Tanya M Bardakjian

Tanya M Bardakjian

UNVERIFIED PROFILE

Are you Tanya M Bardakjian?   Register this Author

Register author
Tanya M Bardakjian

Tanya M Bardakjian

Publications by authors named "Tanya M Bardakjian"

Are you Tanya M Bardakjian?   Register this Author

18Publications

310Reads

42Profile Views

Addressing the Value of Multidisciplinary Clinical Care in Huntington's Disease: A Snapshot of a New Huntington's Disease Center.

Authors:
Tanya M Bardakjian Jennifer Klapper Adrianna Carey Julia Wood Meredith Pauly Kelly Gasper Kathy Lawler Baochan Tran Yuliis Bell Alex Zwil Pedro Gonzalez-Alegre

J Huntingtons Dis 2019 Jul 27. Epub 2019 Jul 27.

Department of Neurology, Perelman School of Medicine, The University of Pennsylvania, Philadelphia, PA, USA.

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.3233/JHD-190355DOI Listing
July 2019

Peripheral synucleinopathy in a patient with Parkinson disease, cataracts, and hearing loss.

Authors:
Derek P Narendra Risa Isonaka Diana Nguyen Alice B Schindler Angela D Kokkinis Debra Ehrlich Tanya M Bardakjian David S Goldstein Tsao-Wei Liang Pedro Gonzalez-Alegre

Neurology 2019 Jun 26;92(23):1113-1115. Epub 2019 Apr 26.

From the National Institute of Neurological Disorders and Stroke (D.P.N., R.I., D.N., A.S., A.K., D.E., D.S.G.), NIH, Bethesda, MD; Department of Neurology (D.P.N., T.M.B., P.G.-A.), University of Pennsylvania; Department of Neurology (T.-W.L.), Thomas Jefferson University Hospital; ad The Children's Hospital of Philadelphia (P.G.-A.), PA.

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1212/WNL.0000000000007614DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6556091PMC
June 2019

Attitudes of Potential Participants Towards Molecular Therapy Trials in Huntington's Disease.

Authors:
Tanya M Bardakjian Kaylee Faulkner Naczi Pedro Gonzalez-Alegre

J Huntingtons Dis 2019 ;8(1):79-85

Department of Neurology, Hospital of the University of Pennsylvania, Philadelphia, PA, USA.

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.3233/JHD-180328DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6398921PMC
January 2019

Correction: Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice.

Authors:
Joe Rainger Ellen van Beusekom Jacqueline K Ramsay Lisa McKie Lihadh Al-Gazali Rosanna Pallotta Anita Saponari Peter Branney Malcolm Fisher Harris Morrison Louise Bicknell Philippe Gautier Paul Perry Kishan Sokhi David Sexton Tanya M Bardakjian Adele S Schneider Nursel Elcioglu Ferda Ozkinay Rainer Koenig Andre Mégarbané C Nur Semerci Ayesha Khan Saemah Zafar Raoul Hennekam Sérgio B Sousa Lina Ramos Livia Garavelli Andrea Superti Furga Anita Wischmeijer Ian J Jackson Gabriele Gillessen-Kaesbach Han G Brunner Dagmar Wieczorek Hans van Bokhoven David R FitzPatrick

PLoS Genet 2018 12 26;14(12):e1007866. Epub 2018 Dec 26.

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1371/journal.pgen.1007866DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6306194PMC
December 2018

Hereditary Myoclonus Dystonia: A Novel Variant and Phenotype Including Intellectual Disability.

Authors:
David G Coughlin Tanya M Bardakjian Meredith Spindler Andres Deik

Tremor Other Hyperkinet Mov (N Y) 2018 28;8:547. Epub 2018 Mar 28.

Department of Neurology, Pennsylvania Hospital, Philadelphia, PA, USA.

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.7916/D8J11FRZDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5876472PMC
November 2018

The ClinGen Epilepsy Gene Curation Expert Panel-Bridging the divide between clinical domain knowledge and formal gene curation criteria.

