Catherine Brownstein

Publications

1. Sentiments of Individuals with Interstitial Cystitis/Bladder Pain Syndrome Toward Pentosan Polysulfate Sodium: Infodemiology Study. JMIR Form Res. 2025 Jan 17; 9:e54209. View Abstract
2. Pediatric erythromelalgia from multidisciplinary perspectives: a scoping review. Pediatr Res. 2025 Jan 16. View Abstract
3. 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
4. Familial hypocalciuric hypercalcemia in an infant: diagnosis and management quandaries. J Bone Miner Res. 2024 Sep 26; 39(10):1406-1411. View Abstract
5. Cell-type-specific effects of autism-associated 15q duplication syndrome in the human brain. Am J Hum Genet. 2024 Aug 08; 111(8):1544-1558. View Abstract
6. Cell-type-specific effects of autism-associated chromosome 15q11.2-13.1 duplications in human brain. bioRxiv. 2024 May 22. View Abstract
7. High number of candidate gene variants are identified as disease-causing in a period of 4?years. Am J Med Genet A. 2024 05; 194(5):e63509. View Abstract
8. Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability and autistic features. Hum Mol Genet. 2023 10 04; 32(20):2981-2995. View Abstract
9. Clinical Characterization of Pediatric Erythromelalgia: A Single-Center Case Series. Children (Basel). 2023 Jul 26; 10(8). View Abstract
10. Returning Individual Research Results from Digital Phenotyping in Psychiatry. Am J Bioeth. 2024 Feb; 24(2):69-90. View Abstract
11. Using social media listening to understand barriers to genomic medicine for those living with Ehlers-Danlos syndromes and hypermobility spectrum disorders. Health Expect. 2023 08; 26(4):1524-1535. View Abstract
12. X-linked hypophosphatemia in 4 generations due to an exon 13-15 duplication in PHEX, in the absence of the c.*231A>G variant. Bone. 2023 07; 172:116763. View Abstract
13. Children with Early-Onset Psychosis Have Increased Burden of Rare GRIN2A Variants. Genes (Basel). 2023 03 23; 14(4). View Abstract
14. Reanalysis of clinical exome identifies the second variant in two individuals with recessive disorders. Eur J Hum Genet. 2023 06; 31(6):712-715. View Abstract
15. Genetic Predisposition to Neurological Complications in Patients with COVID-19. Biomolecules. 2023 01 09; 13(1). View Abstract
16. Mendelian Disorders in an Interstitial Cystitis/Bladder Pain Syndrome Cohort. Adv Genet (Hoboken). 2023 Mar; 4(1):2200013. View Abstract
17. Copy Number Variation and Structural Genomic Findings in 116 Cases of Sudden Unexplained Death between 1 and 28 Months of Age. Adv Genet (Hoboken). 2023 Mar; 4(1):2200012. View Abstract
18. 16p13.11 deletion variants associated with neuropsychiatric disorders cause morphological and synaptic changes in induced pluripotent stem cell-derived neurons. Front Psychiatry. 2022; 13:924956. View Abstract
19. Similar Rates of Deleterious Copy Number Variants in Early-Onset Psychosis and Autism Spectrum Disorder. Am J Psychiatry. 2022 11 01; 179(11):853-861. View Abstract
20. The Phenotypic Continuum of ATPLA3-Related Disorders. Neurology. 2022 Jul 18. View Abstract
21. The Phenotypic Continuum of ATP1A3-Related Disorders. Neurology. 2022 10 04; 99(14):e1511-e1526. View Abstract
22. 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
23. Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases. Cell Rep. 2022 03 15; 38(11):110517. View Abstract
24. Mendelian etiologies identified with whole exome sequencing in cerebral palsy. Ann Clin Transl Neurol. 2022 02; 9(2):193-205. View Abstract
25. Genetic Determinants of Sudden Unexpected Death in Pediatrics. Genet Med. 2022 04; 24(4):839-850. View Abstract
26. Optical genome mapping identifies rare structural variations as predisposition factors associated with severe COVID-19. iScience. 2022 Feb 18; 25(2):103760. View Abstract
27. ITSN1: a novel candidate gene involved in autosomal dominant neurodevelopmental disorder spectrum. Eur J Hum Genet. 2022 01; 30(1):111-116. View Abstract
28. Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases. Genome Med. 2021 10 14; 13(1):153. View Abstract
