Works by Kassahn, Karin S.

Results: 27

Integrating Massively Parallel Sequencing into Diagnostic Workflows and Managing the Annotation and Clinical Interpretation Challenge.

Published in:

Human Mutation, 2014, v. 35, n. 4, p. 413, doi. 10.1002/humu.22525

By:

Kassahn, Karin S.;
Scott, Hamish S.;
Caramins, Melody C.

Publication type:

Article

A visual framework for sequence analysis using n-grams and spectral rearrangement.

Published in:

Bioinformatics, 2010, v. 26, n. 6, p. 737, doi. 10.1093/bioinformatics/btq042

By:

Maetschke, Stefan R.;
Kassahn, Karin S.;
Dunn, Jasmyn A.;
Siew-Ping Han;
Curley, Eva Z.;
Stacey, Katryn J.;
Ragan, Mark A.

Publication type:

Article

The Multi-Omic Approach to Newborn Screening: Opportunities and Challenges.

Published in:

International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 3, p. 42, doi. 10.3390/ijns10030042

By:

Ashenden, Alex J.;
Chowdhury, Ayesha;
Anastasi, Lucy T.;
Lam, Khoa;
Rozek, Tomas;
Ranieri, Enzo;
Siu, Carol Wai-Kwan;
King, Jovanka;
Mas, Emilie;
Kassahn, Karin S.

Publication type:

Article

Segmental Uniparental Isodisomy Causing an "Inside-to-Outside" Limb-Girdle Muscular Dystrophy Due to a Homozygous Mutation in POGLUT1.

Published in:

JAMA Neurology, 2023, v. 80, n. 8, p. 868, doi. 10.1001/jamaneurol.2023.1286

By:

Ghaoui, Roula;
Curtis, Samuel;
Kassahn, Karin S.

Publication type:

Article

Identification of human haploinsufficient genes and their genomic proximity to segmental duplications.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 11, p. 1350, doi. 10.1038/ejhg.2008.111

By:

Dang, Vinh T.;
Kassahn, Karin S.;
Marcos, Andrés Esteban;
Ragan, Mark A.

Publication type:

Article

Corrigendum: Whole-genome characterization of chemoresistant ovarian cancer.

Published in:

2015

By:

Patch, Ann-Marie;
Christie, Elizabeth L.;
Etemadmoghadam, Dariush;
Garsed, Dale W.;
George, Joshy;
Fereday, Sian;
Nones, Katia;
Cowin, Prue;
Alsop, Kathryn;
Bailey, Peter J.;
Kassahn, Karin S.;
Newell, Felicity;
Quinn, Michael C. J.;
Kazakoff, Stephen;
Quek, Kelly;
Wilhelm-Benartzi, Charlotte;
Curry, Ed;
Leong, Huei San;
Hamilton, Anne;
Mileshkin, Linda

Publication type:

Correction Notice

Whole-genome characterization of chemoresistant ovarian cancer.

Published in:

Nature, 2015, v. 521, n. 7553, p. 489, doi. 10.1038/nature14410

By:

Patch, Ann-Marie;
Christie, Elizabeth L.;
Etemadmoghadam, Dariush;
Garsed, Dale W.;
George, Joshy;
Fereday, Sian;
Nones, Katia;
Cowin, Prue;
Alsop, Kathryn;
Bailey, Peter J.;
Kassahn, Karin S.;
Newell, Felicity;
Quinn, Michael C. J.;
Kazakoff, Stephen;
Quek, Kelly;
Wilhelm-Benartzi, Charlotte;
Curry, Ed;
Leong, Huei San;
Hamilton, Anne;
Mileshkin, Linda

Publication type:

Article

Whole-genome characterization of chemoresistant ovarian cancer.

Published in:

Nature, 2015, v. 521, n. 7553, p. 489, doi. 10.1038/nature14410

By:

Patch, Ann-Marie;
Christie, Elizabeth L.;
Etemadmoghadam, Dariush;
Garsed, Dale W.;
George, Joshy;
Fereday, Sian;
Nones, Katia;
Cowin, Prue;
Alsop, Kathryn;
Bailey, Peter J.;
Kassahn, Karin S.;
Newell, Felicity;
Quinn, Michael C. J.;
Kazakoff, Stephen;
Quek, Kelly;
Wilhelm-Benartzi, Charlotte;
Curry, Ed;
Leong, Huei San;
Hamilton, Anne;
Mileshkin, Linda

Publication type:

Article

Somatic Point Mutation Calling in Low Cellularity Tumors.

