Publications by authors named "Kim Keppler-Noreuil"

Am J Hum Genet 2021 Jan;108(1):8-15

Section of Genetics and Metabolism, Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, AR 72202, USA.

Am J Med Genet A 2020 11 14;182(11):2646-2661. Epub 2020 Sep 14.

Division of Genetics and Metabolism, Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota, USA.

Cold Spring Harb Mol Case Stud 2020 06 12;6(3). Epub 2020 Jun 12.

Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.

Am J Med Genet C Semin Med Genet 2019 12 6;181(4):565-570. Epub 2019 Nov 6.

National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

Am J Med Genet C Semin Med Genet 2019 12 6;181(4):571-581. Epub 2019 Sep 6.

Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

Cold Spring Harb Mol Case Stud 2019 08 1;5(4). Epub 2019 Aug 1.

National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.

Birth Defects Res 2019 12 21;111(20):1618-1632. Epub 2019 Jul 21.

National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia.

Hum Mol Genet 2019 09;28(17):2920-2936

Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, MD, USA.

Am J Hum Genet 2019 03 22;104(3):484-491. Epub 2019 Feb 22.

Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA. Electronic address:

Eur J Med Genet 2020 Jan 21;63(1):103634. Epub 2019 Feb 21.

833 Chestnut Street, Department of Obstetrics and Gynecology, Division of Maternal-Fetal Medicine, Thomas Jefferson University Hospital, Philadelphia, PA, U19107, USA. Electronic address:

J Clin Invest 2018 11 1;128(11):5185. Epub 2018 Nov 1.

Am J Med Genet A 2018 12 22;176(12):2677-2684. Epub 2018 Oct 22.

Liver Diseases Branch, National Institute of Diabetes & Digestive & Kidney Diseases, National Institutes of Health, Bethesda, Maryland.

Genet Med 2019 05 1;21(5):1189-1198. Epub 2018 Oct 1.

Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

Birth Defects Res 2018 11 19;110(19):1419-1432. Epub 2018 Sep 19.

Congenital Malformations Registry, NYS Department of Health, Albany, New York.

J Clin Invest 2018 04 12;128(4):1496-1508. Epub 2018 Mar 12.

Genetics and Genomic Medicine, University College London (UCL) Great Ormond Street Institute of Child Health, London, United Kingdom.

J Pediatr Orthop 2018 Mar;38(3):e138-e144

Children's National Health System, NW, Washington, DC.

Genet Med 2018 09 4;20(9):1077-1081. Epub 2018 Jan 4.

Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.

J Am Acad Dermatol 2018 04 16;78(4):725-732. Epub 2017 Oct 16.

Department of Dermatology, Uniformed Services University of the Health Sciences, Bethesda, Maryland. Electronic address:

Am J Med Genet A 2017 Nov 28;173(11):2873-2885. Epub 2017 Sep 28.

Department of Epidemiology, University of Iowa College of Public Health, Iowa City, Iowa.

Am J Med Genet A 2017 Sep 19;173(9):2359-2365. Epub 2017 Jun 19.

Medical Genomics Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

Am J Med Genet A 2017 08 24;173(8):2007-2073. Epub 2017 May 24.

Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah.

Dermatol Clin 2017 Jan;35(1):51-60

Department of Dermatology, Uniformed Services University of the Health Sciences, 4301 Jones Bridge Road, Bethesda, MD 20814, USA. Electronic address:

Am J Med Genet C Semin Med Genet 2016 12 18;172(4):402-421. Epub 2016 Nov 18.

Am J Med Genet A 2016 10 23;170(10):2605-10. Epub 2016 Aug 23.

Medical Genomics and Metabolic Genetics Branch, National Human Genetics Research Branch, National Institutes of Health, Bethesda, Maryland.

J Epidemiol Community Health 2016 11 20;70(11):1114-1121. Epub 2016 Jun 20.

National Center on Birth Defects and Developmental Disabilities, CDC, Atlanta, Georgia, USA.

Am J Med Genet A 2016 10 18;170(10):2559-69. Epub 2016 May 18.

National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

Am J Med Genet A 2016 08 7;170(8):1959-66. Epub 2016 May 7.

National Cancer Institute, NIH, Bethesda, Maryland.

Curr Genomics 2016 Feb;17(1):4-13

Department of Clinical Chemistry and Clinical Pharmacology, University of Bonn, Bonn, Germany.

Am J Hum Genet 2015 Sep 13;97(3):465-74. Epub 2015 Aug 13.

Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA. Electronic address:

Am J Med Genet A 2015 Sep 1;167A(9):2009-16. Epub 2015 May 1.

Division of Medical Genetics, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah.

Am J Hum Genet 2015 May 9;96(5):816-25. Epub 2015 Apr 9.

Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, Rome, 00161 Italy; Polo di Ricerca - Malattie rare, Ospedale Pediatrico Bambino Gesù IRCSS, Rome, 00146 Italy. Electronic address:

Hum Mol Genet 2015 Apr 7;24(8):2375-89. Epub 2015 Jan 7.

