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M

Mark R. Davis

pathwest laboratory medicine
H指数:52
被引数:1.0万

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荣誉奖项

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Congenital Titinopathy: Comprehensive Characterization of the Most Severe End of the Disease Spectrum
ANNALS OF NEUROLOGY
IF7.7
2025-01-240
OAAI
Coppens, Sandra; Deconinck, Nicolas; Sullivan, Patricia; Smolnikov, Andrei; Clayton, Joshua S.; Griffin, Kaitlyn R.; Jones, Kristi J.; Vilain, Catheline N.; Kadhim, Hazim; Bryen, Samantha J.; Faiz, Fathimath; Waddell, Leigh B.; Evesson, Frances J.; Bakshi, Madhura; Pinner, Jason R.; Charlton, Amanda; Brammah, Susan; Graf, Nicole S.; Krivanek, Michael; Tay, Chee Geap; Foulds, Nicola C.; Illingworth, Marjorie A.; Thomas, Neil H.; Ellard, Sian; Mazanti, Ingrid; Park, Soo-Mi; French, Courtney E.; Brewster, Jennifer; Belteki, Gusztav; Hoodbhoy, Shazia; Allinson, Kieren; Krishnakumar, Deepa; Baynam, Gareth; Wood, Bradley M.; Ward, Michelle; Vijayakumar, Kayal; Syed, Amber; Murugan, Archana; Majumdar, Anirban; Scurr, Ingrid J.; Splitt, Miranda P.; Moldovan, Corina; de Silva, Deepthi C.; Senanayake, Kumudu; Gardeitchik, Thatjana; Arens, Yvonne; Cooper, Sandra T.; Laing, Nigel G.; Raymond, F. Lucy; Jungbluth, Heinz; Kamsteeg, Erik-Jan; Manzur, Adnan; Corley, Susan M.; Ravenscroft, Gianina; Wilkins, Marc R.; Cowley, Mark J.; Pinese, Mark; Phadke, Rahul; Davis, Mark R.; Muntoni, Francesco; Oates, Emily C.
A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry (vol 15, 6327, 2024)
NATURE COMMUNICATIONS
IF15.7
2024-10-170
OAAI
Cortese, Andrea; Beecroft, Sarah J.; Facchini, Stefano; Curro, Riccardo; Cabrera-Serrano, Macarena; Stevanovski, Igor; Chintalaphani, Sanjog R.; Gamaarachchi, Hasindu; Weisburd, Ben; Folland, Chiara; Monahan, Gavin; Scriba, Carolin K.; Dofash, Lein; Johari, Mridul; Grosz, Bianca R.; Ellis, Melina; Fearnley, Liam G.; Tankard, Rick; Read, Justin; Merve, Ashirwad; Dominik, Natalia; Vegezzi, Elisa; Schnekenberg, Ricardo P.; Fernandez-Eulate, Gorka; Masingue, Marion; Giovannini, Diane; Delatycki, Martin B.; Storey, Elsdon; Gardner, Mac; Amor, David J.; Nicholson, Garth; Vucic, Steve; Henderson, Robert D.; Robertson, Thomas; Dyke, Jason; Fabian, Vicki; Mastaglia, Frank; Davis, Mark R.; Kennerson, Marina; Quinlivan, Ros; Hammans, Simon; Tucci, Arianna; Bahlo, Melanie; McLean, Catriona A.; Laing, Nigel G.; Stojkovic, Tanya; Houlden, Henry; Hanna, Michael G.; Deveson, Ira W.; Lockhart, Paul J.; Lamont, Phillipa J.; Fahey, Michael C.; Bugiardini, Enrico; Ravenscroft, Gianina
A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry
NATURE COMMUNICATIONS
IF15.7
2024-07-272
OAAI
Cortese, Andrea; Beecroft, Sarah J.; Facchini, Stefano; Curro, Riccardo; Cabrera-Serrano, Macarena; Stevanovski, Igor; Chintalaphani, Sanjog R.; Gamaarachchi, Hasindu; Weisburd, Ben; Folland, Chiara; Monahan, Gavin; Scriba, Carolin K.; Dofash, Lein; Johari, Mridul; Grosz, Bianca R.; Ellis, Melina; Fearnley, Liam G.; Tankard, Rick; Read, Justin; Merve, Ashirwad; Dominik, Natalia; Vegezzi, Elisa; Schnekenberg, Ricardo P.; Fernandez-Eulate, Gorka; Masingue, Marion; Giovannini, Diane; Delatycki, Martin B.; Storey, Elsdon; Gardner, Mac; Amor, David J.; Nicholson, Garth; Vucic, Steve; Henderson, Robert D.; Robertson, Thomas; Dyke, Jason; Fabian, Vicki; Mastaglia, Frank; Davis, Mark R.; Kennerson, Marina; Quinlivan, Ros; Hammans, Simon; Tucci, Arianna; Bahlo, Melanie; McLean, Catriona A.; Laing, Nigel G.; Stojkovic, Tanya; Houlden, Henry; Hanna, Michael G.; Deveson, Ira W.; Lockhart, Paul J.; Lamont, Phillipa J.; Fahey, Michael C.; Bugiardini, Enrico; Ravenscroft, Gianina; Oflazer, Piraye; Basak, Nazli A.; Kayserili, Hulya; Yesil, Gozde; Malfatti, Edoardo; Lilliker, James B.; Wicklund, Matthew; Pitceathly, Robert D. S.; Brady, Stefen; Brais, Bernard; Pellerin, David; Zuchner, Stephan; Danzi, Matt C.; Grandis, Marina; Comi, Giacomo P.; Corti, Stefania P.; Abati, Elena; Toscano, Antonio; Manini, Arianna; Ghia, Arianna; Tassorelli, Cristina; Quartesan, Ilaria; Simone, Roberto; Rossor, Alexander M.; Reilly, Mary M.; Carroll, Liam; Straub, Volker; Udd, Bjarne; Chen, Zhiyong; Bonne, Gisele
Pathogenic TNNI1 variants disrupt sarcomere contractility resulting in hypo- and hypercontractile muscle disease
SCIENCE TRANSLATIONAL MEDICINE
IF14.6
2024-04-032
OA
Donkervoort, Sandra; van de Locht, Martijn; Ronchi, Dario; Reunert, Janine; McLean, Catriona A.; Zaki, Maha; Orbach, Rotem; de Winter, Josine M.; Conijn, Stefan; Hoomoedt, Daan; Neto, Osorio Lopes Abath; Magri, Francesca; Viaene, Angela N.; Foley, A. Reghan; Gorokhova, Svetlana; Bolduc, Veronique; Hu, Ying; Acquaye, Nicole; Napoli, Laura; Park, Julien H.; Immadisetty, Kalyan; Miles, Lee B.; Essawi, Mona; McModie, Salar; Ferreira, Leonardo F.; Zanotti, Simona; Neuhaus, Sarah B.; Medne, Livija; ElBagoury, Nagham; Johnson, Kory R.; Zhang, Yong; Laing, Nigel G.; Davis, Mark R.; Bryson-Richardson, Robert J.; Hwee, Darren T.; Hartman, James J.; Malik, Fady I.; Kekenes-Huskey, Peter M.; Comi, Giacomo Pietro; Sharaf-Eldin, Wessam; Marquardt, Thorsten; Ravenscroft, Gianina; Bonnemann, Carsten G.; Ottenheijm, Coen A. C.
Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone

