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1
STIGMA: Single-cell tissue-specific gene prioritization using machine learning
STIGMA: Single-cell tissue-specific gene prioritization using machine learning
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STIGMA: Single-cell tissue-specific gene prioritization using machine learning

American journal of human genetics, 2024-02, Vol.111 (2), p.338-349 [Peer Reviewed Journal]

2023 The Authors ;Copyright © 2023 The Authors. Published by Elsevier Inc. All rights reserved. ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2023.12.011 ;PMID: 38228144

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2
High-throughput transcriptome analyses from ASPIRO, a phase 1/2/3 study of gene replacement therapy for X-linked myotubular myopathy
High-throughput transcriptome analyses from ASPIRO, a phase 1/2/3 study of gene replacement therapy for X-linked myotubular myopathy
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High-throughput transcriptome analyses from ASPIRO, a phase 1/2/3 study of gene replacement therapy for X-linked myotubular myopathy

American journal of human genetics, 2023-10, Vol.110 (10), p.1648-1660 [Peer Reviewed Journal]

2023 American Society of Human Genetics ;Copyright © 2023 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. ;2023 American Society of Human Genetics. 2023 American Society of Human Genetics ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2023.08.008 ;PMID: 37673065

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3
Dysregulated metabolism underpins Zika-virus-infection-associated impairment in fetal development
Dysregulated metabolism underpins Zika-virus-infection-associated impairment in fetal development
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Dysregulated metabolism underpins Zika-virus-infection-associated impairment in fetal development

Cell reports (Cambridge), 2021-12, Vol.37 (11), p.110118-110118, Article 110118 [Peer Reviewed Journal]

2021 The Authors ;Copyright © 2021 The Authors. Published by Elsevier Inc. All rights reserved. ;ISSN: 2211-1247 ;EISSN: 2211-1247 ;DOI: 10.1016/j.celrep.2021.110118 ;PMID: 34910902

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4
Locus revealed: Painlessness via loss of Na V 1.7 at central terminals of sensory neurons
Locus revealed: Painlessness via loss of Na V 1.7 at central terminals of sensory neurons
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Locus revealed: Painlessness via loss of Na V 1.7 at central terminals of sensory neurons

Neuron (Cambridge, Mass.), 2021-05, Vol.109 (9), p.1413 [Peer Reviewed Journal]

Copyright © 2021 Elsevier Inc. All rights reserved. ;2021. Elsevier Inc. ;ISSN: 0896-6273 ;EISSN: 1097-4199 ;DOI: 10.1016/j.neuron.2021.04.011 ;PMID: 33957067

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5
Spatiotemporal analysis of human intestinal development at single-cell resolution
Spatiotemporal analysis of human intestinal development at single-cell resolution
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Spatiotemporal analysis of human intestinal development at single-cell resolution

Cell, 2021-02, Vol.184 (3), p.810-826.e23 [Peer Reviewed Journal]

2021 The Authors ;Copyright © 2021 The Authors. Published by Elsevier Inc. All rights reserved. ;2021 The Authors 2021 ;ISSN: 0092-8674 ;EISSN: 1097-4172 ;DOI: 10.1016/j.cell.2020.12.016 ;PMID: 33406409

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6
Splicing Control of Pontocerebellar Development
Splicing Control of Pontocerebellar Development
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Splicing Control of Pontocerebellar Development

Neuron (Cambridge, Mass.), 2021-01, Vol.109 (2), p.191-192 [Peer Reviewed Journal]

Copyright © 2020. Published by Elsevier Inc. ;Copyright Elsevier Limited Jan 20, 2021 ;ISSN: 0896-6273 ;EISSN: 1097-4199 ;DOI: 10.1016/j.neuron.2020.12.021 ;PMID: 33476558

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7
Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly
Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly
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Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly

Neuron (Cambridge, Mass.), 2021-01, Vol.109 (2), p.241-256.e9 [Peer Reviewed Journal]

2020 Elsevier Inc. ;Copyright © 2020 Elsevier Inc. All rights reserved. ;2020. Elsevier Inc. ;ISSN: 0896-6273 ;EISSN: 1097-4199 ;DOI: 10.1016/j.neuron.2020.10.035 ;PMID: 33220177

