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1 Boston Children's Hospital | 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

1 Boston Children's Hospital | Publications

  1. 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. 2025 May 21. View 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. Abstract

  2. Expansion of the Genotypic and Phenotypic Spectrum of SETD5 Disorder Using Data From the National Brain Gene Registry. Clin Genet. 2025 Apr 23. View Expansion of the Genotypic and Phenotypic Spectrum of SETD5 Disorder Using Data From the National Brain Gene Registry. Abstract

  3. ADAT3 variants disrupt the activity of the ADAT tRNA deaminase complex and impair neuronal migration. Brain. 2025 Mar 22. View ADAT3 variants disrupt the activity of the ADAT tRNA deaminase complex and impair neuronal migration. Abstract

  4. PTEN mutations impair CSF dynamics and cortical networks by dysregulating periventricular neural progenitors. Nat Neurosci. 2025 Mar; 28(3):536-557. View PTEN mutations impair CSF dynamics and cortical networks by dysregulating periventricular neural progenitors. Abstract

  5. CDK13-Related Disorder: Novel Insights From A Series of 27 Cases and Recommendations for Clinical Management. Clin Genet. 2025 Feb 19. View CDK13-Related Disorder: Novel Insights From A Series of 27 Cases and Recommendations for Clinical Management. Abstract

  6. Use of Computational Phenotypes for Predicting Genetic Subgroups of Cerebral Palsy. medRxiv. 2025 Feb 13. View Use of Computational Phenotypes for Predicting Genetic Subgroups of Cerebral Palsy. Abstract

  7. Clinical Actionability of Genetic Findings in Cerebral Palsy: A Systematic Review and Meta-Analysis. JAMA Pediatr. 2025 Feb 01; 179(2). View Clinical Actionability of Genetic Findings in Cerebral Palsy: A Systematic Review and Meta-Analysis. Abstract

  8. 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 Novel Phenotypes and Genotype-Phenotype Correlations in a Large Clinical Cohort of Patients With Kleefstra Syndrome. Abstract

  9. Further delineation of the SCAF4-associated neurodevelopmental disorder. Eur J Hum Genet. 2025 May; 33(5):588-594. View Further delineation of the SCAF4-associated neurodevelopmental disorder. Abstract

  10. Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes. NPJ Genom Med. 2024 Dec 02; 9(1):60. View Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes. Abstract

  11. 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 Neurodevelopmental disorders associated variants in ADAT3 disrupt the activity of the ADAT2/ADAT3 tRNA deaminase complex and impair neuronal migration. Abstract

  12. Motor phenotypes associated with genetic neurodevelopmental disorders. Ann Clin Transl Neurol. 2024 Dec; 11(12):3238-3245. View Motor phenotypes associated with genetic neurodevelopmental disorders. Abstract

  13. Monoallelic loss-of-function variants in GSK3B lead to autism and developmental delay. Mol Psychiatry. 2025 May; 30(5):1952-1965. View Monoallelic loss-of-function variants in GSK3B lead to autism and developmental delay. Abstract

  14. 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 Case Report of Friedreich's Ataxia and ALG1 -Related Biochemical Abnormalities in a Patient With Progressive Spastic Paraplegia. Abstract

  15. Survey of the Landscape of Society Practice Guidelines for Genetic Testing of Neurodevelopmental Disorders. Ann Neurol. 2024 Nov; 96(5):900-913. View Survey of the Landscape of Society Practice Guidelines for Genetic Testing of Neurodevelopmental Disorders. Abstract

  16. Aortic Root Dilation and Genotype Associations in Phelan-McDermid Syndrome. Am J Med Genet A. 2025 Jan; 197(1):e63872. View Aortic Root Dilation and Genotype Associations in Phelan-McDermid Syndrome. Abstract

