Kim Keppler-Noreuil

Kim Keppler-Noreuil

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Kim Keppler-Noreuil

Kim Keppler-Noreuil

Publications by authors named "Kim Keppler-Noreuil"

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A mouse model of Proteus syndrome.

Authors:
Marjorie J Lindhurst Lauren R Brinster Hannah C Kondolf Jasmine J Shwetar Miranda R Yourick Henoke Shiferaw Kim M Keppler-Noreuil Gene Elliot Cecilia Rivas Lisa Garrett Julio Gomez-Rodriguez Neil J Sebire Stephen M Hewitt Pamela L Schwartzberg Leslie G Biesecker

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

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

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http://dx.doi.org/10.1093/hmg/ddz116DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6736390PMC
September 2019

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

Authors:
Kim M Keppler-Noreuil Jay Lozier Neal Oden Anjali Taneja Jasmine Burton-Akright Julie C Sapp Leslie G Biesecker

Am J Med Genet C Semin Med Genet 2019 Sep 6. 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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http://dx.doi.org/10.1002/ajmg.c.31735DOI Listing
September 2019

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

Authors:
Kim M Keppler-Noreuil Jasmine Burton-Akright Marjorie J Lindhurst Jasmine Shwetar Julie C Sapp Thomas Darling Leslie G Biesecker

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

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

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http://dx.doi.org/10.1101/mcs.a004036DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6672027PMC
August 2019

Exome sequencing of family trios from the National Birth Defects Prevention Study: Tapping into a rich resource of genetic and environmental data.

Authors:
Mary M Jenkins Lynn M Almli Faith Pangilinan Jessica X Chong Elizabeth E Blue Stuart K Shapira Janson White Daniel McGoldrick Joshua D Smith James C Mullikin Christopher J Bean Wendy N Nembhard Xiang-Yang Lou Gary M Shaw Paul A Romitti Kim Keppler-Noreuil Mahsa M Yazdy Denise M Kay Tonia C Carter Andrew F Olshan Kristin J Moore Nanette Nascone-Yoder Richard H Finnell Philip J Lupo Marcia L Feldkamp Deborah A Nickerson Michael J Bamshad Lawrence C Brody Jennita Reefhuis

Birth Defects Res 2019 Jul 21. Epub 2019 Jul 21.

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

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http://dx.doi.org/10.1002/bdr2.1554DOI Listing
July 2019

Safety and efficacy of low-dose sirolimus in the PIK3CA-related overgrowth spectrum.

Authors:
Victoria E R Parker Kim M Keppler-Noreuil Laurence Faivre Maxime Luu Neal L Oden Leena De Silva Julie C Sapp Katrina Andrews Marc Bardou Kong Y Chen Thomas N Darling Elodie Gautier Barry R Goldspiel Smail Hadj-Rabia Julie Harris Georgios Kounidas Parag Kumar Marjorie J Lindhurst Romaric Loffroy Ludovic Martin Alice Phan Kristina I Rother Brigitte C Widemann Pamela L Wolters Christine Coubes Lucile Pinson Marjolaine Willems Catherine Vincent-Delorme Pierre Vabres Robert K Semple Leslie G Biesecker

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.

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http://dx.doi.org/10.1038/s41436-018-0297-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752269PMC
May 2019

Pharmacodynamic Study of Miransertib in Individuals with Proteus Syndrome.

Authors:
Kim M Keppler-Noreuil Julie C Sapp Marjorie J Lindhurst Thomas N Darling Jasmine Burton-Akright Mohammadhadi Bagheri Eva Dombi Ashlyn Gruber Paul F Jarosinski Staci Martin Neera Nathan Scott M Paul Ronald E Savage Pamela L Wolters Brian Schwartz Brigitte C Widemann Leslie G Biesecker

Am J Hum Genet 2019 Mar 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:

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http://dx.doi.org/10.1016/j.ajhg.2019.01.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6407523PMC
March 2019

Diagnosis and clinical delineation of mosaic tetrasomy 5p.

