Education

Undergraduate School

Columbia University
2006 New York NY

Medical School

Johns Hopkins University School of Medicine
2010 Baltimore MD

Internship

Johns Hopkins Hospital
2011 Baltimore MD

Residency

Johns Hopkins Hospital
2012 Baltimore MD

Residency

Kennedy Kreieger Institute
2016 Baltimore MD

Fellowship

Boston Children's Hospital
2017 Boston MA

Publications

  1. Expansion of the Genotypic and Phenotypic Spectrum of SETD5 Disorder Using Data From the National Brain Gene Registry. Clin Genet. 2025 Apr 23. View Abstract
  2. ADAT3 variants disrupt the activity of the ADAT tRNA deaminase complex and impair neuronal migration. Brain. 2025 Mar 22. View Abstract
  3. PTEN mutations impair CSF dynamics and cortical networks by dysregulating periventricular neural progenitors. Nat Neurosci. 2025 Mar; 28(3):536-557. View Abstract
  4. CDK13-Related Disorder: Novel Insights From A Series of 27 Cases and Recommendations for Clinical Management. Clin Genet. 2025 Feb 19. View Abstract
  5. Use of Computational Phenotypes for Predicting Genetic Subgroups of Cerebral Palsy. medRxiv. 2025 Feb 13. View Abstract
  6. Clinical Actionability of Genetic Findings in Cerebral Palsy: A Systematic Review and Meta-Analysis. JAMA Pediatr. 2025 Feb 01; 179(2). View Abstract
  7. Novel Phenotypes and Genotype-Phenotype Correlations in a Large Clinical Cohort of Patients With Kleefstra Syndrome. Clin Genet. 2025 Jun; 107(6):636-645. View Abstract
  8. Further delineation of the SCAF4-associated neurodevelopmental disorder. Eur J Hum Genet. 2025 May; 33(5):588-594. View Abstract
  9. Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes. NPJ Genom Med. 2024 Dec 02; 9(1):60. View Abstract
  10. Neurodevelopmental disorders associated variants in ADAT3 disrupt the activity of the ADAT2/ADAT3 tRNA deaminase complex and impair neuronal migration. medRxiv. 2024 Nov 18. View Abstract
  11. Motor phenotypes associated with genetic neurodevelopmental disorders. Ann Clin Transl Neurol. 2024 Dec; 11(12):3238-3245. View Abstract
  12. Monoallelic loss-of-function variants in GSK3B lead to autism and developmental delay. Mol Psychiatry. 2025 May; 30(5):1952-1965. View Abstract
  13. Case Report of Friedreich's Ataxia and ALG1 -Related Biochemical Abnormalities in a Patient With Progressive Spastic Paraplegia. Am J Med Genet A. 2025 Feb; 197(2):e63890. View Abstract
  14. Survey of the Landscape of Society Practice Guidelines for Genetic Testing of Neurodevelopmental Disorders. Ann Neurol. 2024 Nov; 96(5):900-913. View Abstract
  15. Aortic Root Dilation and Genotype Associations in Phelan-McDermid Syndrome. Am J Med Genet A. 2025 Jan; 197(1):e63872. View Abstract
  16. A roadmap for SHANK3-related Epilepsy Research: recommendations from the 2023 strategic planning workshop. Ther Adv Rare Dis. 2024 Jan-Dec; 5:26330040241273464. View Abstract
  17. Cohort Expansion and Genotype-Phenotype Analysis of RAB11A-Associated Neurodevelopmental Disorder. Pediatr Neurol. 2024 Nov; 160:45-53. View Abstract
  18. Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome. Am J Hum Genet. 2024 Aug 08; 111(8):1605-1625. View Abstract
  19. Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes. Am J Hum Genet. 2024 Aug 08; 111(8):1626-1642. View Abstract
  20. SETBP1 haploinsufficiency and related disorders clinical and neurobehavioral phenotype study. Clin Genet. 2024 Oct; 106(4):448-461. View Abstract
  21. Cerebral Palsy Phenotypes in Genetic Epilepsies. Pediatr Neurol. 2024 Aug; 157:79-86. View Abstract
  22. MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature. Am J Hum Genet. 2024 07 11; 111(7):1330-1351. View Abstract
  23. Expanding the phenotype of Kleefstra syndrome: speech, language and cognition in 103 individuals. J Med Genet. 2024 May 21; 61(6):578-585. View Abstract
  24. Abnormality of Early White Matter Development in Tuberous Sclerosis Complex and Autism Spectrum Disorder: Longitudinal Analysis of Diffusion Tensor Imaging Measures. J Child Neurol. 2024 May; 39(5-6):178-189. View Abstract
  25. Clinical, genetic, and cognitive correlates of seizure occurrences in Phelan-McDermid syndrome. J Neurodev Disord. 2024 May 10; 16(1):25. View Abstract
