Publications by authors named "Deborah Barbouth"

29Publications

A founder noncoding GALT variant interfering with splicing causes galactosemia.

J Inherit Metab Dis 2020 Aug 3. Epub 2020 Aug 3.

Division of Clinical and Translational Genetics, Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, Florida, USA.

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http://dx.doi.org/10.1002/jimd.12293DOI Listing
August 2020

Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7.

Authors:
Laura Castilla-Vallmanya Kaja K Selmer Clémantine Dimartino Raquel Rabionet Bernardo Blanco-Sánchez Sandra Yang Margot R F Reijnders Antonie J van Essen Myriam Oufadem Magnus D Vigeland Barbro Stadheim Gunnar Houge Helen Cox Helen Kingston Jill Clayton-Smith Jeffrey W Innis Maria Iascone Anna Cereda Sara Gabbiadini Wendy K Chung Victoria Sanders Joel Charrow Emily Bryant John Millichap Antonio Vitobello Christel Thauvin Frederic Tran Mau-Them Laurence Faivre Gaetan Lesca Audrey Labalme Christelle Rougeot Nicolas Chatron Damien Sanlaville Katherine M Christensen Amelia Kirby Raymond Lewandowski Rachel Gannaway Maha Aly Anna Lehman Lorne Clarke Luitgard Graul-Neumann Christiane Zweier Davor Lessel Bernarda Lozic Ingvild Aukrust Ryan Peretz Robert Stratton Thomas Smol Anne Dieux-Coëslier Joanna Meira Elizabeth Wohler Nara Sobreira Erin M Beaver Jennifer Heeley Lauren C Briere Frances A High David A Sweetser Melissa A Walker Catherine E Keegan Parul Jayakar Marwan Shinawi Wilhelmina S Kerstjens-Frederikse Dawn L Earl Victoria M Siu Emma Reesor Tony Yao Robert A Hegele Olena M Vaske Shannon Rego Kevin A Shapiro Brian Wong Michael J Gambello Marie McDonald Danielle Karlowicz Roberto Colombo Alessandro Serretti Lynn Pais Anne O'Donnell-Luria Alison Wray Simon Sadedin Belinda Chong Tiong Y Tan John Christodoulou Susan M White Anne Slavotinek Deborah Barbouth Dayna Morel Swols Mélanie Parisot Christine Bole-Feysot Patrick Nitschké Véronique Pingault Arnold Munnich Megan T Cho Valérie Cormier-Daire Susanna Balcells Stanislas Lyonnet Daniel Grinberg Jeanne Amiel Roser Urreizti Christopher T Gordon

Genet Med 2020 Jul 7;22(7):1215-1226. Epub 2020 May 7.

Laboratory of embryology and genetics of human malformations, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France.

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http://dx.doi.org/10.1038/s41436-020-0792-7DOI Listing
July 2020

Arnold-Chiari type 1 malformation in Potocki-Lupski syndrome.

Am J Med Genet A 2019 07 8;179(7):1366-1370. Epub 2019 May 8.

Dr. John T. Macdonald Foundation Department of Human Genetics, Miller School of Medicine, University of Miami, Miami, Florida.

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http://dx.doi.org/10.1002/ajmg.a.61187DOI Listing
July 2019

Early-Onset Marfan Syndrome: A Case Series.

J Pediatr Genet 2019 Jun 2;8(2):86-90. Epub 2018 Nov 2.

Division of Pediatric Cardiology, Department of Pediatrics, Jackson Memorial Hospital, University of Miami, Miller School of Medicine, Miami, Florida, United States.

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http://dx.doi.org/10.1055/s-0038-1675338DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6499610PMC
June 2019

Infantile Onset Hypertrophic Cardiomyopathy Secondary to PRKAG2 Gene Mutation is Associated with Poor Prognosis.

J Pediatr Genet 2018 Dec 2;7(4):180-184. Epub 2018 Jun 2.

Division of Pediatric Cardiology, Department of Pediatrics, Jackson Memorial Hospital, University of Miami/Miller School of Medicine, Miami, Florida, United States.

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http://www.thieme-connect.de/DOI/DOI?10.1055/s-0038-1657763
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http://dx.doi.org/10.1055/s-0038-1657763DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6234042PMC
December 2018

Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia.

Am J Hum Genet 2018 05 12;102(5):744-759. Epub 2018 Apr 12.

Service de Génétique Médicale, CHU Nantes, 9 quai Moncousu, 44093 Nantes Cedex 1, France; l'institut du thorax, INSERM, CNRS, UNIV Nantes, 44007 Nantes, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.02.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5986661PMC
May 2018

Klinefelter Syndrome in Association with Tetralogy of Fallot and Congenital Diaphragmatic Hernia.

J Pediatr Genet 2017 Jun 3;6(2):115-117. Epub 2017 Jan 3.

Department of Human Genetics, University of Miami, Miller School of Medicine, Dr. John T. Macdonald Foundation, Miami, Florida, United States.

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http://dx.doi.org/10.1055/s-0036-1597932DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5423791PMC
June 2017

Causes of death in 184 patients with type 1 Gaucher disease from the United States who were never treated with enzyme replacement therapy.

Blood Cells Mol Dis 2018 02 24;68:211-217. Epub 2016 Oct 24.

Department of Pathology, University of Pittsburgh, PA 15261, USA. Electronic address:

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http://dx.doi.org/10.1016/j.bcmd.2016.10.002DOI Listing
February 2018

Fragile X syndrome: a review of associated medical problems.

