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. Scaling genomic reanalysis to unlock diagnoses and transform rare disease care. HGG Adv. 2026 Feb 18; 7(2):100582. View Abstract
  2. The Infant and Toddler Developmental Profile of Kleefstra Syndrome. Am J Med Genet A. 2026 Feb 06. View Abstract
  3. International Clinical Evidence-based Guideline for Kleefstra Syndrome. Genet Med. 2026 Jan 20; 102070. View Abstract
  4. The Role of Academic Medical Centers in Personalized Experimental Therapeutic Development: Key Considerations. Neurology. 2026 Feb 10; 106(3):e214610. View Abstract
  5. NNZ-2591 in Children and Adolescents With Phelan-McDermid Syndrome: Single-Group, Open-Label, Phase 2 Trial Results. Neurol Genet. 2026 Feb; 12(1):e200338. View Abstract
  6. Sensitivity Analysis of the Efficacy of Everolimus for Neurocognitive Symptoms in PTEN Hamartoma Tumor Syndrome. Adv Ther. 2026 Feb; 43(2):666-687. View Abstract
  7. LXR agonist rescues synaptic dysfunction and degeneration in SPG3A patient-specific iPSC-derived neurons. Acta Neuropathol Commun. 2025 Nov 17; 13(1):236. View Abstract
  8. Neurodevelopmental and Neurologic Manifestations of PTEN Hamartoma Tumor Syndrome: Management Recommendations. Neurol Genet. 2025 Oct; 11(5):e200299. View Abstract
  9. Use of Computational Phenotypes for Predicting Genetic Subgroups of Cerebral Palsy. Pediatr Neurol. 2025 Dec; 173:149-155. View Abstract
  10. ADAT3 variants disrupt the activity of the ADAT tRNA deaminase complex and impair neuronal migration. Brain. 2025 Sep 03; 148(9):3407-3421. View Abstract
  11. Genetic Subtypes of Phelan-McDermid Syndrome Exhibit Similar Rates of Change Despite Differences in Level of Impairment in Developmental Constructs. Am J Intellect Dev Disabil. 2025 Sep 01; 130(5):395-413. View Abstract
  12. Biallelic COL4A2 Variants Associated With Brain Small Vessel Disease and Brain Malformations. Clin Genet. 2026 Feb; 109(2):356-362. View Abstract
  13. Representation, activism, health promotion, and communication: The role of art in advancing global health and social justice. PLOS Glob Public Health. 2025; 5(7):e0004761. View Abstract
  14. Deep brain stimulation within a multi-center US-based healthcare system - A descriptive epidemiologic review from 2010 through 2021. J Clin Neurosci. 2025 Sep; 139:111428. View Abstract
  15. Guidelines for the Diagnosis and Clinical Management of Cavernous Malformations of the Brain and Spinal Cord: Consensus Recommendations Based on a Systematic Literature Review by the Alliance to Cure Cavernous Malformation Clinical Advisory Board Experts Panel. Neurosurgery. 2026 Jan 01; 98(1):3-22. View Abstract
  16. Expansion of the Genotypic and Phenotypic Spectrum of SETD5 Disorder Using Data From the National Brain Gene Registry. Clin Genet. 2025 Sep; 108(3):279-291. View Abstract
  17. PTEN mutations impair CSF dynamics and cortical networks by dysregulating periventricular neural progenitors. Nat Neurosci. 2025 Mar; 28(3):536-557. View Abstract
  18. CDK13-Related Disorder: Novel Insights From A Series of 27 Cases and Recommendations for Clinical Management. Clin Genet. 2025 Aug; 108(2):146-155. View Abstract
  19. Use of Computational Phenotypes for Predicting Genetic Subgroups of Cerebral Palsy. medRxiv. 2025 Feb 13. View Abstract
  20. Clinical Actionability of Genetic Findings in Cerebral Palsy: A Systematic Review and Meta-Analysis. JAMA Pediatr. 2025 Feb 01; 179(2). View Abstract
  21. 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
  22. Further delineation of the SCAF4-associated neurodevelopmental disorder. Eur J Hum Genet. 2025 May; 33(5):588-594. View Abstract
  23. 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
  24. 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
  25. Motor phenotypes associated with genetic neurodevelopmental disorders. Ann Clin Transl Neurol. 2024 Dec; 11(12):3238-3245. View Abstract
  26. Monoallelic loss-of-function variants in GSK3B lead to autism and developmental delay. Mol Psychiatry. 2025 May; 30(5):1952-1965. View Abstract
  27. 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
  28. Survey of the Landscape of Society Practice Guidelines for Genetic Testing of Neurodevelopmental Disorders. Ann Neurol. 2024 Nov; 96(5):900-913. View Abstract
  29. Aortic Root Dilation and Genotype Associations in Phelan-McDermid Syndrome. Am J Med Genet A. 2025 Jan; 197(1):e63872. View Abstract