Authors:
Sophia Blakey-Cheung Pamela Parker William Schlaff Brent Monseur Kim Keppler-Noreuil Huda B Al-Kouatly

Eur J Med Genet 2019 Feb 21. 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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http://dx.doi.org/10.1016/j.ejmg.2019.02.006DOI Listing
February 2019

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

Authors:
Varun Takyar Divya Khattar Alexander Ling Rachna Patel Julie C Sapp Sun A Kim Sungyoung Auh Leslie G Biesecker Kim M Keppler-Noreuil Theo Heller

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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http://dx.doi.org/10.1002/ajmg.a.40636DOI Listing
December 2018

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

Authors:
Meredith M Howley Kim M Keppler-Noreuil Christopher M Cunniff Marilyn L Browne

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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http://dx.doi.org/10.1002/bdr2.1388DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6265081PMC
November 2018

Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy.

Authors:
Lara Al-Olabi Satyamaanasa Polubothu Katherine Dowsett Katrina A Andrews Paulina Stadnik Agnel P Joseph Rachel Knox Alan Pittman Graeme Clark William Baird Neil Bulstrode Mary Glover Kristiana Gordon Darren Hargrave Susan M Huson Thomas S Jacques Gregory James Hannah Kondolf Loshan Kangesu Kim M Keppler-Noreuil Amjad Khan Marjorie J Lindhurst Mark Lipson Sahar Mansour Justine O'Hara Caroline Mahon Anda Mosica Celia Moss Aditi Murthy Juling Ong Victoria E Parker Jean-Baptiste Rivière Julie C Sapp Neil J Sebire Rahul Shah Branavan Sivakumar Anna Thomas Alex Virasami Regula Waelchli Zhiqiang Zeng Leslie G Biesecker Alex Barnacle Maya Topf Robert K Semple E Elizabeth Patton Veronica A Kinsler

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

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https://www.jci.org/articles/view/124649
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http://dx.doi.org/10.1172/JCI124649DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6205386PMC
November 2018

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

Authors:
Marta Biderman Waberski Marjorie Lindhurst Kim M Keppler-Noreuil Julie C Sapp Laura Baker Karen W Gripp Denise M Adams Leslie G Biesecker

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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http://dx.doi.org/10.1038/gim.2017.228DOI Listing
September 2018

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

Authors:
Neera R Nathan Rachna Patel Molly M Crenshaw Marjorie J Lindhurst Cara Olsen Leslie G Biesecker Kim M Keppler-Noreuil Thomas N Darling

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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https://linkinghub.elsevier.com/retrieve/pii/S01909622173254
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http://dx.doi.org/10.1016/j.jaad.2017.10.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5857242PMC
April 2018

Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy.

Authors:
Lara Al-Olabi Satyamaanasa Polubothu Katherine Dowsett Katrina A Andrews Paulina Stadnik Agnel P Joseph Rachel Knox Alan Pittman Graeme Clark William Baird Neil Bulstrode Mary Glover Kristiana Gordon Darren Hargrave Susan M Huson Thomas S Jacques Gregory James Hannah Kondolf Loshan Kangesu Kim M Keppler-Noreuil Amjad Khan Marjorie J Lindhurst Mark Lipson Sahar Mansour Justine O'Hara Caroline Mahon Anda Mosica Celia Moss Aditi Murthy Juling Ong Victoria E Parker Jean-Baptiste Rivière Julie C Sapp Neil J Sebire Rahul Shah Branavan Sivakumar Anna Thomas Alex Virasami Regula Waelchli Zhiqiang Zeng Leslie G Biesecker Alex Barnacle Maya Topf Robert K Semple E Elizabeth Patton Veronica A Kinsler

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.

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http://dx.doi.org/10.1172/JCI98589DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5873857PMC
April 2018

Orthopaedic Management of Leg-length Discrepancy in Proteus Syndrome: A Case Series.