  17. A roadmap for SHANK3-related Epilepsy Research: recommendations from the 2023 strategic planning workshop. Ther Adv Rare Dis. 2024 Jan-Dec; 5:26330040241273464. View A roadmap for SHANK3-related Epilepsy Research: recommendations from the 2023 strategic planning workshop. Abstract

  18. Cohort Expansion and Genotype-Phenotype Analysis of RAB11A-Associated Neurodevelopmental Disorder. Pediatr Neurol. 2024 Nov; 160:45-53. View Cohort Expansion and Genotype-Phenotype Analysis of RAB11A-Associated Neurodevelopmental Disorder. Abstract

  19. 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 Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome. Abstract

  20. 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 Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes. Abstract

  21. SETBP1 haploinsufficiency and related disorders clinical and neurobehavioral phenotype study. Clin Genet. 2024 Oct; 106(4):448-461. View SETBP1 haploinsufficiency and related disorders clinical and neurobehavioral phenotype study. Abstract

  22. Cerebral Palsy Phenotypes in Genetic Epilepsies. Pediatr Neurol. 2024 Aug; 157:79-86. View Cerebral Palsy Phenotypes in Genetic Epilepsies. Abstract

  23. 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 MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature. Abstract

  24. Expanding the phenotype of Kleefstra syndrome: speech, language and cognition in 103 individuals. J Med Genet. 2024 May 21; 61(6):578-585. View Expanding the phenotype of Kleefstra syndrome: speech, language and cognition in 103 individuals. Abstract

  25. 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 Abnormality of Early White Matter Development in Tuberous Sclerosis Complex and Autism Spectrum Disorder: Longitudinal Analysis of Diffusion Tensor Imaging Measures. Abstract

  26. Clinical, genetic, and cognitive correlates of seizure occurrences in Phelan-McDermid syndrome. J Neurodev Disord. 2024 May 10; 16(1):25. View Clinical, genetic, and cognitive correlates of seizure occurrences in Phelan-McDermid syndrome. Abstract

  27. The Brain Gene Registry: a data snapshot. J Neurodev Disord. 2024 Apr 17; 16(1):17. View The Brain Gene Registry: a data snapshot. Abstract

  28. Exploring the neurological features of individuals with germline PTEN variants: A multicenter study. Ann Clin Transl Neurol. 2024 May; 11(5):1301-1309. View Exploring the neurological features of individuals with germline PTEN variants: A multicenter study. Abstract

  29. Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features. HGG Adv. 2024 Apr 11; 5(2):100273. View Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features. Abstract

  30. Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies. medRxiv. 2024 Jan 26. View Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies. Abstract

  31. 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 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. Abstract

  32. 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 Clinical utility of a genetic diagnosis in individuals with cerebral palsy and related motor disorders. Abstract

  33. Arrhythmias including atrial fibrillation and congenital heart disease in Kleefstra syndrome: a possible epigenetic link. Europace. 2023 Dec 28; 26(1). View Arrhythmias including atrial fibrillation and congenital heart disease in Kleefstra syndrome: a possible epigenetic link. Abstract

  34. Yield of genetic evaluation in non-syndromic pediatric moyamoya patients. Childs Nerv Syst. 2024 Mar; 40(3):801-808. View Yield of genetic evaluation in non-syndromic pediatric moyamoya patients. Abstract

  35. Heterozygous loss-of-function SMC3 variants are associated with variable and incompletely penetrant growth and developmental features. medRxiv. 2023 Sep 28. View Heterozygous loss-of-function SMC3 variants are associated with variable and incompletely penetrant growth and developmental features. Abstract

  36. Clinical actionability of genetic findings in cerebral palsy. medRxiv. 2023 Sep 11. View Clinical actionability of genetic findings in cerebral palsy. Abstract

  37. CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology. Eur J Hum Genet. 2023 11; 31(11):1251-1260. View CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology. Abstract

  38. Next generation sequencing aids diagnosis and management in a case of encephalocraniocutaneous lipomatosis. Pediatr Dermatol. 2024 Jan-Feb; 41(1):76-79. View Next generation sequencing aids diagnosis and management in a case of encephalocraniocutaneous lipomatosis. Abstract

