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Genome-scale network model of metabolism and histone acetylation reveals metabolic dependencies of histone deacetylase inhibitors

Genome Biology, 2019-03, Vol.20 (1), p.49-49, Article 49

2019

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Position effects of 22q13 rearrangements on candidate genes in Phelan-McDermid syndrome

PloS one, 2021-07, Vol.16 (7), p.e0253859

2021

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SARS-CoV-2 variant introduction following spring break travel and transmission mitigation strategies

PloS one, 2024-05, Vol.19 (5), p.e0301225

2024

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Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy

Nature communications, 2020-07, Vol.11 (1), p.3698-3698, Article 3698

2020

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Abnormalities in the genes that encode Large Amino Acid Transporters increase the risk of Autism Spectrum Disorder

Molecular genetics & genomic medicine, 2020-01, Vol.8 (1), p.e1036-n/a

2020

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Individuals with SATB2-associated syndrome with and without autism have a recognizable metabolic profile and distinctive cellular energy metabolism alterations

Metabolic brain disease, 2021-06, Vol.36 (5), p.1049-1056

2021

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Genomic characterization of explant tumorgraft models derived from fresh patient tumor tissue

Journal of translational medicine, 2012-06, Vol.10 (1), p.125-125, Article 125

2012

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Characterization of a Clinically and Biologically Defined Subgroup of Patients with Autism Spectrum Disorder and Identification of a Tailored Combination Treatment

Biomedicines, 2024-05, Vol.12 (5), p.991

2024

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A new test for autism spectrum disorder: Metabolic data from different cell types

Data in brief, 2021-12, Vol.39, p.107598-107598, Article 107598

2021

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Bradykinin B2 receptor knockout mice are protected from thrombosis by increased nitric oxide and prostacyclin

Blood, 2006-07, Vol.108 (1), p.192-199

2006

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Gene Expression in Rat Lacrimal Gland Duct Cells Collected Using Laser Capture Microdissection: Evidence for K+ Secretion by Duct Cells

Investigative ophthalmology & visual science, 2006-05, Vol.47 (5), p.1876-1885

2006

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Identification and diagnosis of long COVID-19: A scoping review

Progress in biophysics and molecular biology, 2023-09, Vol.182, p.1-7

2023

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Microfluidic Diffusional Sizing (MDS) Measurements of Secretory Neutralizing Antibody Affinity Against SARS-CoV-2

Annals of biomedical engineering, 2024-06, Vol.52 (6), p.1653-1664

2024

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Functional assessment of homozygous ALDH18A1 variants reveals alterations in amino acid and antioxidant metabolism

Human molecular genetics, 2023-02, Vol.32 (5), p.732-744

2023

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Clinical and functional characterization of germline PIK3CA variants in patients with PIK3CA-related overgrowth spectrum disorders

Human molecular genetics, 2023-04, Vol.32 (9), p.1457-1465

2023

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Genetic and metabolic profiling of individuals with Phelan‐McDermid syndrome presenting with seizures

Clinical genetics, 2022-01, Vol.101 (1), p.87-100

2022

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Constitutive activation of the PI3K‐AKT pathway and cardiovascular abnormalities in an individual with Kosaki overgrowth syndrome

American journal of medical genetics. Part A, 2019-06, Vol.179 (6), p.1047-1052

2019

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Variability in Phelan‐McDermid syndrome: The impact of the PNPLA3 p.I148M polymorphism

Clinical genetics, 2018-12, Vol.94 (6), p.590-591

2018

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Development of a cell-based metabolic test for the identification of individuals with autism spectrum disorder

Research in autism spectrum disorders, 2021-07, Vol.85, p.101790, Article 101790

2021

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Sleep disturbances in Phelan‐McDermid syndrome: Clinical and metabolic profiling of 56 individuals

Clinical genetics, 2023-08, Vol.104 (2), p.198-209

2023

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A distinct X-linked syndrome involving joint contractures, keloids, large optic cup-to-disc ratio, and renal stones results from a filamin A (FLNA) mutation

American journal of medical genetics. Part A, 2016-04, Vol.170A (4), p.881-890

2016

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SARS-CoV-2 variant introduction following spring break travel and transmission mitigation strategies

PloS one, 2024-01, Vol.19 (5)

2024

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Plasma Prekallikrein

Diabetes (New York, N.Y.), 2003-05, Vol.52 (5), p.1215-1221

2003

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Stimulatory effect of cooling tower biocides on amoebae

Applied and Environmental Microbiology, 1993-10, Vol.59 (10), p.3245-3249

1993

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Thrombostatin inhibits induced canine coronary thrombosis

Thrombosis and haemostasis, 1999-09, Vol.82 (3), p.1182-1187

1999

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Genome-scale network model of metabolism and histone acetylation reveals metabolic dependencies of histone deacetylase inhibitors

Position effects of 22q13 rearrangements on candidate genes in Phelan-McDermid syndrome

SARS-CoV-2 variant introduction following spring break travel and transmission mitigation strategies

Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy

Abnormalities in the genes that encode Large Amino Acid Transporters increase the risk of Autism Spectrum Disorder

Individuals with SATB2-associated syndrome with and without autism have a recognizable metabolic profile and distinctive cellular energy metabolism alterations

Genomic characterization of explant tumorgraft models derived from fresh patient tumor tissue

Characterization of a Clinically and Biologically Defined Subgroup of Patients with Autism Spectrum Disorder and Identification of a Tailored Combination Treatment

A new test for autism spectrum disorder: Metabolic data from different cell types

Bradykinin B2 receptor knockout mice are protected from thrombosis by increased nitric oxide and prostacyclin

Gene Expression in Rat Lacrimal Gland Duct Cells Collected Using Laser Capture Microdissection: Evidence for K+ Secretion by Duct Cells

Identification and diagnosis of long COVID-19: A scoping review

Microfluidic Diffusional Sizing (MDS) Measurements of Secretory Neutralizing Antibody Affinity Against SARS-CoV-2

Functional assessment of homozygous ALDH18A1 variants reveals alterations in amino acid and antioxidant metabolism

Clinical and functional characterization of germline PIK3CA variants in patients with PIK3CA-related overgrowth spectrum disorders

Genetic and metabolic profiling of individuals with Phelan‐McDermid syndrome presenting with seizures

Constitutive activation of the PI3K‐AKT pathway and cardiovascular abnormalities in an individual with Kosaki overgrowth syndrome

Variability in Phelan‐McDermid syndrome: The impact of the PNPLA3 p.I148M polymorphism

Development of a cell-based metabolic test for the identification of individuals with autism spectrum disorder

Sleep disturbances in Phelan‐McDermid syndrome: Clinical and metabolic profiling of 56 individuals

A distinct X-linked syndrome involving joint contractures, keloids, large optic cup-to-disc ratio, and renal stones results from a filamin A (FLNA) mutation

SARS-CoV-2 variant introduction following spring break travel and transmission mitigation strategies

Plasma Prekallikrein

Stimulatory effect of cooling tower biocides on amoebae

Thrombostatin inhibits induced canine coronary thrombosis

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