Authors:
Molly M Crenshaw Cara G Goerlich Lauren E Ivey Julie C Sapp Kim M Keppler-Noreuil Allison C Scott Leslie G Biesecker Laura L Tosi

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

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

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http://dx.doi.org/10.1097/BPO.0000000000001121DOI Listing
March 2018

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

Authors:
Kim M Keppler-Noreuil Kristin M Conway Dereck Shen Anthony J Rhoads John C Carey Paul A Romitti

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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http://dx.doi.org/10.1002/ajmg.a.38469DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5650529PMC
November 2017

Characterization of thrombosis in patients with Proteus syndrome.

Authors:
Kim M Keppler-Noreuil Jay N Lozier Julie C Sapp Leslie G Biesecker

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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http://dx.doi.org/10.1002/ajmg.a.38311DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5592090PMC
September 2017

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

Authors:
Kim M Keppler-Noreuil Julian A Martinez-Agosto Louanne Hudgins John C Carey

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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http://doi.wiley.com/10.1002/ajmg.a.38229
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http://dx.doi.org/10.1002/ajmg.a.38229DOI Listing
August 2017

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

Authors:
Neera Nathan Kim M Keppler-Noreuil Leslie G Biesecker Joel Moss Thomas N Darling

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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https://linkinghub.elsevier.com/retrieve/pii/S07338635163007
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http://dx.doi.org/10.1016/j.det.2016.07.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5130114PMC
January 2017

Somatic overgrowth disorders of the PI3K/AKT/mTOR pathway & therapeutic strategies.

Authors:
Kim M Keppler-Noreuil Victoria E R Parker Thomas N Darling Julian A Martinez-Agosto

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

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http://dx.doi.org/10.1002/ajmg.c.31531DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5592089PMC
December 2016

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

Authors:
April L Dawson Sarah C Tinker Denise J Jamieson Charlotte A Hobbs R J Berry Sonja A Rasmussen Marlene Anderka Kim M Keppler-Noreuil Angela E Lin Jennita Reefhuis

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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http://press.psprings.co.uk/jech/june/jech206302.pdf
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http://jech.bmj.com/lookup/doi/10.1136/jech-2015-206302
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http://dx.doi.org/10.1136/jech-2015-206302DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5299593PMC
November 2016

Nephroblastomatosis or Wilms tumor in a fourth patient with a somatic PIK3CA mutation.

Authors:
Karen W Gripp Laura Baker Vinay Kandula Katrina Conard Mena Scavina Joseph A Napoli Gregory C Griffin Mihir Thacker Rachel G Knox Graeme R Clark Victoria E R Parker Robert Semple Ghayda Mirzaa Kim M Keppler-Noreuil

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.

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http://dx.doi.org/10.1002/ajmg.a.37758DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5514817PMC
October 2016

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

Authors:
Kim M Keppler-Noreuil Eva H Baker Julie C Sapp Marjorie J Lindhurst Leslie G Biesecker

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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http://dx.doi.org/10.1002/ajmg.a.37737DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5580816PMC
October 2016

The Fourth International Symposium on Genetic Disorders of the Ras/MAPK pathway.

Authors:
David A Stevenson Lisa Schill Lisa Schoyer Brage S Andresen Annette Bakker Pinar Bayrak-Toydemir Emma Burkitt-Wright Kathryn Chatfield Florent Elefteriou Ype Elgersma Michael J Fisher David Franz Bruce D Gelb Anne Goriely Karen W Gripp Antonio Y Hardan Kim M Keppler-Noreuil Bronwyn Kerr Bruce Korf Chiara Leoni Frank McCormick Scott R Plotkin Katherine A Rauen Karlyne Reilly Amy Roberts Abby Sandler Dawn Siegel Karin Walsh Brigitte C Widemann

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

National Cancer Institute, NIH, Bethesda, Maryland.

