Leah W Burke

Leah W Burke

UNVERIFIED PROFILE

Are you Leah W Burke?   Register this Author

Register author
Leah W Burke

Leah W Burke

Publications by authors named "Leah W Burke"

Are you Leah W Burke?   Register this Author

8Publications

205Reads

49Profile Views

Utilizing RNA and outlier analysis to identify an intronic splice-altering variant in AP4S1 in a sibling pair with progressive spastic paraplegia.

Authors:
Carmel G McCullough Szabolcs Szelinger Newell Belnap Keri Ramsey Isabelle Schrauwen Ana M Claasen Leah W Burke Ashley L Siniard Matthew J Huentelman Vinodh Narayanan David W Craig

Hum Mutat 2019 Oct 29. Epub 2019 Oct 29.

Department of Translational Genomics, University of Southern California, Los Angeles, California.

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1002/humu.23939DOI Listing
October 2019

Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.

Authors:
Magdalena Koczkowska Tom Callens Alicia Gomes Angela Sharp Yunjia Chen Alesha D Hicks Arthur S Aylsworth Amedeo A Azizi Donald G Basel Gary Bellus Lynne M Bird Maria A Blazo Leah W Burke Ashley Cannon Felicity Collins Colette DeFilippo Ellen Denayer Maria C Digilio Shelley K Dills Laura Dosa Robert S Greenwood Cristin Griffis Punita Gupta Rachel K Hachen Concepción Hernández-Chico Sandra Janssens Kristi J Jones Justin T Jordan Peter Kannu Bruce R Korf Andrea M Lewis Robert H Listernick Fortunato Lonardo Maurice J Mahoney Mayra Martinez Ojeda Marie T McDonald Carey McDougall Nancy Mendelsohn David T Miller Mari Mori Rianne Oostenbrink Sebastién Perreault Mary Ella Pierpont Carmelo Piscopo Dinel A Pond Linda M Randolph Katherine A Rauen Surya Rednam S Lane Rutledge Veronica Saletti G Bradley Schaefer Elizabeth K Schorry Daryl A Scott Andrea Shugar Elizabeth Siqveland Lois J Starr Ashraf Syed Pamela L Trapane Nicole J Ullrich Emily G Wakefield Laurence E Walsh Michael F Wangler Elaine Zackai Kathleen B M Claes Katharina Wimmer Rick van Minkelen Alessandro De Luca Yolanda Martin Eric Legius Ludwine M Messiaen

Genet Med 2019 04 7;21(4):867-876. Epub 2018 Sep 7.

Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1038/s41436-018-0269-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752285PMC
April 2019

Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.

Authors:
Magdalena Koczkowska Tom Callens Alicia Gomes Angela Sharp Yunjia Chen Alesha D Hicks Arthur S Aylsworth Amedeo A Azizi Donald G Basel Gary Bellus Lynne M Bird Maria A Blazo Leah W Burke Ashley Cannon Felicity Collins Colette DeFilippo Ellen Denayer Maria C Digilio Shelley K Dills Laura Dosa Robert S Greenwood Cristin Griffis Punita Gupta Rachel K Hachen Concepción Hernández-Chico Sandra Janssens Kristi J Jones Justin T Jordan Peter Kannu Bruce R Korf Andrea M Lewis Robert H Listernick Fortunato Lonardo Maurice J Mahoney Mayra Martinez Ojeda Marie T McDonald Carey McDougall Nancy Mendelsohn David T Miller Mari Mori Rianne Oostenbrink Sebastién Perreault Mary Ella Pierpont Carmelo Piscopo Dinel A Pond Linda M Randolph Katherine A Rauen Surya Rednam S Lane Rutledge Veronica Saletti G Bradley Schaefer Elizabeth K Schorry Daryl A Scott Andrea Shugar Elizabeth Siqveland Lois J Starr Ashraf Syed Pamela L Trapane Nicole J Ullrich Emily G Wakefield Laurence E Walsh Michael F Wangler Elaine Zackai Kathleen B M Claes Katharina Wimmer Rick van Minkelen Alessandro De Luca Yolanda Martin Eric Legius Ludwine M Messiaen

Genet Med 2019 03;21(3):764-765

Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA.

View Article

Download full-text PDF

 Source
http://www.nature.com/articles/s41436-018-0326-8
Publisher Site
http://dx.doi.org/10.1038/s41436-018-0326-8DOI Listing
March 2019

The Undergraduate Training in Genomics (UTRIG) Initiative: early & active training for physicians in the genomic medicine era.

Authors:
Rebecca L Wilcox Patricia V Adem Ebrahim Afshinnekoo James B Atkinson Leah W Burke Hoiwan Cheung Shoumita Dasgupta Julia DeLaGarza Loren Joseph Robin LeGallo Madelyn Lew Christina M Lockwood Alice Meiss Jennifer Norman Priscilla Markwood Hasan Rizvi Kate P Shane-Carson Mark E Sobel Eric Suarez Laura J Tafe Jason Wang Richard L Haspel

Per Med 2018 05 30;15(3):199-208. Epub 2018 May 30.

Department of Pathology, Beth Israel Deaconess Medical Center & Harvard Medical School, Boston, MA, 02115, USA.

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.2217/pme-2017-0077DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6008245PMC
May 2018

Tissue Specificity in Trisomy 22 Mosaicism: A Tale of Caution for Interpretation of Chromosomal Microarray Results.

Authors:
Jeffrey D Covington Calista Campbell Leah W Burke Juli-Anne Gardner

J Assoc Genet Technol 2018 ;44(4):137-140

Department of Pathology and Laboratory Medicine, University of Vermont Medical Center, Burlington, VT.

View Article

Download full-text PDF

 Source
January 2018

Disclosure of Genome Sequencing Results: Are Pediatricians Ready?

Authors:
Leah W Burke

Pediatrics 2015 Oct 14;136(4):e1005-6. Epub 2015 Sep 14.

The University of Vermont College of Medicine, Burlington, Vermont

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1542/peds.2015-1740DOI Listing
October 2015

Familial unilateral ectopia lentis.

Authors:
John W Simon Jeremy M Cotliar Leah W Burke

J AAPOS 2007 Dec 27;11(6):620-1. Epub 2007 Aug 27.

Albany Medical College, Department of Ophthalmology, Lions Eye Institute, Slingerlands, NY 12159, USA.

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1016/j.jaapos.2007.05.008DOI Listing
December 2007

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

Authors:
Margaret P Adam Raoul C M Hennekam Laura Davis Keppen Marilyn J Bull Carol L Clericuzio Leah W Burke Kelly E Ormond Eugene H Hoyme

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

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

View Article

Download full-text PDF

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