Stanley F Nelson

educated at: Duke University School of Medicine, University of Michigan

occupation: researcher

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Articles 244

Date

Title

Authors

2022-01-19

Loss of IRF2BPL impairs neuronal maintenance through excess Wnt signaling

Paul C Marcogliese, Debdeep Dutta, Zhongyuan Zuo, Thomas A Ravenscroft, Shinya Yamamoto, Matt Might, Kathrin Meyer, Nan Cher Yeo, Hugo J. Bellen, Stanley F Nelson
2021-07-06

One is the loneliest number: genotypic matchmaking using the electronic health record

Melissa Haendel, Lefkothea P Karaviti, Jennefer N Kohler, Gerard Berry, Stanley F Nelson
2020-02-09

Myopathy associated with homozygous PYROXD1 pathogenic variants detected by genome sequencing

Jeremy D Woods, Undiagnosed Diseases Network, Stanley F Nelson
2020-04-01

Correction: GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder

Undiagnosed Diseases Network, Usha Kini, Karen Gripp, Stanley F Nelson
2020-04-06

Genetic characterization and long-term management of severely affected siblings with intellectual developmental disorder with cardiac arrhythmia syndrome

Stanley F Nelson
2020-01-17

GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder

Joel P Mackay, Tyler Mark Pierson, Undiagnosed Diseases Network, Usha Kini, Karen Gripp, Stanley F Nelson
2020-01-17

Ppp1r1b-lncRNA inhibits PRC2 at myogenic regulatory genes to promote cardiac and skeletal muscle development in mouse and human

Marlin Touma, Stanley F Nelson
2020-06-01

Disseminated Coccidioidomycosis Treated with Interferon-γ and Dupilumab

Hane Lee, Manish J. Butte, Sean Fitzwater, Stanley F Nelson
2020-06-12

Gene-environment regulation of chamber-specific maturation during hypoxemic perinatal circulatory transition

Marlin Touma, Stanley F Nelson
2020-06-30

Congenital myasthenic syndrome caused by a frameshift insertion mutation in GFPT1

Szabolcs Szelinger, Chris Balak, Isabelle Schrauwen, Matthew J Huentelman, Steven A Moore, Vinodh Narayanan, S Rangasamy, Stanley F Nelson
2020-08-19

Correction: KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants

Hakon Hakonarson, Sarina G. Kant, Ruth Newbury-Ecob, Louanne Hudgins, Stanley F Nelson
2020-08-20

A well tolerated core needle muscle biopsy process suitable for children and adults

Florian Barthélémy, Jeremy D Woods, Richard T Wang, Jonathan Wanagat, Stanley F Nelson
2020-10-08

Mitchell-Riley syndrome iPSC exhibit reduced pancreatic endoderm differentiation due to an RFX6 mutation

Michael Elsy, Heike Wollmann, Ascia Eskin, Bruno Reversade, Norris Ray Dunn, Stanley F Nelson
2020-10-15

Novel NUDT2 variant causes intellectual disability and polyneuropathy

Frank Diaz, Julian Martinez-agosto, Stanley F Nelson
2019-01-01

Dusp6 is a genetic modifier of growth through enhanced ERK activity

Alexis Demonbreun, Stanley F Nelson
2019-10-14

Diagnostic utility of transcriptome sequencing for rare Mendelian diseases

Hane Lee, Lee-Kai Wang, Shirley Nieves-Rodriguez, Jeremy D Woods, Manish J. Butte, Janet Sinsheimer, Stanley F Nelson, Undiagnosed Diseases Network, Richard T Wang, Emilie D Douine, Patrick Allard
2019-01-01

Evidence-Based Consensus and Systematic Review on Reducing the Time to Diagnosis of Duchenne Muscular Dystrophy

Annemieke Aartsma-Rus, Ann Martin, Filippo Buccella, Stanley F Nelson
2019-09-24

Large in-frame 5' deletions in DMD associated with mild Duchenne muscular dystrophy: Two case reports and a review of the literature

Florian Barthélémy, Stanley F Nelson
2019-09-28

Targeting RyR Activity Boosts Antisense Exon 44 and 45 Skipping in Human DMD Skeletal or Cardiac Muscle Culture Models

Florian Barthélémy, Stanley F Nelson
2019-11-06

A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders

Jennifer E. Posey, James R. Lupski, Brent L Fogel, Daniel Geschwind, Michael Geschwind, Richard A Gibbs, Donna Muzny, Jennifer Elizabeth Below, Lauren E Petty, Stanley F Nelson
2019-12-13

Gene-environment regulatory circuits of right ventricular pathology in tetralogy of fallot

Marlin Touma, Stanley F Nelson
2019-04-24

SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals

Domenico Garozzo, Nicola Longo, Christopher C Y Mak, Tyler Mark Pierson, M Elizabeth Ross, Ingrid Scheffer, William B. Dobyns, Mariusz Olczak, Delphine Héron
2018-02-14

Variant in human POFUT1 reduces enzymatic activity and likely causes a recessive microcephaly, global developmental delay with cardiac and vascular features.

Stanley F Nelson
2018-05-01

Calpain 3 and CaMKIIβ signaling are required to induce HSP70 necessary for adaptive muscle growth after atrophy.

Stanley F Nelson
2018-05-22

A homozygous loss-of-function CAMK2A mutation causes growth delay, frequent seizures and severe intellectual disability

Mahmoud A. Pouladi, Poh Hui Chia, Franklin L Zhong, Shinsuke Niwa, Bruno Reversade, Stanley F Nelson
2018-02-13

Repurposing Dantrolene for Long-Term Combination Therapy to Potentiate Antisense-Mediated DMD Exon Skipping in the mdx Mouse.

Rita M. Cantor, Stanley F Nelson
2018-06-13

Calculating the statistical significance of rare variants causal for Mendelian and complex disorders.

Aliz R Rao, Stanley F Nelson
2018-05-16

Correction: U87MG Decoded: The Genomic Sequence of a Cytogenetically Aberrant Human Cancer Cell Line.

Stanley F Nelson
2018-08

IRF2BPL Is Associated with Neurological Phenotypes

Matthew Brush, Christine M. Eng, Melissa Haendel, Ingrid A Holm, Isaac Kohane, Joseph Loscalzo, Teri Manolio, Donna Muzny, John H. Newman, John Postlethwait, Janet Sinsheimer, Monte Westerfield, Paul C Marcogliese, Oğuz Kanca, Steven Callens, Babak Behnam, Patrick Allard, Paul J Coucke, Hugo J. Bellen, David A. Sweetser
2018-10-10

Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease

Isaac Kohane, Joseph Loscalzo, John Postlethwait, Christine M. Eng, Matthew T Wheeler, David A. Sweetser, Stanley F Nelson
2018-05-15

Loss-of-function in IRF2BPL is associated with neurological phenotypes

Dimitri Hemelsoet, Stanley F Nelson
2018-09-01

IRF2BPL Is Associated with Neurological Phenotypes

Paul C Marcogliese, Hugo J. Bellen, Undiagnosed Diseases Network, Stanley F Nelson

Human - wd:Q90679187

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