Publications by authors named "Nancy D Leslie"

25Publications

Participant choices for return of genomic results in the eMERGE Network.

Authors:
Christin Hoell Julia Wynn Luke V Rasmussen Keith Marsolo Sharon A Aufox Wendy K Chung John J Connolly Robert R Freimuth David Kochan Hakon Hakonarson Margaret Harr Ingrid A Holm Iftikhar J Kullo Philip E Lammers Kathleen A Leppig Nancy D Leslie Melanie F Myers Richard R Sharp Maureen E Smith Cynthia A Prows

Genet Med 2020 Nov 16;22(11):1821-1829. Epub 2020 Jul 16.

Divisions of Human Genetics and Patient Services, Cincinnati Children's Hospital, Cincinnati, OH, USA.

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November 2020

Clinical characteristics and genotypes in the ADVANCE baseline data set, a comprehensive cohort of US children and adolescents with Pompe disease.

Authors:
Priya S Kishnani James B Gibson Michael J Gambello Richard Hillman David W Stockton David Kronn Nancy D Leslie Loren D M Pena Pranoot Tanpaiboon John W Day Raymond Y Wang Jennifer L Goldstein Kristina An Haack Susan E Sparks Yang Zhao Si Houn Hahn

Genet Med 2019 11 14;21(11):2543-2551. Epub 2019 May 14.

Seattle Children's Hospital/University of Washington, Seattle, WA, USA.

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November 2019

Tertiary Pediatric Academic Institution's Experience With Intraoperative Neuromonitoring for Nonspinal Surgery in Children With Mucopolysaccharidosis, Based on a Novel Evidence-Based Care Algorithm.

Authors:
Ali I Kandil Cindy S Pettit Lisa N Berry Veronica O Busso Matthew Careskey Emily Chesnut David W Buck Nancy D Leslie Junichi Tamai John J McAuliffe Vidya Chidambaran

Anesth Analg 2020 06;130(6):1678-1684

From the Department of Anesthesiology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.

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June 2020

Expanding and Underscoring the Hepato-Encephalopathic Phenotype of QIL1/MIC13.

Authors:
Bianca E Russell Kaitlin G Whaley Kevin E Bove Anatalia Labilloy Rachel C Lombardo Robert J Hopkin Nancy D Leslie Carlos Prada Zahra Assouline Giulia Barcia Juliette Bouchereau Maryline Chomton Dominique Debray Imen Dorboz Philippe Durand Pauline Gaignard Dalila Habes Claude Jardel François Labarthe Jonathan Lévy Anne Lombès Claire Mehler-Jacob Judith Melki Laura Menvielle Arnold Munnich Charlotte Mussini Samia Pichard Marlène Rio Agnès Rötig Samira Sissaoui Abdelhamid Slama Alexander G Miethke Manuel Schiff

Hepatology 2019 09 16;70(3):1066-1070. Epub 2019 May 16.

Reference Center for Inherited Metabolic Diseases, Robert Debré Hospital, University Paris Diderot-Sorbonne Paris Cité, APHP, Paris, France.

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September 2019

Acquired ornithine transcarbamylase deficiency in pediatric and adolescent patients with fibrolamellar hepatocellular carcinoma.

Authors:
Allison L Bartlett Nancy D Leslie Anita Gupta James I Geller

Pediatr Blood Cancer 2018 12 9;65(12):e27392. Epub 2018 Aug 9.

Division of Pediatric Oncology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.

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December 2018

Efficacy, safety profile, and immunogenicity of alglucosidase alfa produced at the 4,000-liter scale in US children and adolescents with Pompe disease: ADVANCE, a phase IV, open-label, prospective study.

Authors:
Si Houn Hahn David Kronn Nancy D Leslie Loren D M Pena Pranoot Tanpaiboon Michael J Gambello James B Gibson Richard Hillman David W Stockton John W Day Raymond Y Wang Kristina An Haack Raheel Shafi Susan Sparks Yang Zhao Catherine Wilson Priya S Kishnani

Genet Med 2018 10 22;20(10):1284-1294. Epub 2018 Mar 22.

Pediatrics, Duke University Medical Center, Durham, North Carolina, USA.

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October 2018

Ethical Considerations Related to Return of Results from Genomic Medicine Projects: The eMERGE Network (Phase III) Experience.

