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2021

  1. Unusual Behaviors in a 7-year-old Boy
    Chang L, Shao DD, Eichler FS, Srivastava S
    Pediatr Rev. 2021 Jan; 42 (Suppl 1): S122-S125
    [Pubmed] 
  2. Role of Parent-Reported Executive Functioning and Anxiety in Insistence on Sameness in Individuals with Germline PTEN Mutations
    Uljarević M, Frazier T, Rached G, Busch R, Klaas P, Srivastava S , Martinez-Agosto J, Sahin M, Eng C, Hardan A, Developmental Synaptopathies Consortium
    J Autism Dev Disord. 2021 Feb 17
    [Pubmed] 
  3. Rare Deleterious Mutations of HNRNP Genes Result in Shared Neurodevelopmental Disorders
    Gillentine M, Wang T, Hoekzema K, Rosenfeld J, Liu P, Guo H, Kim C, Vries B, Vissers L, 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, Heena PanjwaniH, Torti E, Abid F, Anselm I, Srivastava S , Atwal P, Bacino C, Bhat G, Cobian K, Bird L, Jennifer FriedmanJ, Wright M, Callewaert B, Petit F, Mathieu S, Afenjar A, Christensen C, White K, Elpeleg O, Berger I, Espineli E, Fagerberg C, Andersen C, Hansen L, 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, Borg M, Lauridsen M, Sorensen K, CAUSES Study, Rangel E, Levy P, Lessel D, Lotze T, Khetarpal S, Sebastian J, Vento J, Vats D, Benman L, Mckee S, Mirzaa G, Muss C, Pappas J, Peeters H, Romano C, Elia M, Galesi O, Simon M, Gassen K, Simpson K, Stratton R, Syed S, Thevenon J, Palafoll I, Vitobello A, Bournez M, Faivre L, Xia K, SPARK Consortium, Earl R, Nowakowski T, Bernier R, Eichler E
    Genome Med. 2021 Apr 19; 13 (1): 63
    [Pubmed] 
  4. Clinical, Neuroimaging, and Molecular Spectrum of TECPR2-Associated Hereditary Sensory and Autonomic Neuropathy with Intellectual Disability
    Neuser S, Brechmann B, Heimer G, Brösse I, Schubert S, Grady L, Zech M, Srivastava S , Sweetser D, Dincer Y, Mall V, Winkelmann J, Behrends C, Darras B, Graham R, Jayakar P, Byrne B, El Bar-Aluma B, Haberman Y, Szeinberg A, Aldhalaan H, Hashem M, Tenaiji A, Ismayl O, Nuaimi A, Maher K, Ibrahim S, Khan F, Houlden H, Ramakumaran V, Pagnamenta A, Posey J, Lupski J, Tan W, ElGhazali G, Herman I, Muñoz T, Repetto G, Seitz A, Krumbiegel M, Poli M, Kini U, Efthymiou S, Meiler J, Maroofian R, Alkuraya F, Jamra R, Popp B, Ben-Zeev B, Ebrahimi-Fakhari D.
    Hum Mutat. 2021 Jun; 42 (6): 762-776
    [Pubmed] 
  5. Speech and Language Deficits are Central to SETBP1 Haploinsufficiency Disorder
    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
    Eur J Hum Genet. 2021 Apr 27
    [Pubmed] 
  6. Clinical Delineation of SETBP1 Haploinsufficiency Disorder
    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
    Eur J Hum Genet. 2021 Apr 19
    [Pubmed] 
  7. Severe speech impairment is a distinguishing feature of FOXP1-related disorder
    Braden R, Amor D, Fisher S, Mei C, Myers C, Mefford H, Gill D, Srivastava S , Swanson L, Goel H, Scheffer I, Morgan A
    Dev Med Child Neurol. 2021 Jun 9
    [Pubmed] 
  8. A standard of care for individuals with PIK3CA-related disorders - an international expert consensus statement
    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, Jr JM, Clayton-Smith J, Mirzaa GM, Biesecker LG
    Clin Genet. 2021 Jul 8
    [Pubmed] 
  9. Expansion of the Genotypic and Phenotypic Spectrum of WASF1-Related Neurodevelopmental Disorder
    Srivastava S , Macke E, Swanson L, Coulter D, Klee E, Mullegama S, Xie Y, Lanpher B, Bedoukian E, Skraban C, Villard L, Milh M, Leppert M, Cohen J
    Brain Sci. 2021 Jul 14; 11 (7): 931
    [Pubmed] 
  10. Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications
    Johannesen K, Liu Y, Koko M, Gjerulfsen C, Sonnenberg L, Schubert J, Fenger C, Eltokhi A, Rannap M, Koch N, 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, R Lemke J, Platzer K, Krey I, Heine C, Wieczorek D, Kroell-Seger J, Lund C, Klein K, Au P, Rho J, Ho A, Masnada S, Veggiotti P, Giordano L, Accorsi P, Hoei-Hansen C, Striano P, Zara F, Verhelst H, Verhoeven J, vanderZwaag B, Harder A, Brilstra E, Pendziwiat M, Lebon S, Vaccarezza M, Le N, Christensen J, Grønborg S, W Scherer S, Howe J, Fazeli W, Howell K, Leventer R, Stutterd C, Walsh S, Gerard M, Gerard B, Matricardi S, M Bonardi C, Sartori S, Berger A, Hoffman-Zacharska D, Mastrangelo M, Darra F, Vøllo A, Mahdi Motazacker M, 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, Scott Perry M, Ichikawa S, Dadali E, Sharkov A, Mishina I, Abramov M, Kanivets I, Korostelev S, Kutsev S, Wain K, Eisenhauer N, Wagner M, Savatt J, Müller-Schlüter K, Bassan H, Borovikov A, Cecile Nassogne M, Destrée A, Sofie Schoonjans A, Meuwissen M, Buzatu M, Jansen A, Scalais E, Srivastava S , Hann Tan W, Olson H, Loddenkemper T, Poduri A, Helbig K, Helbig I, Fitzgerald M, Goldberg E, Roser T, Borggraefe I, Brünger T, May P, Lal D, Lederer D, Rubboli G, Heyne H, Lesca G, Hedrich U, Benda J, Gardella E, Lerche H, Møller R
    Brain. 2021 Aug 25
    [Pubmed] 
  11. Psychiatric Characteristics Across Individuals With PTEN Mutations
    Steele M, Uljarević M, Rached G, Frazier TW, Phillips JM, Libove RA, Busch RM, Klaas P, Martinez-Agosto JA, Srivastava S , Eng C, Sahin M, Hardan AY
    Front Psychiatry. 2021; 12 (672070)
    [Pubmed] 
  12. Strong evidence for genotype-phenotype correlations in Phelan-McDermid syndrome - Results from the developmental Synaptopathies consortium
    Levy T, Foss-Feig JH, Betancur C, Siper PM, Pilar Trelles-Thorne M, 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
    Hum Mol Genet. 2021 Sep 24
    [Pubmed] 
  13. Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms
    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 Jr, 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
    Mol Genet Genomic Med. 2021 Oct; 9 (10): e1809
    [Pubmed] 
  14. Quantitative EEG improves prediction of Sturge-Weber syndrome in infants with port-wine birthmark
    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
    Clin Neurophysiol. 2021 Oct; 132 (10): 2440-2446
    [Pubmed] 
  15. Neurodevelopmental profile of HIVEP2-related disorder
    Mo A, Snyder LG, Babington O, Chung WK, Sahin M, Srivastava S
    Dev Med Child Neurol. 2021 Oct 26
    [Pubmed] 
  16. Toward better characterization of restricted and repetitive behaviors in individuals with germline heterozygous PTEN mutations
    Uljarević M, Frazier TW, Rached G, Busch RM, Klaas P, Srivastava S , Martinez-Agosto JA, Sahin M, Eng C, Hardan AY
    Am J Med Genet A. 2021 Nov; 185 (11): 3401-3410
    [Pubmed] 
  17. A recurrent SHANK3 frameshift variant in Autism Spectrum Disorder
    oureiro 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
    NPJ Genom Med. 2021 Nov 4; 6 (1)
    [Pubmed] 
  18. Intracranial venous malformation masquerading as a meningioma in PI3KCA-related overgrowth spectrum disorder
    Filippidis A, Lidov H, Al-Ibraheemi A, See AP, Srivastava S , Orbach DB, Fehnel KP
    Am J Med Genet A. 2021 Dec 2
    [Pubmed] 
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2020