29. A homozygous stop-gain variant in ARHGAP42 is associated with childhood interstitial lung disease, systemic hypertension, and immunological findings. PLoS Genet. 2021 07; 17(7):e1009639. View Abstract
30. Early role for a Na+,K+-ATPase (ATP1A3) in brain development. Proc Natl Acad Sci U S A. 2021 06 22; 118(25). View Abstract
31. A data-driven architecture using natural language processing to improve phenotyping efficiency and accelerate genetic diagnoses of rare disorders. HGG Adv. 2021 Jul; 2(3). View Abstract
32. Underrepresentation of Phenotypic Variability of 16p13.11 Microduplication Syndrome Assessed With an Online Self-Phenotyping Tool (Phenotypr): Cohort Study. J Med Internet Res. 2021 03 16; 23(3):e21023. View Abstract
33. RCL1 copy number variants are associated with a range of neuropsychiatric phenotypes. Mol Psychiatry. 2021 05; 26(5):1706-1718. View Abstract
34. Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome. Am J Med Genet A. 2021 01; 185(1):119-133. View Abstract
35. Current knowledge of SLC6A1-related neurodevelopmental disorders. Brain Commun. 2020; 2(2):fcaa170. View Abstract
36. A de novo BRPF1 variant in a case of Sudden Unexplained Death in Childhood. Eur J Med Genet. 2020 Sep; 63(9):104002. View Abstract
37. Children's rare disease cohorts: an integrative research and clinical genomics initiative. NPJ Genom Med. 2020; 5:29. View Abstract
38. Children's rare disease cohorts: an integrative research and clinical genomics initiative. NPJ Genom Med. 2020 Jul 06; 5(1):29. View Abstract
39. The role of sodium channels in sudden unexpected death in pediatrics. Mol Genet Genomic Med. 2020 08; 8(8):e1309. View Abstract
40. Congenital Heart Defects Due to TAF1 Missense Variants. Circ Genom Precis Med. 2020 06; 13(3):e002843. View Abstract
41. A novel missense mutation in TFAP2B associated with Char syndrome and central diabetes insipidus. Am J Med Genet A. 2019 07; 179(7):1299-1303. View Abstract
42. Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes. Eur J Hum Genet. 2019 09; 27(9):1398-1405. View Abstract
43. ClinPhen extracts and prioritizes patient phenotypes directly from medical records to expedite genetic disease diagnosis. Genet Med. 2019 07; 21(7):1585-1593. View Abstract
44. De novo variant of TRRAP in a patient with very early onset psychosis in the context of non-verbal learning disability and obsessive-compulsive disorder: a case report. BMC Med Genet. 2018 11 13; 19(1):197. View Abstract
45. De novo variant in KIF26B is associated with pontocerebellar hypoplasia with infantile spinal muscular atrophy. Am J Med Genet A. 2018 12; 176(12):2623-2629. View Abstract
46. De novo ATP1A3 and compound heterozygous NLRP3 mutations in a child with autism spectrum disorder, episodic fatigue and somnolence, and muckle-wells syndrome. Mol Genet Metab Rep. 2018 Sep; 16:23-29. View Abstract
47. Plain-language medical vocabulary for precision diagnosis. Nat Genet. 2018 04; 50(4):474-476. View Abstract
48. SCN1A variants associated with sudden infant death syndrome. Epilepsia. 2018 04; 59(4):e56-e62. View Abstract
49. De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. Am J Hum Genet. 2017 Nov 02; 101(5):768-788. View Abstract
50. Monogenic Hashimoto thyroiditis associated with a variant in the thyroglobulin (TG) gene. J Autoimmun. 2018 01; 86:116-119. View Abstract
51. Homozygous EEF1A2 mutation causes dilated cardiomyopathy, failure to thrive, global developmental delay, epilepsy and early death. Hum Mol Genet. 2017 09 15; 26(18):3545-3552. View Abstract
52. Beta-Ketothiolase Deficiency Presenting with Metabolic Stroke After a Normal Newborn Screen in Two Individuals. JIMD Rep. 2018; 39:45-54. View Abstract
53. AIFM1 mutation presenting with fatal encephalomyopathy and mitochondrial disease in an infant. Cold Spring Harb Mol Case Stud. 2017 03; 3(2):a001560. View Abstract
54. Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy. Muscle Nerve. 2017 05; 55(5):761-765. View Abstract
55. The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States. J Hum Genet. 2017 Feb; 62(2):243-252. View Abstract
