Karin S. Kassahn

sapathology

H指数:52

被引数:2.8万

个人简介

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教育背景

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工作经历

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荣誉奖项

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The Australian PreGen Study: Results From Prospective Prenatal Exome Sequencing in 275 Pregnancies

澳大利亚PreGen研究：来自275例妊娠前瞻性产前外显子测序的结果

Prenatal Diagnosis

IF2.7

2026-09-290

PRE

Conor Rowntree; Gemma Fernihough; Sarah Long; Mohammad Al-Shinnag; Alyssa Wilson; Jayamala Parmar; Natalie Hart; Mandi MacShane; Kate Ross; Di Milnes; Benjamin Kamien; Jan E. Dickinson; Jon Hyett; John Smoleniec; Lesley McGregor; Rachael Stenhouse; Rebecca Vink; Sebastian Lunke; Meg Wall; Lucas de Jong; Abhijit Kulkarni; Rosalie Kenyon; Jinghua Feng; Matilda R. Jackson; Karin Kassahn; Hamish S. Scott; Edwin Kirk; Martin Smith; Futao Zhang; Josh Kraindler; Luke Rynehart; Rupendra Shrestha; Deborah Schofield; Ying Zhu; Michael F. Buckley; George McGillivray; Tony Roscioli; The PreGen Consortium

Automated reanalysis of genomic data for rare disease diagnostics at scale

大规模罕见疾病诊断的基因组数据自动化再分析

Nature Medicine

IF50

2026-06-240

OAAI

Matthew J. Welland; K. D. Ahlquist; Paul De Fazio; Christina Austin-Tse; Lynn Pais; Laura Wedd; Samantha Bryen; Rocio Rius; Michael Franklin; Caitlin Morrison; Giles Hall; Laura Gauthier; Alex Bloemendal; David I. Francis; Andrew J. Mallett; Amali Mallawaarachchi; Paul J. Lockhart; Richard Leventer; Ingrid E. Scheffer; Katherine B. Howell; Karin S. Kassahn; Hamish S. Scott; Julie McGaughran; John Christodoulou; David R. Thorburn; Bryony A. Thompson; Chirag V. Patel; Greg Smith; Anne O’Donnell-Luria; Simon Sadedin; Heidi L. Rehm; Sebastian Lunke; Jeremiah Wander; Kaitlin E. Samocha; Cas Simons; Daniel G. MacArthur; Zornitza Stark

NewbornsInSA multi-omic newborn screening: protocol for a prospective cohort study

新生儿多组学筛查研究：一项前瞻性队列研究的方案

BMJ Open

IF2.3

2026-03-110

PRE

Piloting an Interpretive External Quality Assurance Model for Genomic Testing for Childhood Syndromes and Intellectual Disability

the journal of molecular diagnostics

IF0

2025-12-180

OAAI

Critically unwell infants and children with mitochondrial disorders diagnosed by ultrarapid genomic sequencing

GENETICS IN MEDICINE

IF6.2

2025-01-010

PRE

Shaping the future of kidney genetics in Australia: proceedings from the KidGen policy implementation workshop 2023

HUMAN GENOMICS

IF4.3

2024-08-172

OAAI

Mallawaarachchi, Amali; Biros, Erik; Harris, Trudie; Bennetts, Bruce; Boughtwood, Tiffany; Elliott, Justine; Fowles, Lindsay; Gardos, Robert; Garza, Denisse; Goranitis, Ilias; Haas, Matilda; Huntley, Vanessa; Jefferis, Julia; Kassahn, Karin; Leaver, Anna; Lundie, Ben; Lunke, Sebastian; O'Connor, Caitlin; Pratt, Greg; Quinlan, Catherine; Shearman, Dianne; Soraru, Jacqueline; Sundaram, Madhivanan; Tchan, Michel; Valente, Giulia; White, Julie; Wilkins, Ella; Alexander, Steve I.; Amir, Noa; Best, Stephanie; Gul, Hossai; Jayasinghe, Kushani; McCarthy, Hugh; Patel, Chirag; Stark, Zornitza; Mallett, Andrew J.

