Arti Pandya

Arti Pandya

UNVERIFIED PROFILE

Are you Arti Pandya?   Register this Author

Register author
Arti Pandya

Arti Pandya

Publications by authors named "Arti Pandya"

Are you Arti Pandya?   Register this Author

42Publications

868Reads

25Profile Views

Analyses of del(GJB6-D13S1830) and del(GJB6-D13S1834) deletions in a large cohort with hearing loss: Caveats to interpretation of molecular test results in multiplex families.

Mol Genet Genomic Med 2020 Feb 17:e1171. Epub 2020 Feb 17.

Department of Science, Technology, & Mathematics, Gallaudet University, Washington, DC, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mgg3.1171DOI Listing
February 2020

Cancer Risk in Klippel-Trenaunay Syndrome.

Lymphat Res Biol 2019 Dec 2;17(6):630-636. Epub 2019 May 2.

Special Interest Group, The American Society of Pediatric Hematology Oncology, Chicago, Illinois.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1089/lrb.2018.0049DOI Listing
December 2019

Expanding the phenotype for the recurrent p.Ala391Glu variant in FGFR3: Beyond crouzon syndrome and acanthosis nigricans.

Mol Genet Genomic Med 2019 Jun 23;7(6):e656. Epub 2019 Apr 23.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mgg3.656DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6565579PMC
June 2019

Analysis of risk factors associated with unilateral hearing loss in children who initially passed newborn hearing screening.

Int J Pediatr Otorhinolaryngol 2018 Mar 2;106:100-104. Epub 2018 Feb 2.

Department of Otolaryngology-HNS, Virginia Commonwealth University, 401 North 11th Street, PO Box 980146, Richmond, VA, 23298, United States.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ijporl.2018.01.024DOI Listing
March 2018

Co-occurring Down syndrome and SUCLA2-related mitochondrial depletion syndrome.

Am J Med Genet A 2017 Oct 27;173(10):2720-2724. Epub 2017 Jul 27.

Department of Pediatrics, Division of Genetics and Metabolism, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.38351DOI Listing
October 2017

Genetic hearing loss: the journey of discovery to destination - how close are we to therapy?

Authors:
Arti Pandya

Mol Genet Genomic Med 2016 Nov 21;4(6):583-587. Epub 2016 Nov 21.

Division of Genetics and Metabolism Department of Pediatrics University of North Carolina Chapel Hill North Carolina.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mgg3.260DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5118202PMC
November 2016

The clinical and audiologic features of hearing loss due to mitochondrial mutations.

Otolaryngol Head Neck Surg 2013 Jun 22;148(6):1017-22. Epub 2013 Mar 22.

Virginia Commonwealth University Health Systems, Department of Otolaryngology-Head and Neck Surgery, 1200 East Broad St, West Hospital, Richmond, Virginia 23298-0146, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1177/0194599813482705DOI Listing
June 2013

Etiology of unilateral hearing loss in a national hereditary deafness repository.

Am J Otolaryngol 2012 Sep-Oct;33(5):590-4. Epub 2012 Apr 24.

Department of Otolaryngology, Virginia Commonwealth University, Richmond, VA 23298, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.amjoto.2012.03.005DOI Listing
January 2013

Risk factors associated with unilateral hearing loss.

JAMA Otolaryngol Head Neck Surg 2013 Jan;139(1):59-63

Departments of Otolaryngology–Head and Neck Surgery, Virginia Commonwealth University Medical Center, Richmond, VA 23298, USA.

View Article

Download full-text PDF

Source
http://archotol.jamanetwork.com/article.aspx?doi=10.1001/jam
Publisher Site
http://dx.doi.org/10.1001/jamaoto.2013.1097DOI Listing
January 2013

GPSM2 mutations in Chudley-McCullough syndrome.

Am J Med Genet A 2012 Nov 14;158A(11):2972-3. Epub 2012 Sep 14.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.35636DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3657751PMC
November 2012

Performance evaluation of two methods using commercially available reagents for PCR-based detection of FMR1 mutation.

J Mol Diagn 2012 Sep 2;14(5):476-86. Epub 2012 Jul 2.

Division of Molecular Diagnostics, Department of Pathology, Molecular Diagnostics Laboratory, Virginia Commonwealth University, Richmond, Virginia 23298-0248, USA.

View Article

Download full-text PDF

Source
http://linkinghub.elsevier.com/retrieve/pii/S152515781200126
Publisher Site
http://dx.doi.org/10.1016/j.jmoldx.2012.03.005DOI Listing
September 2012

Intraventricular twin fetuses in fetu.

J Neurosurg Pediatr 2012 Jan;9(1):17-23

Department of Pathology, Virginia Commonwealth University Health System, Richmond, Virginia 23298-0662, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3171/2011.10.PEDS11196DOI Listing
January 2012

Presence of SPINK-1 variant alters the course of chronic pancreatitis.