  1. Xq22 Deletions and Correlation with Distinct Neurological Disease Traits in Females / Further Evidence for a Contiguous Gene Syndrome
    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
    Hum Mutat. 2020 Jan; 41 (1): 150-168
    [Pubmed] 
  2. Alexander Disease
    Srivastava S , Waldman A, Naidu S
    GeneReviews. 2020
    [Pubmed] 
  3. Expansion of the Genetic Landscape of ERLIN2-related Disorders
    Srivastava S , D'Amore A, Cohen JS, Swanson LC, Ricca I, Pini A, Fatemi A, Ebrahimi-Fakhari D, Santorelli FM
    Ann Clin Transl Neurol. 2020 Apr; 7 (4): 573-578
    [Pubmed] 
  4. Int22h1/Int22h2-mediated Xq28 Duplication Syndrome - De Novo Duplications, Prenatal Diagnoses, and Additional Phenotypic Features
    Ballout R, Dickerson C, Wick M, Al-Sweel N, Openshaw A, Srivastava S , Swanson L, Bramswig N, Kuechler A, Hong B, Fleming L, Curry K, Robertson S, Andersen E, El-Hattab A
    Hum Mutat. 2020 Jul; 41 (7): 1238-1249
    [Pubmed] 
  5. Diffusion Tensor Imaging Abnormalities in the Uncinate Fasciculus and Inferior Longitudinal Fasciculus in Phelan-McDermid Syndrome
    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
    Pediatr Neurol. 2020 May: 24-31
    [Pubmed] 
  6. Repetitive and Self-injurious Behaviors in Children with Cornelia de Lange Syndrome
    Srivastava S , Clark B, Landy-Schmitt C, Offermann EA, Kline AD, Wilkinson ST, Grados MA
    J Autism Dev Disord. 2020 Aug 18
    [Pubmed] 
  7. The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction
    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
    Genet Med. 2020 Oct 27
    [Pubmed] 
  8. Polymicrogyria is Associated With Pathogenic Variants in PTEN
    Shao DD, Achkar CM, Lai A, Srivastava S , Doan RN, Rodan LH, Chen AY, Poduri A, Yang E, Walsh CA
    Ann Neurol. 2020 Dec; 88 (6): 1153-1164
    [Pubmed] 
  9. Natural History of Thyroid Disease in Children with PTEN Hamartoma Tumor Syndrome
    Smith JR, Liu E, Church AJ, Asch E, Cherella CE, Srivastava S , Kamihara J, Wassner AJ
    J Clin Endocrinol Metab. 2020 Dec
    [Pubmed] 
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2019

