Diana Mandelker

Diana Mandelker

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Diana Mandelker

Diana Mandelker

Publications by authors named "Diana Mandelker"

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Toward automation of germline variant curation in clinical cancer genetics.

Genet Med 2019 Sep 21;21(9):2116-2125. Epub 2019 Feb 21.

Niehaus Center For Inherited Cancer Genomics, Memorial Sloan Kettering Cancer Center, New York, NY, USA.

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http://dx.doi.org/10.1038/s41436-019-0463-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6703969PMC
September 2019

Correction: Toward automation of germline variant curation in clinical cancer genetics.

Genet Med 2019 Jul;21(7):1668

Niehaus Center For Inherited Cancer Genomics, Memorial Sloan Kettering Cancer Center, New York, NY, USA.

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http://dx.doi.org/10.1038/s41436-019-0490-5DOI Listing
July 2019

Somatic HNF1A mutations in the malignant transformation of hepatocellular adenomas: a retrospective analysis of data from MSK-IMPACT and TCGA.

Hum Pathol 2019 Jan 17;83:1-6. Epub 2018 Aug 17.

Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY 10065, USA; Department of Pathology, Weill Cornell Medical College, New York, NY 10065, USA. Electronic address:

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http://dx.doi.org/10.1016/j.humpath.2018.08.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6365190PMC
January 2019

A synonymous germline variant PALB2 c.18G>T (p.Gly6=) disrupts normal splicing in a family with pancreatic and breast cancers.

Breast Cancer Res Treat 2019 Jan 25;173(1):79-86. Epub 2018 Sep 25.

Departments of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY, 10065, USA.

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http://dx.doi.org/10.1007/s10549-018-4980-yDOI Listing
January 2019

Analysis of intragenic USH2A copy number variation unveils broad spectrum of unique and recurrent variants.

Eur J Med Genet 2018 Oct 12;61(10):621-626. Epub 2018 Apr 12.

Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, MA 02129, USA; Department of Pathology, Brigham & Women's Hospital and Harvard Medical School, Boston, MA 02115, USA.

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http://dx.doi.org/10.1016/j.ejmg.2018.04.006DOI Listing
October 2018

Tumor Syndromes Predisposing to Osteosarcoma.

Adv Anat Pathol 2018 Jul;25(4):217-222

Department of Pathology, Memorial Sloan Kettering Cancer Center, NewYork, NY.

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http://dx.doi.org/10.1097/PAP.0000000000000190DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6688172PMC
July 2018

The emerging significance of secondary germline testing in cancer genomics.

J Pathol 2018 04 16;244(5):610-615. Epub 2018 Feb 16.

Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY, USA.

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http://dx.doi.org/10.1002/path.5031DOI Listing
April 2018

Erratum: Mutational landscape of metastatic cancer revealed from prospective clinical sequencing of 10,000 patients.

Authors:
Ahmet Zehir Ryma Benayed Ronak H Shah Aijazuddin Syed Sumit Middha Hyunjae R Kim Preethi Srinivasan Jianjiong Gao Debyani Chakravarty Sean M Devlin Matthew D Hellmann David A Barron Alison M Schram Meera Hameed Snjezana Dogan Dara S Ross Jaclyn F Hechtman Deborah F DeLair JinJuan Yao Diana L Mandelker Donavan T Cheng Raghu Chandramohan Abhinita S Mohanty Ryan N Ptashkin Gowtham Jayakumaran Meera Prasad Mustafa H Syed Anoop Balakrishnan Rema Zhen Y Liu Khedoudja Nafa Laetitia Borsu Justyna Sadowska Jacklyn Casanova Ruben Bacares Iwona J Kiecka Anna Razumova Julie B Son Lisa Stewart Tessara Baldi Kerry A Mullaney Hikmat Al-Ahmadie Efsevia Vakiani Adam A Abeshouse Alexander V Penson Philip Jonsson Niedzica Camacho Matthew T Chang Helen H Won Benjamin E Gross Ritika Kundra Zachary J Heins Hsiao-Wei Chen Sarah Phillips Hongxin Zhang Jiaojiao Wang Angelica Ochoa Jonathan Wills Michael Eubank Stacy B Thomas Stuart M Gardos Dalicia N Reales Jesse Galle Robert Durany Roy Cambria Wassim Abida Andrea Cercek Darren R Feldman Mrinal M Gounder A Ari Hakimi James J Harding Gopa Iyer Yelena Y Janjigian Emmet J Jordan Ciara M Kelly Maeve A Lowery Luc G T Morris Antonio M Omuro Nitya Raj Pedram Razavi Alexander N Shoushtari Neerav Shukla Tara E Soumerai Anna M Varghese Rona Yaeger Jonathan Coleman Bernard Bochner Gregory J Riely Leonard B Saltz Howard I Scher Paul J Sabbatini Mark E Robson David S Klimstra Barry S Taylor Jose Baselga Nikolaus Schultz David M Hyman Maria E Arcila David B Solit Marc Ladanyi Michael F Berger

