Lance Rodan

Publications

1. Basic helix-loop-helix transcription factor BHLHE22 monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, tone and movement abnormalities. medRxiv. 2024 Dec 17. View Abstract
2. Telehealth Is Effective in the Evaluation of Individuals With Undiagnosed Rare Disorders: An Undiagnosed Diseases Network Study. Am J Med Genet A. 2024 Dec 04; e63956. View Abstract
3. 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
4. Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a severe developmental disorder spectrum. Genet Med. 2025 Jan; 27(1):101273. View Abstract
5. De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome. Nature. 2024 Aug; 632(8026):832-840. View Abstract
6. Diagnostic Yield of CSF Testing in Infants for Disorders of Biogenic Amine Neurotransmitter Metabolism. Neurology. 2024 May; 102(9):e209300. View Abstract
7. De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders. medRxiv. 2024 Apr 09. View Abstract
8. Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disorders. medRxiv. 2024 Feb 13. View Abstract
9. A de novo missense variant in EZH1 associated with developmental delay exhibits functional deficits in Drosophila melanogaster. Genetics. 2023 08 09; 224(4). View Abstract
10. De novo missense variants in phosphatidylinositol kinase PIP5KI? underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling. Am J Hum Genet. 2023 08 03; 110(8):1377-1393. View Abstract
11. Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders. Nat Commun. 2023 07 11; 14(1):4109. View Abstract
12. A de novo missense variant in EZH1 associated with developmental delay exhibits functional deficits in Drosophila melanogaster. medRxiv. 2023 Feb 03. View Abstract
13. Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype. Am J Hum Genet. 2023 02 02; 110(2):215-227. View Abstract
14. Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities. Genet Med. 2023 01; 25(1):135-142. View Abstract
15. The recurrent de novo c.2011C>T missense variant in MTSS2 causes syndromic intellectual disability. Am J Hum Genet. 2022 Nov 03; 109(11):2092. View Abstract
16. SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidance. Hum Mol Genet. 2022 09 29; 31(19):3325-3340. View Abstract
17. The recurrent de novo c.2011C>T missense variant in MTSS2 causes syndromic intellectual disability. Am J Hum Genet. 2022 10 06; 109(10):1923-1931. View Abstract
18. Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly. Am J Hum Genet. 2022 10 06; 109(10):1909-1922. View Abstract
19. Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis. Brain. 2022 08 27; 145(8):2687-2703. View Abstract
20. Expansion of the clinical and neuroimaging spectrum associated with NDUFS8-related disorder. JIMD Rep. 2022 Sep; 63(5):391-399. View Abstract
21. The ClinGen Brain Malformation Variant Curation Expert Panel: Rules for somatic variants in AKT3, MTOR, PIK3CA, and PIK3R2. Genet Med. 2022 11; 24(11):2240-2248. View Abstract
22. Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders. Am J Med Genet A. 2022 09; 188(9):2750-2759. View Abstract
23. Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome. Am J Hum Genet. 2022 04 07; 109(4):601-617. View Abstract
24. Novel CAPN1 missense variants in complex hereditary spastic paraplegia with early-onset psychosis. Ann Clin Transl Neurol. 2022 04; 9(4):570-576. View Abstract
25. Mendelian etiologies identified with whole exome sequencing in cerebral palsy. Ann Clin Transl Neurol. 2022 02; 9(2):193-205. View Abstract
26. Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss. Am J Hum Genet. 2021 10 07; 108(10):2006-2016. View Abstract
27. Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations. Genet Med. 2021 Oct; 23(10):2016. View Abstract