  39. Updated consensus guidelines on the management of Phelan-McDermid syndrome. Am J Med Genet A. 2023 08; 191(8):2015-2044. View Updated consensus guidelines on the management of Phelan-McDermid syndrome. Abstract

  40. 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 Nutritional therapy for persistent cognitive impairment after resolution of overt hepatic encephalopathy in patients with cirrhosis: A double-blind randomized controlled trial. Abstract

  41. BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients. Eur J Hum Genet. 2023 09; 31(9):1023-1031. View BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients. Abstract

  42. 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 Jansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families. Abstract

  43. Genotype-phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder. Hum Genet. 2023 Jul; 142(7):909-925. View Genotype-phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder. Abstract

  44. POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrum. Clin Genet. 2023 08; 104(2):186-197. View POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrum. Abstract

  45. Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta. Genet Med. 2023 08; 25(8):100856. View Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta. Abstract

  46. SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia. Brain. 2023 04 19; 146(4):1420-1435. View SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia. Abstract

  47. 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 Longitudinal neurobehavioral profiles in children and young adults with PTEN hamartoma tumor syndrome and reliable methods for assessing neurobehavioral change. Abstract

  48. 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 De novo variants cause complex symptoms in HSP-ATL1 (SPG3A) and uncover genotype-phenotype correlations. Abstract

  49. 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 Molecular Diagnostic Yield of Exome Sequencing and Chromosomal Microarray in Cerebral Palsy: A Systematic Review and Meta-analysis. Abstract

  50. Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome. Brain. 2022 10 21; 145(10):3383-3390. View Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome. Abstract

  51. 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 A randomized controlled trial of everolimus for neurocognitive symptoms in PTEN hamartoma tumor syndrome. Abstract

  52. Early-Onset and Severe Complex Hereditary Spastic Paraplegia Caused by De Novo Variants in SPAST. Mov Disord. 2022 12; 37(12):2440-2446. View Early-Onset and Severe Complex Hereditary Spastic Paraplegia Caused by De Novo Variants in SPAST. Abstract

  53. Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications. Brain. 2022 09 14; 145(9):2991-3009. View Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications. Abstract

  54. Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants. Genet Med. 2022 11; 24(11):2351-2366. View Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants. Abstract

  55. 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 On Terms: What's in a Name? Intellectual Disability and "Condition," "Disorder," "Syndrome," "Disease," and "Disability". Abstract

  56. Expansion of the clinical and neuroimaging spectrum associated with NDUFS8-related disorder. JIMD Rep. 2022 Sep; 63(5):391-399. View Expansion of the clinical and neuroimaging spectrum associated with NDUFS8-related disorder. Abstract

  57. Underrepresentation of the term cerebral palsy in clinical genetics databases. Am J Med Genet A. 2022 12; 188(12):3555-3557. View Underrepresentation of the term cerebral palsy in clinical genetics databases. Abstract

  58. 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 Validation of a computational phenotype for finding patients eligible for genetic testing for pathogenic PTEN variants across three centers. Abstract

  59. 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 Strong evidence for genotype-phenotype correlations in Phelan-McDermid syndrome: results from the developmental synaptopathies consortium. Abstract

  60. 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 Phenotypic spectrum of the recurrent TRPM3 p.(Val837Met) substitution in seven individuals with global developmental delay and hypotonia. Abstract

  61. De Novo ATP1A1 Variants in an Early-Onset Complex Neurodevelopmental Syndrome. Neurology. 2022 03 15; 98(11):440-445. View De Novo ATP1A1 Variants in an Early-Onset Complex Neurodevelopmental Syndrome. Abstract

  62. Mendelian etiologies identified with whole exome sequencing in cerebral palsy. Ann Clin Transl Neurol. 2022 02; 9(2):193-205. View Mendelian etiologies identified with whole exome sequencing in cerebral palsy. Abstract

