Publications by authors named "Kim Keppler-Noreuil"

60Publications

Recurrent constellations of embryonic malformations re-conceptualized as an overlapping group of disorders with shared pathogenesis.

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.

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November 2020

Allelic heterogeneity of Proteus syndrome.

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.

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June 2020

A dyadic genotype-phenotype approach to diagnostic criteria for Proteus syndrome.

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.

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December 2019

Thrombosis risk factors in PIK3CA-related overgrowth spectrum and Proteus syndrome.

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.

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December 2019

Molecular heterogeneity of the cerebriform connective tissue nevus in mosaic overgrowth syndromes.

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.

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August 2019

Diagnosis and clinical delineation of mosaic tetrasomy 5p.

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:

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January 2020

Characterization of the hepatosplenic and portal venous findings in patients with Proteus syndrome.

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.

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December 2018

Descriptive epidemiology of cerebellar hypoplasia in the National Birth Defects Prevention Study.

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

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

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November 2018

Urine cell-free DNA is a biomarker for nephroblastomatosis or Wilms tumor in PIK3CA-related overgrowth spectrum (PROS).

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.

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September 2018

Pathogenetic insights from quantification of the cerebriform connective tissue nevus in Proteus syndrome.

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:

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April 2018

Clinical and risk factor analysis of cloacal defects in the National Birth Defects Prevention Study.

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.

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November 2017

Characterization of thrombosis in patients with Proteus syndrome.

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.

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September 2017

37th Annual David W. Smith Workshop on Malformations and Morphogenesis: Abstracts of the 2016 Annual Meeting.

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.

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August 2017

Mosaic Disorders of the PI3K/PTEN/AKT/TSC/mTORC1 Signaling Pathway.

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:

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January 2017

Somatic AKT1 mutations cause meningiomas colocalizing with a characteristic pattern of cranial hyperostosis.

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.

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October 2016

Twinning and major birth defects, National Birth Defects Prevention Study, 1997-2007.

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.

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November 2016

A Point Mutation in PDGFRB Causes Autosomal-Dominant Penttinen Syndrome.

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:

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September 2015

Risk factors for Dandy-Walker malformation: a population-based assessment.

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.

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September 2015

Exome sequencing identifies novel mutations in C5orf42 in patients with Joubert syndrome with oral-facial-digital anomalies.

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.

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April 2016

Cognitive, sensory, and psychosocial characteristics in patients with Bardet-Biedl syndrome.

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.

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December 2013

Deletion 16p13.11 uncovers NDE1 mutations on the non-deleted homolog and extends the spectrum of severe microcephaly to include fetal brain disruption.

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.

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July 2013

Functional analysis of a de novo ACTB mutation in a patient with atypical Baraitser-Winter syndrome.

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.

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September 2013

Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams-Oliver syndrome.

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.

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April 2013

Apparent germline mosaicism for a novel 19p13.13 deletion disrupting NFIX and CACNA1A.

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.

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May 2013

A novel 4p16.3 microduplication distal to WHSC1 and WHSC2 characterized by oligonucleotide array with new phenotypic features.

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.

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September 2011

Brain tissue- and region-specific abnormalities on volumetric MRI scans in 21 patients with Bardet-Biedl syndrome (BBS).

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.

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July 2011

Clinical insights gained from eight new cases and review of reported cases with Jeune syndrome (asphyxiating thoracic dystrophy).

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.

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May 2011

Binder phenotype: associated findings and etiologic mechanisms.

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

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

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September 2010

Syndrome of congenital cataracts, sensorineural deafness, Down syndrome-like facial appearance, short stature, and mental retardation: two additional cases.

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.

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November 2007

Prenatal ascertainment of OEIS complex/cloacal exstrophy - 15 new cases and literature review.

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.

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September 2007

Behavioral management of a long-term survivor with tetrasomy 18p.

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.

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February 2006

In vitro fertilization is associated with an increase in major birth defects.

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.

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November 2005

Guidelines for case classification for the National Birth Defects Prevention Study.

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.

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March 2003