  30. 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
  31. Loss of the long form of Plod2 phenocopies contractures of Bruck syndrome-osteogenesis imperfecta. J Bone Miner Res. 2024 Sep 02; 39(9):1240-1252. View Abstract
  32. Cohort Expansion and Genotype-Phenotype Analysis of RAB11A-Associated Neurodevelopmental Disorder. Pediatr Neurol. 2024 Nov; 160:45-53. View Abstract
  33. 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
  34. 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
  35. SETBP1 haploinsufficiency and related disorders clinical and neurobehavioral phenotype study. Clin Genet. 2024 Oct; 106(4):448-461. View Abstract
  36. Label-free single-vesicle based surface enhanced Raman spectroscopy: A robust approach for investigating the biomolecular composition of small extracellular vesicles. PLoS One. 2024; 19(6):e0305418. View Abstract
  37. Cerebral Palsy Phenotypes in Genetic Epilepsies. Pediatr Neurol. 2024 Aug; 157:79-86. View Abstract
  38. 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
  39. 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
  40. 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
  41. Clinical, genetic, and cognitive correlates of seizure occurrences in Phelan-McDermid syndrome. J Neurodev Disord. 2024 May 10; 16(1):25. View Abstract
  42. The Brain Gene Registry: a data snapshot. J Neurodev Disord. 2024 04 17; 16(1):17. View Abstract
  43. 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
  44. Understanding the emergence of 'Communitization' under India's National Rural Health Mission (NRHM): Findings from two Witness Seminars. Glob Public Health. 2024 Jan; 19(1):2306466. View Abstract
  45. Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features. HGG Adv. 2024 Apr 11; 5(2):100273. View Abstract
  46. Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies. medRxiv. 2024 Jan 26. View Abstract
  47. 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
  48. 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
  49. Arrhythmias including atrial fibrillation and congenital heart disease in Kleefstra syndrome: a possible epigenetic link. Europace. 2023 12 28; 26(1). View Abstract
  50. Controlling the Nucleation and Growth of Salt from Bodily Fluid for Enhanced Biosensing Applications. Biosensors (Basel). 2023 Dec 06; 13(12). View Abstract
  51. How to Build Healthy Societies: A Thematic Analysis of Relevant Conceptual Frameworks. Int J Health Policy Manag. 2023; 12:7451. View Abstract
  52. What Are Healthy Societies? A Thematic Analysis of Relevant Conceptual Frameworks. Int J Health Policy Manag. 2023; 12:7450. View Abstract
  53. Yield of genetic evaluation in non-syndromic pediatric moyamoya patients. Childs Nerv Syst. 2024 Mar; 40(3):801-808. View Abstract
  54. Heterozygous loss-of-function SMC3 variants are associated with variable and incompletely penetrant growth and developmental features. medRxiv. 2023 Sep 28. View Abstract
  55. Clinical actionability of genetic findings in cerebral palsy. medRxiv. 2023 Sep 11. View Abstract
  56. 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
  57. Next generation sequencing aids diagnosis and management in a case of encephalocraniocutaneous lipomatosis. Pediatr Dermatol. 2024 Jan-Feb; 41(1):76-79. View Abstract
  58. Updated consensus guidelines on the management of Phelan-McDermid syndrome. Am J Med Genet A. 2023 08; 191(8):2015-2044. View Abstract
  59. 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
  60. BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients. Eur J Hum Genet. 2023 09; 31(9):1023-1031. View Abstract
  61. 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
  62. Genotype-phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder. Hum Genet. 2023 Jul; 142(7):909-925. View Abstract
  63. POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrum. Clin Genet. 2023 08; 104(2):186-197. View Abstract
  64. Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta. Genet Med. 2023 08; 25(8):100856. View Abstract
  65. SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia. Brain. 2023 04 19; 146(4):1420-1435. View Abstract
  66. What Factors Explain Low Adoption of Digital Technologies for Health Financing in an Insurance Setting? Novel Evidence From a Quantitative Panel Study on IMIS in Tanzania. Int J Health Policy Manag. 2023; 12:6896. View Abstract
