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A

André E. Minoche

The Kinghorn Cancer Centre
H指数:32
被引数:4,820

个人简介

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荣誉奖项

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Use of Whole-Genome Sequencing for Mitochondrial Disease Diagnosis
NEUROLOGY
IF8.5
2022-08-1629
OAAI
Davis, Ryan L.; Kumar, Kishore R.; Puttick, Clare; Liang, Christina; Ahmad, Kate E.; Edema-Hildebrand, Fabienne; Park, Jin-Sung; Minoche, Andre E.; Gayevskiy, Velimir; Mallawaarachchi, Amali C.; Christodoulou, John; Schofield, Deborah; Dinger, Marcel E.; Cowley, Mark J.; Sue, Carolyn M.
Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis
EUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
2022-08-1563
OAAI
Ewans, Lisa J.; Minoche, Andre E.; Schofield, Deborah; Shrestha, Rupendra; Puttick, Clare; Zhu, Ying; Drew, Alexander; Gayevskiy, Velimir; Elakis, George; Walsh, Corrina; Ades, Lesley C.; Colley, Alison; Ellaway, Carolyn; Evans, Carey-Anne; Freckmann, Mary-Louise; Goodwin, Linda; Hackett, Anna; Kamien, Benjamin; Kirk, Edwin P.; Lipke, Michelle; Mowat, David; Palmer, Elizabeth; Rajagopalan, Sulekha; Ronan, Anne; Sachdev, Rani; Stevenson, William; Turner, Anne; Wilson, Meredith; Worgan, Lisa; Morel-Kopp, Marie-Christine; Field, Michael; Buckley, Michael F.; Cowley, Mark J.; Dinger, Marcel E.; Roscioli, Tony
The Australian dingo is an early offshoot of modern breed dogs
SCIENCE ADVANCES
IF12.5
2022-04-2221
OAAI
Field, Matt A.; Yadav, Sonu; Dudchenko, Olga; Esvaran, Meera; Rosen, Benjamin D.; Skvortsova, Ksenia; Edwards, Richard J.; Keilwagen, Jens; Cochran, Blake J.; Manandhar, Bikash; Bustamante, Sonia; Rasmussen, Jacob Agerbo; Melvin, Richard G.; Chernoff, Barry; Omer, Arina; Colaric, Zane; Chan, Eva K. F.; Minoche, Andre E.; Smith, Timothy P. L.; Gilbert, M. Thomas P.; Bogdanovic, Ozren; Zammit, Robert A.; Thomas, Torsten; Aiden, Erez L.; Ballard, J. William O.
Genome sequencing in congenital cataracts improves diagnostic yield
HUMAN MUTATION
IF3.7
2021-06-1514
OAAI
Ma, Alan; Grigg, John R.; Flaherty, Maree; Smith, James; Minoche, Andre E.; Cowley, Mark J.; Nash, Benjamin M.; Ho, Gladys; Gayagay, Thet; Lai, Tiffany; Farnsworth, Elizabeth; Hackett, Emma L.; Slater, Katrina; Wong, Karen; Holman, Katherine J.; Jenkins, Gemma; Cheng, Anson; Martin, Frank; Brown, Natasha J.; Leighton, Sarah E.; Amor, David J.; Goel, Himanshu; Dinger, Marcel E.; Bennetts, Bruce; Jamieson, Robyn, V
Diagnostic Yield of Whole Genome Sequencing After Nondiagnostic Exome Sequencing or Gene Panel in Developmental and Epileptic Encephalopathies
NEUROLOGY
IF8.5
2021-03-3062
PRE
Palmer, Elizabeth Emma; Sachdev, Rani; Macintosh, Rebecca; Melo, Uira Souto; Mundlos, Stefan; Righetti, Sarah; Kandula, Tejaswi; Minoche, Andre E.; Puttick, Clare; Gayevskiy, Velimir; Hesson, Luke; Idrisoglu, Senel; Shoubridge, Cheryl; Thai, Monica Hong Ngoc; Davis, Ryan L.; Drew, Alexander P.; Sampaio, Hugo; Andrews, Peter Ian; Lawson, John; Cardamone, Michael; Mowat, David; Colley, Alison; Kummerfeld, Sarah; Dinger, Marcel E.; Cowley, Mark J.; Roscioli, Tony; Bye, Ann; Kirk, Edwin
Genomic diagnostics in polycystic kidney disease: an assessment of real-world use of whole-genome sequencing
EUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
2021-01-1233
OAAI
Mallawaarachchi, Amali C.; Lundie, Ben; Hort, Yvonne; Schonrock, Nicole; Senum, Sarah R.; Gayevskiy, Velimir; Minoche, Andre E.; Hollway, Georgina; Ohnesorg, Thomas; Hinchcliffe, Marcus; Patel, Chirag; Tchan, Michel; Mallett, Andrew; Dinger, Marcel E.; Rangan, Gopala; Cowley, Mark J.; Harris, Peter C.; Burnett, Leslie; Shine, John; Furlong, Timothy J.
Fatal Perinatal Mitochondrial Cardiac Failure Caused by Recurrent De Novo Duplications in the ATAD3 Locus

