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List of works by Lawrence T Reiter

15q Duplication Syndrome and Related Disorders

scientific article

A Quantitative Electrophysiological Biomarker of Duplication 15q11.2-q13.1 Syndrome

scientific article

A Rare Inherited 15q11.2-q13.1 Interstitial Duplication with Maternal Somatic Mosaicism, Renal Carcinoma, and Autism.

scientific article

A genome-wide enhancer/suppressor screen for Dube3a interacting genes in Drosophila melanogaster

article

A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element.

scientific article published in March 1996

A recurrent de novo missense mutation in UBTF causes developmental neuroregression

scientific article published on 2 January 2018

A recurrent de novo missense mutation in UBTF causes developmental neuroregression.

scientific article published on 13 February 2018

A survey of seizures and current treatments in 15q duplication syndrome

scientific article published on 6 February 2014

Altered Serotonin, Dopamine and Norepinepherine Levels in 15q Duplication and Angelman Syndrome Mouse Models ⬇️

scientific article published on August 16, 2012

Analysis of cerebellar function in Ube3a-deficient mice reveals novel genotype-specific behaviors

scientific article

Antioxidant proteins TSA and PAG interact synergistically with Presenilin to modulate Notch signaling in Drosophila ⬇️

scientific article published on August 6, 2011

Assessment of the Tumorigenic Potential of Spontaneously Immortalized and hTERT-Immortalized Cultured Dental Pulp Stem Cells

scientific article published in June 2015

Characterization of neurons from immortalized dental pulp stem cells for the study of neurogenetic disorders

scientific article

Comprehensive motor testing in Fmr1-KO mice exposes temporal defects in oromotor coordination

scientific article published on 17 October 2011

Culturing and Neuronal Differentiation of Human Dental Pulp Stem Cells.

scientific article published on 11 January 2017

Dental Pulp Stem Cells Model Early Life and Imprinted DNA Methylation Patterns

scientific article published on 29 December 2016

Dental Pulp Stem Cells for the study of Neurogenetic Disorders.

scientific article published on 5 June 2017

Drosophila Ube3a regulates monoamine synthesis by increasing GTP cyclohydrolase I activity via a non-ubiquitin ligase mechanism.

scientific article

Effects of hTERT immortalization on osteogenic and adipogenic differentiation of dental pulp stem cells.

scientific article

Epigenetic regulation of UBE3A and roles in human neurodevelopmental disorders.

scientific article

Etiology of Human Genetic Disease on the Fly.

scientific article published on 15 April 2017

Expression of the Rho-GEF Pbl/ECT2 is regulated by the UBE3A E3 ubiquitin ligase

scientific article published on 11 August 2006

Gene expression analysis of human induced pluripotent stem cell-derived neurons carrying copy number variants of chromosome 15q11-q13.1.

scientific article

Genomic structure and expression of the human heme A:farnesyltransferase (COX10) gene.

scientific article

Glial overexpression of Dube3a causes seizures and synaptic impairments in Drosophila concomitant with down regulation of the Na+/K+ pump ATPα.

scientific article

Human meiotic recombination products revealed by sequencing a hotspot for homologous strand exchange in multiple HNPP deletion patients

scientific article

Localization of mariner DNA transposons in the human genome by PRINS

scientific article

Mechanisms underlying the EEG biomarker in Dup15q syndrome

scientific article published on 03 July 2019

Multisite Semiautomated Clinical Data Repository for Duplication 15q Syndrome: Study Protocol and Early Uses

scientific article published on 18 October 2017

Neuronal overexpression of Ube3a isoform 2 causes behavioral impairments and neuroanatomical pathology relevant to 15q11.2-q13.3 duplication syndrome.

scientific article published in October 2017

Normal social seeking behavior, hypoactivity and reduced exploratory range in a mouse model of Angelman syndrome

scientific article

Proteomic Profiling in Drosophila Reveals Potential Dube3a Regulation of the Actin Cytoskeleton and Neuronal Homeostasis ⬇️

scientific article published on April 23, 2013

Significant transcriptional changes in 15q duplication but not Angelman syndrome deletion stem cell-derived neurons.

scientific article published on 27 January 2018

The Drosophila Gene Sulfateless Modulates Autism-Like Behaviors

scientific article published on 19 June 2019

The Drosophila melanogaster homolog of UBE3A is not imprinted in neurons

scientific article published on 11 August 2016

The Interstitial Duplication 15q11.2‐q13 Syndrome Includes Autism, Mild Facial Anomalies and a Characteristic EEG Signature ⬇️

scientific article published on March 14, 2013

The human COX10 gene is disrupted during homologous recombination between the 24 kb proximal and distal CMT1A-REPs.

scientific article

The role of TORC1 in muscle development in Drosophila

scientific article

Using Drosophila melanogaster to uncover human disease gene function and potential drug target proteins

scientific article

Variation in Dube3a expression affects neurotransmission at the Drosophila neuromuscular junction.

scientific article

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