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http://dx.doi.org/10.1002/ajmg.a.37723DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4945362PMC
August 2016

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

Authors:
Ingrid M Wentzensen Jennifer J Johnston Kim Keppler-Noreuil Karina Acrich Karen David Kisha D Johnson John M Graham Julie C Sapp Leslie G Biesecker

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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http://dx.doi.org/10.1038/hgv.2015.45DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785546PMC
April 2016

Genetics of Bladder-Exstrophy-Epispadias Complex (BEEC): Systematic Elucidation of Mendelian and Multifactorial Phenotypes.

Authors:
Heiko Reutter Kim Keppler-Noreuil Catherine E Keegan Holger Thiele Gen Yamada Michael Ludwig

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

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

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http://dx.doi.org/10.2174/1389202916666151014221806DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4780475PMC
February 2016

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

Authors:
Matthew R Reeder Lorenzo D Botto Kim M Keppler-Noreuil John C Carey Janice L B Byrne Marcia L Feldkamp

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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http://dx.doi.org/10.1002/ajmg.a.37124DOI Listing
September 2015

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

Authors:
Jennifer J Johnston Monica Y Sanchez-Contreras Kim M Keppler-Noreuil Julie Sapp Molly Crenshaw NiCole A Finch Valerie Cormier-Daire Rosa Rademakers Virginia P Sybert Leslie G Biesecker

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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http://www.cell.com/ajhg/pdf/S0002-9297(15)00285-2.pdf
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http://linkinghub.elsevier.com/retrieve/pii/S000292971500285
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http://dx.doi.org/10.1016/j.ajhg.2015.07.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4564935PMC
September 2015

Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies.

Authors:
Marcello Niceta Emilia Stellacci Karen W Gripp Giuseppe Zampino Maria Kousi Massimiliano Anselmi Alice Traversa Andrea Ciolfi Deborah Stabley Alessandro Bruselles Viviana Caputo Serena Cecchetti Sabrina Prudente Maria T Fiorenza Carla Boitani Nicole Philip Dmitriy Niyazov Chiara Leoni Takaya Nakane Kim Keppler-Noreuil Stephen R Braddock Gabriele Gillessen-Kaesbach Antonio Palleschi Philippe M Campeau Brendan H L Lee Celio Pouponnot Lorenzo Stella Gianfranco Bocchinfuso Nicholas Katsanis Katia Sol-Church Marco Tartaglia

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:

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http://dx.doi.org/10.1016/j.ajhg.2015.03.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4570552PMC
May 2015

MATR3 disruption in human and mouse associated with bicuspid aortic valve, aortic coarctation and patent ductus arteriosus.

Authors:
Fabiola Quintero-Rivera Qiongchao J Xi Kim M Keppler-Noreuil Ji Hyun Lee Anne W Higgins Raymond M Anchan Amy E Roberts Ihn Sik Seong Xueping Fan Kasper Lage Lily Y Lu Joanna Tao Xuchen Hu Ronald Berezney Bruce D Gelb Anna Kamp Ivan P Moskowitz Ronald V Lacro Weining Lu Cynthia C Morton James F Gusella Richard L Maas

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

Division of Genetics, Department of Medicine,

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http://dx.doi.org/10.1093/hmg/ddv004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4380077PMC
April 2015

PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation.

Authors:
Kim M Keppler-Noreuil Jonathan J Rios Victoria E R Parker Robert K Semple Marjorie J Lindhurst Julie C Sapp Ahmad Alomari Marybeth Ezaki William Dobyns Leslie G Biesecker

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.

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http://doi.wiley.com/10.1002/ajmg.a.36836
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http://dx.doi.org/10.1002/ajmg.a.36836DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4480633PMC
February 2015

Assessment of congenital anomalies in infants born to pregnant women enrolled in clinical trials.

