Joseph Thakuria

Joseph Thakuria

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Joseph Thakuria

Joseph Thakuria

Publications by authors named "Joseph Thakuria"

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The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.

Authors:
Claire Redin Harrison Brand Ryan L Collins Tammy Kammin Elyse Mitchell Jennelle C Hodge Carrie Hanscom Vamsee Pillalamarri Catarina M Seabra Mary-Alice Abbott Omar A Abdul-Rahman Erika Aberg Rhett Adley Sofia L Alcaraz-Estrada Fowzan S Alkuraya Yu An Mary-Anne Anderson Caroline Antolik Kwame Anyane-Yeboa Joan F Atkin Tina Bartell Jonathan A Bernstein Elizabeth Beyer Ian Blumenthal Ernie M H F Bongers Eva H Brilstra Chester W Brown Hennie T Brüggenwirth Bert Callewaert Colby Chiang Ken Corning Helen Cox Edwin Cuppen Benjamin B Currall Tom Cushing Dezso David Matthew A Deardorff Annelies Dheedene Marc D'Hooghe Bert B A de Vries Dawn L Earl Heather L Ferguson Heather Fisher David R FitzPatrick Pamela Gerrol Daniela Giachino Joseph T Glessner Troy Gliem Margo Grady Brett H Graham Cristin Griffis Karen W Gripp Andrea L Gropman Andrea Hanson-Kahn David J Harris Mark A Hayden Rosamund Hill Ron Hochstenbach Jodi D Hoffman Robert J Hopkin Monika W Hubshman A Micheil Innes Mira Irons Melita Irving Jessie C Jacobsen Sandra Janssens Tamison Jewett John P Johnson Marjolijn C Jongmans Stephen G Kahler David A Koolen Jerome Korzelius Peter M Kroisel Yves Lacassie William Lawless Emmanuelle Lemyre Kathleen Leppig Alex V Levin Haibo Li Hong Li Eric C Liao Cynthia Lim Edward J Lose Diane Lucente Michael J Macera Poornima Manavalan Giorgia Mandrile Carlo L Marcelis Lauren Margolin Tamara Mason Diane Masser-Frye Michael W McClellan Cinthya J Zepeda Mendoza Björn Menten Sjors Middelkamp Liya R Mikami Emily Moe Shehla Mohammed Tarja Mononen Megan E Mortenson Graciela Moya Aggie W Nieuwint Zehra Ordulu Sandhya Parkash Susan P Pauker Shahrin Pereira Danielle Perrin Katy Phelan Raul E Piña Aguilar Pino J Poddighe Giulia Pregno Salmo Raskin Linda Reis William Rhead Debra Rita Ivo Renkens Filip Roelens Jayla Ruliera Patrick Rump Samantha L P Schilit Ranad Shaheen Rebecca Sparkes Erica Spiegel Blair Stevens Matthew R Stone Julia Tagoe Joseph V Thakuria Bregje W van Bon Jiddeke van de Kamp Ineke van Der Burgt Ton van Essen Conny M van Ravenswaaij-Arts Markus J van Roosmalen Sarah Vergult Catharina M L Volker-Touw Dorothy P Warburton Matthew J Waterman Susan Wiley Anna Wilson Maria de la Concepcion A Yerena-de Vega Roberto T Zori Brynn Levy Han G Brunner Nicole de Leeuw Wigard P Kloosterman Erik C Thorland Cynthia C Morton James F Gusella Michael E Talkowski

Nat Genet 2017 01 14;49(1):36-45. Epub 2016 Nov 14.

Molecular Neurogenetics Unit, Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1038/ng.3720DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5307971PMC
January 2017

What's New in Genetic Testing for Cancer Susceptibility?

Oncology (Williston Park) 2016 09;30(9):787-99

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September 2016

Direct tissue evaluation via immunofluorescence: in the diagnosis of hereditary transthyretin cardiac amyloidosis.

Tex Heart Inst J 2012 ;39(1):71-5

Department of Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts 02114, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3298917PMC
November 2012

Back to the future: from genome to metabolome.

Hum Mutat 2012 May;33(5):809-12

Department of Genetics, Harvard Medical School, Boston, MA 02114, USA.

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http://doi.wiley.com/10.1002/humu.22073
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http://dx.doi.org/10.1002/humu.22073DOI Listing
May 2012

Personal genomes in progress: from the human genome project to the personal genome project.

Dialogues Clin Neurosci 2010 ;12(1):47-60

European Centre for Public Health Genomics, FHML, Maastricht University, Maastricht, The Netherlands.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3181947PMC
April 2010

Novel CHD7 and FBN1 mutations in an infant with multiple congenital anamolies.

Indian J Pediatr 2010 Feb 11;77(2):208-9. Epub 2009 Dec 11.

Division of Newborn Medicine, Department of Medicine, Children's, Hospital, Boston, MA, USA.

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http://medind.nic.in/icb/t10/i2/icbt10i2p208.pdf
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http://link.springer.com/10.1007/s12098-009-0232-9
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http://dx.doi.org/10.1007/s12098-009-0232-9DOI Listing
February 2010

Subglossopalatal synechia in association with cardiac and digital anomalies.

Cleft Palate Craniofac J 2008 Mar;45(2):217-21

Craniofacial Centre, Division of Plastic Surgery, Children's Hospital, Harvard Medical School.

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http://dx.doi.org/10.1597/06-181.1DOI Listing
March 2008