Myeloid neoplasms arising after methotrexate therapy for autoimmune rheumatological diseases do not exhibit poor-risk molecular features

BLOOD CANCER JOURNAL

IF11.6

2024-07-190

OAAI

Unraveling facets of MECOM-associated syndrome: somatic genetic rescue, clonal hematopoiesis, and phenotype expansion

BLOOD ADVANCES

IF7.1

2024-06-271

PRE

Venugopal, Parvathy; Arts, Peer; Fox, Lucy C.; Simons, Annet; Hiwase, Devendra K.; Bardy, Peter G.; Swift, Annette; Ross, David M.; van Vulpen, Lize F. D.; Buijs, Arjan; Bolton, Kelly L.; Getta, Bartlomiej; Furlong, Eliska; Carter, Tina; Krapels, Ingrid; Hoeks, Marlijn; Al Kindy, Adila; Al Kindy, Farah; de Munnik, Sonja; Evans, Pamela; Frank, Mahalia S. B.; Bournazos, Adam M.; Cooper, Sandra T.; Ha, Thuong Thi; Jackson, Matilda R.; Arriola-Martinez, Luis; Phillips, Kerry; Brennan, Yvonne; Bakshi, Madhura; Ambler, Karen; Gao, Song; Kassahn, Karin S.; Kenyon, Rosalie; Hung, Kevin; Babic, Milena; Mcgovern, Alan; Rawlings, Lesley; Vakulin, Cassandra; Dejong, Lucas; Fathi, Rema; Mcrae, Simon; Myles, Nicholas; Ladon, Dariusz; Jongmans, Marjolijn; Kuiper, Roland P.; Poplawski, Nicola K.; Barbaro, Pasquale; Blombery, Piers; Brown, Anna L.; Hahn, Christopher N.; Scott, Hamish S.

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

新生儿筛查的多组学方法: 机遇与挑战

INTERNATIONAL JOURNAL OF NEONATAL SCREENING

IF4

2024-06-213

OAAI

Reanalysis of genomic data in rare disease: current practice and attitudes among Australian clinical and laboratory genetics services

罕见病基因组数据的再分析: 澳大利亚临床和实验室遗传学服务的当前实践和态度

EUROPEAN JOURNAL OF HUMAN GENETICS

IF4.6

2024-05-255

OAAI

Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death ( jan, pg - 180 ,2023)

NATURE MEDICINE

IF50

2023-07-100

Byrne, Alicia B.; Arts, Peer; Ha, Thuong T.; Kassahn, Karin S.; Paris, Lynn S.; O'Donnell-Luria, Anne; Babic, Milena; Frank, Mahalia S. B.; Feng, Jinghua; Wang, Paul; Lawrence, David M.; Eshraghi, Leila; Arriola, Luis; Toubia, John; Nguyen, Hung; McGillivray, George; Pinner, Jason; McKenzie, Fiona; Morrow, Rebecca; Lipsett, Jill; Manton, Nick; Khong, T. Yee; Moore, Lynette; Liebelt, Jan E.; Schreiber, Andreas W.; King-Smith, Sarah L.; Hardy, Tristan S. E.; Jackson, Matilda R.; Barnett, Christopher P.; Scott, Hamish S.