  63. 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 Intracranial venous malformation masquerading as a meningioma in PI3KCA-related overgrowth spectrum disorder. Abstract

  64. Parent-reported measure of repetitive behavior in Phelan-McDermid syndrome. J Neurodev Disord. 2021 11 05; 13(1):53. View Parent-reported measure of repetitive behavior in Phelan-McDermid syndrome. Abstract

  65. A recurrent SHANK3 frameshift variant in Autism Spectrum Disorder. NPJ Genom Med. 2021 Nov 04; 6(1):91. View A recurrent SHANK3 frameshift variant in Autism Spectrum Disorder. Abstract

  66. Neurodevelopmental profile of HIVEP2-related disorder. Dev Med Child Neurol. 2022 05; 64(5):654-661. View Neurodevelopmental profile of HIVEP2-related disorder. Abstract

  67. 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 Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms. Abstract

  68. 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 Toward better characterization of restricted and repetitive behaviors in individuals with germline heterozygous PTEN mutations. Abstract

  69. Psychiatric Characteristics Across Individuals With PTEN Mutations. Front Psychiatry. 2021; 12:672070. View Psychiatric Characteristics Across Individuals With PTEN Mutations. Abstract

  70. Quantitative EEG improves prediction of Sturge-Weber syndrome in infants with port-wine birthmark. Clin Neurophysiol. 2021 10; 132(10):2440-2446. View Quantitative EEG improves prediction of Sturge-Weber syndrome in infants with port-wine birthmark. Abstract

  71. A standard of care for individuals with PIK3CA-related disorders: An international expert consensus statement. Clin Genet. 2022 01; 101(1):32-47. View A standard of care for individuals with PIK3CA-related disorders: An international expert consensus statement. Abstract

  72. Expansion of the Genotypic and Phenotypic Spectrum of WASF1-Related Neurodevelopmental Disorder. Brain Sci. 2021 Jul 14; 11(7). View Expansion of the Genotypic and Phenotypic Spectrum of WASF1-Related Neurodevelopmental Disorder. Abstract

  73. Severe speech impairment is a distinguishing feature of FOXP1-related disorder. Dev Med Child Neurol. 2021 12; 63(12):1417-1426. View Severe speech impairment is a distinguishing feature of FOXP1-related disorder. Abstract

  74. 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 Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability. Abstract

  75. Repetitive and Self-injurious Behaviors in Children with Cornelia de Lange Syndrome. J Autism Dev Disord. 2021 May; 51(5):1748-1758. View Repetitive and Self-injurious Behaviors in Children with Cornelia de Lange Syndrome. Abstract

  76. Speech and language deficits are central to SETBP1 haploinsufficiency disorder. Eur J Hum Genet. 2021 08; 29(8):1216-1225. View Speech and language deficits are central to SETBP1 haploinsufficiency disorder. Abstract

  77. Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders. Genome Med. 2021 04 19; 13(1):63. View Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders. Abstract

  78. Clinical delineation of SETBP1 haploinsufficiency disorder. Eur J Hum Genet. 2021 08; 29(8):1198-1205. View Clinical delineation of SETBP1 haploinsufficiency disorder. Abstract

  79. Natural History of Thyroid Disease in Children with PTEN Hamartoma Tumor Syndrome. J Clin Endocrinol Metab. 2021 03 08; 106(3):e1121-e1130. View Natural History of Thyroid Disease in Children with PTEN Hamartoma Tumor Syndrome. Abstract

  80. 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 Brief Report: Role of Parent-Reported Executive Functioning and Anxiety in Insistence on Sameness in Individuals with Germline PTEN Mutations. Abstract

  81. Unusual Behaviors in a 7-year-old Boy. Pediatr Rev. 2021 01; 42(Suppl 1):S122-S125. View Unusual Behaviors in a 7-year-old Boy. Abstract

