Publications by authors named "Lina Ghaloul-Gonzalez"

12Publications

Rapid Whole Genome Sequencing and Fulfilling the Promise of Precision Pediatric Critical Care.

Pediatr Crit Care Med 2019 11;20(11):1085-1086

Department of Critical Care Medicine, University of Pittsburgh School of Medicine, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA Department of Pediatrics; and Department of Human Genetics, University of Pittsburgh School of Medicine, Graduate School of Public Health, UPMC Children's Hospital of Pittsburgh, University of Pittsburgh, Pittsburgh, PA Department of Critical Care Medicine, University of Pittsburgh School of Medicine, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA.

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http://dx.doi.org/10.1097/PCC.0000000000002082DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7232857PMC
November 2019

ETHE1 and MOCS1 deficiencies: Disruption of mitochondrial bioenergetics, dynamics, redox homeostasis and endoplasmic reticulum-mitochondria crosstalk in patient fibroblasts.

Sci Rep 2019 09 2;9(1):12651. Epub 2019 Sep 2.

Programa de Pós-Graduação em Ciências Biológicas: Bioquímica, Universidade Federal do Rio Grande do Sul, Rua Ramiro Barcelos, 2600-Anexo, CEP 90035-003, Porto Alegre, RS, Brazil.

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http://dx.doi.org/10.1038/s41598-019-49014-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6718683PMC
September 2019

Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons.

Am J Hum Genet 2019 05 25;104(5):815-834. Epub 2019 Apr 25.

CHU-Sainte Justine Research Centre, University of Montreal, Montreal, QC H3T 1C5, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.03.022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6507050PMC
May 2019

Adults with septic shock and extreme hyperferritinemia exhibit pathogenic immune variation.

Genes Immun 2019 07 6;20(6):520-526. Epub 2018 Jul 6.

Department of Critical Care Medicine, School of Medicine, University of Pittsburgh, Pittsburgh, PA, USA.

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http://dx.doi.org/10.1038/s41435-018-0030-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6320733PMC
July 2019

Medium chain acyl-CoA dehydrogenase deficiency in a premature infant.

Pediatr Rep 2017 Nov 21;9(4):7045. Epub 2017 Nov 21.

Division of Medical Genetics, Children's Hospital of Pittsburgh, PA, USA.

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http://dx.doi.org/10.4081/pr.2017.7045DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5733391PMC
November 2017

Mitochondrial respiratory chain disorders in the Old Order Amish population.

Mol Genet Metab 2016 08 16;118(4):296-303. Epub 2016 Jun 16.

Department of Pediatrics, School of Medicine, University of Pittsburgh, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, PA, USA; Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA, USA.

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http://dx.doi.org/10.1016/j.ymgme.2016.06.005DOI Listing
August 2016

Absence of skeletal anomalies in siblings with a maternally inherited 12q13.13-q13.2 microdeletion partially involving the HOXC gene cluster.

Am J Med Genet A 2014 Mar 17;164A(3):810-4. Epub 2014 Jan 17.

Pittsburgh Cytogenetics Laboratory, Center for Medical Genetics and Genomics, Magee-Womens Hospital of UPMC, Pittsburgh, Pennsylvania; Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, Pennsylvania.

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http://dx.doi.org/10.1002/ajmg.a.36359DOI Listing
March 2014