wieland T, Menzel M, Schubach M, Biskup S, Kreiß M, Endele S, Strom TM, Wieczorek D, Zenker M, Gupta S, Cohen J, Zink AM, Naidu S. Loss-of-function variants in HIVEP2 are a cause of intellectual disability. Eur J Hum Genet. 2016 Apr; 24(4):556-61. PMID: 26153216; PMCID: PMC4929870.
    Citations: 14     Fields:    Translation:Humans
  57. Kline AD, Calof AL, Lander AD, Gerton JL, Krantz ID, Dorsett D, Deardorff MA, Blagowidow N, Yokomori K, Shirahige K, Santos R, Woodman J, Megee PC, O'Connor JT, Egense A, Noon S, Belote M, Goodban MT, Hansen BD, Timmons JG, Musio A, Ishman SL, Bryan Y, Wu Y, Bettini LR, Mehta D, Zakari M, Mills JA, Srivastava S, Haaland RE. Clinical, developmental and molecular update on Cornelia de Lange syndrome and the cohesin complex: abstracts from the 2014 Scientific and Educational Symposium. Am J Med Genet A. 2015 Jun; 167(6):1179-92. PMID: 25899772.
    Citations: 1     Fields:    Translation:HumansAnimalsCells
  58. Cohen JS, Srivastava S, Farwell KD, Lu HM, Zeng W, Lu H, Chao EC, Fatemi A. ELP2 is a novel gene implicated in neurodevelopmental disabilities. Am J Med Genet A. 2015 Jun; 167(6):1391-5. PMID: 25847581.
    Citations: 39     Fields:    Translation:HumansCells
  59. Grados M, Sung HM, Kim S, Srivastava S. Genetic findings in obsessive-compulsive disorder connect to brain-derived neutrophic factor and mammalian target of rapamycin pathways: implications for drug development. Drug Dev Res. 2014 Sep; 75(6):372-83. PMID: 25195581.
    Citations: 3     Fields:    Translation:HumansAnimalsCells
  60. Srivastava S, Cohen JS, Vernon H, Barañano K, McClellan R, Jamal L, Naidu S, Fatemi A. Clinical whole exome sequencing in child neurology practice. Ann Neurol. 2014 Oct; 76(4):473-83. PMID: 25131622.
    Citations: 105     Fields:    Translation:Humans
  61. Srivastava S, Cohen J, Pevsner J, Aradhya S, McKnight D, Butler E, Johnston M, Fatemi A. A novel variant in GABRB2 associated with intellectual disability and epilepsy. Am J Med Genet A. 2014 Nov; 164A(11):2914-21. PMID: 25124326.
    Citations: 27     Fields:    Translation:HumansCells
  62. Gipson TT, Gerner G, Srivastava S, Poretti A, Vaurio R, Hartman A, Johnston MV. Early neurodevelopmental screening in tuberous sclerosis complex: a potential window of opportunity. Pediatr Neurol. 2014 Sep; 51(3):398-402. PMID: 25160545.
    Citations: 3     Fields:    Translation:HumansPHPublic Health
  63. Srivastava S, Landy-Schmitt C, Clark B, Kline AD, Specht M, Grados MA. Autism traits in children and adolescents with Cornelia de Lange syndrome. Am J Med Genet A. 2014 Jun; 164A(6):1400-10. PMID: 24718998.
    Citations: 12     Fields:    Translation:Humans
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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.