Publications by authors named "Lisa Kratz"

44 Publications

Novel gene variant for congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) syndrome.

BMJ Case Rep 2020 Nov 2;13(11). Epub 2020 Nov 2.

Division of Clinical Genetics, Department of Pediatrics, Philippine General Hospital, University of the Philippines Manila, Manila, Philippines.

View Article and Find Full Text PDF
November 2020

A homozygous variant in the Lamin B receptor gene LBR results in a non-lethal skeletal dysplasia without Pelger-Huët anomaly.

Bone 2020 12 19;141:115601. Epub 2020 Aug 19.

CHU Sainte Justine Research Center, Université de Montréal, Montreal, QC, Canada; Medical Genetics Division, Department of Pediatrics, Sainte-Justine University Hospital Center, Montreal, QC, Canada. Electronic address:

View Article and Find Full Text PDF
December 2020

Elevated creatinine in a patient on IVIG-therapy.

Clin Chim Acta 2018 Nov 21;486:94-97. Epub 2018 Jul 21.

Department of Pathology, Johns Hopkins University School of Medicine, 1800 Orleans Street, Baltimore, MD 21287, USA. Electronic address:

View Article and Find Full Text PDF
November 2018

Randomized open-label trial of dextromethorphan in Rett syndrome.

Neurology 2017 Oct 20;89(16):1684-1690. Epub 2017 Sep 20.

From the Departments of Neurology (C.L.S.-H., S.G., J.B.E., M.V.J., S.N.), Psychological and Brain Science (J.B.E.), Pediatrics (L.K., R.K.), Psychiatry (E.T.), and Psychology (R.V.), and the Neurogenetics Department (G.B.), Kennedy Krieger Institute, Johns Hopkins University School of Medicine (N.B.); Investigational Drug Service, Department of Pharmacy (M.H.), Johns Hopkins Hospital; and Johns Hopkins Bloomberg School of Public Health (A.S., G.Y.), Johns Hopkins Biostatistics Center, Baltimore, MD.

View Article and Find Full Text PDF
October 2017

Severe phenotype of X-linked dominant chondrodysplasia punctata.

Clin Case Rep 2017 09 20;5(9):1435-1437. Epub 2017 Jul 20.

Division of Clinical and Metabolic Genetics The Hospital for Sick Children University of Toronto Toronto Ontario M5G 1X8 Canada.

View Article and Find Full Text PDF
September 2017

A placebo-controlled trial of simvastatin therapy in Smith-Lemli-Opitz syndrome.

Genet Med 2017 03 11;19(3):297-305. Epub 2016 Aug 11.

Section on Molecular Dysmorphology, Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Department of Health and Human Services, Bethesda, Maryland, USA.

View Article and Find Full Text PDF
March 2017

Altered cholesterol biosynthesis causes precocious neurogenesis in the developing mouse forebrain.

Neurobiol Dis 2016 07 24;91:69-82. Epub 2016 Feb 24.

Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA; Division of Developmental Biology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA. Electronic address:

View Article and Find Full Text PDF
July 2016

Endogenous Sterol Metabolites Regulate Growth of EGFR/KRAS-Dependent Tumors via LXR.

Cell Rep 2015 Sep 3;12(11):1927-38. Epub 2015 Sep 3.

Molecular Therapeutics Program, Fox Chase Cancer Center, Philadelphia, PA 19111, USA; Institute of Fundamental Medicine and Biology, Kazan Federal University, Kazan, Tatarstan 420000, Russia. Electronic address:

View Article and Find Full Text PDF
September 2015

Adult presentation of X-linked Conradi-Hünermann-Happle syndrome.

Am J Med Genet A 2015 Jun 2;167(6):1309-14. Epub 2015 Apr 2.

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

View Article and Find Full Text PDF
June 2015

Desmosterolosis: an illustration of diagnostic ambiguity of cholesterol synthesis disorders.

Orphanet J Rare Dis 2014 Jun 25;9:94. Epub 2014 Jun 25.

Department of Medical Genetics, University of British Columbia, 4500 Oak St,, Vancouver, British Columbia, V6H 3N1, Canada.

View Article and Find Full Text PDF
June 2014

Disorders of sterol synthesis: beyond Smith-Lemli-Opitz syndrome.

Am J Med Genet C Semin Med Genet 2012 Nov 5;160C(4):301-21. Epub 2012 Oct 5.

Center for Molecular and Human Genetics, The Research Institute at Nationwide Children's Hospital, 700 Children's Dr. Rm W403, Columbus, OH 43205, USA.

View Article and Find Full Text PDF
November 2012

Mental health problems, legal involvement, and smoking during pregnancy.

Subst Use Misuse 2012 May 12;47(6):718-25. Epub 2012 Mar 12.

Department of Counseling and Educational Psychology, Indiana University, Bloomington, Indiana 47405, USA.

View Article and Find Full Text PDF
May 2012

Hepatitis C virus selectively perturbs the distal cholesterol synthesis pathway in a genotype-specific manner.

Hepatology 2012 Jul 5;56(1):49-56. Epub 2012 Jun 5.

Duke Clinical Research Institute and Department of Gastroenterology, Duke University Medical Center, Durham, NC 27715, USA.

View Article and Find Full Text PDF
July 2012

Cholesterol metabolism is required for intracellular hedgehog signal transduction in vivo.

PLoS Genet 2011 Sep 1;7(9):e1002224. Epub 2011 Sep 1.

Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts, United States of America.

View Article and Find Full Text PDF
September 2011

Religiosity, alcohol use attitudes, and alcohol use in a national sample of adolescents.

Psychol Addict Behav 2011 Sep;25(3):547-53

Department of Counseling and Educational Psychology, Indiana University, 201 North Rose Avenue, Bloomington, IN 47405-1006, USA.

View Article and Find Full Text PDF
September 2011

Academics and substance use among Latino adolescents: results from a national study.

J Ethn Subst Abuse 2011 ;10(2):147-61

Department of Counseling and Educational Psychology, Indiana University, 201 N. Rose Avenue, Room 4054, Bloomington, IN 47405-1006, USA.

View Article and Find Full Text PDF
October 2011