J Gastroenterol Hepatol 2011 Jun;26(6):965-9

Department of Gastroenterology, Virginia Commonwealth University Medical Center, Richmond, Virginia 23233, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/j.1440-1746.2011.06713.xDOI Listing
June 2011

Vestibular dysfunction in DFNB1 deafness.

Am J Med Genet A 2011 May 4;155A(5):993-1000. Epub 2011 Apr 4.

Department of Otolaryngology, Virginia Commonwealth University, Richmond, USA.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ajmg.a.33828
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.33828DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3080433PMC
May 2011

GJB2 mutations in Mongolia: complex alleles, low frequency, and reduced fitness of the deaf.

Ann Hum Genet 2010 Mar 27;74(2):155-64. Epub 2010 Jan 27.

The Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Leonard M. Miller School of Medicine, Miami, Florida 33136, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/j.1469-1809.2010.00564.xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4739516PMC
March 2010

Provision of genetic services for hearing loss: results from a national survey and comparison to insights obtained from previous focus group discussions.

J Genet Couns 2009 Dec 2;18(6):618-21. Epub 2009 Oct 2.

Department of Human and Molecular Genetics, Virginia Commonwealth University, P.O. Box 980033, Richmond, VA 23298-0033, USA.

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/s10897-009-9246-8
Publisher Site
http://dx.doi.org/10.1007/s10897-009-9246-8DOI Listing
December 2009

Impact of genetic advances and testing for hearing loss: results from a national consumer survey.

Am J Med Genet A 2009 Jun;149A(6):1159-68

Department of Human and Molecular Genetics, Virginia Commonwealth University, Richmond, VA 23298-0033, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.32800DOI Listing
June 2009

Consumer motivations for pursuing genetic testing and their preferences for the provision of genetic services for hearing loss.

J Genet Couns 2008 Jun 5;17(3):252-60. Epub 2008 Feb 5.

Department of Human Genetics and Pediatrics, Medical College of Virginia at Virginia Commonwealth University, P.O. Box 980033, Richmond, VA 23298, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10897-007-9143-yDOI Listing
June 2008

A homozygous mutation in a novel zinc-finger protein, ERIS, is responsible for Wolfram syndrome 2.

Am J Hum Genet 2007 Oct 20;81(4):673-83. Epub 2007 Aug 20.

Department of Human Genetics, Virginia Commonwealth University, Richmond, VA, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1086/520961DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2227919PMC
October 2007

Compound heterozygosity for dominant and recessive GJB2 mutations: effect on phenotype and review of the literature.

Am J Med Genet A 2007 Jul;143A(14):1567-73

Department of Biology, Gallaudet University, Washington, District of Columbia 20002, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.31701DOI Listing
July 2007

A focus group study of consumer attitudes toward genetic testing and newborn screening for deafness.

Genet Med 2006 Dec;8(12):779-83

Genetics Program, Department of Biology, Gallaudet University, Washington, DC, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/01.gim.0000250501.59830.ffDOI Listing
December 2006

Education in the genetics of hearing loss: a survey of early hearing detection and intervention programs.

Genet Med 2006 Aug;8(8):510-7

Genetics Program, Department of Biology, Gallaudet University, Washington, DC, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/01.gim.0000232462.55966.92DOI Listing
August 2006

Audiological features of GJB2 (connexin 26) deafness.

Ear Hear 2005 Jun;26(3):361-9

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/00003446-200506000-00011DOI Listing
June 2005

Attitudes of deaf individuals towards genetic testing.

Am J Med Genet A 2004 Sep;130A(1):17-21

Department of Human Genetics, Medical College of Virginia, Virginia Commonwealth University, Richmond, Virginia, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.30051DOI Listing
September 2004

Evidence of a founder effect for the 235delC mutation of GJB2 (connexin 26) in east Asians.

Hum Genet 2003 Dec 18;114(1):44-50. Epub 2003 Sep 18.

Department of Otolaryngology, University of Miami, 1666 NW 12th Avenue, Miami, FL 33136, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00439-003-1018-1DOI Listing
December 2003

Chudley-McCullough syndrome: expanded phenotype and review of the literature.

Am J Med Genet A 2003 May;119A(1):71-6

Department of Biology, Gallaudet University, Washington DC, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.10180DOI Listing
May 2003

Mutations in the alternatively spliced exons of USH1C cause non-syndromic recessive deafness.

Hum Genet 2002 Jul 18;111(1):26-30. Epub 2002 Jun 18.

Department of Otolaryngology (D-48), University of Miami, 1666 NW 12th Avenue, FL 33136, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00439-002-0736-0DOI Listing
July 2002