Authors:
Ingo Helbig Erin Rooney Riggs Carrie-Anne Barry Karl Martin Klein David Dyment Courtney Thaxton Bekim Sadikovic Tristan T Sands Jacy L Wagnon Khalida Liaquat Maria Roberta Cilio Ghayda Mirzaa Kristen Park Erika Axeen Elizabeth Butler Tanya M Bardakjian Pasquale Striano Annapurna Poduri Rebecca K Siegert Andrew R Grant Katherine L Helbig Heather C Mefford

Hum Mutat 2018 11;39(11):1476-1484

Division of Genetic Medicine, University of Washington, Seattle, Washington, USA.

View Article

Download full-text PDF

 Source
http://doi.wiley.com/10.1002/humu.23632
Publisher Site
http://dx.doi.org/10.1002/humu.23632DOI Listing
November 2018

Genetic test utilization and diagnostic yield in adult patients with neurological disorders.

Authors:
Tanya M Bardakjian Ingo Helbig Colin Quinn Lauren B Elman Leo F McCluskey Steven S Scherer Pedro Gonzalez-Alegre

Neurogenetics 2018 05 28;19(2):105-110. Epub 2018 Mar 28.

Department of Neurology, University of Pennsylvania, 330 South 9th Street, Second Floor, Philadelphia, PA, 19107, USA.

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1007/s10048-018-0544-xDOI Listing
May 2018

Clinical Reasoning: A 30-year-old man with progressive weakness and atrophy.

Authors:
Colin Quinn Steven A Moore Tanya M Bardakjian Chafic Karam

Neurology 2016 11;87(19):e227-e230

From the Department of Neurology (C.Q., T.M.B.), University of Pennsylvania, Perelman School of Medicine, Philadelphia, PA; Department of Pathology (S.A.M.), The University of Iowa, Carver College of Medicine, Iowa City, IA; and Department of Neurology (C.K.), Oregon Health and Science University, Portland, OR.

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1212/WNL.0000000000003320DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5109952PMC
November 2016

Systemic diagnostic testing in patients with apparently isolated uveal coloboma.

Authors:
Nancy Huynh Delphine Blain Tanya Glaser E Lauren Doss Wadih M Zein David M Lang Eva H Baker Suvimol Hill Carmen C Brewer Jeffrey B Kopp Tanya M Bardakjian Irene H Maumenee Bronwyn J Bateman Brian P Brooks

Am J Ophthalmol 2013 Dec 5;156(6):1159-1168.e4. Epub 2013 Sep 5.

Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland.

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1016/j.ajo.2013.06.037DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4167417PMC
December 2013

BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome.

Authors:
Linda M Reis Rebecca C Tyler Kala F Schilter Omar Abdul-Rahman Jeffrey W Innis Beth A Kozel Adele S Schneider Tanya M Bardakjian Edward J Lose Donna M Martin Ulrich Broeckel Elena V Semina

Hum Genet 2011 Oct 22;130(4):495-504. Epub 2011 Feb 22.

Department of Pediatrics, Medical College of Wisconsin, Milwaukee, WI, USA.

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1007/s00439-011-0968-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3178759PMC
October 2011

The genetics of anophthalmia and microphthalmia.

Authors:
Tanya M Bardakjian Adele Schneider

Curr Opin Ophthalmol 2011 Sep;22(5):309-13

Albert Einstein Medical Center, Division of Genetics, Philadelphia, Pennsylvania 19141, USA.

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1097/ICU.0b013e328349b004DOI Listing
September 2011

Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and mice.

