John P. Johnson

Lawrence Livermore National Laboratory — United States

Biochemistry, Genetics and Molecular Biology · Life Sciences

55h-index10.5kcitations197works0.52yr avg
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Research Topics

Ion Transport and Channel Regulation(51), Ion channel regulation and function(30), Hormonal Regulation and Hypertension(16), Prenatal Screening and Diagnostics(12), Genomic variations and chromosomal abnormalities(12)

Publications196 total

Personal journeys to and in human genetics and dysmorphology
UNC Libraries·2025Open Access
Process Methods to Improve Freeform Optic Quality & Fabrication Efficiency
2025
626 Obesity Does Not Affect Peritoneal Dialysis Patency but Is Adversely Associated with PD Peritonitis
British journal of surgery·2024Open Access
Personal journeys to and in human genetics and dysmorphology
American Journal of Medical Genetics Part A·2024· 2 citedOpen Access
From homogeneous to heterogeneous network alignment via colored graphlets
Scientific Reports·2018· 45 citedOpen Access
Overrepresentation of pregnancies conceived by artificial reproductive technology in prenatally identified fetuses with Beckwith-Wiedemann syndrome
Journal of Assisted Reproduction and Genetics·2018· 25 citedOpen Access
Detection of a case of Angelman syndrome caused by an imprinting error in 949 pregnancies analyzed for AS following IVF
Journal of Assisted Reproduction and Genetics·2018· 7 citedOpen Access
From homogeneous networks to heterogeneous networks of networks via colored graphlets
arXiv (Cornell University)·2017· 1 citedOpen Access
From homogeneous to heterogeneous network alignment via colored graphlets
arXiv (Cornell University)·2017· 2 citedOpen Access
From homogeneous to heterogeneous network alignment
arXiv (Cornell University)·2017· 1 citedOpen Access
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies
Nature Genetics·2016· 346 citedOpen Access
Missense Mutation R338W in ARHGEF9 in a Family with X-linked Intellectual Disability with Variable Macrocephaly and Macro-Orchidism
Frontiers in Molecular Neuroscience·2016· 26 citedOpen Access
Linkage of atherogenic lipoprotein phenotype to the low density lipoprotein receptor locus on the short arm of chromosome 19 (low density lipoproteins/low density lipoprotein subclasses/insulin receptor/genetic linkage)
2016
Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update
Human Mutation·2015· 71 citedOpen Access
Urinary MicroRNA Profiling Predicts the Development of Microalbuminuria in Patients with Type 1 Diabetes
Journal of Clinical Medicine·2015· 91 citedOpen Access
Mutations in <i>SPECC1L</i>, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome
Journal of Medical Genetics·2014· 48 citedOpen Access
Aldosterone Regulates MicroRNAs in the Cortical Collecting Duct to Alter Sodium Transport
Journal of the American Society of Nephrology·2014· 48 citedOpen Access
Confirmation of 6q21–6q22.1 deletion in Acro‐cardio‐facial syndrome and further delineation of this contiguous gene deletion syndrome
American Journal of Medical Genetics Part A·2014· 48 citedOpen Access
Resveratrol Inhibits the Epithelial Sodium Channel via Phopshoinositides and AMP-Activated Protein Kinase in Kidney Collecting Duct Cells
PLoS ONE·2013· 16 citedOpen Access
Correction: Urinary MicroRNA Profiling in the Nephropathy of Type 1 Diabetes
PLoS ONE·2013· 24 citedOpen Access
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Frequent Co-authors

Robert S. Edinger(9), Michael Butterworth(6), Raymond A. Frizzell(6), Linda Beischel(4), Cindy Hudson(3), Thomas R. Kleyman(3), Derek C. Angus(3), Karen W. Gripp(3), Curtis B. Wilson(3), Jerome S. Handler(3), A S Preston(3), Kathryn W. Peters(3), Yves Lacassie(2), Elaine H. Zackai(2), Matthew A. Deardorff(2), Marcelo D. Carattino(2), James D. Stockand(2), John A. Kellum(2), Michael R. Pinsky(2), David J. Kramer(2)