  82. 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 The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction. Abstract

  83. Polymicrogyria is Associated With Pathogenic Variants in PTEN. Ann Neurol. 2020 12; 88(6):1153-1164. View Polymicrogyria is Associated With Pathogenic Variants in PTEN. Abstract

  84. Int22h1/Int22h2-mediated Xq28 duplication syndrome: de novo duplications, prenatal diagnoses, and additional phenotypic features. Hum Mutat. 2020 07; 41(7):1238-1249. View Int22h1/Int22h2-mediated Xq28 duplication syndrome: de novo duplications, prenatal diagnoses, and additional phenotypic features. Abstract

  85. Expansion of the genetic landscape of ERLIN2-related disorders. Ann Clin Transl Neurol. 2020 04; 7(4):573-578. View Expansion of the genetic landscape of ERLIN2-related disorders. Abstract

  86. Diffusion Tensor Imaging Abnormalities in the Uncinate Fasciculus and Inferior Longitudinal Fasciculus in Phelan-McDermid Syndrome. Pediatr Neurol. 2020 05; 106:24-31. View Diffusion Tensor Imaging Abnormalities in the Uncinate Fasciculus and Inferior Longitudinal Fasciculus in Phelan-McDermid Syndrome. Abstract

  87. 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 Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome. Abstract

  88. Neurobehavioral phenotype of autism spectrum disorder associated with germline heterozygous mutations in PTEN. Transl Psychiatry. 2019 10 08; 9(1):253. View Neurobehavioral phenotype of autism spectrum disorder associated with germline heterozygous mutations in PTEN. Abstract

  89. Metabolic Strokes in Propionic Acidemia: Transient Hemiplegic Events Without Encephalopathy. Child Neurol Open. 2019; 6:2329048X19873242. View Metabolic Strokes in Propionic Acidemia: Transient Hemiplegic Events Without Encephalopathy. Abstract

  90. 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 EPG5 Variants with Modest Functional Impact Result in an Ameliorated and Primarily Neurological Phenotype in a 3.5-Year-Old Patient with Vici Syndrome. Abstract

  91. 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 Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders. Abstract

  92. Expansion of the clinical spectrum associated with AARS2-related disorders. Am J Med Genet A. 2019 08; 179(8):1556-1564. View Expansion of the clinical spectrum associated with AARS2-related disorders. Abstract

  93. Dysregulations of sonic hedgehog signaling in MED12-related X-linked intellectual disability disorders. Mol Genet Genomic Med. 2019 04; 7(4):e00569. View Dysregulations of sonic hedgehog signaling in MED12-related X-linked intellectual disability disorders. Abstract

  94. Volumetric Analysis of the Basal Ganglia and Cerebellar Structures in Patients with Phelan-McDermid Syndrome. Pediatr Neurol. 2019 01; 90:37-43. View Volumetric Analysis of the Basal Ganglia and Cerebellar Structures in Patients with Phelan-McDermid Syndrome. Abstract

  95. 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 ST3GAL5-Related Disorders: A Deficiency in Ganglioside Metabolism and a Genetic Cause of Intellectual Disability and Choreoathetosis. Abstract

  96. Cerebellar volume as an imaging marker of development in infants with tuberous sclerosis complex. Neurology. 2018 04 24; 90(17):e1493-e1500. View Cerebellar volume as an imaging marker of development in infants with tuberous sclerosis complex. Abstract

  97. Monogenic disorders that mimic the phenotype of Rett syndrome. Neurogenetics. 2018 01; 19(1):41-47. View Monogenic disorders that mimic the phenotype of Rett syndrome. Abstract

  98. Neurodevelopmental Disorders Caused by De Novo Variants in KCNB1 Genotypes and Phenotypes. JAMA Neurol. 2017 10 01; 74(10):1228-1236. View Neurodevelopmental Disorders Caused by De Novo Variants in KCNB1 Genotypes and Phenotypes. Abstract