Integrated multi-omics for rapid rare disease diagnosis on a national scale

NATURE MEDICINE

IF50

2023-06-0835

OAAI

Lunke, Sebastian; Bouffler, Sophie. E. E.; Patel, Chirag. V. V.; Sandaradura, Sarah. A. A.; Wilson, Meredith; Pinner, Jason; Hunter, Matthew. F. F.; Barnett, Christopher. P. P.; Wallis, Mathew; Kamien, Benjamin; Tan, Tiong. Y. Y.; Freckmann, Mary-Louise; Chong, Belinda; Phelan, Dean; Francis, David; Kassahn, Karin. S. S.; Ha, Thuong; Gao, Song; Arts, Peer; Jackson, Matilda. R. S. R.; Scott, Hamish. S. S.; Eggers, Stefanie; Rowley, Simone; Boggs, Kirsten; Rakonjac, Ana; Brett, Gemma. R. R.; de Silva, Michelle. G. G.; Springer, Amanda; Ward, Michelle; Stallard, Kirsty; Simons, Cas; Conway, Thomas; Halman, Andreas; Van Bergen, Nicole. J. J.; Sikora, Tim; Semcesen, Liana. N. N.; Stroud, David. A. A.; Compton, Alison. G. G.; Thorburn, David. R. R.; Bell, Katrina. M. M.; Sadedin, Simon; North, Kathryn. N. N.; Christodoulou, John; Stark, Zornitza

Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death

基因组尸检以确定妊娠丢失和围产儿死亡的根本原因

NATURE MEDICINE

IF50

2023-01-1924

OAAI

Byrne, Alicia B.; Arts, Peer; Ha, Thuong T.; Kassahn, Karin S.; Pais, Lynn S.; O'Donnell-Luria, Anne; Babic, Milena; Frank, Mahalia S. B.; Feng, Jinghua; Wang, Paul; Lawrence, David M.; Eshraghi, Leila; Arriola, Luis; Toubia, John; Nguyen, Hung; McGillivray, George; Pinner, Jason; McKenzie, Fiona; Morrow, Rebecca; Lipsett, Jill; Manton, Nick; Khong, T. Yee; Moore, Lynette; Liebelt, Jan E.; Schreiber, Andreas W.; King-Smith, Sarah L.; Hardy, Tristan S. E.; Jackson, Matilda R.; Barnett, Christopher P.; Scott, Hamish S.; Aguet, Francois; Arachchi, Harindra M.; Austin-Tse, Christina A.; Babb, Larry; Baxter, Samantha M.; Brand, Harrison; Byrne, Alicia B.; Chang, Jaime; Chao, Katherine R.; Collins, Ryan L.; Cummings, Beryl; Delano, Kayla; DiTroia, Stephanie P.; England, Eleina; Evangelista, Emily; Everett, Selin; Francioli, Laurent C.; Fu, Jack; Ganesh, Vijay S.; Garimella, Kiran, V; Gauthier, Laura D.; Goodrich, Julia K.; Gudmundsson, Sanna; Hall, Stacey J.; Huang, Yongqing; Jahl, Steve; Laricchia, Kristen M.; Larkin, Kathryn E.; Lek, Monkol; Lemire, Gabrielle; Lipson, Rachel B.; Lovgren, Alysia Kern; MacArthur, Daniel G.; Mangilog, Brian E.; Mano, Stacy; Marshall, Jamie L.; Mullen, Thomas E.; Nguyen, Kevin K.; O'Heir, Emily; O'Leary, Melanie C.; Osei-Owusu, Ikeoluwa A.; Pais, Lynn S.; Chavez, Jorge Perez de Acha; Pierce-Hoffman, Emma; Rehm, Heidi L.; Serrano, Milan; Singer-Berk, Moriel; Snow, Hana; Solomonson, Matthew; Son, Rachel G.; Sveden, Abigail; Talkowski, Michael; Tiao, Grace; Udler, Miriam S.; Valivullah, Zaheer; Valkanas, Elise; VanNoy, Grace E.; Wang, Qingbo S.; Watts, Nicholas A.; Weisburd, Ben; Williamson, Clara E.; Wilson, Michael W.; Witzgall, Lauren; Wojcik, Monica H.; Wong, Isaac; Wood, Jordan C.; Zhang, Shifa; Abeysuriya, Disna; Ades, Lesley C.; Amor, David J.; Arbuckle, Susan; Bakshi, Madhura; Barnete, Christopher P.; Berry, Bligh; Boughtwood, Tiffany; Bournazos, Adam; Bray, Alessandra; Chan, Fiona; Chan, Yuen; Chung, Clara; Clark, Jonathan; Collett, Jackie; Colley, Alison; Collins, Felicity; Cooper, Sandra; Corbett, Mark A.; Dahlstrom, Jane E.; Dargaville, Peter; Davies, Janene; Davis, Tenielle; Dearman, Jarrad; Dissanayake, Jayanthi; Dobbins, Julia; Doyle, Helen; Dubowsky, Andrew; Edwards, Matt; Ewans, Lisa J.; Fadia, Mitali; Fennell, Andrew; Finlay, Ken; French, Andrew; Friend, Kathryn; Gardner, Alison E.; Gecz, Jozef; Graf, Nicole; Haan, Eric A.; Hollingsworth, Georgina; Horton, Ari E.; Howting, Denise; Hunter, Matthew F.; Jevon, Gareth; Kamien, Benjamin; Kennedy, Debra; Khong, T. Yee; Krivanek, Michael; Kroes, Thessa; Krzesinski, Emma, I; Kwan, Edward; Lau, Stephanie; LeBlanc, Shannon; Liebelt, Jan; Lindsey-Temple, Suzanna; Lipsett, Jill; Loo, Christine K. C.; Low, Julia; Mallawaarachchi, Amali; Manton, Nick; Matsika, Admire; Mattiske, Tessa; McGaughran, Julie; McGillivray, George; McGregor, Lesley; McKenzie, Fiona; Mittal, Namita; Moghimi, Ali; Moore, Lynette; Albayrak, Hatice Mutlu; Ng, Jessica; Nicholl, Jillian; Pachter, Nicholas; Papadimitriou, John; Parker, Renae; Parsons, Sarah; Patel, Chirag; Pawlowski, Rhonda; Perez-Jurado, Luis A.; Pinner, Jason R.; Politis, Katerina; Poulton, Cathryn; Power, Theresa; Quinn, Michael; Rajagopalan, Sulekha; Regan, Matthew; Rodgers, Jonathan; Rorke, Steuart; Sachdev, Rani; Sallevelt, Suzanne; Sandaradura, Sarah A.; Shamassi, Maryam; Shamon, Roshan; Sherburn, Isabella; Slee, Ennie; Solinas, Annalisa; Sugo, Ella; Thompson, Elizabeth; Tripathy, Sagarika; Vasudevan, Anand; Vazquez, Melisa; Verma, Kunal; Viki, Mthulisi; Wallis, Mathew; Webber, Dani L.; Weber, Martin; Whale, Karen; Wilson, Meredith; Worgan, Lisa; Yu, Sui

Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation

Shariant平台: 支持澳大利亚临床基因检测实验室之间的证据共享，以支持变异解释

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2022-11-0113

OAAI

Tudini, Emma; Andrews, James; Lawrence, David M.; King-Smith, Sarah L.; Baker, Naomi; Baxter, Leanne; Beilby, John; Bennetts, Bruce; Beshay, Victoria; Black, Michael; Boughtwood, Tiffany F.; Brion, Kristian; Cheong, Pak Leng; Christie, Michael; Christodoulou, John; Chong, Belinda; Cox, Kathy; Davis, Mark R.; Dejong, Lucas; Dinger, Marcel E.; Doig, Kenneth D.; Douglas, Evelyn; Dubowsky, Andrew; Ellul, Melissa; Fellowes, Andrew; Fisk, Katrina; Fortuno, Cristina; Friend, Kathryn; Gallagher, Renee L.; Gao, Song; Hackett, Emma; Hadler, Johanna; Hipwell, Michael; Ho, Gladys; Hollway, Georgina; Hooper, Amanda J.; Kassahn, Karin S.; Krishnaraj, Rahul; Lau, Chiyan; Huong Le; San Leong, Huei; Lundie, Ben; Lunke, Sebastian; Marty, Anthony; McPhillips, Mary; Nguyen, Lan T.; Nones, Katia; Palmer, Kristen; Pearson, John, V; Quinn, Michael C. J.; Rawlings, Lesley H.; Sadedin, Simon; Sanchez, Louisa; Schreiber, Andreas W.; Sigalas, Emanouil; Simsek, Aygul; Soubrier, Julien; Stark, Zornitza; Thompson, Bryony A.; James, U.; Vakulin, Cassandra G.; Wells, Amanda, V; Wise, Cheryl A.; Woods, Rick; Ziolkowski, Andrew; Brion, Marie-Jo; Scott, Hamish S.; Thorne, Natalie P.; Spurdle, Amanda B.

The clinical and genetic features of hereditary pancreatitis in South Australia

MEDICAL JOURNAL OF AUSTRALIA

IF8.5

2022-05-163

Whole-Genome Sequencing of SARS-CoV-2 from Quarantine Hotel Outbreak

EMERGING INFECTIOUS DISEASES

IF6.6

2021-08-018

OAAI

Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2018-05-0165

OAAI

Cheng, Hanyin; Dharmadhikari, Avinash V.; Varland, Sylvia; Ma, Ning; Domingo, Deepti; Kleyner, Robert; Rope, Alan F.; Yoon, Margaret; Stray-Pedersen, Asbjorg; Posey, Jennifer E.; Crews, Sarah R.; Eldomery, Mohammad K.; Akdemir, Zeynep Coban; Lewis, Andrea M.; Sutton, Vernon R.; Rosenfeld, Jill A.; Conboy, Erin; Agre, Katherine; Xia, Fan; Walkiewicz, Magdalena; Longoni, Mauro; High, Frances A.; van Slegtenhorst, Marjon A.; Mancini, Grazia M. S.; Finnila, Candice R.; van Haeringen, Arie; den Hollander, Nicolette; Ruivenkamp, Claudia; Naidu, Sakkubai; Mahida, Sonal; Palmer, Elizabeth E.; Murray, Lucinda; Lim, Derek; Jayakar, Parul; Parker, Michael J.; Giusto, Stefania; Stracuzzi, Emanuela; Romano, Corrado; Beighley, Jennifer S.; Bernier, Raphael A.; Kury, Sebastien; Nizon, Mathilde; Corbett, Mark A.; Shaw, Marie; Gardner, Alison; Barnett, Christopher; Armstrong, Ruth; Kassahn, Karin S.; Van Dijck, Anke; Vandeweyer, Geert; Kleefstra, Tjitske; Schieving, Jolanda; Jongmans, Marjolijn J.; de Vries, Bert B. A.; Pfundt, Rolph; Kerr, Bronwyn; Rojas, Samantha K.; Boycott, Kym M.; Person, Richard; Willaert, Rebecca; Eichler, Evan E.; Kooy, R. Frank; Yang, Yaping; Wu, Joseph C.; Lupski, James R.; Arnesen, Thomas; Cooper, Gregory M.; Chung, Wendy K.; Gecz, Jozef; Stessman, Holly A. F.; Meng, Linyan; Lyon, Gholson J.