  67. 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
  68. 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
  69. 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
  70. Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome. Brain. 2022 10 21; 145(10):3383-3390. View Abstract
  71. 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
  72. Endoscopic retrograde cholangiopancreaticography-related complications - Experience from tertiary care teaching centre over half a decade. J Minim Access Surg. 2022 Oct-Dec; 18(4):526-532. View Abstract
  73. 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
  74. Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications. Brain. 2022 09 14; 145(9):2991-3009. View Abstract
  75. The Feasibility of Early Alzheimer's Disease Diagnosis Using a Neural Network Hybrid Platform. Biosensors (Basel). 2022 Sep 13; 12(9). View Abstract
  76. Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants. Genet Med. 2022 11; 24(11):2351-2366. View Abstract
  77. 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
  78. Motion Detection and Correction for Frame-Based Stereotactic Localization. Cureus. 2022 Aug; 14(8):e28387. View Abstract
  79. Expansion of the clinical and neuroimaging spectrum associated with NDUFS8-related disorder. JIMD Rep. 2022 Sep; 63(5):391-399. View Abstract
  80. Underrepresentation of the term cerebral palsy in clinical genetics databases. Am J Med Genet A. 2022 12; 188(12):3555-3557. View Abstract
  81. Pivoting from systems "thinking" to systems "doing" in health systems-Documenting stakeholder perspectives from Southeast Asia. Front Public Health. 2022; 10:910055. View Abstract
  82. 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
  83. 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
  84. 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
  85. De Novo ATP1A1 Variants in an Early-Onset Complex Neurodevelopmental Syndrome. Neurology. 2022 03 15; 98(11):440-445. View Abstract
  86. Mendelian etiologies identified with whole exome sequencing in cerebral palsy. Ann Clin Transl Neurol. 2022 02; 9(2):193-205. View Abstract
  87. 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
  88. Parent-reported measure of repetitive behavior in Phelan-McDermid syndrome. J Neurodev Disord. 2021 11 05; 13(1):53. View Abstract
  89. A recurrent SHANK3 frameshift variant in Autism Spectrum Disorder. NPJ Genom Med. 2021 Nov 04; 6(1):91. View Abstract
  90. Neurodevelopmental profile of HIVEP2-related disorder. Dev Med Child Neurol. 2022 05; 64(5):654-661. View Abstract
  91. 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
  92. 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
  93. Psychiatric Characteristics Across Individuals With PTEN Mutations. Front Psychiatry. 2021; 12:672070. View Abstract
  94. Quantitative EEG improves prediction of Sturge-Weber syndrome in infants with port-wine birthmark. Clin Neurophysiol. 2021 10; 132(10):2440-2446. View Abstract
  95. 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
  96. Expansion of the Genotypic and Phenotypic Spectrum of WASF1-Related Neurodevelopmental Disorder. Brain Sci. 2021 Jul 14; 11(7). View Abstract
  97. Severe speech impairment is a distinguishing feature of FOXP1-related disorder. Dev Med Child Neurol. 2021 12; 63(12):1417-1426. View Abstract
  98. 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
  99. Repetitive and Self-injurious Behaviors in Children with Cornelia de Lange Syndrome. J Autism Dev Disord. 2021 May; 51(5):1748-1758. View Abstract
  100. Speech and language deficits are central to SETBP1 haploinsufficiency disorder. Eur J Hum Genet. 2021 08; 29(8):1216-1225. View Abstract
  101. Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders. Genome Med. 2021 04 19; 13(1):63. View Abstract
  102. Clinical delineation of SETBP1 haploinsufficiency disorder. Eur J Hum Genet. 2021 08; 29(8):1198-1205. View Abstract
  103. 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
  104. 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
  105. Comparison of Interferon-Gamma Release Assay and Tuberculin Skin Test for the Screening of Latent Tuberculosis in Inflammatory Bowel Disease Patients: Indian Scenario. Tuberc Res Treat. 2021; 2021:6682840. View Abstract