Published in:

PLoS ONE, 2013, v. 8, n. 11, p. 1, doi. 10.1371/journal.pone.0074380

By:

Kassahn, Karin S.;
Holmes, Oliver;
Nones, Katia;
Patch, Ann-Marie;
Miller, David K.;
Christ, Angelika N.;
Harliwong, Ivon;
Bruxner, Timothy J.;
Xu, Qinying;
Anderson, Matthew;
Wood, Scott;
Leonard, Conrad;
Taylor, Darrin;
Newell, Felicity;
Song, Sarah;
Idrisoglu, Senel;
Nourse, Craig;
Nourbakhsh, Ehsan;
Manning, Suzanne;
Wani, Shivangi

Publication type:

Article

qpure: A Tool to Estimate Tumor Cellularity from Genome-Wide Single-Nucleotide Polymorphism Profiles.

Published in:

PLoS ONE, 2012, v. 7, n. 9, p. 1, doi. 10.1371/journal.pone.0045835

By:

Song, Sarah;
Nones, Katia;
Miller, David;
Harliwong, Ivon;
Kassahn, Karin S.;
Pinese, Mark;
Pajic, Marina;
Gill, Anthony J.;
Johns, Amber L.;
Anderson, Matthew;
Holmes, Oliver;
Leonard, Conrad;
Taylor, Darrin;
Wood, Scott;
Xu, Qinying;
Newell, Felicity;
Cowley, Mark J.;
Wu, Jianmin;
Wilson, Peter;
Fink, Lynn

Publication type:

Article

Presentation of m.3243A>G (MT-TL1; tRNALeu) variant with focal neurology in infancy.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2697, doi. 10.1002/ajmg.a.37161

By:

Mordaunt, Dylan A.;
McIntyre, Liam C.;
Salvemini, Hayley;
Ibrahim, Afdal;
Bratkovic, Drago;
Ketteridge, David;
Scott, Hamish S.;
Kassahn, Karin S.;
Smith, Nicholas

Publication type:

Article

Genome-wide DNA methylation patterns in pancreatic ductal adenocarcinoma reveal epigenetic deregulation of SLIT-ROBO, ITGA2 and MET signaling.

Published in:

International Journal of Cancer, 2014, v. 135, n. 5, p. 1110, doi. 10.1002/ijc.28765

By:

Nones, Katia;
Waddell, Nic;
Song, Sarah;
Patch, Ann‐Marie;
Miller, David;
Johns, Amber;
Wu, Jianmin;
Kassahn, Karin S.;
Wood, David;
Bailey, Peter;
Fink, Lynn;
Manning, Suzanne;
Christ, Angelika N.;
Nourse, Craig;
Kazakoff, Stephen;
Taylor, Darrin;
Leonard, Conrad;
Chang, David K.;
Jones, Marc D.;
Thomas, Michelle

Publication type:

Article

Identification and targeted management of a neurodegenerative disorder caused by biallelic mutations in SLC5A6.

Published in:

NPJ Genomic Medicine, 2019, v. 4, n. 1, p. N.PAG, doi. 10.1038/s41525-019-0103-x

By:

Byrne, Alicia B.;
Arts, Peer;
Polyak, Steven W.;
Feng, Jinghua;
Schreiber, Andreas W.;
Kassahn, Karin S.;
Hahn, Christopher N.;
Mordaunt, Dylan A.;
Fletcher, Janice M.;
Lipsett, Jillian;
Bratkovic, Drago;
Booker, Grant W.;
Smith, Nicholas J.;
Scott, Hamish S.

Publication type:

Article

Cerebellar output in zebrafish: an analysis of spatial patterns and topography in eurydendroid cell projections.