ATAD3位点反复重复引起的致命性围产期线粒体心力衰竭

MED
IF11.8
2021-01-0137
OAAI
Frazier, Ann E.; Compton, Alison G.; Kishita, Yoshihito; Hock, Daniella H.; Welch, AnneMarie E.; Amarasekera, Sumudu S. C.; Rius, Rocio; Formosa, Luke E.; Imai-Okazaki, Atsuko; Francis, David; Wang, Min; Lake, Nicole J.; Tregoning, Simone; Jabbari, Jafar S.; Lucattini, Alexis; Nitta, Kazuhiro R.; Ohtake, Akira; Murayama, Kei; Amor, David J.; McGillivray, George; Wong, Flora Y.; van der Knaap, Marjo S.; Vermeulen, R. Jeroen; Wiltshire, Esko J.; Fletcher, Janice M.; Lewis, Barry; Baynam, Gareth; Ellaway, Carolyn; Balasubramaniam, Shanti; Bhattacharya, Kaustuv; Freckmann, Mary-Louise; Arbuckle, Susan; Rodriguez, Michael; Taft, Ryan J.; Sadedin, Simon; Cowley, Mark J.; Minoche, Andre E.; Calvo, Sarah E.; Mootha, Vamsi K.; Ryan, Michael T.; Okazaki, Yasushi; Stroud, David A.; Simons, Cas; Christodoulou, John; Thorburn, David R.
RLIM Is a Candidate Dosage-Sensitive Gene for Individuals with Varying Duplications of Xq13, Intellectual Disability, and Distinct Facial Features
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2020-12-018
OAAI
Palmer, Elizabeth E.; Carroll, Renee; Shaw, Marie; Kumar, Raman; Minoche, Andre E.; Leffler, Melanie; Murray, Lucinda; Macintosh, Rebecca; Wright, Dale; Troedson, Chris; McKenzie, Fiona; Townshend, Sharron; Ward, Michelle; Nawaz, Urwah; Ravine, Anja; Runke, Cassandra K.; Thorland, Erik C.; Hummel, Marybeth; Foulds, Nicola; Pichon, Olivier; Isidor, Bertrand; Le Caignec, Cedric; Demeer, Benedicte; Andrieux, Joris; Albarazi, Salam Hadah; Bye, Ann; Sachdev, Rani; Kirk, Edwin P.; Cowley, Mark J.; Field, Mike; Gecz, Jozef
Revealing hidden genetic diagnoses in the ocular anterior segment disorders
GENETICS IN MEDICINE
IF6.2
2020-10-0134
OAAI
Ma, Alan; Yousoof, Saira; Grigg, John R.; Flaherty, Maree; Minoche, Andre E.; Cowley, Mark J.; Nash, Benjamin M.; Ho, Gladys; Gayagay, Thet; Lai, Tiffany; Farnsworth, Elizabeth; Hackett, Emma L.; Fisk, Katrina; Wong, Karen; Holman, Katherine J.; Jenkins, Gemma; Cheng, Anson; Martin, Frank; Karaconji, Tanya; Elder, James E.; Enriquez, Annabelle; Wilson, Meredith; Amor, David J.; Stutterd, Chloe A.; Kamien, Benjamin; Nelson, John; Dinger, Marcel E.; Bennetts, Bruce; Jamieson, Robyn, V
The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease

基因组测序在疑似线粒体疾病的儿科队列中的诊断效用

GENETICS IN MEDICINE
IF6.2
2020-07-0150
OAAI
Riley, Lisa G.; Cowley, Mark J.; Gayevskiy, Velimir; Minoche, Andre E.; Puttick, Clare; Thorburn, David R.; Rius, Rocio; Compton, Alison G.; Menezes, Minal J.; Bhattacharya, Kaustuv; Coman, David; Ellaway, Carolyn; Alexander, Ian E.; Adams, Louisa; Kava, Maina; Robinson, Jacqui; Sue, Carolyn M.; Balasubramaniam, Shanti; Christodoulou, John
Canfam_GSD: De novo chromosome-length genome assembly of the German Shepherd Dog (Canis lupus familiaris) using a combination of long reads, optical mapping, and Hi-C