  26. The Brain Gene Registry: a data snapshot. J Neurodev Disord. 2024 Apr 17; 16(1):17. View Abstract
  27. Exploring the neurological features of individuals with germline PTEN variants: A multicenter study. Ann Clin Transl Neurol. 2024 May; 11(5):1301-1309. View Abstract
  28. Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features. HGG Adv. 2024 Apr 11; 5(2):100273. View Abstract
  29. Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies. medRxiv. 2024 Jan 26. View Abstract
  30. Characteristics and use of patient-reported outcomes of clinical trials for high-risk neurological medical devices that received FDA premarket approval from 2001 to 2022. Contemp Clin Trials Commun. 2024 Feb; 37:101254. View Abstract
  31. Clinical utility of a genetic diagnosis in individuals with cerebral palsy and related motor disorders. Ann Clin Transl Neurol. 2024 02; 11(2):251-262. View Abstract
  32. Arrhythmias including atrial fibrillation and congenital heart disease in Kleefstra syndrome: a possible epigenetic link. Europace. 2023 Dec 28; 26(1). View Abstract
  33. Yield of genetic evaluation in non-syndromic pediatric moyamoya patients. Childs Nerv Syst. 2024 Mar; 40(3):801-808. View Abstract
  34. Heterozygous loss-of-function SMC3 variants are associated with variable and incompletely penetrant growth and developmental features. medRxiv. 2023 Sep 28. View Abstract
  35. Clinical actionability of genetic findings in cerebral palsy. medRxiv. 2023 Sep 11. View Abstract
  36. CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology. Eur J Hum Genet. 2023 11; 31(11):1251-1260. View Abstract
  37. Next generation sequencing aids diagnosis and management in a case of encephalocraniocutaneous lipomatosis. Pediatr Dermatol. 2024 Jan-Feb; 41(1):76-79. View Abstract
  38. Updated consensus guidelines on the management of Phelan-McDermid syndrome. Am J Med Genet A. 2023 08; 191(8):2015-2044. View Abstract
  39. Nutritional therapy for persistent cognitive impairment after resolution of overt hepatic encephalopathy in patients with cirrhosis: A double-blind randomized controlled trial. J Gastroenterol Hepatol. 2023 Nov; 38(11):1917-1925. View Abstract
  40. BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients. Eur J Hum Genet. 2023 09; 31(9):1023-1031. View Abstract
  41. Jansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families. Am J Med Genet A. 2023 07; 191(7):1900-1910. View Abstract
  42. Genotype-phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder. Hum Genet. 2023 Jul; 142(7):909-925. View Abstract
  43. POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrum. Clin Genet. 2023 08; 104(2):186-197. View Abstract
  44. Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta. Genet Med. 2023 08; 25(8):100856. View Abstract
  45. SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia. Brain. 2023 04 19; 146(4):1420-1435. View Abstract
  46. Longitudinal neurobehavioral profiles in children and young adults with PTEN hamartoma tumor syndrome and reliable methods for assessing neurobehavioral change. J Neurodev Disord. 2023 01 14; 15(1):3. View Abstract
  47. De novo variants cause complex symptoms in HSP-ATL1 (SPG3A) and uncover genotype-phenotype correlations. Hum Mol Genet. 2023 01 01; 32(1):93-103. View Abstract
  48. Molecular Diagnostic Yield of Exome Sequencing and Chromosomal Microarray in Cerebral Palsy: A Systematic Review and Meta-analysis. JAMA Neurol. 2022 12 01; 79(12):1287-1295. View Abstract
  49. Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome. Brain. 2022 10 21; 145(10):3383-3390. View Abstract
  50. A randomized controlled trial of everolimus for neurocognitive symptoms in PTEN hamartoma tumor syndrome. Hum Mol Genet. 2022 10 10; 31(20):3393-3404. View Abstract
  51. Early-Onset and Severe Complex Hereditary Spastic Paraplegia Caused by De Novo Variants in SPAST. Mov Disord. 2022 12; 37(12):2440-2446. View Abstract
  52. Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications. Brain. 2022 09 14; 145(9):2991-3009. View Abstract
  53. Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants. Genet Med. 2022 11; 24(11):2351-2366. View Abstract