  106. Factors influencing variation in implementation outcomes of the redesigned community health fund in the Dodoma region of Tanzania: a mixed-methods study. BMC Public Health. 2021 Jan 02; 21(1):1. View Abstract
  107. Unusual Behaviors in a 7-year-old Boy. Pediatr Rev. 2021 01; 42(Suppl 1):S122-S125. View Abstract
  108. 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
  109. Polymicrogyria is Associated With Pathogenic Variants in PTEN. Ann Neurol. 2020 12; 88(6):1153-1164. View Abstract
  110. 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
  111. Expansion of the genetic landscape of ERLIN2-related disorders. Ann Clin Transl Neurol. 2020 04; 7(4):573-578. View Abstract
  112. 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
  113. 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
  114. Neurobehavioral phenotype of autism spectrum disorder associated with germline heterozygous mutations in PTEN. Transl Psychiatry. 2019 10 08; 9(1):253. View Abstract
  115. Metabolic Strokes in Propionic Acidemia: Transient Hemiplegic Events Without Encephalopathy. Child Neurol Open. 2019; 6:2329048X19873242. View Abstract
  116. 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
  117. 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
  118. Expansion of the clinical spectrum associated with AARS2-related disorders. Am J Med Genet A. 2019 08; 179(8):1556-1564. View Abstract
  119. Dysregulations of sonic hedgehog signaling in MED12-related X-linked intellectual disability disorders. Mol Genet Genomic Med. 2019 04; 7(4):e00569. View Abstract
  120. Volumetric Analysis of the Basal Ganglia and Cerebellar Structures in Patients with Phelan-McDermid Syndrome. Pediatr Neurol. 2019 01; 90:37-43. View Abstract
  121. 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
  122. Cerebellar volume as an imaging marker of development in infants with tuberous sclerosis complex. Neurology. 2018 04 24; 90(17):e1493-e1500. View Abstract
  123. Monogenic disorders that mimic the phenotype of Rett syndrome. Neurogenetics. 2018 01; 19(1):41-47. View Abstract
  124. Neurodevelopmental Disorders Caused by De Novo Variants in KCNB1 Genotypes and Phenotypes. JAMA Neurol. 2017 10 01; 74(10):1228-1236. View Abstract
  125. 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
  126. Autism spectrum disorder and epileptic encephalopathy: common causes, many questions. J Neurodev Disord. 2017; 9:23. View Abstract
  127. 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
  128. 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
  129. Behavioral and psychiatric manifestations in Cornelia de Lange syndrome. Curr Opin Psychiatry. 2017 Mar; 30(2):92-96. View Abstract
  130. 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
  131. Epileptic Encephalopathy Due to BRAT1 Pathogenic Variants. Pediatr Neurol Briefs. 2016 Dec; 30(12):45. View Abstract
  132. 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
  133. Update on Leukodystrophies: A Historical Perspective and Adapted Definition. Neuropediatrics. 2016 Dec; 47(6):349-354. View Abstract
  134. BRAT1 mutations present with a spectrum of clinical severity. Am J Med Genet A. 2016 09; 170(9):2265-73. View Abstract
  135. Loss-of-function variants in HIVEP2 are a cause of intellectual disability. Eur J Hum Genet. 2016 Apr; 24(4):556-61. View Abstract
  136. 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
  137. ELP2 is a novel gene implicated in neurodevelopmental disabilities. Am J Med Genet A. 2015 Jun; 167(6):1391-5. View Abstract
  138. 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
  139. Clinical whole exome sequencing in child neurology practice. Ann Neurol. 2014 Oct; 76(4):473-83. View Abstract
  140. A novel variant in GABRB2 associated with intellectual disability and epilepsy. Am J Med Genet A. 2014 Nov; 164A(11):2914-21. View Abstract
  141. Early neurodevelopmental screening in tuberous sclerosis complex: a potential window of opportunity. Pediatr Neurol. 2014 Sep; 51(3):398-402. View Abstract
  142. Autism traits in children and adolescents with Cornelia de Lange syndrome. Am J Med Genet A. 2014 Jun; 164A(6):1400-10. View Abstract
  143. 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
  144. SETBP1 Haploinsufficiency Disorder. GeneReviews®. 1993. View Abstract
  145. Alexander Disease. GeneReviews®. 1993. View Abstract

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