Publications by authors named "Joseph T Alaimo"

20Publications

Integrated analysis of metabolomic profiling and exome data supplements sequence variant interpretation, classification, and diagnosis.

Genet Med 2020 Sep 22;22(9):1560-1566. Epub 2020 May 22.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41436-020-0827-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7483344PMC
September 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:

View Article

Download full-text PDF

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

Genotype and phenotype correlation in 103 individuals with 2q37 deletion syndrome reveals incomplete penetrance and supports HDAC4 as the primary genetic contributor.

Am J Med Genet A 2019 05 7;179(5):782-791. Epub 2019 Mar 7.

Department of Pediatrics, Virginia Commonwealth University School of Medicine, Richmond, Virginia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.61089DOI Listing
May 2019

Exome and genome sequencing in reproductive medicine.

Fertil Steril 2018 02 1;109(2):213-220. Epub 2018 Feb 1.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas; Department of Obstetrics and Gynecology, Baylor College of Medicine, Houston, Texas. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.fertnstert.2017.12.010DOI Listing
February 2018

Overexpression Promotes Altered Circadian Gene Expression and Dyssomnia in Potocki-Lupski Syndrome.

J Pediatr Genet 2017 Sep 7;6(3):155-164. Epub 2017 Mar 7.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1055/s-0037-1599147DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5548529PMC
September 2017

Smith-Magenis Syndrome Patients Often Display Antibody Deficiency but Not Other Immune Pathologies.

J Allergy Clin Immunol Pract 2017 Sep - Oct;5(5):1344-1350.e3. Epub 2017 Mar 9.

Division of Allergy Immunology, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Penn. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jaip.2017.01.028DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5591748PMC
May 2018

Copy number loss upstream of RAI1 uncovers gene expression regulatory region that may impact Potocki-Lupski syndrome diagnosis.

Mol Cytogenet 2015 5;8:75. Epub 2015 Oct 5.

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, NAB2015, Houston, TX 77030 USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s13039-015-0179-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4594966PMC
October 2015

Smith-Magenis syndrome and its circadian influence on development, behavior, and obesity - own experience.

Dev Period Med 2015 Apr-Jun;19(2):149-56

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

View Article

Download full-text PDF

Source
November 2015

Individuals with Smith-Magenis syndrome display profound neurodevelopmental behavioral deficiencies and exhibit food-related behaviors equivalent to Prader-Willi syndrome.

Res Dev Disabil 2015 Dec 28;47:27-38. Epub 2015 Aug 28.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Human and Molecular Genetics, Virginia Commonwealth University, Richmond, VA 23298, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ridd.2015.08.011DOI Listing
December 2015

Phenotypic and molecular convergence of 2q23.1 deletion syndrome with other neurodevelopmental syndromes associated with autism spectrum disorder.

Int J Mol Sci 2015 Apr 7;16(4):7627-43. Epub 2015 Apr 7.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3390/ijms16047627DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4425039PMC
April 2015

Dietary regimens modify early onset of obesity in mice haploinsufficient for Rai1.

PLoS One 2014 15;9(8):e105077. Epub 2014 Aug 15.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America; Department of Human and Molecular Genetics, Virginia Commonwealth University, Richmond, Virginia, United States of America.

View Article

Download full-text PDF

Source
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0105077PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4134272PMC
December 2015

SLO-2 isoforms with unique Ca(2+) - and voltage-dependence characteristics confer sensitivity to hypoxia in C. elegans.

Channels (Austin) 2013 May-Jun;7(3):194-205. Epub 2013 Apr 16.

Department of Physiology and Biophysics, Virginia Commonwealth University, Medical College of Virginia Campus, Richmond, VA, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.4161/chan.24492DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3710346PMC
October 2014

Ethanol metabolism and osmolarity modify behavioral responses to ethanol in C. elegans.

Alcohol Clin Exp Res 2012 Nov 6;36(11):1840-50. Epub 2012 Apr 6.

Department of Pharmacology and Toxicology, Virginia Commonwealth University, Richmond, VA 23298, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/j.1530-0277.2012.01799.xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3396773PMC
November 2012