基因组和RNA测序仅通过外显子组测序就可以促进神经肌肉诊断从34% 中62%

ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
IF3.9
2024-03-272
OA
Marchant, Rhett G.; Bryen, Samantha J.; Bahlo, Melanie; Cairns, Anita; Chao, Katherine R.; Corbett, Alastair; Davis, Mark R.; Ganesh, Vijay S.; Ghaoui, Roula; Jones, Kristi J.; Kornberg, Andrew J.; Lek, Monkol; Liang, Christina; MacArthur, Daniel G.; Oates, Emily C.; O'Donnell-Luria, Anne; O'Grady, Gina L.; Osei-Owusu, Ikeoluwa A.; Rafehi, Haloom; Reddel, Stephen W.; Roxburgh, Richard H.; Ryan, Monique M.; Sandaradura, Sarah A.; Scott, Liam W.; Valkanas, Elise; Weisburd, Ben; Young, Helen; Evesson, Frances J.; Waddell, Leigh B.; Cooper, Sandra T.
Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy
NATURE GENETICS
IF31.8
2024-03-017
OAAI
Toepf, Ana; Cox, Dan; Zaharieva, Irina T.; Di Leo, Valeria; Sarparanta, Jaakko; Jonson, Per Harald; Sealy, Ian M.; Smolnikov, Andrei; White, Richard J.; Vihola, Anna; Savarese, Marco; Merteroglu, Munise; Wali, Neha; Laricchia, Kristen M.; Venturini, Cristina; Vroling, Bas; Stenton, Sarah L.; Cummings, Beryl B.; Harris, Elizabeth; Marini-Bettolo, Chiara; Diaz-Manera, Jordi; Henderson, Matt; Barresi, Rita; Duff, Jennifer; England, Eleina M.; Patrick, Jane; Al-Husayni, Sundos; Biancalana, Valerie; Beggs, Alan H.; Bodi, Istvan; Bommireddipalli, Shobhana; Boennemann, Carsten G.; Cairns, Anita; Chiew, Mei-Ting; Claeys, Kristl G.; Cooper, Sandra T.; Davis, Mark R.; Donkervoort, Sandra; Erasmus, Corrie E.; Fassad, Mahmoud R.; Genetti, Casie A.; Grosmann, Carla; Jungbluth, Heinz; Kamsteeg, Erik-Jan; Lornage, Xaviere; Loescher, Wolfgang N.; Malfatti, Edoardo; Manzur, Adnan; Marti, Pilar; Mongini, Tiziana E.; Muelas, Nuria; Nishikawa, Atsuko; O'Donnell-Luria, Anne; Ogonuki, Narumi; O'Grady, Gina L.; O'Heir, Emily; Paquay, Stephanie; Phadke, Rahul; Pletcher, Beth A.; Romero, Norma B.; Schouten, Meyke; Shah, Snehal; Smuts, Izelle; Sznajer, Yves; Tasca, Giorgio; Taylor, Robert W.; Tuite, Allysa; van den Bergh, Peter; Vannoy, Grace; Voermans, Nicol C.; Wanschitz, Julia V.; Wraige, Elizabeth; Yoshimura, Kimihiko; Oates, Emily C.; Nakagawa, Osamu; Nishino, Ichizo; Laporte, Jocelyn; Vilchez, Juan J.; Macarthur, Daniel G.; Sarkozy, Anna; Cordell, Heather J.; Udd, Bjarne; Busch-Nentwich, Elisabeth M.; Muntoni, Francesco; Straub, Volker
RFC1 in an Australasian neurological disease cohort: extending the genetic heterogeneity and implications for diagnostics