28. O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum. J Med Genet. 2022 07; 59(7):697-705. View Abstract
29. Pathogenic MAST3 Variants in the STK Domain Are Associated with Epilepsy. Ann Neurol. 2021 08; 90(2):274-284. View Abstract
30. CHEDDA syndrome is an underrecognized neurodevelopmental disorder with a highly restricted ATN1 mutation spectrum. Clin Genet. 2021 10; 100(4):468-477. View Abstract
31. Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations. Genet Med. 2021 10; 23(10):1922-1932. View Abstract
32. De novo variants in TCF7L2 are associated with a syndromic neurodevelopmental disorder. Am J Med Genet A. 2021 08; 185(8):2384-2390. View Abstract
33. Mutations causing Lopes-Maciel-Rodan syndrome are huntingtin hypomorphs. Hum Mol Genet. 2021 04 26; 30(3-4):135-148. View Abstract
34. Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior. Genet Med. 2021 06; 23(6):1028-1040. View Abstract
35. Author Correction: Mutations disrupting neuritogenesis genes confer risk for cerebral palsy. Nat Genet. 2021 Mar; 53(3):412. View Abstract
36. Medulloblastoma in the setting of megalencephaly polymicrogyria polydactyly hydrocephalus. Am J Med Genet A. 2021 05; 185(5):1614-1618. View Abstract
37. RCL1 copy number variants are associated with a range of neuropsychiatric phenotypes. Mol Psychiatry. 2021 05; 26(5):1706-1718. View Abstract
38. Novel variants in the stem cell niche factor WNT2B define the disease phenotype as a congenital enteropathy with ocular dysgenesis. Eur J Hum Genet. 2021 06; 29(6):998-1007. View Abstract
39. Uridine-responsive epileptic encephalopathy due to inherited variants in CAD: A Tale of Two Siblings. Ann Clin Transl Neurol. 2021 03; 8(3):716-722. View Abstract
40. FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability. Epilepsia. 2021 01; 62(1):e13-e21. View Abstract
41. BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms. Am J Hum Genet. 2020 12 03; 107(6):1096-1112. View Abstract
42. Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical Defects. Am J Hum Genet. 2020 12 03; 107(6):1170-1177. View Abstract
43. Homozygous deletion of 21q22.2 in a patient with hypotonia, developmental delay, cortical visual impairment, and retinopathy. Am J Med Genet A. 2021 02; 185(2):555-560. View Abstract
44. Heterozygous de novo variants in CSNK1G1 are associated with syndromic developmental delay and autism spectrum disorder. Clin Genet. 2020 12; 98(6):571-576. View Abstract
45. Polymicrogyria is Associated With Pathogenic Variants in PTEN. Ann Neurol. 2020 12; 88(6):1153-1164. View Abstract
46. Mutations disrupting neuritogenesis genes confer risk for cerebral palsy. Nat Genet. 2020 10; 52(10):1046-1056. View Abstract
47. L-arginine effects on cerebrovascular reactivity, perfusion and neurovascular coupling in MELAS (mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes) syndrome. PLoS One. 2020; 15(9):e0238224. View Abstract
48. The clinical-phenotype continuum in DYNC1H1-related disorders-genomic profiling and proposal for a novel classification. J Hum Genet. 2020 Nov; 65(11):1003-1017. View Abstract
49. Untargeted metabolomics as an unbiased approach to the diagnosis of inborn errors of metabolism of the non-oxidative branch of the pentose phosphate pathway. Mol Genet Metab. 2020 Sep - Oct; 131(1-2):147-154. View Abstract
50. Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy. Am J Hum Genet. 2020 04 02; 106(4):484-495. View Abstract
51. Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus. Genet Med. 2020 06; 22(6):1061-1068. View Abstract
52. Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy. Nat Commun. 2020 01 30; 11(1):595. View Abstract
53. De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder. Genet Med. 2020 03; 22(3):538-546. View Abstract