Published in:

Frontiers in Neural Circuits, 2013, p. 1, doi. 10.3389/fncir.2013.00053

By:

Heap, Lucy A.;
Chi Ching Goh;
Kassahn, Karin S.;
Scott, Ethan K.;
Jacobson, Gilad A.;
Yamamoto, Naoyuki

Publication type:

Article

Computational approaches to identify functional genetic variants in cancer genomes.

Published in:

Nature Methods, 2013, v. 10, n. 8, p. 723, doi. 10.1038/nmeth.2562

By:

Gonzalez-Perez, Abel;
Mustonen, Ville;
Reva, Boris;
Ritchie, Graham R S;
Creixell, Pau;
Karchin, Rachel;
Vazquez, Miguel;
Fink, J Lynn;
Kassahn, Karin S;
Pearson, John V;
Bader, Gary D;
Boutros, Paul C;
Muthuswamy, Lakshmi;
Ouellette, B F Francis;
Reimand, Jüri;
Linding, Rune;
Shibata, Tatsuhiro;
Valencia, Alfonso;
Butler, Adam;
Dronov, Serge

Publication type:

Article

MicroRNAs and their isomiRs function cooperatively to target common biological pathways.

Published in:

Genome Biology, 2011, v. 12, n. 12, p. 1, doi. 10.1186/gb-2011-12-12-r126

By:

Cloonan, Nicole;
Wani, Shivangi;
Qinying Xu;
Jian Gu;
Kristi Lea;
Heater, Sheila;
Barbacioru, Catalin;
Steptoe, Anita L.;
Martin, Hilary C.;
Nourbakhsh, Ehsan;
Krishnan, Keerthana;
Gardiner, Brooke;
Wang, Xiaohui;
Nones, Katia;
Steen, Jason A.;
Matigian, Nicholas A.;
Wood, David L.;
Kassahn, Karin S.;
Waddell, Nic;
Shepherd, Jill

Publication type:

Article

Lost in translation: returning germline genetic results in genome-scale cancer research.

Published in:

Genome Medicine, 2017, v. 9, p. 1, doi. 10.1186/s13073-017-0430-4

By:

Johns, Amber L.;
McKay, Skye H.;
Humphris, Jeremy L.;
Pinese, Mark;
Chantrill, Lorraine A.;
Mead, R. Scott;
Tucker, Katherine;
Andrews, Lesley;
Goodwin, Annabel;
Leonard, Conrad;
High, Hilda A.;
Nones, Katia;
Patch, Ann-Marie;
Merrett, Neil D.;
Pavlakis, Nick;
Kassahn, Karin S.;
Samra, Jaswinder S.;
Miller, David K.;
Chang, David K.;
Pajic, Marina

Publication type:

Article

Returning individual research results for genome sequences of pancreatic cancer.

Published in:

Genome Medicine, 2014, v. 6, n. 5, p. 22, doi. 10.1186/gm558

By:

Johns, Amber L.;
Miller, David K.;
Simpson, Skye H.;
Gill, Anthony J.;
Kassahn, Karin S.;
Humphris, Jeremy L.;
Samra, Jaswinder S.;
Tucker, Katherine;
Andrews, Lesley;
Chang, David K.;
Waddell, Nicola;
Pajic, Marina;
Pearson, John V.;
Grimmond, Sean M.;
Biankin, Andrew V.;
Zeps, Nikolajs

Publication type:

Article

Clinical and molecular characterization of HER2 amplified-pancreatic cancer.

Published in:

Genome Medicine, 2013, v. 5, n. 8, p. 1, doi. 10.1186/gm482

By:

Chou, Angela;
Waddell, Nicola;
Cowley, Mark J.;
Gill, Anthony J.;
Chang, David K.;
Patch, Ann-Marie;
Nones, Katia;
Wu, Jianmin;
Pinese, Mark;
Johns, Amber L.;
Miller, David K.;
Kassahn, Karin S.;
Nagrial, Adnan M.;
Wasan, Harpreet;
Goldstein, David;
Toon, Christopher W.;
Chin, Venessa;
Chantrill, Lorraine;
Humphris, Jeremy;
Scott Mead, R.

Publication type:

Article

Animal performance and stress: responses and tolerance limits at different levels of biological organisation.