澳大利亚神经系统疾病队列中的RFC1: 扩展遗传异质性及其对诊断的意义

BRAIN COMMUNICATIONS
IF4.5
2023-07-256
OAAI
Scriba, Carolin K.; Stevanovski, Igor; Chintalaphani, Sanjog R.; Gamaarachchi, Hasindu; Ghaoui, Roula; Ghia, Darshan; Henderson, Robert D.; Jordan, Nerissa; Winkel, Antony; Lamont, Phillipa J.; Rodrigues, Miriam J.; Roxburgh, Richard H.; Weisburd, Ben; Laing, Nigel G.; Deveson, Ira W.; Davis, Mark R.; Ravenscroft, Gianina
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 Australian Reproductive Genetic Carrier Screening Project (Mackenzie's Mission): Design and Implementation
JOURNAL OF PERSONALIZED MEDICINE
IF3
2022-10-2832
OAAI
Archibald, Alison D.; McClaren, Belinda J.; Caruana, Jade; Tutty, Erin; King, Emily A.; Halliday, Jane L.; Best, Stephanie; Kanga-Parabia, Anaita; Bennetts, Bruce H.; Cliffe, Corrina C.; Madelli, Evanthia O.; Ho, Gladys; Liebelt, Jan; Long, Janet C.; Braithwaite, Jeffrey; Kennedy, Jillian; Massie, John; Emery, Jon D.; McGaughran, Julie; Marum, Justine E.; Boggs, Kirsten; Barlow-Stewart, Kristine; Burnett, Leslie; Dive, Lisa; Freeman, Lucinda; Davis, Mark R.; Downes, Martin J.; Wallis, Mathew; Ferrie, Monica M.; Pachter, Nicholas; Scuffham, Paul A.; Casella, Rachael; Allcock, Richard J. N.; Ong, Royston; Edwards, Samantha; Righetti, Sarah; Lunke, Sebastian; Lewis, Sharon; Walker, Susan P.; Boughtwood, Tiffany F.; Hardy, Tristan; Newson, Ainsley J.; Kirk, Edwin P.; Laing, Nigel G.; Delatycki, Martin B.

研究方向

暂未获取到该数据
N
Nigel G. Laing
H 指数:80论文数:1,233被引数:2.8万
G
Gianina Ravenscroft
H 指数:43论文数:269被引数:5,681
P
Phillipa J. Lamont
H 指数:31论文数:127被引数:4,246
S
Sandra T. Cooper
H 指数:48论文数:159被引数:7,077
M
Macarena Cabrera‐Serrano
H 指数:19论文数:78被引数:1,174
D
Daniel G. MacArthur
H 指数:113论文数:458被引数:9.6万
F
Fathimath Faiz
H 指数:12论文数:41被引数:571
K
Kathryn N. North
H 指数:98论文数:622被引数:3.1万
S
Sarah A. Sandaradura
H 指数:23论文数:47被引数:3,293
P
Padma Sivadorai
H 指数:13论文数:35被引数:933