M. Amaral

发表

The Therapeutic Odyssey: Positioning Genomic Sequencing in the Search for a Child’s Best Possible Life

R. Myers, G. Barsh, G. Cooper, 2021, AJOB empirical bioethics.

Genomic sequencing identifies secondary findings in a cohort of parent study participants

R. Myers, G. Barsh, G. Cooper, 2017, Genetics in Medicine.

Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium.

Matthew S. Lebo, Aleksandar Milosavljevic, Heidi L Rehm, 2016, American journal of human genetics.

Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium.

Matthew S. Lebo, Aleksandar Milosavljevic, Heidi L Rehm, 2016, American journal of human genetics.

Non-Coding and Loss-of-Function Coding Variants in TET2 are Associated with Multiple Neurodegenerative Diseases.

Brittany N. Lasseigne, R. Myers, B. Miller, 2020, American journal of human genetics.

Heterozygous variants in CTR9, which encodes a major component of the PAF1 complex, are associated with a neurodevelopmental disorder.

A. V. Vulto-van Silfhout, S. Antonarakis, B. Asselbergh, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

TRPC Channels as Novel Effectors of BDNF Signaling: Potential Implications for Rett Syndrome

M. Amaral, L. Pozzo-Miller, Christopher A. Chapleau, 2008 .

Erratum: Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium (American Journal of Human Genetics (2016) 98(6) (1067–1076) (S0002929716300593) (10.1016/j.ajhg.2016.03.024))

Robert C. Green, Michael O. Dorschner, Matthew S. Lebo, 2016 .

Erratum: Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine (American Journal of Human Genetics (2016) 98(6) (1067–1076) (S0002929716301069) (10.1016/j.ajhg.2016.04.011))

Sara Chandros Hull, Robert C. Green, Sean D. Mooney, 2016 .

Child Neurology: Spastic paraparesis and dystonia with a novel ADCY5 mutation

G. Cooper, B. Korf, D. Standaert, 2019, Neurology.

Non-Coding and Loss-of-Function Coding Variants in TET2 are Associated with Multiple Neurodegenerative Diseases

Alzheimer's Disease Neuroimaging Initiative, Brittany N. Lasseigne, R. Myers, 2019, bioRxiv.

Expression of Voltage-Gated Chloride Channels in Human Glioma Cells

H. Sontheimer, M. Amaral, S. Lyons, 2003, The Journal of Neuroscience.

On the Role of Neurotrophins in Dendritic Calcium Signaling

M. Amaral, L. Pozzo-Miller, 2005 .

Elevations in CA3 Pyramidal Neurons 2+Mossy Fibers Evokes a TRPC3 Current and Ca Activity-Dependent Release of Endogenous BDNF

Marielle Deurloo, E. Levine, Takafumi Inoue, 2015 .

Activity-dependent release of endogenous BDNF from mossy fibers evokes a TRPC3 current and Ca2+ elevations in CA3 pyramidal neurons.

Takafumi Inoue, M. Amaral, L. Pozzo-Miller, 2010, Journal of neurophysiology.

BDNF induces calcium elevations associated with IBDNF, a nonselective cationic current mediated by TRPC channels.

M. Amaral, L. Pozzo-Miller, Lucas Pozzo-Miller, 2007, Journal of neurophysiology.

Hyperforin modulates dendritic spine morphology in hippocampal pyramidal neurons by activating Ca2+‐permeable TRPC6 channels

Wei Li, Takafumi Inoue, C. Harteneck, 2013, Hippocampus.

SYT1-associated neurodevelopmental disorder: a case series

Ingo Borggraefe, Giuseppe Marangi, Yunyun Jiang, 2018, Brain : a journal of neurology.

Systematic reanalysis of genomic data improves quality of variant interpretation

R. Myers, G. Barsh, G. Cooper, 2018, Clinical genetics.

Genomic diagnosis for children with intellectual disability and/or developmental delay

G. Barsh, G. Cooper, K. Bowling, 2017, Genome Medicine.

Genomic diagnosis for children with intellectual disability and/or developmental delay

R. Myers, G. Barsh, G. Cooper, 2016, bioRxiv.

Genome sequencing for early-onset dementia: high diagnostic yield and frequent observation of multiple contributory alleles

Brittany N. Lasseigne, R. Myers, G. Cooper, 2019, bioRxiv.

Genome sequencing as a first-line diagnostic test for hospitalized newborns

G. Barsh, G. Cooper, S. Knight, 2021, medRxiv.

TRPC3 Channels Are Necessary for Brain-Derived Neurotrophic Factor to Activate a Nonselective Cationic Current and to Induce Dendritic Spine Formation

M. Amaral, L. Pozzo-Miller, Lucas Pozzo-Miller, 2007, The Journal of Neuroscience.

Transient receptor potential channels as novel effectors of brain-derived neurotrophic factor signaling: potential implications for Rett syndrome.

M. Amaral, L. Pozzo-Miller, Christopher A. Chapleau, 2007, Pharmacology & therapeutics.

Genome sequencing for early-onset or atypical dementia: high diagnostic yield and frequent observation of multiple contributory alleles

Brittany N. Lasseigne, R. Myers, G. Cooper, 2019, Cold Spring Harbor molecular case studies.

Heterozygous variants that disturb the transcriptional repressor activity of FOXP4 cause a developmental disorder with speech/language delays and multiple congenital abnormalities

W. Chung, H. Brunner, S. Fisher, 2020, Genetics in Medicine.

Genome sequencing as a first-line diagnostic test for hospitalized infants.

G. Barsh, G. Cooper, B. Korf, 2021, Genetics in medicine : official journal of the American College of Medical Genetics.

Pharmacogenetic Predictors of Cannabidiol Response and Tolerability in Treatment‐Resistant Epilepsy

J. Szaflarski, N. Limdi, D. Standaert, 2021, Clinical pharmacology and therapeutics.

Contributions of rare and common variation to early-onset and atypical dementia risk

S. Cooper, D. Geldmacher, E. Roberson, 2023, medRxiv.

TRP-ing down a TRK: A new role for transient receptor potential channels as novel mediators of brain -derived neurotrophic factor actions at both sides of the excitatory synapse

M. Amaral, 2008 .

Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder

Michael F. Wangler, A. Need, S. Levy, 2018, Human molecular genetics.

SYT1-associated neurodevelopmental disorder: a case series

R. Gibbs, S. Boyd, I. Borggraefe, 2018, Brain : a journal of neurology.

Intracellular Ca2+ Stores and Ca2+ Influx Are Both Required for BDNF to Rapidly Increase Quantal Vesicular Transmitter Release

M. Amaral, L. Pozzo-Miller, Lucas Pozzo-Miller, 2012, Neural plasticity.

Genomic sequencing identifies secondary findings in a cohort of parent study participants

R. Myers, G. Barsh, G. Cooper, 2017, bioRxiv.

The dynamics of excitatory synapse formation on dendritic spines.

M. Amaral, L. Pozzo-Miller, Lucas Pozzo-Miller, 2009, Cellscience.

Research Article Intracellular Ca 2+ Stores and Ca 2+ Influx Are Both Required for BDNF to Rapidly Increase Quantal Vesicular Transmitter Release

M. Amaral, L. Pozzo-Miller, 2012 .

Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine.

Matthew S. Lebo, Victoria A. Miller, Jeffrey W. Pennington, 2016, American journal of human genetics.

Contributions of rare and common variation to early-onset and atypical dementia risk

S. Cooper, D. Geldmacher, E. Roberson, 2023, Cold Spring Harbor molecular case studies.