Published in:

Biological Reviews, 2009, v. 84, n. 2, p. 277, doi. 10.1111/j.1469-185X.2008.00073.x

By:

Kassahn, Karin S.;
Crozier, Ross H.;
Pörtner, Hans O.;
Caley, M. Julian

Publication type:

Article

Case report of whole genome sequencing in the XY female: identification of a novel SRY mutation and revision of a misdiagnosis of androgen insensitivity syndrome.

Published in:

BMC Endocrine Disorders, 2016, v. 16, p. 1, doi. 10.1186/s12902-016-0141-7

By:

De Sousa, Sunita M. C.;
Kassahn, Karin S.;
McIntyre, Liam C.;
Chan-Eng Chong;
Scott, Hamish S.;
Torpy, David J.

Publication type:

Article

Whole genomes redefine the mutational landscape of pancreatic cancer.

Published in:

Nature, 2015, v. 518, n. 7540, p. 495, doi. 10.1038/nature14169

By:

Waddell, Nicola;
Pajic, Marina;
Patch, Ann-Marie;
Chang, David K.;
Kassahn, Karin S.;
Bailey, Peter;
Johns, Amber L.;
Miller, David;
Nones, Katia;
Quek, Kelly;
Quinn, Michael C. J.;
Robertson, Alan J.;
Fadlullah, Muhammad Z. H.;
Bruxner, Tim J. C.;
Christ, Angelika N.;
Harliwong, Ivon;
Idrisoglu, Senel;
Manning, Suzanne;
Nourse, Craig;
Nourbakhsh, Ehsan

Publication type:

Article

Pancreatic cancer genomes reveal aberrations in axon guidance pathway genes.

Published in:

Nature, 2012, v. 491, n. 7424, p. 399, doi. 10.1038/nature11547

By:

Biankin, Andrew V.;
Waddell, Nicola;
Kassahn, Karin S.;
Gingras, Marie-Claude;
Muthuswamy, Lakshmi B.;
Johns, Amber L.;
Miller, David K.;
Wilson, Peter J.;
Patch, Ann-Marie;
Wu, Jianmin;
Chang, David K.;
Cowley, Mark J.;
Gardiner, Brooke B.;
Song, Sarah;
Harliwong, Ivon;
Idrisoglu, Senel;
Nourse, Craig;
Nourbakhsh, Ehsan;
Manning, Suzanne;
Wani, Shivangi

Publication type:

Article

Heterologous microarray experiments used to identify the early gene response to heat stress in a coral reef fish.

Published in:

Molecular Ecology, 2007, v. 16, n. 8, p. 1749, doi. 10.1111/j.1365-294X.2006.03178.x

By:

Kassahn, Karin S.;
Saley, M. Julian;
Ward, Alister C.;
Connolly, Ashley R.;
Stone, Glenn;
Crozier, Ross H.

Publication type:

Article

PINA v2.0: mining interactome modules.

Published in:

Nucleic Acids Research, 2012, p. D862, doi. 10.1093/nar/gkr967

By:

Cowley, Mark J.;
Pinese, Mark;
Kassahn, Karin S.;
Waddell, Nic;
Pearson, John V.;
Grimmond, Sean M.;
Biankin, Andrew V.;
Hautaniemi, Sampsa;
Wu, Jianmin

Publication type:

Article

Sequencing transcriptomes in toto.

Published in:

Integrative Biology, 2011, v. 3, n. 5, p. 522, doi. 10.1039/c0ib00062k

By:

Kassahn, Karin S.;
Waddell, Nic;
Grimmond, Sean M.

Publication type:

Article

The mammalian PYHIN gene family: Phylogeny, evolution and expression.

Published in:

BMC Evolutionary Biology, 2012, v. 12, n. 1, p. 140, doi. 10.1186/1471-2148-12-140

By:

Cridland, Jasmyn A;
Curley, Eva Z;
Wykes, Michelle N;
Schroder, Kate;
Sweet, Matthew J;
Roberts, Tara L;
Ragan, Mark A;
Kassahn, Karin S;
Stacey, Katryn J

Publication type:

Article