Division of Genetics, Department of Medicine,

Am J Med Genet A 2015 Feb 31;167A(2):287-95. Epub 2014 Dec 31.

National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

Hum Genome Var 2015 19;2:15045. Epub 2015 Nov 19.

Medical Genomics and Metabolic Genetics Branch, National Human Research Institute, National Institutes of Health , Bethesda, MD, USA.

Clin Infect Dis 2014 Dec;59 Suppl 7:S428-36

University of Utah School of Medicine, Salt Lake City.

Am J Med Genet A 2014 Jul 29;164A(7):1713-33. Epub 2014 Apr 29.

National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

Am J Med Genet A 2013 Dec 5;161A(12):2964-71. Epub 2013 Nov 5.

Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

Am J Med Genet A 2013 Nov 3;161A(11):2762-76. Epub 2013 Oct 3.

Medical Genetics, MassGeneral Hospital for Children, Boston, Massachusetts.

Am J Med Genet A 2013 Jul 23;161A(7):1523-30. Epub 2013 May 23.

Departments of Neurology, Pediatrics, and Biomedical Genetics, Center for Neural Development and Disease, University of Rochester Medical Center, Rochester, NY 14642, USA.

Hum Mutat 2013 Sep 28;34(9):1242-9. Epub 2013 May 28.

Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.

Am J Hum Genet 2013 Apr 21;92(4):598-604. Epub 2013 Mar 21.

Department of Genetics, King Faisal Specialist Hospital and Research Center, PO Box 3354, Riyadh 11211, Saudi Arabia.

Am J Med Genet A 2013 May 13;161A(5):1105-9. Epub 2013 Mar 13.

Division of Medical Genetics, Department of Pediatrics, University of Iowa Hospitals and Clinics, Iowa City, IA 52242, USA.

Nat Med 2012 Dec 18;18(12):1797-804. Epub 2012 Nov 18.

Graduate Program in Neuroscience, University of Iowa Carver College of Medicine, Iowa City, Iowa, USA.

Nature 2012 Jan 22;482(7383):98-102. Epub 2012 Jan 22.

Department of Genetics and Howard Hughes Medical Institute, Yale University School of Medicine, New Haven, Connecticut 06510, USA.

Am J Med Genet A 2011 Sep 3;155A(9):2224-8. Epub 2011 Aug 3.

Division of Medical Genetics, Department of Pediatrics, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA.

BMC Med Genet 2011 Jul 27;12:101. Epub 2011 Jul 27.

Department of Pediatrics, Division of Medical Genetics, The University of Iowa Children's Hospital, Iowa City, IA 52242, USA.

N Engl J Med 2011 Aug 27;365(7):611-9. Epub 2011 Jul 27.

National Human Genome Research Institute, Bethesda, Maryland, USA.

Am J Med Genet A 2011 May 4;155A(5):1021-32. Epub 2011 Apr 4.

Division of Medical Genetics, Department of Pediatrics, University of Iowa Hospitals & Clinics, Iowa City, USA.

Am J Med Genet A 2011 Jan;155A(1):38-49

Department of Pediatrics, University of Michigan, Ann Arbor, USA.

J Craniofac Surg 2010 Sep;21(5):1339-45

Division of Medical Genetics, University of Iowa Children's Hospital, Iowa City, Iowa 52242, USA.

Nat Genet 2008 Mar 24;40(3):287-9. Epub 2008 Feb 24.

Institute of Human Genetics, University of Freiburg, Freiburg, D-79106 Freiburg, Germany.

Am J Med Genet A 2007 Nov;143A(21):2581-7

Department of Pediatrics/Division of Medical Genetics, University of Iowa Hospital & Clinics, Iowa City, Iowa 52242, USA.

Am J Med Genet A 2007 Sep;143A(18):2122-8

Division of Medical Genetics, Department of Pediatrics, University of Iowa Children's Hospital, Iowa City, Iowa 52242, USA.

Am J Med Genet A 2006 Dec;140(24):2730-41

Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA.

Am J Med Genet A 2006 Feb;140(3):276-80

Children's Hospital, Division of Developmental-Behavioral Pediatrics, Department of Pediatrics, The Center for Disabilities and Development, The University of Iowa, Iowa City, Iowa, USA.

Fertil Steril 2005 Nov;84(5):1308-15

Division of Reproductive Endocrinology and Infertility, Department of Obstetrics and Gynecology, University of Iowa, Iowa City, Iowa, USA.

Am J Med Genet A 2005 Aug;136A(4):358-62

Division of Human Genetics and Molecular Biology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.

Am J Med Genet A 2005 Jan;132A(3):265-72

Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.

Birth Defects Res A Clin Mol Teratol 2003 Mar;67(3):193-201

National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia 30341, USA.

Dev Med Child Neurol 2002 Jan;44(1):64-7

University of Iowa Hospitals and Clinics, Department of Pediatrics, Iowa City 52232, USA.