  1. ST3GAL5-Related Disorders: A Deficiency in Ganglioside Metabolism and a Genetic Cause of Intellectual Disability and Choreoathetosis
    Gordon-Lipkin E, Cohen JS, Srivastava S , Soares BP, Levey E, Fatemi A
    J Child Neurol. 2018 Nov 1; 33 (13): 825-831
    [Pubmed] 
  2. Volumetric Analysis of the Basal Ganglia and Cerebellar Structures in Patients with Phelan-McDermid Syndrome
    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
    Pediatr Neurol. 2019 Jan 1: 37-43
    [Pubmed] 
  3. Dysregulations of Sonic Hedgehog Signaling in MED12-related X-linked Intellectual Disability Disorders
    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
    Mol Genet Genomic Med. 2019 Feb 6: e569
    [Pubmed] 
  4. Expansion of the Clinical Spectrum Associated with AARS2-related Disorders
    Srivastava S , Butala A, Mahida S, Richter J, Mu W, Poretti A, Vernon H, VanGerpen J, Atwal PS, Middlebrooks EH, Zee DS, Naidu S
    Am J Med Genet A. 2019 Aug; 179 (8): 1556-1564
    [Pubmed] 
  5. EPG5 Variants with Modest Functional Impact Result in an Ameliorated and Primarily Neurological Phenotype in a 3.5-Year-Old Patient with Vici Syndrome
    Kane MS, Zhao J, Muskett J, Diplock A, Srivastava S , Hauser N, Deeken JF, Niederhuber JE, Smith WE, Vilboux T, Ebrahimi-Fakhari D
    Neuropediatrics. 2019 Aug; 50 (4): 257-261
    [Pubmed] 
  6. Metabolic Strokes in Propionic Acidemia, Transient Hemiplegic Events Without Encephalopathy
    Almuqbil M, Chinsky JM, Srivastava S
    Child Neurol Open. 2019: 2329048X19873242
    [Pubmed] 
  7. Neurobehavioral Phenotype of Autism Spectrum Disorder Associated with Germline Heterozygous Mutations in PTEN
    Busch RM*, Srivastava S* , Hogue O, Frazier TW, Klaas P, Hardan A, Martinez-Agosto JA, Sahin M, Eng C * = equal contributors.
    Transl Psychiatry. 2019 Oct 8; 9 (1): 253
    [Pubmed] 
  8. Meta-analysis and Multidisciplinary Consensus Statement / Exome Sequencing is a First-tier Clinical Diagnostic Test for Individuals with Neurodevelopmental Disorders
    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 * = equal contributors.
    Genet Med. 2019 Nov; 21 (11): 2413-2421
    [Pubmed] 
[Top]

