Publications by authors named "Lisa T Emrick"

16Publications

De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation.

Am J Hum Genet 2020 04 19;106(4):570-583. Epub 2020 Mar 19.

Department of Pediatrics, Baylor College of Medicine (BCM), Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA; Division of Neurology and Developmental Neuroscience, Department of Pediatrics, BCM, Houston, TX 77030, USA; Department of Molecular and Human Genetics, BCM, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA; Program in Development, Disease Models, and Therapeutics, BCM, Houston, TX 77030, USA; Department of Neuroscience, BCM, Houston, TX 77030, USA; McNair Medical Institute, The Robert and Janice McNair Foundation, Houston, TX 77030, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2020.02.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7118694PMC
April 2020

The Expanding Role of Genetics in Cerebral Palsy.

Phys Med Rehabil Clin N Am 2020 02;31(1):15-24

Division of Neurology and Departmental Neurosciences, Department Pediatrics, Cerebral Palsy Clinic, Baylor College of Medicine, Houston, TX, USA.

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http://dx.doi.org/10.1016/j.pmr.2019.09.006DOI Listing
February 2020

Recurrent mosaic MTOR c.5930C > T (p.Thr1977Ile) variant causing megalencephaly, asymmetric polymicrogyria, and cutaneous pigmentary mosaicism: Case report and review of the literature.

Am J Med Genet A 2019 03 19;179(3):475-479. Epub 2018 Dec 19.

Department of Pediatrics, Section of Neurology and Developmental Neuroscience, Baylor College of Medicine, Houston, Texas.

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http://dx.doi.org/10.1002/ajmg.a.61007DOI Listing
March 2019

Impaired nitric oxide production in children with MELAS syndrome and the effect of arginine and citrulline supplementation.

Mol Genet Metab 2016 Apr 27;117(4):407-12. Epub 2016 Jan 27.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2016.01.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4818739PMC
April 2016

Novel de novo mutations in EFTUD2 detected by exome sequencing in mandibulofacial dysostosis with Microcephaly syndrome.

Am J Med Genet A 2015 Apr 3;167A(4):914-8. Epub 2015 Mar 3.

Department of Medicine, Baylor College of Medicine, Houston, Texas.

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http://dx.doi.org/10.1002/ajmg.a.36948DOI Listing
April 2015

The effect of citrulline and arginine supplementation on lactic acidemia in MELAS syndrome.

Meta Gene 2013 Dec 15;1:8-14. Epub 2013 Oct 15.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

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http://dx.doi.org/10.1016/j.mgene.2013.09.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4205025PMC
December 2013

Glucose metabolism derangements in adults with the MELAS m.3243A>G mutation.

Mitochondrion 2014 Sep 30;18:63-9. Epub 2014 Jul 30.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA.

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http://dx.doi.org/10.1016/j.mito.2014.07.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4252755PMC
September 2014

Prenatal diagnosis of CLOVES syndrome confirmed by detection of a mosaic PIK3CA mutation in cultured amniocytes.

Am J Med Genet A 2014 Oct 14;164A(10):2633-7. Epub 2014 Jul 14.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA; Division of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.

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http://dx.doi.org/10.1002/ajmg.a.36672DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4496426PMC
October 2014

Mitochondria: role of citrulline and arginine supplementation in MELAS syndrome.

Int J Biochem Cell Biol 2014 Mar 8;48:85-91. Epub 2014 Jan 8.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. Electronic address:

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http://dx.doi.org/10.1016/j.biocel.2013.12.009DOI Listing
March 2014

Citrulline and arginine utility in treating nitric oxide deficiency in mitochondrial disorders.

Mol Genet Metab 2012 Nov 6;107(3):247-52. Epub 2012 Jul 6.

Medical Genetics Section, Department of Pediatrics, The Children's Hospital at King Fahad Medical City and King Saud bin Abdulaziz University for Health Science, Riyadh, Kingdom of Saudi Arabia.

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http://dx.doi.org/10.1016/j.ymgme.2012.06.018DOI Listing
November 2012

Restoration of impaired nitric oxide production in MELAS syndrome with citrulline and arginine supplementation.

Mol Genet Metab 2012 Apr 24;105(4):607-14. Epub 2012 Jan 24.

Division of Medical Genetics, Department of Child Health, University of Missouri Health Care, Columbia, MO 65212, USA.

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http://dx.doi.org/10.1016/j.ymgme.2012.01.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4093801PMC
April 2012