A. Crouse

发表

Functional characterization and potential therapeutic avenues for variants in the NTRK2 gene causing developmental and epileptic encephalopathies

M. Might, R. Kesterson, D. Wallis, 2021, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Megakaryocytes are a Novel SARS-CoV-2 Infection Target and Risk Factor for Mortality and Multi-Organ Failure

Michael J. Patton, A. Gaggar, Jeremy D. Zucker, 2021, medRxiv.

The precision medicine process for treating rare disease using the artificial intelligence tool mediKanren

William E. Byrd, Michael J. Patton, S. Ramsey, 2022, Frontiers in Artificial Intelligence.

N-of-1 Precision Medicine and Research Oversight

M. Might, Thomas May, A. Crouse, 2019, The American journal of bioethics : AJOB.

Water-soluble tocopherol derivatives inhibit SARS-CoV-2 RNA-dependent RNA polymerase

M. Might, C. M. Petit, A. Steyn, 2021, bioRxiv.

Neurological abnormalities in a knock-in mouse model of Huntington's disease.

R. Albin, W. Jackson, S. Tallaksen-Greene, 2001, Human molecular genetics.

Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain

William E. Byrd, Gabor T. Marth, David R. Murdock, 2020, Genetics in Medicine.

Model organisms contribute to diagnosis and discovery in the undiagnosed diseases network: current state and a future vision

William E. Byrd, Gabor T. Marth, David R. Murdock, 2021, Orphanet Journal of Rare Diseases.

Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases

William E. Byrd, Gabor T. Marth, David R. Murdock, 2021, Genetics in Medicine.

An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

William E. Byrd, Gabor T. Marth, David R. Murdock, 2020, Genetics in Medicine.

Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

William E. Byrd, Mercedes E. Alejandro, Mahshid S. Azamian, 2021, Genetics in Medicine.

Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment

William E. Byrd, Gabor T. Marth, Marni J. Falk, 2023, npj Genomic Medicine.

Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

William E. Byrd, Mercedes E. Alejandro, Mahshid S. Azamian, 2021, Genetics in Medicine.

Verification of somatic CAG repeat expansion by pre-PCR fractionation

P. Detloff, G. Johnson, J. Hunter, 2005, Journal of Neuroscience Methods.

Metformin Use Is Associated With Reduced Mortality in a Diverse Population With COVID-19 and Diabetes

F. Ovalle, M. Might, A. Shalev, 2021, Frontiers in Endocrinology.

Neuronal intranuclear inclusions and neuropil aggregates in Hdh CAG(150) knockin mice

R. Albin, S. Tallaksen-Greene, P. Detloff, 2005, Neuroscience.

Hprt(CAG)146 mice: Age of onset of behavioral abnormalities, time course of neuronal intranuclear inclusion accumulation, neurotransmitter marker alterations, mitochondrial function markers, and susceptibility to 1‐methyl‐4‐phenyl‐1,2,3,6‐tetrahydropyridine

R. Albin, S. Tallaksen-Greene, P. Detloff, 2003, The Journal of comparative neurology.

Circulating SARS-CoV-2+ megakaryocytes are associated with severe viral infection in COVID-19

Michael J. Patton, A. Gaggar, P. Goepfert, 2023, Blood Advances.

Clinical sites of the Undiagnosed Diseases Network: Unique contributions to genomic medicine and science

William E. Byrd, Gabor T. Marth, David R. Murdock, 2020, Genetics in Medicine.

Why rare disease needs precision medicine—and precision medicine needs rare disease

M. Might, A. Crouse, 2022, Cell reports. Medicine.

METFORMIN USE IS ASSOCIATED WITH REDUCED MORTALITY IN A DIVERSE POPULATION WITH COVID-19 AND DIABETES

F. Ovalle, M. Might, A. Shalev, 2020, medRxiv.

Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder.

William E. Byrd, David R. Murdock, Marni J. Falk, 2020, Brain : a journal of neurology.

Bi-allelic variants in INTS11 are associated with a complex neurological disorder.

William E. Byrd, Marni J. Falk, Mahshid S. Azamian, 2023, American journal of human genetics.

Genomics Research with Undiagnosed Children: Ethical Challenges at the Boundaries of Research and Clinical Care.

William E. Byrd, Marni J. Falk, Laurel A. Cobban, 2023, The Journal of pediatrics.

Participation in a national diagnostic research study: assessing the patient experience

William E. Byrd, Gabor T. Marth, Marni J. Falk, 2023, Orphanet Journal of Rare Diseases.

Continuing a search for a diagnosis: the impact of adolescence and family dynamics

William E. Byrd, Marni J. Falk, Mahshid S. Azamian, 2023, Orphanet Journal of Rare Diseases.

De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling.

William E. Byrd, Gabor T. Marth, Marni J. Falk, 2023, American journal of human genetics.

Allele-specific conditional destabilization of glutamine repeat mRNAs.

P. Detloff, A. Crouse, 2005, Gene expression.

HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder.

William E. Byrd, Gabor T. Marth, Marni J. Falk, 2023, American journal of human genetics.

A Primer in Precision Nephrology: Optimizing Outcomes in Kidney Health and Disease through Data-Driven Medicine

M. Might, Pushkala Jayaraman, A. Crouse, 2023, Kidney360.

A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.

Gabor T. Marth, Laurel A. Cobban, Lisa T. Emrick, 2024, American journal of human genetics.