54. Biallelic mutation of FBXL7 suggests a novel form of Hennekam syndrome. Am J Med Genet A. 2020 01; 182(1):189-194. View Abstract
55. VAC14 Gene-Related Parkinsonism-Dystonia With Response to Deep Brain Stimulation. Mov Disord Clin Pract. 2019 Jul; 6(6):494-497. View Abstract
56. Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy. Am J Hum Genet. 2019 06 06; 104(6):1210-1222. View Abstract
57. Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language. Nat Commun. 2019 May 02; 10(1):2079. View Abstract
58. Novel GABRA2 variants in epileptic encephalopathy and intellectual disability with seizures. Brain. 2019 05 01; 142(5):e15. View Abstract
59. Recurrent SLC1A2 variants cause epilepsy via a dominant negative mechanism. Ann Neurol. 2019 06; 85(6):921-926. View Abstract
60. Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly. Genet Med. 2019 09; 21(9):2043-2058. View Abstract
61. De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias. Am J Hum Genet. 2019 Mar 07; 104(3):562. View Abstract
62. Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language. Nat Commun. 2019 02 15; 10(1):883. View Abstract
63. Gain-of-function variants in the ODC1 gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalities. Am J Med Genet A. 2018 12; 176(12):2554-2560. View Abstract
64. CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language. Nat Commun. 2018 11 05; 9(1):4619. View Abstract
65. De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias. Am J Hum Genet. 2018 11 01; 103(5):666-678. View Abstract
66. 5,10-methenyltetrahydrofolate synthetase deficiency causes a neurometabolic disorder associated with microcephaly, epilepsy, and cerebral hypomyelination. Mol Genet Metab. 2018 09; 125(1-2):118-126. View Abstract
67. Acute Illness Protocol for Urea Cycle Disorders. Pediatr Emerg Care. 2018 Jun; 34(6):e115-e119. View Abstract
68. Serine Deficiency in a Child with Neurological Presentation, Hearing Loss, and Multiple Congenital Anomalies. Clin Chem. 2018 05; 64(5):870-872. View Abstract
69. Recessive mutations in VPS13D cause childhood onset movement disorders. Ann Neurol. 2018 06; 83(6):1089-1095. View Abstract
70. Novel founder intronic variant in SLC39A14 in two families causing Manganism and potential treatment strategies. Mol Genet Metab. 2018 06; 124(2):161-167. View Abstract
71. Transient regional cerebral hypoperfusion during a paroxysmal hemiplegic event in GLUT1 deficiency syndrome. Eur J Paediatr Neurol. 2018 May; 22(3):544-547. View Abstract
72. Defining the phenotypic spectrum of SLC6A1 mutations. Epilepsia. 2018 02; 59(2):389-402. View Abstract
73. Acute Illness Protocol for Maple Syrup Urine Disease. Pediatr Emerg Care. 2018 Jan; 34(1):64-67. View Abstract
74. Characterization of a novel variant in siblings with Asparagine Synthetase Deficiency. Mol Genet Metab. 2018 03; 123(3):317-325. View Abstract
75. The Spectrum of Movement Disorders in Childhood-Onset Lysosomal Storage Diseases. Mov Disord Clin Pract. 2018 Mar-Apr; 5(2):149-155. View Abstract
76. Ethylmalonic Aciduria in an Infant with Neurological and Skin Presentation. Clin Chem. 2017 11; 63(11):1771-1773. View Abstract
77. Liver Failure as the Presentation of Ornithine Transcarbamylase Deficiency in a 13-Month-Old Female. JIMD Rep. 2018; 40:17-22. View Abstract
78. Beta-Ketothiolase Deficiency Presenting with Metabolic Stroke After a Normal Newborn Screen in Two Individuals. JIMD Rep. 2018; 39:45-54. View Abstract
79. Systemic Manifestations in Pyridox(am)ine 5'-Phosphate Oxidase Deficiency. Pediatr Neurol. 2017 Nov; 76:47-53. View Abstract
80. Raised Anion Gap Metabolic Acidosis in a 4-Day-Old Child. Clin Chem. 2017 06; 63(6):1171-1173. View Abstract
81. Acute Illness Protocol for Fatty Acid Oxidation and Carnitine Disorders. Pediatr Emerg Care. 2017 Apr; 33(4):296-301. View Abstract