Authors:
Sonja A Rasmussen Sonia Hernandez-Diaz Omar A Abdul-Rahman Leyla Sahin Carey R Petrie Kim M Keppler-Noreuil Sharon E Frey Robin M Mason Mirjana Nesin John C Carey

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

University of Utah School of Medicine, Salt Lake City.

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http://dx.doi.org/10.1093/cid/ciu738DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4303054PMC
December 2014

Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum.

Authors:
Kim M Keppler-Noreuil Julie C Sapp Marjorie J Lindhurst Victoria E R Parker Cathy Blumhorst Thomas Darling Laura L Tosi Susan M Huson Richard W Whitehouse Eveliina Jakkula Ian Grant Meena Balasubramanian Kate E Chandler Jamie L Fraser Zoran Gucev Yanick J Crow Leslie Manace Brennan Robin Clark Elizabeth A Sellars Loren D M Pena Vidya Krishnamurty Andrew Shuen Nancy Braverman Michael L Cunningham V Reid Sutton Velibor Tasic John M Graham Joseph Geer Alex Henderson Robert K Semple Leslie G Biesecker

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.

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http://dx.doi.org/10.1002/ajmg.a.36552DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4320693PMC
July 2014

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

Authors:
Danielle D Brinckman Kim M Keppler-Noreuil Catherine Blumhorst Leslie G Biesecker Julie C Sapp Jennifer J Johnston Edythe A Wiggs

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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http://doi.wiley.com/10.1002/ajmg.a.36245
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http://dx.doi.org/10.1002/ajmg.a.36245DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4419571PMC
December 2013

Sensenbrenner syndrome (Cranioectodermal dysplasia): clinical and molecular analyses of 39 patients including two new patients.

Authors:
Angela E Lin Avram Z Traum Inderneel Sahai Kim Keppler-Noreuil Mary K Kukolich Margaret P Adam Sjirk J Westra Heleen H Arts

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

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

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http://dx.doi.org/10.1002/ajmg.a.36265DOI Listing
November 2013

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

Authors:
Jennifer J Johnston Kuo-Kuang Wen Kim Keppler-Noreuil Melissa McKane Jessica L Maiers Alexander Greiner Julie C Sapp Kris A Demali Peter A Rubenstein Leslie G Biesecker

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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http://dx.doi.org/10.1002/humu.22350DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3745514PMC
September 2013

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

Authors:
Alex R Paciorkowski Kim Keppler-Noreuil Luther Robinson Christopher Sullivan Samin Sajan Susan L Christian Polina Bukshpun Stacy B Gabriel Joseph G Gleeson Elliott H Sherr William B Dobyns

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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http://dx.doi.org/10.1002/ajmg.a.35969DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3689850PMC
July 2013

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

Authors:
Manjunath Nimmakayalu V Kim Horton Ben Darbro Shivanand R Patil Hamza Alsayouf Kim Keppler-Noreuil Oleg A Shchelochkov

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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http://dx.doi.org/10.1002/ajmg.a.35790DOI Listing
May 2013

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

Authors:
Ranad Shaheen Mona Aglan Kim Keppler-Noreuil Eissa Faqeih Shinu Ansari Kim Horton Adel Ashour Maha S Zaki Fatema Al-Zahrani Anna M Cueto-González Ghada Abdel-Salam Samia Temtamy Fowzan S Alkuraya

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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http://dx.doi.org/10.1016/j.ajhg.2013.02.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3617382PMC
April 2013

Abnormal development of NG2+PDGFR-α+ neural progenitor cells leads to neonatal hydrocephalus in a ciliopathy mouse model.

Authors:
Calvin S Carter Timothy W Vogel Qihong Zhang Seongjin Seo Ruth E Swiderski Thomas O Moninger Martin D Cassell Daniel R Thedens Kim M Keppler-Noreuil Peggy Nopoulos Darryl Y Nishimura Charles C Searby Kevin Bugge Val C Sheffield

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.