Nat Med 2017 08;23(8):1004

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http://dx.doi.org/10.1038/nm0817-1004cDOI Listing
August 2017

Mutational landscape of metastatic cancer revealed from prospective clinical sequencing of 10,000 patients.

Authors:
Ahmet Zehir Ryma Benayed Ronak H Shah Aijazuddin Syed Sumit Middha Hyunjae R Kim Preethi Srinivasan Jianjiong Gao Debyani Chakravarty Sean M Devlin Matthew D Hellmann David A Barron Alison M Schram Meera Hameed Snjezana Dogan Dara S Ross Jaclyn F Hechtman Deborah F DeLair JinJuan Yao Diana L Mandelker Donavan T Cheng Raghu Chandramohan Abhinita S Mohanty Ryan N Ptashkin Gowtham Jayakumaran Meera Prasad Mustafa H Syed Anoop Balakrishnan Rema Zhen Y Liu Khedoudja Nafa Laetitia Borsu Justyna Sadowska Jacklyn Casanova Ruben Bacares Iwona J Kiecka Anna Razumova Julie B Son Lisa Stewart Tessara Baldi Kerry A Mullaney Hikmat Al-Ahmadie Efsevia Vakiani Adam A Abeshouse Alexander V Penson Philip Jonsson Niedzica Camacho Matthew T Chang Helen H Won Benjamin E Gross Ritika Kundra Zachary J Heins Hsiao-Wei Chen Sarah Phillips Hongxin Zhang Jiaojiao Wang Angelica Ochoa Jonathan Wills Michael Eubank Stacy B Thomas Stuart M Gardos Dalicia N Reales Jesse Galle Robert Durany Roy Cambria Wassim Abida Andrea Cercek Darren R Feldman Mrinal M Gounder A Ari Hakimi James J Harding Gopa Iyer Yelena Y Janjigian Emmet J Jordan Ciara M Kelly Maeve A Lowery Luc G T Morris Antonio M Omuro Nitya Raj Pedram Razavi Alexander N Shoushtari Neerav Shukla Tara E Soumerai Anna M Varghese Rona Yaeger Jonathan Coleman Bernard Bochner Gregory J Riely Leonard B Saltz Howard I Scher Paul J Sabbatini Mark E Robson David S Klimstra Barry S Taylor Jose Baselga Nikolaus Schultz David M Hyman Maria E Arcila David B Solit Marc Ladanyi Michael F Berger

Nat Med 2017 Jun 8;23(6):703-713. Epub 2017 May 8.

Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, New York, USA.

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http://www.nature.com/doifinder/10.1038/nm.4333
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http://dx.doi.org/10.1038/nm.4333DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5461196PMC
June 2017

Navigating highly homologous genes in a molecular diagnostic setting: a resource for clinical next-generation sequencing.

Genet Med 2016 12 26;18(12):1282-1289. Epub 2016 May 26.

Partners HealthCare Personalized Medicine, Laboratory for Molecular Medicine, Cambridge, Massachusetts, USA.

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http://dx.doi.org/10.1038/gim.2016.58DOI Listing
December 2016

Toward Concurrent Testing for Somatic and Germline Variants in Cancer Patients.

