Select Publications

Establishment of novel genetic causes of ID and CP

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. 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] 
3. SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia
   Srivastava S , Shaked H, Gable K, Gupta S, Pan X, Somashekarappa N, Han G, Mohassel P, Gotkine M, Doney E, Goldenberg P, Tan Q, Gong Y, Kleinstiver B, Wishart B, Cope H, Pires C, Stutzman H, Spillmann R, Undiagnosed Disease Network, Sadjadi R, Elpeleg O, Lee C, Bellen H, Edvardson S, Eichler F, Dunn T
   Brain. 2023 Jan 30
   [Pubmed] 

Characterization of specific neurodevelopmental deficits in genetic NDDs

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. 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] 
3. 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] 
4. Parent-Reported Measure of Repetitive Behavior in Phelan-McDermid Syndrome
   Srivastava S* , Condy E*, Carmody E, Dhima R, Kapur K, Bernstein J, Kravis E, Powell C, Soorya L, Thurm A, Buxbaum J, Sahin M, Kolevzon A. * = equal contributors.
   J Neurodev Disord. 2021 Nov 5; 13 (1): 53
   [Pubmed] 
5. Clinical, genetic, and cognitive correlates of seizure occurrences in Phelan-McDermid syndrome
   Levy T, Gluckman J, Siper PM, Halpern D, Zweifach J, Filip-Dhima R, Holder, Jr JL, Trelles MP, Johnson K, Bernstein JA, Berry-Kravis E, Powell CM, Soorya LV, Thurm A, Buxbaum JD, Sahin M, Kolevzon A, Srivastava S , Developmental Synaptopathies Consortium
   Journal of neurodevelopmental disorders. May 2024.; 16 (1): 25
   [Pubmed] 

Delineation of advanced neuroimaging biomarkers for genetic NDDs

1. 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] 
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. 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] 
4. Abnormality of Early White Matter Development in Tuberous Sclerosis Complex and Autism Spectrum Disorder: Longitudinal Analysis of Diffusion Tensor Imaging Measures
   Srivastava S , Yang F, Prohl AK, Davis P, Capal JK, Filip-Dhima R, Bebin EM, Krueger DA, Northrup H, Wu J, Warfield SK, Sahin M, Zhang B, TACERN Study Group
   Journal of child neurology. May 2024.; 39 (5-6): 178-189
   [Pubmed] 

Development of targeted therapeutics for genetic NDDs

1. A Randomized Controlled Trial of Everolimus for Neurocognitive Symptoms in PTEN Hamartoma Tumor Syndrome.
   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 * = equal contributors.
   Hum Mol Genet. 2022 May 20
   [Pubmed] 

Clinical management guidelines for genetic NDDs

1. Alexander Disease
   Srivastava S , Waldman A, Naidu S
   GeneReviews. 2020
   [Pubmed] 
2. 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] 
3. SETBP1 Haploinsufficiency Disorder
   Morgan A, Srivastava S , Duis J, van Bon B
   GeneReviews. 2021
   [Pubmed] 
4. Updated consensus guidelines on the management of Phelan-McDermid syndrome
   Srivastava S , Sahin M, Buxbaum JD, Berry-Kravis E, Soorya LV, Thurm A, Bernstein JA, Asante-Otoo A, Bennett, Jr WE, Betancur C, Brickhouse TH, Passos Bueno MR, Chopra M, Christensen CK, Cully JL, Dies K, Friedman K, Gummere B, Holder, Jr JL, Jimenez-Gomez A, Kerins CA, Khan O, Kohlenberg T, Lacro RV, Levi LA, Levy T, Linnehan D, Eva L, Moshiree B, Neumeyer A, Paul SM, Phelan K, Persico A, Rapaport R, Rogers C, Saland J, Sethuram S, Shapiro J, Tarr PI, White KM, Wickstrom J, Williams KM, Winrow D, Wishart B, Kolevzon A
   Am J Med Genet A. 2023 Aug 1; 191 (8): 2015-2044
   [Pubmed] 
5. RAND/UCLA Modified Delphi Panel on the Severity, Testing, and Medical Management of PIK3CA-Related Spectrum Disorders (PROS)
   Broder, Michael, Adams Denise, Canaud Guillame, Collins Christy, Davis Kristen, Frieden Ilona, Gibbs Sarah, Hammill Adrienne, Keppler-Noreuil Kim, Nakano Taizo, Penington Anthony, Srivastava Siddharth , Tollefson Megha, Warman Matthew
   Journal of Vascular Anomalies. June 2023.; 4 (2): e067
   

Clinical practice changes regarding genetic testing for NDDs

1. 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] 
2. 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] 
3. Mendelian Etiologies Identified with Whole Exome Sequencing in Cerebral Palsy
   Chopra M, Gable D, 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 J, Shore B, Snyder B, Stone S, Ubeda A, Watkins C, Berde C, Bolton J, Brownstein C, Costigan M, Fakhari D, Lai A, Luria A, Paciorkowski A, Pinto A, Pugh J, Rodan L, Roe E, Swanson L, Zhang B, Kruer M, Sahin M, Poduri A, Srivastava S
   Ann Clin Transl Neurol. 2022 Feb; 9 (2): 193-205
   [Pubmed] 
4. Molecular Diagnostic Yield of Exome Sequencing and Chromosomal Microarray in Cerebral Palsy - A Systematic Review and Meta-analysis
   Srivastava S , Lewis SA, Cohen JS, Zhang B, Aravamuthan BR, Chopra M, Sahin M, Kruer MC, Poduri A.
   JAMA Neurol. 2022 Oct 24
   [Pubmed] 
5. Underrepresentation of the term cerebral palsy in clinical genetics databases
   Srivastava S , Lewis S, Kruer M, Poduri A
   Am J Med Genet A. 2022 Aug 12.
   [Pubmed] 
6. Clinical utility of a genetic diagnosis in individuals with cerebral palsy and related motor disorders
   Santa Almansa A, Gable D, Frazier Z, Seveden A, Quinlan A, Chopra M, Lewis S, Kruer M, Poduri A, Srivastava S
   Annals of Clinical and Translationa Neurology. February 2024.; 11 (2): 251-262
   [Pubmed]