  99. 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 Deficiency of WARS2, encoding mitochondrial tryptophanyl tRNA synthetase, causes severe infantile onset leukoencephalopathy. Abstract

  100. Autism spectrum disorder and epileptic encephalopathy: common causes, many questions. J Neurodev Disord. 2017; 9:23. View Autism spectrum disorder and epileptic encephalopathy: common causes, many questions. Abstract

  101. 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 Increased Survival and Partly Preserved Cognition in a Patient With ACO2-Related Disease Secondary to a Novel Variant. Abstract

  102. Evaluation of QTc in Rett syndrome: Correlation with age, severity, and genotype. Am J Med Genet A. 2017 Jun; 173(6):1495-1501. View Evaluation of QTc in Rett syndrome: Correlation with age, severity, and genotype. Abstract

  103. Behavioral and psychiatric manifestations in Cornelia de Lange syndrome. Curr Opin Psychiatry. 2017 Mar; 30(2):92-96. View Behavioral and psychiatric manifestations in Cornelia de Lange syndrome. Abstract

  104. 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 Cornelia de Lange syndrome and molecular implications of the cohesin complex: Abstracts from the 7th biennial scientific and educational symposium 2016. Abstract

  105. Epileptic Encephalopathy Due to BRAT1 Pathogenic Variants. Pediatr Neurol Briefs. 2016 Dec; 30(12):45. View Epileptic Encephalopathy Due to BRAT1 Pathogenic Variants. Abstract

  106. 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 Further evidence that de novo missense and truncating variants in ZBTB18 cause intellectual disability with variable features. Abstract

  107. Update on Leukodystrophies: A Historical Perspective and Adapted Definition. Neuropediatrics. 2016 Dec; 47(6):349-354. View Update on Leukodystrophies: A Historical Perspective and Adapted Definition. Abstract

  108. BRAT1 mutations present with a spectrum of clinical severity. Am J Med Genet A. 2016 09; 170(9):2265-73. View BRAT1 mutations present with a spectrum of clinical severity. Abstract

  109. Loss-of-function variants in HIVEP2 are a cause of intellectual disability. Eur J Hum Genet. 2016 Apr; 24(4):556-61. View Loss-of-function variants in HIVEP2 are a cause of intellectual disability. Abstract

  110. 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 Clinical, developmental and molecular update on Cornelia de Lange syndrome and the cohesin complex: abstracts from the 2014 Scientific and Educational Symposium. Abstract

  111. ELP2 is a novel gene implicated in neurodevelopmental disabilities. Am J Med Genet A. 2015 Jun; 167(6):1391-5. View ELP2 is a novel gene implicated in neurodevelopmental disabilities. Abstract

  112. 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 Genetic findings in obsessive-compulsive disorder connect to brain-derived neutrophic factor and mammalian target of rapamycin pathways: implications for drug development. Abstract

  113. Clinical whole exome sequencing in child neurology practice. Ann Neurol. 2014 Oct; 76(4):473-83. View Clinical whole exome sequencing in child neurology practice. Abstract

  114. A novel variant in GABRB2 associated with intellectual disability and epilepsy. Am J Med Genet A. 2014 Nov; 164A(11):2914-21. View A novel variant in GABRB2 associated with intellectual disability and epilepsy. Abstract

  115. Early neurodevelopmental screening in tuberous sclerosis complex: a potential window of opportunity. Pediatr Neurol. 2014 Sep; 51(3):398-402. View Early neurodevelopmental screening in tuberous sclerosis complex: a potential window of opportunity. Abstract

  116. Autism traits in children and adolescents with Cornelia de Lange syndrome. Am J Med Genet A. 2014 Jun; 164A(6):1400-10. View Autism traits in children and adolescents with Cornelia de Lange syndrome. Abstract

  117. 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 Role of probiotics on gut permeability and endotoxemia in patients with acute pancreatitis: a double-blind randomized controlled trial. Abstract