2018

  1. Monogenic Disorders that Mimic the Phenotype of Rett Syndrome
    Srivastava S , Desai S, Cohen J, Smith-Hicks C, Barañano K, Fatemi A, Naidu S
    Neurogenetics. 2018 Jan; 19 (1): 41-47
    [Pubmed] 
  2. Cerebellar Volume as an Imaging Marker of Development in Infants with Tuberous Sclerosis Complex
    Srivastava S , Prohl A, Scherrer B, Kapur K, Warfield S, Krueger D, Sahin M
    Neurology. 2018 Apr 24; 90 (17): e1493-e1500
    [Pubmed] 
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2017

  1. Evaluation of QTc in Rett Syndrome: Correlation with Age, Severity, and Genotype
    Crosson J, Srivastava S , Bibat G, Gupta S, Kantipuly A, Smith-Hicks C, Myers S, Sanyal A, Yenokyan G, Brenner J, Naidu S
    Am J Med Genet A. 2017; 173 (6): 1495-1501
    [Pubmed] 
  2. Cornelia de Lange Syndrome and Molecular Implications of the Cohesin Complex: Abstracts from the 7th Biennial Scientific and Educational Symposium 2016
    Kline A, Krantz I, Deardorff M, Shirahige K, Dorsett D, Gerton J, Wu M, Mehta D, Mills J, Carrico C, Noon S, Herrera P, Horsfield J, Bettale C, Morgan J, Huisman S, Moss J, McCleery J, Grados M, Hansen B, Srivastava S , Taylor-Snell E, Kerr L, Katz O, Calof A, Musio A, Egense A, Haaland R
    Am J Med Genet A. 2017 May; 173 (5): 1172-1185
    [Pubmed] 
  3. Behavioral and Psychiatric Manifestations in Cornelia de Lange Syndrome
    Grados M, Alvi M, Srivastava S
    Curr Opin Psychiatry. 2017 Mar; 30 (2): 92-96
    [Pubmed] 
  4. Increased Survival and Partly Preserved Cognition in a Patient With ACO2-Related Disease Secondary to a Novel Variant
    Srivastava S , Gubbels CS, Dies K, Fulton A, Yu T, Sahin M
    J Child Neurol. 2017 Aug; 32 (9): 840-845
    [Pubmed] 
  5. Deficiency of WARS2, Encoding Mitochondrial Tryptophanyl tRNA Synthetase, Causes Severe Infantile Onset Leukoencephalopathy
    Theisen BE, Rumyantseva A, Cohen JS, Alcaraz WA, Shinde DN, Tang S, Srivastava S , Pevsner J, Trifunovic A, Fatemi A
    Am J Med Genet A. 2017 Sep; 173 (9): 2505-2510
    [Pubmed] 
  6. Autism Spectrum Disorder and Epileptic Encephalopathy: Common Causes, Many Questions
    Srivastava S , Sahin M
    J Neurodev Disord. 2017; 9 (23)
    [Pubmed] 
  7. Neurodevelopmental Disorders Caused by De Novo Variants in KCNB1: Genotypes and Phenotypes
    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
    JAMA Neurol. 2017 Oct 1; 74 (10): 1228-1236
    [Pubmed] 
[Top]