Authors:
Robyn Fossey David Kochan Erin Winkler Joel E Pacyna Janet Olson Stephen Thibodeau John J Connolly Margaret Harr Meckenzie A Behr Cynthia A Prows Beth Cobb Melanie F Myers Nancy D Leslie Bahram Namjou-Khales Hila Milo Rasouly Julia Wynn Alexander Fedotov Wendy K Chung Ali Gharavi Janet L Williams Lynn Pais Ingrid Holm Sharon Aufox Maureen E Smith Aaron Scrol Kathleen Leppig Gail P Jarvik Georgia L Wiesner Rongling Li Mary Stroud Jordan W Smoller Richard R Sharp Iftikhar J Kullo

J Pers Med 2018 Jan 3;8(1). Epub 2018 Jan 3.

Department of Cardiovascular Diseases, Mayo Clinic, Rochester, MN 55905, USA.

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January 2018

Mucopolysaccharidosis Type I Newborn Screening: Best Practices for Diagnosis and Management.

Authors:
Lorne A Clarke Andrea M Atherton Barbara K Burton Debra L Day-Salvatore Paige Kaplan Nancy D Leslie C Ronald Scott David W Stockton Janet A Thomas Joseph Muenzer

J Pediatr 2017 03 7;182:363-370. Epub 2016 Dec 7.

University of North Carolina at Chapel Hill, Chapel Hill, NC.

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March 2017

Inborn Errors of Metabolism Collaborative: large-scale collection of data on long-term follow-up for newborn-screened conditions.

Authors:
Susan A Berry Nancy D Leslie Mathew J Edick Sally Hiner Kaitlin Justice Cynthia Cameron

Genet Med 2016 12 19;18(12):1276-1281. Epub 2016 May 19.

Michigan Public Health Institute, Okemos, Michigan, USA.

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December 2016

Bilateral cataracts in a 6-yr-old with new onset diabetes: a novel presentation of a known INS gene mutation.

Authors:
Halley Wasserman Robert B Hufnagel Virginia Miraldi Utz Kejian Zhang C Alexander Valencia Nancy D Leslie Nancy A Crimmins

Pediatr Diabetes 2016 11 4;17(7):535-539. Epub 2015 Nov 4.

Division of Endocrinology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.

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November 2016

Outcomes of four patients with homocysteine remethylation disorders detected by newborn screening.

Authors:
Derek Wong Silvia Tortorelli Lisa Bishop Elizabeth A Sellars Lisa A Schimmenti Natalie Gallant Carlos E Prada Robert J Hopkin Nancy D Leslie Susan A Berry David S Rosenblatt Amy L Fair Dietrich Matern Kimiyo Raymond Devin Oglesbee Piero Rinaldo Dimitar Gavrilov

Genet Med 2016 Feb 9;18(2):162-7. Epub 2015 Apr 9.

Biochemical Genetics Laboratory, Mayo Clinic College of Medicine, Rochester, Minnesota, USA.

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February 2016

Malonyl coenzyme A decarboxylase deficiency: early dietary restriction and time course of cardiomyopathy.

Authors:
Carlos E Prada John L Jefferies Michelle A Grenier Christina M Huth Kimberley I Page Robert L Spicer Jeffrey A Towbin Nancy D Leslie

Pediatrics 2012 Aug 9;130(2):e456-60. Epub 2012 Jul 9.

Division of Human Genetics, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, 3333 Burnet Ave, MLC 4006, Cincinnati, OH 45229, USA.

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August 2012

Recurrent pancreatitis in ornithine transcarbamylase deficiency.

Authors:
Carlos E Prada Ajay Kaul Robert J Hopkin Kimberley I Page Jaimie D Nathan Dennis W Bartholomew Mitchell B Cohen James E Heubi Nancy D Leslie T Andrew Burrow

Mol Genet Metab 2012 Aug 15;106(4):482-4. Epub 2012 Jun 15.

Division of Human Genetics, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, USA.

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August 2012

Evidence-based path to newborn screening for Duchenne muscular dystrophy.

Authors:
Jerry R Mendell Chris Shilling Nancy D Leslie Kevin M Flanigan Roula al-Dahhak Julie Gastier-Foster Kelley Kneile Diane M Dunn Brett Duval Alexander Aoyagi Cindy Hamil Maha Mahmoud Kandice Roush Lauren Bird Chelsea Rankin Heather Lilly Natalie Street Ram Chandrasekar Robert B Weiss

Ann Neurol 2012 Mar;71(3):304-13

Department of Pediatrics, Ohio State University and Nationwide Children's Hospital, Columbus, OH 43205, USA.

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March 2012

Cardiac disease in methylmalonic acidemia.

Authors:
Carlos E Prada Fatma Al Jasmi Edwin P Kirk Maxwell Hopp Owen Jones Nancy D Leslie T Andrew Burrow

J Pediatr 2011 Nov 23;159(5):862-4. Epub 2011 Jul 23.

Division of Human Genetics, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, OH, USA.