  118. SETBP1 Haploinsufficiency Disorder. GeneReviews®. 1993. View SETBP1 Haploinsufficiency Disorder Abstract

  119. Alexander Disease. GeneReviews®. 1993. View Alexander Disease Abstract

1 Boston Children's Hospital | Education

Medical School

Harvard School of Dental Medicine

Boston, MA

Residency

The Ohio State University/Nationwide Children’s Hospital

Columbus, OH

1 Boston Children's Hospital | Publications

1 Boston Children's Hospital | Education

Medical School

Eastern Virginia Medical School

Norfolk, VA

Residency

Boston Combined Residency Program (BCRP)

Boston, MA

1 Boston Children's Hospital | Publications

1 Boston Children's Hospital | Education

Undergraduate School

Middlebury College

1998, Middlebury, VT

Medical School

Thomas Jefferson University

2003, Philadelphia, PA

Internship

Pediatrics

Brown University

2004, Providence, RI

Residency

Pediatrics

Brown University

2006, Providence, RI

Fellowship

Neonatology

University of Washington

2009, Seattle, WA

1 Boston Children's Hospital | Education

Undergraduate School

Harvard College

2005, Cambridge, MA

Graduate School

Harvard Kennedy School of Government

2011, Cambridge, MA

Medical School

Mount Sinai School of Medicine

2011, New York, NY

Internship

Boston Combined Residency Program (BCRP)

2011, Boston, MA

Residency

Boston Combined Residency Program (BCRP)

2014, Boston, MA

Fellowship

General Academic Pediatric

Boston Children's Hospital

2017, Boston, MA

1 Boston Children's Hospital | Publications

1 Boston Children's Hospital | Education

Undergraduate School

Bowdoin College

Brunswick, ME, 2006

Medical School

Yale School of Medicine

2012, New Haven, CT

Residency

Boston Combined Residency Program (BCRP)

2015, Boston, MA

1 Boston Children's Hospital | Publications

1 Boston Children's Hospital | Education

Medical School

University of Kansas

2000, Kansas City, KS

Residency

Internal Medicine/Pediatrics

West Virginia University

2004, Morgantown, WV

Fellowship

Pediatric Critical Care

Boston Children's Hospital

2007, Boston, MA

1 Boston Children's Hospital | Publications

1 Boston Children's Hospital | Education

Undergraduate School

Bangalore University

1994, Bangalore, India

Medical School

Royal College of Pediatrics and Child Health

1999, London, United Kingdom

Residency

Pediatrics

St. John's Hospital and Medical Center

Detroit, MI

Fellowship

Pediatric Endocrinology

Boston Children's Hospital

2007, Boston, MA

1 Boston Children's Hospital | Publications

1 Boston Children's Hospital | Education

Undergraduate School

Morehouse College

Atlanta, GA

Graduate School

The Rockefeller University

New York, NY

Medical School

Weill Cornell Medical College

New York, NY

Internship

Lucile Packard Children's Hospital

Palo Alto, CA

Residency

Lucile Packard Children's Hospital

Palo Alto, CA

Fellowship

Gastroenterology, Hepatology, and Nutrition Fellowship

Boston Children's Hospital

Boston, MA

1 Boston Children's Hospital | Publications

1 Boston Children's Hospital | Education

Undergraduate School

Wake Forest University

2009, Winston-Salem, NC

Medical School

University of Louisville School of Medicine

2013, Louisville, KY

Residency

Pediatrics

Baylor College of Medicine

2015, Houston, TX

Residency

Child Neurology

Baylor College of Medicine

2018, Houston, TX

Fellowship

Sleep Medicine

Perelman School of Medicine at University of Pennsylvania

2019, Philadelphia, PA

Fellowship

Epilepsy

Children's Hospital of Philadelphia

2020, Philadelphia, PA

1 Boston Children's Hospital | Publications

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