Pediatrics 2014 Nov 6;134(5):995-1005. Epub 2014 Oct 6.

Departments of Pediatrics, Neurologic Sciences, and Biochemistry, Rush University Medical Center, Chicago, Illinois.

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http://dx.doi.org/10.1542/peds.2013-4301DOI Listing
November 2014

AGG interruptions and maternal age affect FMR1 CGG repeat allele stability during transmission.

J Neurodev Disord 2014 30;6(1):24. Epub 2014 Jul 30.

Department of Biochemistry and Molecular Medicine, University of California, Davis, School of Medicine, 2700 Stockton Blvd., Suite 2102, Sacramento, CA 95817, USA ; MIND Institute, University of California, Davis, School of Medicine, Davis, CA, USA.

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http://dx.doi.org/10.1186/1866-1955-6-24DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4126815PMC
August 2014

Patients with type 1 Gaucher disease in South Florida, USA: demographics, genotypes, disease severity and treatment outcomes.

Orphanet J Rare Dis 2014 Mar 31;9:45. Epub 2014 Mar 31.

Dr John T, Macdonald Foundation Department of Human Genetics, Miller School of Medicine, Miami, FL, USA.

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http://dx.doi.org/10.1186/1750-1172-9-45DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4230272PMC
March 2014

Frequent detection of parental consanguinity in children with developmental disorders by a combined CGH and SNP microarray.

Mol Cytogenet 2013 Sep 20;6(1):38. Epub 2013 Sep 20.

Department of Pathology and Mailman Center for Child Development, Room 7050, University of Miami Miller School of Medicine, 1601 NW 12th Avenue, Miami, FL 33136, USA.

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http://dx.doi.org/10.1186/1755-8166-6-38DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3853444PMC
September 2013

Comprehensive analysis of the transcriptional landscape of the human FMR1 gene reveals two new long noncoding RNAs differentially expressed in Fragile X syndrome and Fragile X-associated tremor/ataxia syndrome.

Hum Genet 2014 Jan 5;133(1):59-67. Epub 2013 Sep 5.

Department of Psychiatry and Behavioral Sciences and Center for Therapeutic Innovation, Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, FL, 33136, USA,

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http://dx.doi.org/10.1007/s00439-013-1356-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3898532PMC
January 2014

Patient management problem-preferred responses.

Continuum (Minneap Minn) 2011 Apr;17(2 Neurogenetics):407-16

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http://dx.doi.org/10.1212/01.CON.0000396978.33380.6fDOI Listing
April 2011

Patient management problem.

Continuum (Minneap Minn) 2011 Apr;17(2 Neurogenetics):402-6

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http://dx.doi.org/10.1212/01.CON.0000396976.25756.74DOI Listing
April 2011

Expanded newborn screening: an update for pediatricians.

Pediatr Ann 2009 Aug;38(8):431-8

Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miller School of Medicine, Miami, FL 33136, USA.

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http://www.healio.com/doiresolver?doi=10.3928/00904481-20090
Publisher Site
http://dx.doi.org/10.3928/00904481-20090723-06DOI Listing
August 2009

Macrocephaly-capillary malformation: a report of three cases and review of the literature.

Pediatr Dermatol 2009 May-Jun;26(3):342-6

Department of Dermatology and Cutaneous Surgery, University of Miami, Miami, FL 33125, USA.

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http://dx.doi.org/10.1111/j.1525-1470.2009.00924.xDOI Listing
December 2009

Expanded newborn screening in Puerto Rico and the US Virgin Islands: education and barriers assessment.

Genet Med 2009 Mar;11(3):169-75

Cardiovascular Division, Miller School of Medicine, University of Miami, 1120 NW 14th Street, Miami, FL 33136, USA.

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http://www.nature.com/doifinder/10.1097/GIM.0b013e318193076f
Publisher Site
http://dx.doi.org/10.1097/GIM.0b013e318193076fDOI Listing
March 2009

Screening newborns for galactosemia using total body galactose oxidation to CO2 in expired air.

Pediatr Res 2007 Dec;62(6):720-4

Department of Pediatrics, University of Miami, Miami, Florida 33136, USA.

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http://dx.doi.org/10.1203/PDR.0b013e3181598cdfDOI Listing
December 2007

Detection of pathogenic gene copy number variations in patients with mental retardation by genomewide oligonucleotide array comparative genomic hybridization.

Hum Mutat 2007 Nov;28(11):1124-32

The Dr. John T. Macdonald Foundation Center for Medical Genetics, University of Miami Miller School of Medicine, Miami, Florida, USA.

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http://dx.doi.org/10.1002/humu.20581DOI Listing
November 2007

Prevention of a molecular misdiagnosis in galactosemia.

Genet Med 2006 Mar;8(3):178-82

Dr. John T. Macdonald Foundation Center for Medical Genetics, Department of Pediatrics and Biochemistry, Miller School of Medicine, University of Miami, FL 33136, USA.

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http://dx.doi.org/10.1097/01.gim.0000204019.54509.40DOI Listing
March 2006

Screening, evaluation, and management of a child with developmental delay.

Pediatr Case Rev 2002 Jan;2(1):33-45

Jackson Memorial Hospital, and Department of Pediatrics, University of Miami, Miami, FL.

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http://dx.doi.org/10.1097/00132584-200201000-00005DOI Listing
January 2002