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

迷失在翻译中: 在基因组规模的癌症研究中返回种系遗传结果

GENOME MEDICINE

IF11.2

2017-04-2825

OAAI

Hypermutation In Pancreatic Cancer

胰腺癌的超突变

GASTROENTEROLOGY

IF25.1

2017-01-01170

OAAI

Humphris, Jeremy L.; Patch, Ann-Marie; Nones, Katia; Bailey, Peter J.; Johns, Amber L.; Mckay, Skye; Chang, David K.; Miller, David K.; Pajic, Marina; Kassahn, Karin S.; Quinn, Michael C. J.; Bruxner, Timothy J. C.; Christ, Angelika N.; Harliwong, Ivon; Idrisoglu, Senel; Manning, Suzanne; Nourse, Craig; Nourbakhsh, Ehsan; Stone, Andrew; Wilson, Peter J.; Anderson, Matthew; Fink, J. Lynn; Holmes, Oliver; Kazakoff, Stephen; Leonard, Conrad; Newell, Felicity; Waddell, Nick; Wood, Scott; Mead, Ronald S.; Xu, Qinying; Wu, Jianmin; Pinese, Mark; Cowley, Mark J.; Jones, Marc D.; Nagrial, Adnan M.; Chin, Venessa T.; Chantrill, Lorraine A.; Mawson, Amanda; Chou, Angela; Scarlett, Christopher J.; Pinho, Andreia V.; Rooman, Ilse; Giry-Laterriere, Marc; Samra, Jaswinder S.; Kench, James G.; Merrett, Neil D.; Toon, Christopher W.; Epari, Krishna; Nguyen, Nam Q.; Barbour, Andrew; Zeps, Nikolajs; Jamieson, Nigel B.; McKay, Colin J.; Carter, C. Ross; Dickson, Euan J.; Graham, Janet S.; Duthie, Fraser; Oien, Karin; Hair, Jane; Morton, Jennifer P.; Sansom, Owen J.; Gruetzmann, Robert; Hruban, Ralph H.; Maitra, Anirban; Iacobuzio-Donahue, Christine A.; Schulick, Richard D.; Wolfgang, Christopher L.; Morgan, Richard A.; Lawlor, Rita T.; Rusev, Borislav; Corbo, Vincenzo; Salvia, Roberto; Cataldo, Ivana; Tortora, Giampaolo; Tempero, Margaret A.; Hofmann, Oliver; Eshleman, James R.; Pilarsky, Christian; Scarpa, Aldo; Musgrove, Elizabeth A.; Gill, Anthony J.; Pearson, John V.; Grimmond, Sean M.; Waddell, Nicola; Biankin, Andrew V.

Integrated genomic and transcriptomic analysis of human brain metastases identifies alterations of potential clinical significance

JOURNAL OF PATHOLOGY

IF5.2

2015-08-19102

OAAI

Saunus, Jodi M.; Quinn, Michael C. J.; Patch, Ann-Marie; Pearson, John V.; Bailey, Peter J.; Nones, Katia; Reed, Amy E. McCart; Miller, David; Wilson, Peter J.; Al-Ejeh, Fares; Mariasegaram, Mythily; Lau, Queenie; Withers, Teresa; Jeffree, Rosalind L.; Reid, Lynne E.; Da Silva, Leonard; Matsika, Admire; Niland, Colleen M.; Cummings, Margaret C.; Bruxner, Timothy J. C.; Christ, Angelika N.; Harliwong, Ivon; Idrisoglu, Senel; Manning, Suzanne; Nourse, Craig; Nourbakhsh, Ehsan; Wani, Shivangi; Anderson, Matthew J.; Fink, J. Lynn; Holmes, Oliver; Kazakoff, Stephen; Leonard, Conrad; Newell, Felicity; Taylor, Darrin; Waddell, Nick; Wood, Scott; Xu, Qinying; Kassahn, Karin S.; Narayanan, Vairavan; Taib, Nur Aishah; Teo, Soo-Hwang; Chow, Yock Ping; Jat, Parmjit S.; Brandner, Sebastian; Flanagan, Adrienne M.; Khanna, Kum Kum; Chenevix-Trench, Georgia; Grimmond, Sean M.; Simpson, Peter T.; Waddell, Nicola; Lakhani, Sunil R.

Karin S. Kassahn

个人简介

教育背景

工作经历

荣誉奖项

研究方向