  54. On Terms: What's in a Name? Intellectual Disability and "Condition," "Disorder," "Syndrome," "Disease," and "Disability". Am J Intellect Dev Disabil. 2022 09 01; 127(5):349-354. View Abstract
  55. Expansion of the clinical and neuroimaging spectrum associated with NDUFS8-related disorder. JIMD Rep. 2022 Sep; 63(5):391-399. View Abstract
  56. Underrepresentation of the term cerebral palsy in clinical genetics databases. Am J Med Genet A. 2022 12; 188(12):3555-3557. View Abstract
  57. 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. View Abstract
  58. 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. View Abstract
  59. 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. View Abstract
  60. De Novo ATP1A1 Variants in an Early-Onset Complex Neurodevelopmental Syndrome. Neurology. 2022 03 15; 98(11):440-445. View Abstract
  61. Mendelian etiologies identified with whole exome sequencing in cerebral palsy. Ann Clin Transl Neurol. 2022 02; 9(2):193-205. View Abstract
  62. Intracranial venous malformation masquerading as a meningioma in PI3KCA-related overgrowth spectrum disorder. Am J Med Genet A. 2022 03; 188(3):907-910. View Abstract
  63. Parent-reported measure of repetitive behavior in Phelan-McDermid syndrome. J Neurodev Disord. 2021 11 05; 13(1):53. View Abstract
  64. A recurrent SHANK3 frameshift variant in Autism Spectrum Disorder. NPJ Genom Med. 2021 Nov 04; 6(1):91. View Abstract
  65. Neurodevelopmental profile of HIVEP2-related disorder. Dev Med Child Neurol. 2022 05; 64(5):654-661. View Abstract
  66. 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. View Abstract
  67. 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. View Abstract
  68. Psychiatric Characteristics Across Individuals With PTEN Mutations. Front Psychiatry. 2021; 12:672070. View Abstract
  69. Quantitative EEG improves prediction of Sturge-Weber syndrome in infants with port-wine birthmark. Clin Neurophysiol. 2021 10; 132(10):2440-2446. View Abstract
  70. A standard of care for individuals with PIK3CA-related disorders: An international expert consensus statement. Clin Genet. 2022 01; 101(1):32-47. View Abstract
  71. Expansion of the Genotypic and Phenotypic Spectrum of WASF1-Related Neurodevelopmental Disorder. Brain Sci. 2021 Jul 14; 11(7). View Abstract
  72. Severe speech impairment is a distinguishing feature of FOXP1-related disorder. Dev Med Child Neurol. 2021 12; 63(12):1417-1426. View Abstract
  73. Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability. Hum Mutat. 2021 06; 42(6):762-776. View Abstract
  74. Repetitive and Self-injurious Behaviors in Children with Cornelia de Lange Syndrome. J Autism Dev Disord. 2021 May; 51(5):1748-1758. View Abstract
  75. Speech and language deficits are central to SETBP1 haploinsufficiency disorder. Eur J Hum Genet. 2021 08; 29(8):1216-1225. View Abstract
  76. Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders. Genome Med. 2021 04 19; 13(1):63. View Abstract
  77. Clinical delineation of SETBP1 haploinsufficiency disorder. Eur J Hum Genet. 2021 08; 29(8):1198-1205. View Abstract
  78. Natural History of Thyroid Disease in Children with PTEN Hamartoma Tumor Syndrome. J Clin Endocrinol Metab. 2021 03 08; 106(3):e1121-e1130. View Abstract
  79. 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. View Abstract
  80. Unusual Behaviors in a 7-year-old Boy. Pediatr Rev. 2021 01; 42(Suppl 1):S122-S125. View Abstract
  81. The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction. Genet Med. 2021 02; 23(2):352-362. View Abstract
  82. Polymicrogyria is Associated With Pathogenic Variants in PTEN. Ann Neurol. 2020 12; 88(6):1153-1164. View Abstract
  83. Int22h1/Int22h2-mediated Xq28 duplication syndrome: de novo duplications, prenatal diagnoses, and additional phenotypic features. Hum Mutat. 2020 07; 41(7):1238-1249. View Abstract
  84. Expansion of the genetic landscape of ERLIN2-related disorders. Ann Clin Transl Neurol. 2020 04; 7(4):573-578. View Abstract
  85. Diffusion Tensor Imaging Abnormalities in the Uncinate Fasciculus and Inferior Longitudinal Fasciculus in Phelan-McDermid Syndrome. Pediatr Neurol. 2020 05; 106:24-31. View Abstract