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8
Reengineering an Antiarrhythmic Drug Using Patient hiPSC Cardiomyocytes to Improve Therapeutic Potential and Reduce Toxicity
Reengineering an Antiarrhythmic Drug Using Patient hiPSC Cardiomyocytes to Improve Therapeutic Potential and Reduce Toxicity
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Reengineering an Antiarrhythmic Drug Using Patient hiPSC Cardiomyocytes to Improve Therapeutic Potential and Reduce Toxicity

Cell stem cell, 2020-11, Vol.27 (5), p.813-821.e6 [Peer Reviewed Journal]

2020 Elsevier Inc. ;Copyright © 2020 Elsevier Inc. All rights reserved. ;ISSN: 1934-5909 ;EISSN: 1875-9777 ;DOI: 10.1016/j.stem.2020.08.003 ;PMID: 32931730

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9
Immunological Lessons from Respiratory Syncytial Virus Vaccine Development
Immunological Lessons from Respiratory Syncytial Virus Vaccine Development
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Immunological Lessons from Respiratory Syncytial Virus Vaccine Development

Immunity (Cambridge, Mass.), 2019-09, Vol.51 (3), p.429-442 [Peer Reviewed Journal]

2019 ;Published by Elsevier Inc. ;Copyright Elsevier Limited Sep 17, 2019 ;ISSN: 1074-7613 ;EISSN: 1097-4180 ;DOI: 10.1016/j.immuni.2019.08.007 ;PMID: 31533056

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10
The Iceberg under Water: Unexplored Complexity of Chromoanagenesis in Congenital Disorders
The Iceberg under Water: Unexplored Complexity of Chromoanagenesis in Congenital Disorders
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The Iceberg under Water: Unexplored Complexity of Chromoanagenesis in Congenital Disorders

American journal of human genetics, 2019-04, Vol.104 (4), p.565-577 [Peer Reviewed Journal]

2019 American Society of Human Genetics ;Copyright © 2019 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. ;2019 American Society of Human Genetics. 2019 American Society of Human Genetics ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2019.02.024 ;PMID: 30951674

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11
Zika Virus Protease Cleavage of Host Protein Septin-2 Mediates Mitotic Defects in Neural Progenitors
Zika Virus Protease Cleavage of Host Protein Septin-2 Mediates Mitotic Defects in Neural Progenitors
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Zika Virus Protease Cleavage of Host Protein Septin-2 Mediates Mitotic Defects in Neural Progenitors

Neuron (Cambridge, Mass.), 2019-03, Vol.101 (6), p.1089-1098.e4 [Peer Reviewed Journal]

2019 ;Copyright © 2019. Published by Elsevier Inc. ;Copyright Elsevier Limited Mar 20, 2019 ;ISSN: 0896-6273 ;EISSN: 1097-4199 ;DOI: 10.1016/j.neuron.2019.01.010 ;PMID: 30713029

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12
Defining the Functional Role of Na V 1.7 in Human Nociception
Defining the Functional Role of Na V 1.7 in Human Nociception
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Defining the Functional Role of Na V 1.7 in Human Nociception

Neuron (Cambridge, Mass.), 2019-03, Vol.101 (5), p.905 [Peer Reviewed Journal]

Copyright © 2019 The Author(s). Published by Elsevier Inc. All rights reserved. ;2019. The Author(s) ;ISSN: 0896-6273 ;EISSN: 1097-4199 ;DOI: 10.1016/j.neuron.2019.01.047 ;PMID: 30795902

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13
Mutations in Chromatin Modifier and Ephrin Signaling Genes in Vein of Galen Malformation
Mutations in Chromatin Modifier and Ephrin Signaling Genes in Vein of Galen Malformation
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Mutations in Chromatin Modifier and Ephrin Signaling Genes in Vein of Galen Malformation

Neuron (Cambridge, Mass.), 2019-02, Vol.101 (3), p.429-443.e4 [Peer Reviewed Journal]

2018 Elsevier Inc. ;Copyright © 2018 Elsevier Inc. All rights reserved. ;2018. Elsevier Inc. ;ISSN: 0896-6273 ;EISSN: 1097-4199 ;DOI: 10.1016/j.neuron.2018.11.041 ;PMID: 30578106

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14
The Iceberg under Water:Unexplored Complexity of Chromoanagenesis in Congenital Disorders
The Iceberg under Water:Unexplored Complexity of Chromoanagenesis in Congenital Disorders
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The Iceberg under Water:Unexplored Complexity of Chromoanagenesis in Congenital Disorders

ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2019.02.024

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15
Chd2 Is Necessary for Neural Circuit Development and Long-Term Memory
Chd2 Is Necessary for Neural Circuit Development and Long-Term Memory
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Chd2 Is Necessary for Neural Circuit Development and Long-Term Memory

Neuron (Cambridge, Mass.), 2018-12, Vol.100 (5), p.1180-1193.e6 [Peer Reviewed Journal]

2018 Elsevier Inc. ;Copyright © 2018 Elsevier Inc. All rights reserved. ;Copyright Elsevier Limited Dec 5, 2018 ;ISSN: 0896-6273 ;EISSN: 1097-4199 ;DOI: 10.1016/j.neuron.2018.09.049 ;PMID: 30344048

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16
NCX-Mediated Subcellular Ca2+ Dynamics Underlying Early Afterdepolarizations in LQT2 Cardiomyocytes
NCX-Mediated Subcellular Ca2+ Dynamics Underlying Early Afterdepolarizations in LQT2 Cardiomyocytes
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NCX-Mediated Subcellular Ca2+ Dynamics Underlying Early Afterdepolarizations in LQT2 Cardiomyocytes

Biophysical journal, 2018-09, Vol.115 (6), p.1019-1032 [Peer Reviewed Journal]

2018 ;2018. 2018 ;ISSN: 0006-3495 ;EISSN: 1542-0086 ;DOI: 10.1016/j.bpj.2018.08.004 ;PMID: 30173888

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17
Interferons and Proinflammatory Cytokines in Pregnancy and Fetal Development
Interferons and Proinflammatory Cytokines in Pregnancy and Fetal Development
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Interferons and Proinflammatory Cytokines in Pregnancy and Fetal Development

Immunity (Cambridge, Mass.), 2018-09, Vol.49 (3), p.397-412 [Peer Reviewed Journal]

2018 Elsevier Inc. ;Copyright © 2018 Elsevier Inc. All rights reserved. ;Copyright Elsevier Limited Sep 18, 2018 ;ISSN: 1074-7613 ;EISSN: 1097-4180 ;DOI: 10.1016/j.immuni.2018.07.017 ;PMID: 30231982

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18
NCX-Mediated Subcellular Ca 2+ Dynamics Underlying Early Afterdepolarizations in LQT2 Cardiomyocytes
NCX-Mediated Subcellular Ca 2+ Dynamics Underlying Early Afterdepolarizations in LQT2 Cardiomyocytes
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NCX-Mediated Subcellular Ca 2+ Dynamics Underlying Early Afterdepolarizations in LQT2 Cardiomyocytes

Biophysical journal, 2018-09, Vol.115 (6), p.1019 [Peer Reviewed Journal]

Copyright © 2018. Published by Elsevier Inc. ;EISSN: 1542-0086 ;PMID: 30173888

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19
Genetics Sheds New Light on Congenital Hydrocephalus Biology
Genetics Sheds New Light on Congenital Hydrocephalus Biology
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Genetics Sheds New Light on Congenital Hydrocephalus Biology

Neuron (Cambridge, Mass.), 2018-07, Vol.99 (2), p.246-247 [Peer Reviewed Journal]

2018 ;Copyright © 2018. Published by Elsevier Inc. ;Copyright Elsevier Limited Jul 25, 2018 ;ISSN: 0896-6273 ;EISSN: 1097-4199 ;DOI: 10.1016/j.neuron.2018.07.008 ;PMID: 30048611

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20
De Novo Mutation in Genes Regulating Neural Stem Cell Fate in Human Congenital Hydrocephalus
De Novo Mutation in Genes Regulating Neural Stem Cell Fate in Human Congenital Hydrocephalus
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De Novo Mutation in Genes Regulating Neural Stem Cell Fate in Human Congenital Hydrocephalus

Neuron (Cambridge, Mass.), 2018-07, Vol.99 (2), p.302-314.e4 [Peer Reviewed Journal]

2018 Elsevier Inc. ;Copyright © 2018 Elsevier Inc. All rights reserved. ;2018. Elsevier Inc. ;ISSN: 0896-6273 ;EISSN: 1097-4199 ;DOI: 10.1016/j.neuron.2018.06.019 ;PMID: 29983323

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Results 1 - 20 of 572  for All Library Resources

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