Authors:
Joe Rainger Ellen van Beusekom Jacqueline K Ramsay Lisa McKie Lihadh Al-Gazali Rosanna Pallotta Anita Saponari Peter Branney Malcolm Fisher Harris Morrison Louise Bicknell Philippe Gautier Paul Perry Kishan Sokhi David Sexton Tanya M Bardakjian Adele S Schneider Nursel Elcioglu Ferda Ozkinay Rainer Koenig Andre Mégarbané C Nur Semerci Ayesha Khan Saemah Zafar Raoul Hennekam Sérgio B Sousa Lina Ramos Livia Garavelli Andrea Superti Furga Anita Wischmeijer Ian J Jackson Gabriele Gillessen-Kaesbach Han G Brunner Dagmar Wieczorek Hans van Bokhoven David R Fitzpatrick

PLoS Genet 2011 Jul 7;7(7):e1002114. Epub 2011 Jul 7.

Medical Research Council Human Genetics Unit, Institute of Genetics and Molecular Medicine, Western General Hospital, Edinburgh, UK.

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1371/journal.pgen.1002114DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3131273PMC
July 2011

Array comparative genomic hybridization analysis in patients with anophthalmia, microphthalmia, and coloboma.

Authors:
Gordana Raca Craig A Jackson Laimutis Kucinskas Berta Warman Joseph T C Shieh Adele Schneider Tanya M Bardakjian Lisa A Schimmenti

Genet Med 2011 May;13(5):437-42

UW Cytogenetic Services, Wisconsin State Laboratory of Hygiene, University of Wisconsin-Madison, Madison, Wisconsin 53706, USA.

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1097/GIM.0b013e318204cfd2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4237064PMC
May 2011

Clinical report of microphthalmia and optic nerve coloboma associated with a de novo microdeletion of chromosome 16p11.2.

Authors:
Tanya M Bardakjian Simon Kwok Anne M Slavotinek Adele S Schneider

Am J Med Genet A 2010 Dec;152A(12):3120-3

Division of Genetics, Department of Pediatrics, Albert Einstein Medical Center, Philadelphia, Pennsylvania 19141, USA.

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1002/ajmg.a.33492DOI Listing
December 2010

Association of a de novo 16q copy number variant with a phenotype that overlaps with Lenz microphthalmia and Townes-Brocks syndromes.

Authors:
Tanya M Bardakjian Adele S Schneider David Ng Jennifer J Johnston Leslie G Biesecker

BMC Med Genet 2009 Dec 16;10:137. Epub 2009 Dec 16.

Clinical Genetics, Department of Pediatrics, Albert Einstein Medical Center, Philadelphia, PA, USA.

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1186/1471-2350-10-137DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2806267PMC
December 2009

Familial recurrence of SOX2 anophthalmia syndrome: phenotypically normal mother with two affected daughters.

Authors:
Adele Schneider Tanya M Bardakjian Jie Zhou Nkecha Hughes Rosanne Keep Darnelle Dorsainville Femida Kherani James Katowitz Lisa A Schimmenti Marybeth Hummel David R Fitzpatrick Terri L Young

Am J Med Genet A 2008 Nov;146A(21):2794-8

Division of Genetics, Albert Einstein Medical Center, Philadelphia, Pennsylvania 19141, USA.

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1002/ajmg.a.32384DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3693575PMC
November 2008

Identification of novel mutations and sequence variants in the SOX2 and CHX10 genes in patients with anophthalmia/microphthalmia.

Authors:
Jie Zhou Femida Kherani Tanya M Bardakjian James Katowitz Nkecha Hughes Lisa A Schimmenti Adele Schneider Terri L Young

Mol Vis 2008 Mar 24;14:583-92. Epub 2008 Mar 24.

Division of Ophthalmology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.

View Article

Download full-text PDF

 Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2275209PMC
March 2008

Association of anophthalmia and esophageal atresia: four new cases identified by the anophthalmia/microphthalmia clinical registry.

Authors:
Tanya M Bardakjian Adele Schneider

Am J Med Genet A 2005 Jan;132A(1):54-6

Division of Genetics, Department of Pediatrics, Albert Einstein Medical Center, Philadelphia, Pennsylvania, USA.

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1002/ajmg.a.30442DOI Listing
January 2005