2016

  1. Loss-of-function Variants in HIVEP2 are a Cause of Intellectual Disability
    Srivastava S , Engels H, Schanze I, Cremer K, Wieland T, Menzel M, Schubach M, Biskup S, Kreiß M, Endele S, Strom T, Wieczorek D, Zenker M, Gupta S, Cohen J, Zink A, Naidu S
    Eur J Hum Genet. 2016 Apr; 24 (4): 556-61
    [Pubmed] 
  2. BRAT1 Mutations Present with a Spectrum of Clinical Severity
    Srivastava S , Olson H, Cohen J, Gubbels C, Lincoln S, Tippin Davis B, Shahmirzadi L, Gupta S, Picker J, Yu T, Miller D, Soul J, Poretti A, Naidu S
    Am J Med Genet A. 2016 Sep; 170 (9): 2265-73
    [Pubmed] 
  3. Update on Leukodystrophies: A Historical Perspective and Adapted Definition
    Kevelam S, Steenweg M, Srivastava S , Helman G, Naidu S, Schiffmann R, Blaser S, Vanderver A, Wolf N, van der Knaap M
    Neuropediatrics. 2016 Dec; 47 (6): 349-354
    [Pubmed] 
  4. Further Evidence that De Novo Missense and Truncating Variants in ZBTB18 Cause Intellectual Disability with Variable Features
    Cohen J*, Srivastava S* , Hagman K, Shinde D, Huether R, Darcy D, Wallerstein R, Houge G, Berland S, Monaghan K, Poretti A, Wilson A, Chung W, Fatemi A * = equal contributors.
    Clin Genet. 2017 May; 91 (5): 697-707
    [Pubmed] 
  5. Epileptic Encephalopathy Due to BRAT1 Pathogenic Variants
    Srivastava S , Naidu S
    Pediatr Neurol Briefs. 2016 Dec; 30 (12): 45
    [Pubmed] 
[Top]

2015

  1. ELP2 is a Novel Gene Implicated in Neurodevelopmental Disabilities
    Cohen J*, Srivastava S* , Farwell K, Lu H, Zeng W, Lu H, Chao E, Fatemi A * = equal contributors.
    Am J Med Genet A. 2015 Jun; 167 (6): 1391-5
    [Pubmed] 
  2. Clinical, Developmental and Molecular Update on Cornelia de Lange Syndrome and the Cohesin Complex: Abstracts from the 2014 Scientific and Educational Symposium
    Kline A, Calof A, Lander A, Gerton J, Krantz I, Dorsett D, Deardorff M, Blagowidow N, Yokomori K, Shirahige L, Santos R, Woodman1 J, Megee P, O’Connor J, Egense A, Noon S, Belote M, Goodban M, Hansen B, Timmons J, Musio A, Ishman S, Bryan Y, Wu Y, Bettini L, Mehta D, Zakari M, Mills J, Srivastava S , Haaland R
    Am J Med Genet A. 2015 Jun; 167 (6): 1179-92
    [Pubmed] 
[Top]

2014

  1. Autism Traits in Children and Adolescents with Cornelia de Lange Syndrome
    Srivastava S , Landy-Schmitt C, Clark B, Kline A, Specht M, Grados M
    Am J Med Genet A. Jun 2014; 164A (6): 1400-10
    [Pubmed] 
  2. Early Neurodevelopmental Screening in Tuberous Sclerosis Complex: A Potential Window of Opportunity
    Gipson T, Gerner G, Srivastava S , Poretti A, Vaurio R, Hartman A, Johnston M
    Pediatr Neurol. 2014 Sep; 51 (3): 398-402
    [Pubmed] 
  3. Genetic Findings in Obsessive-Compulsive Disorder Connect to Brain-Derived Neurotrophic Factor and Mammalian Target of Rapamycin Pathways: Implications for Drug Development
    Grados M, Sung HM, Kim S, Srivastava S
    Drug Dev Res. 2014 Sep; 75 (6): 372-83
    [Pubmed] 
  4. Clinical Whole Exome Sequencing in Child Neurology Practice
    Srivastava S , Cohen J, Vernon H, Baranano K, McClellan R, Jamal L, Naidu S, Fatemi A
    Ann Neurol. 2014 Oct; 76 (4): 473-83
    [Pubmed] 
  5. A Novel Variant in GABRB2 Associated with Intellectual Disability and Epilepsy
    Srivastava S , Cohen J, Pevsner J, Aradhya S, McKnight D, Butler E, Johnston M, Fatemi A
    Am J Med Genet A. 2014 Nov; 164A (11): 2914-21
    [Pubmed]