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http://dx.doi.org/10.1038/nm.2996DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3684048PMC
December 2012

Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities.

Authors:
Lynn M Boyden Murim Choi Keith A Choate Carol J Nelson-Williams Anita Farhi Hakan R Toka Irina R Tikhonova Robert Bjornson Shrikant M Mane Giacomo Colussi Marcel Lebel Richard D Gordon Ben A Semmekrot Alain Poujol Matti J Välimäki Maria E De Ferrari Sami A Sanjad Michael Gutkin Fiona E Karet Joseph R Tucci Jim R Stockigt Kim M Keppler-Noreuil Craig C Porter Sudhir K Anand Margo L Whiteford Ira D Davis Stephanie B Dewar Alberto Bettinelli Jeffrey J Fadrowski Craig W Belsha Tracy E Hunley Raoul D Nelson Howard Trachtman Trevor R P Cole Maury Pinsk Detlef Bockenhauer Mohan Shenoy Priya Vaidyanathan John W Foreman Majid Rasoulpour Farook Thameem Hania Z Al-Shahrouri Jai Radhakrishnan Ali G Gharavi Beatrice Goilav Richard P Lifton

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.

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http://www.nature.com/doifinder/10.1038/nature10814
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http://dx.doi.org/10.1038/nature10814DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3278668PMC
January 2012

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

Authors:
Andrew B Cyr Manjunath Nimmakayalu Susannah Q Longmuir Shivanand R Patil Kim M Keppler-Noreuil Oleg A Shchelochkov

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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http://dx.doi.org/10.1002/ajmg.a.34120DOI Listing
September 2011

A mosaic activating mutation in AKT1 associated with the Proteus syndrome.

Authors:
Marjorie J Lindhurst Julie C Sapp Jamie K Teer Jennifer J Johnston Erin M Finn Kathryn Peters Joyce Turner Jennifer L Cannons David Bick Laurel Blakemore Catherine Blumhorst Knut Brockmann Peter Calder Natasha Cherman Matthew A Deardorff David B Everman Gretchen Golas Robert M Greenstein B Maya Kato Kim M Keppler-Noreuil Sergei A Kuznetsov Richard T Miyamoto Kurt Newman David Ng Kevin O'Brien Steven Rothenberg Douglas J Schwartzentruber Virender Singhal Roberto Tirabosco Joseph Upton Shlomo Wientroub Elaine H Zackai Kimberly Hoag Tracey Whitewood-Neal Pamela G Robey Pamela L Schwartzberg Thomas N Darling Laura L Tosi James C Mullikin Leslie G Biesecker

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

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

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http://dx.doi.org/10.1056/NEJMoa1104017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3170413PMC
August 2011

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

Authors:
Kim M Keppler-Noreuil Catherine Blumhorst Julie C Sapp Danielle Brinckman Jennifer Johnston Peggy C Nopoulos Leslie G Biesecker

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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http://dx.doi.org/10.1186/1471-2350-12-101DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3199749PMC
July 2011

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

Authors:
Kim M Keppler-Noreuil Margaret P Adam Judy Welch Ann Muilenburg Marcia C Willing

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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http://dx.doi.org/10.1002/ajmg.a.33892DOI Listing
May 2011

Comprehensive genetic analysis of OEIS complex reveals no evidence for a recurrent microdeletion or duplication.

Authors:
Christopher N Vlangos Amanda Siuniak Todd Ackley Hans van Bokhoven Joris Veltman Ram Iyer John M Park Kim Keppler-Noreuil Catherine E Keegan

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

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

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http://dx.doi.org/10.1002/ajmg.a.33757DOI Listing
January 2011

Binder phenotype: associated findings and etiologic mechanisms.

Authors:
Kim M Keppler-Noreuil Tanner J Wenzel

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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http://dx.doi.org/10.1097/SCS.0b013e3181ef2b71DOI Listing
September 2010

Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations.

