Laura Davis-Keppen

Laura Davis-Keppen

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Laura Davis-Keppen

Laura Davis-Keppen

Publications by authors named "Laura Davis-Keppen"

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14Publications

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Case Report of Infant With Features of Beckwith-Wiedemann Syndrome Diagnosed With Genome-wide Uniparental Disomy.

S D Med 2017 Nov;70(11):505-509

University of South Dakota Sanford School of Medicine.

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November 2017

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.

Authors:
Fadi F Hamdan Candace T Myers Patrick Cossette Philippe Lemay Dan Spiegelman Alexandre Dionne Laporte Christina Nassif Ousmane Diallo Jean Monlong Maxime Cadieux-Dion Sylvia Dobrzeniecka Caroline Meloche Kyle Retterer Megan T Cho Jill A Rosenfeld Weimin Bi Christine Massicotte Marguerite Miguet Ledia Brunga Brigid M Regan Kelly Mo Cory Tam Amy Schneider Georgie Hollingsworth David R FitzPatrick Alan Donaldson Natalie Canham Edward Blair Bronwyn Kerr Andrew E Fry Rhys H Thomas Joss Shelagh Jane A Hurst Helen Brittain Moira Blyth Robert Roger Lebel Erica H Gerkes Laura Davis-Keppen Quinn Stein Wendy K Chung Sara J Dorison Paul J Benke Emily Fassi Nicole Corsten-Janssen Erik-Jan Kamsteeg Frederic T Mau-Them Ange-Line Bruel Alain Verloes Katrin Õunap Monica H Wojcik Dara V F Albert Sunita Venkateswaran Tyson Ware Dean Jones Yu-Chi Liu Shekeeb S Mohammad Peyman Bizargity Carlos A Bacino Vincenzo Leuzzi Simone Martinelli Bruno Dallapiccola Marco Tartaglia Lubov Blumkin Klaas J Wierenga Gabriela Purcarin James J O'Byrne Sylvia Stockler Anna Lehman Boris Keren Marie-Christine Nougues Cyril Mignot Stéphane Auvin Caroline Nava Susan M Hiatt Martina Bebin Yunru Shao Fernando Scaglia Seema R Lalani Richard E Frye Imad T Jarjour Stéphanie Jacques Renee-Myriam Boucher Emilie Riou Myriam Srour Lionel Carmant Anne Lortie Philippe Major Paola Diadori François Dubeau Guy D'Anjou Guillaume Bourque Samuel F Berkovic Lynette G Sadleir Philippe M Campeau Zoha Kibar Ronald G Lafrenière Simon L Girard Saadet Mercimek-Mahmutoglu Cyrus Boelman Guy A Rouleau Ingrid E Scheffer Heather C Mefford Danielle M Andrade Elsa Rossignol Berge A Minassian Jacques L Michaud

Am J Hum Genet 2017 Nov;101(5):664-685

Centre Hospitalier Universitaire Sainte-Justine Research Center, Montreal, QC H3T1C5, Canada; Department of Neurosciences, Université de Montréal, Montreal, QC H3T1J4, Canada; Department of Pediatrics, Université de Montréal, Montreal, QC H3T1C5, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.09.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5673604PMC
November 2017

Early Hearing Loss Detection and Intervention in South Dakota.

S D Med 2017 Jan;70(1):16-20

University of South Dakota Sanford School of Medicine.

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January 2017

Congenital nasal pyriform aperture stenosis and ocular albinism co-occurring in a sibship with a maternally-inherited 97 kb Xp22.2 microdeletion.

Am J Med Genet A 2014 May 29;164A(5):1268-71. Epub 2014 Jan 29.

Sanford School of Medicine of the University of South Dakota, Sioux Falls, South Dakota.

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http://dx.doi.org/10.1002/ajmg.a.36415DOI Listing
May 2014

Mutations in VLDLR associated with ataxia with secondary vitamin E deficiency.

Mov Disord 2013 Nov 27;28(13):1904-5. Epub 2013 Jun 27.

Sanford Children's Health Research Center, Sioux Falls, South Dakota, USA; Sanford Children's Specialty Clinic, Sioux Falls, South Dakota, USA.

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http://dx.doi.org/10.1002/mds.25573DOI Listing
November 2013

Sani-cloth wipe mimics rare enzyme deficiency malonic aciduria on newborn screen.

Pediatrics 2012 Nov 15;130(5):e1363-8. Epub 2012 Oct 15.

Department of Pathology, Sanford School of Medicine of the University of South Dakota, Sioux Falls, South Dakota 57105, USA.

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http://pediatrics.aappublications.org/content/pediatrics/ear
Web Search
http://pediatrics.aappublications.org/cgi/doi/10.1542/peds.2
Publisher Site
http://dx.doi.org/10.1542/peds.2012-0569DOI Listing
November 2012

Bowen-Conradi: a common Hutterite condition that mimics trisomy 18.

S D Med 2012 Jun;65(6):221-3, 225

Sanford Health, Sioux Falls, SD, USA.

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June 2012

Clinical course of a 20-month-old child diagnosed prenatally with mosaic ring chromosome 18 and monosomy 18.

S D Med 2008 Sep;61(9):327-9, 331

Sanford School of Medicine of The University of South Dakota, Sioux Falls, SD, USA.

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September 2008

Marshall-Smith syndrome: natural history and evidence of an osteochondrodysplasia with connective tissue abnormalities.

Am J Med Genet A 2005 Aug;137(2):117-24

Department of Pediatrics, Stanford University School of Medicine, Stanford, California, USA.

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http://dx.doi.org/10.1002/ajmg.a.30580DOI Listing
August 2005