82. Acute Illness Protocol for Organic Acidemias: Methylmalonic Acidemia and Propionic Acidemia. Pediatr Emerg Care. 2017 Feb; 33(2):142-146. View Abstract
83. A novel neurodevelopmental disorder associated with compound heterozygous variants in the huntingtin gene. Eur J Hum Genet. 2016 12; 24(12):1833. View Abstract
84. De Novo TUBB2A Variant Presenting With Anterior Temporal Pachygyria. J Child Neurol. 2017 01; 32(1):127-131. View Abstract
85. A novel neurodevelopmental disorder associated with compound heterozygous variants in the huntingtin gene. Eur J Hum Genet. 2016 12; 24(12):1826-1827. View Abstract
86. A 10-Month-Old With Intermittent Hypotonia and Paralysis. Pediatrics. 2016 07; 138(1). View Abstract
87. Now You See It, Now You Don't: Unidentified Plasma Amino Acid Peak. Clin Chem. 2016 05; 62(5):781-2. View Abstract
88. N-Acetylcysteine Therapy in an Infant with Transaldolase Deficiency Is Well Tolerated and Associated with Normalization of Alpha Fetoprotein Levels. JIMD Rep. 2017; 31:73-77. View Abstract
89. Treatment of ADCY5-Associated Dystonia, Chorea, and Hyperkinetic Disorders With Deep Brain Stimulation: A Multicenter Case Series. J Child Neurol. 2016 07; 31(8):1027-35. View Abstract
90. Expansion of phenotype and genotypic data in CRB2-related syndrome. Eur J Hum Genet. 2016 10; 24(10):1436-44. View Abstract
91. Co-occurrence of 16p13.11 microdeletion and ring chromosome 20 syndrome. Neurol Genet. 2016 Feb; 2(1):e43. View Abstract
92. De novo truncating variants in the AHDC1 gene encoding the AT-hook DNA-binding motif-containing protein 1 are associated with intellectual disability and developmental delay. Cold Spring Harb Mol Case Stud. 2015 Oct; 1(1):a000562. View Abstract
93. Clinical heterogeneity associated with KCNA1 mutations include cataplexy and nonataxic presentations. Neurogenetics. 2016 Jan; 17(1):11-6. View Abstract
94. Clinical Use of CSF Neurotransmitters. Pediatr Neurol. 2015 Oct; 53(4):277-86. View Abstract
95. L-Arginine Affects Aerobic Capacity and Muscle Metabolism in MELAS (Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke-Like Episodes) Syndrome. PLoS One. 2015; 10(5):e0127066. View Abstract
96. Cerebral hyperperfusion and decreased cerebrovascular reactivity correlate with neurologic disease severity in MELAS. Mitochondrion. 2015 May; 22:66-74. View Abstract
97. Clinical reasoning: a case of abnormal eye movements in an infant: more than meets the eye. Neurology. 2013 Oct 08; 81(15):e112-5. View Abstract
98. Anti-glutamic Acid decarboxylase antibody associated limbic encephalitis in a child: expanding the spectrum of pediatric inflammatory brain diseases. J Child Neurol. 2014 May; 29(5):677-83. View Abstract
99. MR spectroscopy in pediatric Wernicke encephalopathy. Neurology. 2013 Mar 05; 80(10):969. View Abstract
100. Expanding the Spectrum of Methylmalonic Acid-Induced Pallidal Stroke: First Reported Case of Metabolic Globus Pallidus Stroke in Transcobalamin II Deficiency. JIMD Rep. 2013; 11:7-11. View Abstract
101. Reversible splenial lesion syndrome in pediatric systemic lupus erythematosus. J Rheumatol. 2012 Aug; 39(8):1698-9. View Abstract
102. Clinical reasoning: encephalopathy in a 10-year-old boy. Neurology. 2012 Jul 17; 79(3):e12-8. View Abstract
103. Stroke recurrence in children with congenital heart disease. Ann Neurol. 2012 Jul; 72(1):103-11. View Abstract
104. A citywide prehospital protocol increases access to stroke thrombolysis in Toronto. Stroke. 2009 Dec; 40(12):3841-4. View Abstract
105. Seizures during stroke thrombolysis heralding dramatic neurologic recovery. Neurology. 2006 Dec 12; 67(11):2048-9. View Abstract
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