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Rebecca Macintosh

Boston Children's Hospital

18

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253

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Diagnostic Yield of Whole Genome Sequencing After Non-diagnostic Exome Sequencing or Gene Panel in Developmental and Epileptic Encephalopathies.

2021 Neurology
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RLIM Is a Candidate Dosage-Sensitive Gene for Individuals with Varying Duplications of Xq13, Intellectual Disability, and Distinct Facial Features.

2020 American Journal of Human Genetics
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Erratum: De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-progressive Neurocognitive Syndrome (The American Journal of Human Genetics (2019) 104(3) (542–552), (S0002929719300138), (10.1016/j.ajhg.2019.01.013))

2019 American Journal of Human Genetics
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De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome

2019 American Journal of Human Genetics
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Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness

2018 Molecular Genetics & Genomic Medicine
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Reversible Suppression of Lymphoproliferation and Thrombocytopenia with Rapamycin in a Patient with Common Variable Immunodeficiency

2018 Journal of Clinical Immunology
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A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures

2018 Cell
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Genetics of Epileptic Encephalopathies

2017
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A De Novo Mutation in the Sodium-Activated Potassium Channel KCNT2 Alters Ion Selectivity and Causes Epileptic Encephalopathy

2017 Cell Reports
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Neuronal deficiency of ARV1 causes an autosomal recessive epileptic encephalopathy

2016 Human Molecular Genetics
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