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November 2011

The effects of gestational age and birth weight on false-positive newborn-screening rates.

Authors:
Jonathan L Slaughter Jareen Meinzen-Derr Susan R Rose Nancy D Leslie Ram Chandrasekar Sharon M Linard Henry T Akinbi

Pediatrics 2010 Nov 25;126(5):910-6. Epub 2010 Oct 25.

Cincinnati Children's Hospital Medical Center, Division of Neonatology, University of Cincinnati College of Medicine, 3333 Burnet Ave, Cincinnati, OH 45229-3039, USA.

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November 2010

Intellectual disability, midface hypoplasia, facial hypotonia, and Alport syndrome are associated with a deletion in Xq22.3.

Authors:
Jayson D Rodriguez Shambhu S Bhat Ilaria Meloni Sydney Ladd Nancy D Leslie Emanuel O Doyne Alessandra Renieri Barbara R Dupont Roger E Stevenson Charles E Schwartz Anand K Srivastava

Am J Med Genet A 2010 Mar;152A(3):713-7

JC Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, South Carolina, USA.

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March 2010

Early treatment with alglucosidase alpha prolongs long-term survival of infants with Pompe disease.

Authors:
Priya S Kishnani Deya Corzo Nancy D Leslie Daniel Gruskin Ans Van der Ploeg John P Clancy Rosella Parini Gilles Morin Michael Beck Mislen S Bauer Mikael Jokic Chen-En Tsai Brian W H Tsai Claire Morgan Tara O'Meara Susan Richards Elisa C Tsao Hanna Mandel

Pediatr Res 2009 Sep;66(3):329-35

Department of Pediatrics, Duke University Medical Center, Durham, North Carolina 27710, USA.

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September 2009

A novel hereditary spastic paraplegia with dystonia linked to chromosome 2q24-2q31.

Authors:
Donald L Gilbert Elizabeth J Leslie Mehdi Keddache Nancy D Leslie

Mov Disord 2009 Feb;24(3):364-70

Division of Neurology, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, University of Cincinnati School of Medicine, Cincinnati, Ohio 45229-3039, USA.

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February 2009

Review of the use of idursulfase in the treatment of mucopolysaccharidosis II.

Authors:
T Andrew Burrow Nancy D Leslie

Biologics 2008 Jun;2(2):311-20

The Division of Human Genetics, Cincinnati Children's Hospital Medical Center, and the Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA.

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June 2008

Enzyme reconstitution/replacement therapy for lysosomal storage diseases.

Authors:
T Andrew Burrow Robert J Hopkin Nancy D Leslie Bradley T Tinkle Gregory A Grabowski

Curr Opin Pediatr 2007 Dec;19(6):628-35

Division of Human Genetics, Cincinnati Children's Hospital Medical Center and the Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio 45229-3039, USA.

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December 2007

Prolactin signaling through the short form of its receptor represses forkhead transcription factor FOXO3 and its target gene galt causing a severe ovarian defect.

Authors:
Julia Halperin Y Sangeeta Devi Sangeeta Y Devi Shai Elizur Carlos Stocco Aurora Shehu Diane Rebourcet Terry G Unterman Nancy D Leslie Jamie Le Nadine Binart Geula Gibori

Mol Endocrinol 2008 Feb 1;22(2):513-22. Epub 2007 Nov 1.

Department of Physiology and Biophysics, College of Medicine, University of Illinois at Chicago, 835 South Wolcott, M/C 901, Chicago, IL 60612, USA.

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February 2008

An updated review of the long-term neurological effects of galactosemia.

Authors:
Keith R Ridel Nancy D Leslie Donald L Gilbert

Pediatr Neurol 2005 Sep;33(3):153-61

University of Cincinnati School of Medicine, Cincinnati, Ohio, USA.

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September 2005

Undetectable maternal serum uE3 and postnatal abnormal sterol and steroid metabolism in Antley-Bixler syndrome.

Authors:
Deborah L Cragun Sharon K Trumpy Cedric H L Shackleton Richard I Kelley Nancy D Leslie Neil P Mulrooney Robert J Hopkin

Am J Med Genet A 2004 Aug;129A(1):1-7

Cincinnati Children's Hospital Medical Center, Division of Human Genetics, Cincinnati, Ohio 45229, USA.

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August 2004

Insights into the pathogenesis of galactosemia.

Authors:
Nancy D Leslie

Annu Rev Nutr 2003 9;23:59-80. Epub 2003 Apr 9.

Division of Human Genetics, Cincinnati Children's Hospital Research Foundation, 3333 Burnet Avenue, Cincinnati, Ohio 45229, USA.

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November 2003