Authors:
Diana Mandelker

Clin Cancer Res 2016 Aug 15;22(16):3987-8. Epub 2016 Jun 15.

Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, New York.

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http://dx.doi.org/10.1158/1078-0432.CCR-16-1043DOI Listing
August 2016

Refractory myeloid sarcoma with a FIP1L1-PDGFRA rearrangement detected by clinical high throughput somatic sequencing.

Exp Hematol Oncol 2015 8;4:30. Epub 2015 Oct 8.

Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, 75 Francis St., Boston, MA 02115 USA.

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http://dx.doi.org/10.1186/s40164-015-0026-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4599757PMC
October 2015

Novel liver findings in ornithine transcarbamylase deficiency due to Xp11.4-p21.1 microdeletion.

Gene 2015 Feb 27;556(2):249-53. Epub 2014 Nov 27.

Department of Pathology and Laboratory Medicine, David Geffen School of Medicine at UCLA, UCLA Clinical Genomics Center, Los Angeles, California. Electronic address:

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http://dx.doi.org/10.1016/j.gene.2014.11.057DOI Listing
February 2015

Antigen expression patterns of MYC-rearranged versus non-MYC-rearranged B-cell lymphomas by flow cytometry.

Leuk Lymphoma 2014 Nov 3;55(11):2592-6. Epub 2014 Mar 3.

Department of Pathology, Brigham and Women's Hospital , Boston, MA , USA.

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http://dx.doi.org/10.3109/10428194.2013.879714DOI Listing
November 2014

Comprehensive diagnostic testing for stereocilin: an approach for analyzing medically important genes with high homology.

J Mol Diagn 2014 Nov 23;16(6):639-47. Epub 2014 Aug 23.

Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, Massachusetts; Department of Pathology, Harvard Medical School, Massachusetts General Hospital, Boston, Massachusetts. Electronic address:

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http://dx.doi.org/10.1016/j.jmoldx.2014.06.003DOI Listing
November 2014

Structural effects of oncogenic PI3Kα mutations.

Curr Top Microbiol Immunol 2010 ;347:43-53

Department of Biophysics and Biophysical Chemistry, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.

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http://dx.doi.org/10.1007/82_2010_53DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3172713PMC
January 2011

Somatic mutations in PI3Kalpha: structural basis for enzyme activation and drug design.

Biochim Biophys Acta 2010 Mar 2;1804(3):533-40. Epub 2009 Dec 2.

Department of Biophysics and Biophysical Chemistry, The Johns Hopkins University, Baltimore, MD 21205, USA.

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http://dx.doi.org/10.1016/j.bbapap.2009.11.020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2821964PMC
March 2010

A frequent kinase domain mutation that changes the interaction between PI3Kalpha and the membrane.

Proc Natl Acad Sci U S A 2009 Oct 23;106(40):16996-7001. Epub 2009 Sep 23.

The Ludwig Center for Cancer Genetics and Therapeutics and Howard Hughes Medical Institute, Johns Hopkins Kimmel Cancer Center, Baltimore, MD 21231, USA.

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http://dx.doi.org/10.1073/pnas.0908444106DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2761334PMC
October 2009

Structural comparisons of class I phosphoinositide 3-kinases.

Nat Rev Cancer 2008 09;8(9):665-9

Department of Biophysics and Biophysical Chemistry, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA.

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http://dx.doi.org/10.1038/nrc2443DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2847604PMC
September 2008

Insights into the oncogenic effects of PIK3CA mutations from the structure of p110alpha/p85alpha.

Cell Cycle 2008 May 27;7(9):1151-6. Epub 2008 Feb 27.

Department of Biophysics and Biophysical Chemistry, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3260475PMC
http://dx.doi.org/10.4161/cc.7.9.5817DOI Listing
May 2008

The structure of a human p110alpha/p85alpha complex elucidates the effects of oncogenic PI3Kalpha mutations.

Science 2007 Dec;318(5857):1744-8

Department of Biophysics and Biophysical Chemistry, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.

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http://dx.doi.org/10.1126/science.1150799DOI Listing
December 2007