Publications by authors named "Eyby Leon"

26Publications

Unique skeletal manifestations in patients with Primrose syndrome.

Eur J Med Genet 2020 Aug 27;63(8):103967. Epub 2020 May 27.

Institute of Medical Genetics and Genomics, New Delhi, India. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2020.103967DOI Listing
August 2020

Evidence of GMPPA founder mutation in indigenous Guatemalan population associated with alacrima, achalasia, and mental retardation syndrome.

Am J Med Genet A 2020 03 3;182(3):425-430. Epub 2020 Jan 3.

Rare Disease Institute, Children's National Health System, Washington, District of Columbia.

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http://dx.doi.org/10.1002/ajmg.a.61476DOI Listing
March 2020

Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency.

Am J Hum Genet 2020 01 19;106(1):92-101. Epub 2019 Dec 19.

Wellcome Centre for Mitochondrial Research, Newcastle University, Framlington Place, Newcastle upon Tyne, NE2 4HH, UK; NHS Highly Specialised Services for Rare Mitochondrial Disorders, Royal Victoria Infirmary, Newcastle upon Tyne Hospitals NHS Foundation Trust, Queen Victoria Road, Newcastle upon Tyne, NE1 4LP, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.12.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7042492PMC
January 2020

TFE3-associated neurodevelopmental disorder: A distinct recognizable syndrome.

Am J Med Genet A 2020 03 12;182(3):584-590. Epub 2019 Dec 12.

Clinical Genetics, Rare Disease Institute, Children's National Health System, Washington, District of Columbia.

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http://dx.doi.org/10.1002/ajmg.a.61437DOI Listing
March 2020

Extending the phenotypic spectrum of Bohring-Opitz syndrome: Mild case confirmed by functional studies.

Am J Med Genet A 2020 01 6;182(1):201-204. Epub 2019 Nov 6.

Department of Genetics, Microbiology and Statistics, Faculty of Biology, IBUB, IRSJD, CIBERER, University of Barcelona, Barcelona, Spain.

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http://dx.doi.org/10.1002/ajmg.a.61397DOI Listing
January 2020

MAP1B related syndrome: Case presentation and review of literature.

Am J Med Genet A 2019 09 17;179(9):1703-1708. Epub 2019 Jul 17.

Rare Disease Institute, Children's National Health System, Washington, District of Columbia.

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http://dx.doi.org/10.1002/ajmg.a.61280DOI Listing
September 2019

Extending the phenotypic spectrum of Sengers syndrome: Congenital lactic acidosis with synthetic liver dysfunction.

Transl Sci Rare Dis 2018 Apr 13;3(1):45-48. Epub 2018 Apr 13.

Children's National Health System, Rare Disease Institute, Genetics and Metabolism, Washington, DC, USA.

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http://dx.doi.org/10.3233/TRD-180020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5904566PMC
April 2018

Biotin-thiamine responsive basal ganglia disease: Identification of a pyruvate peak on brain spectroscopy, novel mutation in SLC19A3, and calculation of prevalence based on allele frequencies from aggregated next-generation sequencing data.

Am J Med Genet A 2017 Jun 12;173(6):1502-1513. Epub 2017 Apr 12.

Division of Genetics and Metabolism, Children's National Health System, Washington, District of Columbia.

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http://dx.doi.org/10.1002/ajmg.a.38189DOI Listing
June 2017

Concurrent diagnoses of Prader-Willi syndrome and GM2 gangliosidosis caused by uniparental disomy of chromosome 15.

Am J Med Genet A 2015 Aug 21;167A(8):1944-8. Epub 2015 Apr 21.

Division of Genetics and Metabolism, Children's National Medical Center, Washington, DC.

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http://dx.doi.org/10.1002/ajmg.a.37090DOI Listing
August 2015

Biochemical abnormalities in Pearson syndrome.

Am J Med Genet A 2015 Mar;167A(3):621-8

Department of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, Utah; University of Milano, Milan, Italy.

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http://doi.wiley.com/10.1002/ajmg.a.36939
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http://dx.doi.org/10.1002/ajmg.a.36939DOI Listing
March 2015

Mutations in NOTCH1 cause Adams-Oliver syndrome.

Am J Hum Genet 2014 Sep 14;95(3):275-84. Epub 2014 Aug 14.

Department of Medical Genetics and Child and Family Research Institute, University of British Columbia, Vancouver, BC V6H 3N1, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2014.07.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4157158PMC
September 2014

Expansion of the TARP syndrome phenotype associated with de novo mutations and mosaicism.

Am J Med Genet A 2014 Jan 20;164A(1):120-8. Epub 2013 Nov 20.

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

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http://dx.doi.org/10.1002/ajmg.a.36212DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4443488PMC
January 2014

A de novo T73I mutation in PTPN11 in a neonate with severe and prolonged congenital thrombocytopenia and Noonan syndrome.

Neonatology 2013 22;104(1):1-5. Epub 2013 Feb 22.

Department of Women and Newborns, Intermountain Healthcare,University of Utah School of Medicine, Salt Lake City, Utah 84403, USA.

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http://dx.doi.org/10.1159/000346375DOI Listing
January 2014

RASA1 analysis guides management in a family with capillary malformation-arteriovenous malformation.

J Pediatr Genet 2012 Jun;1(2):125-9

Center for Human Genetics, Boston University School of Medicine, Boston, MA, USA; Departments of Pediatrics/Genetics and Genomics, Boston University School of Medicine, Boston, MA, USA.

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http://dx.doi.org/10.3233/PGE-2012-020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5021014PMC
June 2012

Partial trisomy 8 mosaicism due to a pseudoisodicentric chromosome 8.

Am J Med Genet A 2011 Jul 10;155A(7):1740-4. Epub 2011 Jun 10.

Center for Human Genetics, Boston University School of Medicine, Massachusetts, USA.

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http://dx.doi.org/10.1002/ajmg.a.34073DOI Listing
July 2011

Mosaic Down syndrome in a patient with low-level mosaicism detected by microarray.

Am J Med Genet A 2010 Dec;152A(12):3154-6

Center for Human Genetics, Boston University School of Medicine, Boston, Massachusetts 02118, USA.

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http://dx.doi.org/10.1002/ajmg.a.33739DOI Listing
December 2010