  86. 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. View Abstract
  87. Neurobehavioral phenotype of autism spectrum disorder associated with germline heterozygous mutations in PTEN. Transl Psychiatry. 2019 10 08; 9(1):253. View Abstract
  88. Metabolic Strokes in Propionic Acidemia: Transient Hemiplegic Events Without Encephalopathy. Child Neurol Open. 2019; 6:2329048X19873242. View Abstract
  89. 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. View Abstract
  90. 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. View Abstract
  91. Expansion of the clinical spectrum associated with AARS2-related disorders. Am J Med Genet A. 2019 08; 179(8):1556-1564. View Abstract
  92. Dysregulations of sonic hedgehog signaling in MED12-related X-linked intellectual disability disorders. Mol Genet Genomic Med. 2019 04; 7(4):e00569. View Abstract
  93. Volumetric Analysis of the Basal Ganglia and Cerebellar Structures in Patients with Phelan-McDermid Syndrome. Pediatr Neurol. 2019 01; 90:37-43. View Abstract
  94. 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. View Abstract
  95. Cerebellar volume as an imaging marker of development in infants with tuberous sclerosis complex. Neurology. 2018 04 24; 90(17):e1493-e1500. View Abstract
  96. Monogenic disorders that mimic the phenotype of Rett syndrome. Neurogenetics. 2018 01; 19(1):41-47. View Abstract
  97. Neurodevelopmental Disorders Caused by De Novo Variants in KCNB1 Genotypes and Phenotypes. JAMA Neurol. 2017 10 01; 74(10):1228-1236. View Abstract
  98. Deficiency of WARS2, encoding mitochondrial tryptophanyl tRNA synthetase, causes severe infantile onset leukoencephalopathy. Am J Med Genet A. 2017 Sep; 173(9):2505-2510. View Abstract
  99. Autism spectrum disorder and epileptic encephalopathy: common causes, many questions. J Neurodev Disord. 2017; 9:23. View Abstract
  100. 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. View Abstract
  101. Evaluation of QTc in Rett syndrome: Correlation with age, severity, and genotype. Am J Med Genet A. 2017 Jun; 173(6):1495-1501. View Abstract
  102. Behavioral and psychiatric manifestations in Cornelia de Lange syndrome. Curr Opin Psychiatry. 2017 Mar; 30(2):92-96. View Abstract
  103. 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. View Abstract
  104. Epileptic Encephalopathy Due to BRAT1 Pathogenic Variants. Pediatr Neurol Briefs. 2016 Dec; 30(12):45. View Abstract
  105. 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. View Abstract
  106. Update on Leukodystrophies: A Historical Perspective and Adapted Definition. Neuropediatrics. 2016 Dec; 47(6):349-354. View Abstract
  107. BRAT1 mutations present with a spectrum of clinical severity. Am J Med Genet A. 2016 09; 170(9):2265-73. View Abstract
  108. Loss-of-function variants in HIVEP2 are a cause of intellectual disability. Eur J Hum Genet. 2016 Apr; 24(4):556-61. View Abstract
  109. 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. View Abstract
  110. ELP2 is a novel gene implicated in neurodevelopmental disabilities. Am J Med Genet A. 2015 Jun; 167(6):1391-5. View Abstract
  111. 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. View Abstract
  112. Clinical whole exome sequencing in child neurology practice. Ann Neurol. 2014 Oct; 76(4):473-83. View Abstract
  113. A novel variant in GABRB2 associated with intellectual disability and epilepsy. Am J Med Genet A. 2014 Nov; 164A(11):2914-21. View Abstract
  114. Early neurodevelopmental screening in tuberous sclerosis complex: a potential window of opportunity. Pediatr Neurol. 2014 Sep; 51(3):398-402. View Abstract
  115. Autism traits in children and adolescents with Cornelia de Lange syndrome. Am J Med Genet A. 2014 Jun; 164A(6):1400-10. View Abstract
  116. Role of probiotics on gut permeability and endotoxemia in patients with acute pancreatitis: a double-blind randomized controlled trial. J Clin Gastroenterol. 2011 May-Jun; 45(5):442-8. View Abstract
  117. SETBP1 Haploinsufficiency Disorder. GeneReviews®. 1993. View Abstract
  118. Alexander Disease. GeneReviews®. 1993. View Abstract

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