Authors:
Sheila Unger Detlef Böhm Frank J Kaiser Silke Kaulfuss Wiktor Borozdin Karin Buiting Peter Burfeind Johann Böhm Francisco Barrionuevo Alexander Craig Kristi Borowski Kim Keppler-Noreuil Thomas Schmitt-Mechelke Bernhard Steiner Deborah Bartholdi Johannes Lemke Geert Mortier Richard Sandford Bernhard Zabel Andrea Superti-Furga Jürgen Kohlhase

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.

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http://dx.doi.org/10.1038/ng.86DOI Listing
March 2008

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

Authors:
Kim Keppler-Noreuil Judy Welch Katherine Baker-Lange

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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http://dx.doi.org/10.1002/ajmg.a.31990DOI Listing
November 2007

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

Authors:
Kim Keppler-Noreuil Sue Gorton Florence Foo Jerome Yankowitz Catherine Keegan

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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http://dx.doi.org/10.1002/ajmg.a.31897DOI Listing
September 2007

Clinical features and management issues in Mowat-Wilson syndrome.

Authors:
Margaret P Adam Susan Schelley Renata Gallagher April N Brady Kimberly Barr Bruce Blumberg Joseph T C Shieh John Graham Anne Slavotinek Madelena Martin Kim Keppler-Noreuil Andrea L Storm Louanne Hudgins

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

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

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http://dx.doi.org/10.1002/ajmg.a.31530DOI Listing
December 2006

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

Authors:
Hanes M Swingle Joel Ringdahl Royann Mraz Shivanand Patil Kim Keppler-Noreuil

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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http://dx.doi.org/10.1002/ajmg.a.31058DOI Listing
February 2006

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

Authors:
Christine K Olson Kim M Keppler-Noreuil Paul A Romitti William T Budelier Ginny Ryan Amy E T Sparks Bradley J Van Voorhis

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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http://dx.doi.org/10.1016/j.fertnstert.2005.03.086DOI Listing
November 2005

Craniosynostosis: another feature of the 22q11.2 deletion syndrome.

Authors:
Donna M McDonald-McGinn Karen W Gripp Richard E Kirschner Melissa K Maisenbacher Virginia Hustead Galen M Schauer Kim M Keppler-Noreuil Karen L Ciprero Patrick Pasquariello Don LaRossa Scott P Bartlett Linton A Whitaker Elaine H Zackai

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.

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http://dx.doi.org/10.1002/ajmg.a.30746DOI Listing
August 2005

Further delineation of Kabuki syndrome in 48 well-defined new individuals.

Authors:
Linlea Armstrong Azza Abd El Moneim Kirk Aleck David J Aughton Clarisse Baumann Stephen R Braddock Gabriele Gillessen-Kaesbach John M Graham Theresa A Grebe Karen W Gripp Bryan D Hall Raoul Hennekam Alasdair Hunter Kim Keppler-Noreuil Didier Lacombe Angela E Lin Jeffrey E Ming Nancy Mizue Kokitsu-Nakata Sarah M Nikkel Nicole Philip Annick Raas-Rothschild Annemarie Sommer Alain Verloes Claudia Walter Dagmar Wieczorek Marc S Williams Elaine Zackai Judith E Allanson

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

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

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http://dx.doi.org/10.1002/ajmg.a.30340DOI Listing
January 2005

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

Authors:
Sonja A Rasmussen Richard S Olney Lewis B Holmes Angela E Lin Kim M Keppler-Noreuil Cynthia A Moore

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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http://dx.doi.org/10.1002/bdra.10012DOI Listing
March 2003

Atypical Down syndrome phenotype with severe developmental delay, hypertonia, and seizures in a child with translocation trisomy 21.

Authors:
Kim M Keppler-Noreuil Judy L Welch Heather J Major Q Qiau Diane K Jordan Shivanand R Patil

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

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

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http://dx.doi.org/10.1017/s0012162201001670DOI Listing
January 2002