56. Hippocampal Formation Maldevelopment and Sudden Unexpected Death across the Pediatric Age Spectrum. J Neuropathol Exp Neurol. 2016 Oct; 75(10):981-997. View Abstract
57. A novel de novo mutation in ATP1A3 and childhood-onset schizophrenia. Cold Spring Harb Mol Case Stud. 2016 Sep; 2(5):a001008. View Abstract
58. SLC6A1 Mutation and Ketogenic Diet in Epilepsy With Myoclonic-Atonic Seizures. Pediatr Neurol. 2016 11; 64:77-79. View Abstract
59. Creating a scalable clinical pharmacogenomics service with automated interpretation and medical record result integration - experience from a pediatric tertiary care facility. J Am Med Inform Assoc. 2017 01; 24(1):74-80. View Abstract
60. Overlapping 16p13.11 deletion and gain of copies variations associated with childhood onset psychosis include genes with mechanistic implications for autism associated pathways: Two case reports. Am J Med Genet A. 2016 May; 170A(5):1165-73. View Abstract
61. The Matchmaker Exchange: a platform for rare disease gene discovery. Hum Mutat. 2015 Oct; 36(10):915-21. View Abstract
62. Clinical heterogeneity associated with KCNA1 mutations include cataplexy and nonataxic presentations. Neurogenetics. 2016 Jan; 17(1):11-6. View Abstract
63. Data sharing in the undiagnosed diseases network. Hum Mutat. 2015 Oct; 36(10):985-8. View Abstract
64. Clinical management of patients with ASXL1 mutations and Bohring-Opitz syndrome, emphasizing the need for Wilms tumor surveillance. Am J Med Genet A. 2015 Sep; 167A(9):2122-31. View Abstract
65. Whole exome sequencing identifies RAI1 mutation in a morbidly obese child diagnosed with ROHHAD syndrome. J Clin Endocrinol Metab. 2015 May; 100(5):1723-30. View Abstract
66. Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy. J Clin Invest. 2015 Jan; 125(1):456-7. View Abstract
67. Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy. J Clin Invest. 2014 Nov; 124(11):4693-708. View Abstract
68. An assessment of clinician and researcher needs for support in the era of genomic medicine. Per Med. 2014 Aug; 11(6):569-579. View Abstract
69. An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge. Genome Biol. 2014 Mar 25; 15(3):R53. View Abstract
70. Misinterpretation of TPMT by a DTC genetic testing company. Clin Pharmacol Ther. 2014 Jun; 95(6):598-600. View Abstract
71. Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy. Am J Hum Genet. 2013 Dec 05; 93(6):1108-17. View Abstract
72. Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities - support for the role of K(ATP) channels in this condition. Eur J Med Genet. 2013 Dec; 56(12):678-82. View Abstract
73. Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy. Am J Hum Genet. 2013 Jul 11; 93(1):6-18. View Abstract
74. Development of a scalable pharmacogenomic clinical decision support service. AMIA Jt Summits Transl Sci Proc. 2013; 2013:60. View Abstract
75. Perceived benefits of sharing health data between people with epilepsy on an online platform. Epilepsy Behav. 2012 Jan; 23(1):16-23. View Abstract
76. Potential for electronic health records and online social networking to redefine medical research. Clin Chem. 2011 Feb; 57(2):196-204. View Abstract
77. The potential research impact of patient reported outcomes on osteogenesis imperfecta. Clin Orthop Relat Res. 2010 Oct; 468(10):2581-5. View Abstract
78. Concordance between site of onset and limb dominance in amyotrophic lateral sclerosis. J Neurol Neurosurg Psychiatry. 2011 Aug; 82(8):853-4. View Abstract
79. Sharing health data for better outcomes on PatientsLikeMe. J Med Internet Res. 2010 Jun 14; 12(2):e19. View Abstract
80. Increased bone volume and correction of HYP mouse hypophosphatemia in the Klotho/HYP mouse. Endocrinology. 2010 Feb; 151(2):492-501. View Abstract
81. The power of social networking in medicine. Nat Biotechnol. 2009 Oct; 27(10):888-90. View Abstract
82. A translocation causing increased alpha-klotho level results in hypophosphatemic rickets and hyperparathyroidism. Proc Natl Acad Sci U S A. 2008 Mar 04; 105(9):3455-60. View Abstract
83. Estimating excess mortality in post-invasion Iraq. N Engl J Med. 2008 Jan 31; 358(5):445-7. View Abstract
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