Lisa Emrick

Lisa Emrick

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Lisa Emrick

Lisa Emrick

Publications by authors named "Lisa Emrick"

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30Publications

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The Expanding Role of Genetics in Cerebral Palsy.

Phys Med Rehabil Clin N Am 2020 Feb;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

Early Identification of Pediatric Neurology Patients With Palliative Care Needs: A Pilot Study.

Am J Hosp Palliat Care 2019 Nov 23;36(11):959-966. Epub 2019 Apr 23.

4 Section of Palliative Medicine, Department of Pediatrics, Baylor College of Medicine, Texas Children's Hospital, Houston, TX, USA.

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http://dx.doi.org/10.1177/1049909119844519DOI Listing
November 2019

Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes.

Neurol Genet 2019 Apr 18;5(2):e565. Epub 2019 Apr 18.

Department of Neurology (C.S., J.S., C.Z., J. Lu, J.X., S. Luo, J. Lin), Huashan Hospital, Fudan University, Shanghai, China; Baylor Genetic Laboratories (Y.J., Z.N., M.L.L., M.W., R.E.P., H.M., Y.Y.), Houston, TX; Department of Radiology (Y.L.), Huashan Hospital, Fudan University; Department of Pathology (Y.W., M.G.), Huashan Hospital, Fudan University, Shanghai, China; Department of Biochemistry and Molecular Pharmacology (M.L., K.D., Y.-M.H.), Thomas Jefferson University, Philadelphia, PA; Department of Human Genetics (S.N.O., A.A.), University of Michigan Medical School, Ann Arbor, MI; Department of Pediatrics and Department of Obstetrics and Gynecology (S.L.), University of Hawaii School of Medicine, Honolulu, HI; Department of Medical Oncology and Therapeutics Research (T.P.S.), Division of Clinical Cancer Genetics, City of Hope National Medical Center, Duarte, CA; Department of Molecular and Human Genetics (P.L.M., A.L.M., L.E., S.R.L., Z.N., M.L.L., J.A.R., M.W., R.E.P., H.M., J.A.R., Y.Y., V.W.Z.), Baylor College of Medicine, Houston, TX; and AmCare Genomics Lab (V.W.Z.), Guangzhou, China.

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http://dx.doi.org/10.1212/NXG.0000000000000316DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6515944PMC
April 2019

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

Pathogenic Variants in Fucokinase Cause a Congenital Disorder of Glycosylation.

Am J Hum Genet 2018 12 29;103(6):1030-1037. Epub 2018 Nov 29.

Human Genetics Program, Sanford-Burnham-Prebys Medical Discovery Institute, La Jolla, CA 92037, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.10.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6288200PMC
December 2018

Clinical Reasoning: Ventriculomegaly detected on 20-week anatomic fetal ultrasound.

Neurology 2018 09;91(13):e1265-e1268

From the Department of Pediatrics, Section of Neurology and Developmental Neuroscience (R.C.S., A.M.L.-W., L.E.), and Department of Molecular and Human Genetics (L.E.), Baylor College of Medicine, Texas Children's Hospital, Houston.

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http://www.neurology.org/lookup/doi/10.1212/WNL.000000000000
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http://dx.doi.org/10.1212/WNL.0000000000006247DOI Listing
September 2018

Recommendations for the Management of Strokelike Episodes in Patients With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Strokelike Episodes.

JAMA Neurol 2016 May;73(5):591-4

Department of Pediatrics, Children's Hospital of Pittsburgh of University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania.

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http://dx.doi.org/10.1001/jamaneurol.2015.5072DOI Listing
May 2016

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

De Novo Mutations in Patients with Ataxic CP.

Pediatr Neurol Briefs 2015 Aug;29(8):62

Departments of Neurology and Developmental Neuroscience, Baylor College of Medicine, Houston, TX.

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http://dx.doi.org/10.15844/pedneurbriefs-29-8-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4747133PMC
August 2015

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

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

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

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

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

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