Canfam_GSD: 德国牧羊犬 (Canis lupus familiaris) 的从头染色体长度基因组组装，使用长读数，光学作图和hi-c的组合

GIGASCIENCE
IF3.9
2020-04-0142
OAAI
Field, Matt A.; Rosen, Benjamin D.; Dudchenko, Olga; Chan, Eva K. F.; Minoche, Andre E.; Edwards, Richard J.; Barton, Kirston; Lyons, Ruth J.; Tuipulotu, Daniel Enosi; Hayes, Vanessa M.; Omer, Arina D.; Colaric, Zane; Keilwagen, Jens; Skvortsova, Ksenia; Bogdanovic, Ozren; Smith, Martin A.; Aiden, Erez Lieberman; Smith, Timothy P. L.; Zammit, Robert A.; Ballard, J. William O.
Whole genome sequencing for the genetic diagnosis of heterogenous dystonia phenotypes
PARKINSONISM & RELATED DISORDERS
IF3.4
2019-12-0145
OAAI
Kumar, Kishore R.; Davis, Ryan L.; Tchan, Michel C.; Wali, G. M.; Mahant, Neil; Ng, Karl; Kotschet, Katya; Siow, Sue-Faye; Gu, Jason; Walls, Zachary; Kang, Ce; Wali, Gautam; Levy, Stan; Sen Phua, Chung; Yiannikas, Con; Darveniza, Paul; Chang, Florence C. F.; Morales-Briceno, Hugo; Rowe, Dominic B.; Drew, Alex; Gayevskiy, Velimir; Cowley, Mark J.; Minoche, Andre E.; Tisch, Stephen; Hayes, Michael; Kummerfeld, Sarah; Fung, Victor S. C.; Sue, Carolyn M.
Response to Brodehl et al.
GENETICS IN MEDICINE
IF6.2
2019-05-010
OAAI
Minoche, Andre E.; Horvat, Claire; Johnson, Renee; Gayevskiy, Velimir; Morton, Sarah U.; Drew, Alexander P.; Woo, Kerhan; Statham, Aaron L.; Lundie, Ben; Bagnall, Richard D.; Ingles, Jodie; Semsarian, Christopher; Seidman, J. G.; Seidman, Christine E.; Dinger, Marcel E.; Cowley, Mark J.; Fatkin, Diane
De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-progressive Neurocognitive Syndrome (vol 104, pg 542, 2019)
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2019-04-012
OAAI
Palmer, Elizabeth E.; Hong, Seungbeom; Al Zahrani, Fatema; Hashem, Mais O.; Aleisa, Fajr A.; Ahmed, Heba M. Jalal; Kandula, Tejaswi; Macintosh, Rebecca; Minoche, Andre E.; Puttick, Clare; Gayevskiy, Velimir; Drew, Alexander P.; Cowley, Mark J.; Dinger, Marcel; Rosenfeld, Jill A.; Xiao, Rui; Cho, Megan T.; Yakubu, Suliat F.; Henderson, Lindsay B.; Sacoto, Maria J. Guillen; Begtrup, Amber; Hamad, Muddathir; Shinawi, Marwan; Andrews, Marisa V.; Jones, Marilyn C.; Lindstrom, Kristin; Bristol, Ruth E.; Kayani, Saima; Snyder, Molly; Villanueva, Maria Mercedes; Schteinschnaider, Angeles; Faivre, Laurence; Thauvin, Christel; Vitobello, Antonio; Roscioli, Tony; Kirk, Edwin P.; Bye, Ann; Merzaban, Jasmeen; Jaremko, Lukasz; Jaremko, Mariusz; Sachdev, Rani K.; Alkuraya, Fowzan S.; Arold, Stefan T.
De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2019-03-0118
OAAI
Palmer, Elizabeth E.; Hong, Seungbeom; Al Zahrani, Fatema; Hashem, Mais O.; Aleisa, Fajr A.; Ahmed, Heba M. Jalal; Kandula, Tejaswi; Macintosh, Rebecca; Minoche, Andre E.; Puttick, Clare; Gayevskiy, Velimir; Drewl, Alexander P.; Cowley, Mark J.; Dinger, Marcel; Rosenfeld, Jill A.; Xiao, Rui; Cho, Megan T.; Yakubu, Suliat F.; Henderson, Lindsay B.; Sacoto, Maria J. Guillen; Begtrup, Amber; Hamad, Muddathir; Shinawii, Marwan; Andrewsi, Marisa, V; Jones, Marilyn C.; Lindstrom, Kristin; Bristol, Ruth E.; Kayani, Saima; Snyder, Molly; Mercedes Villanueva, Maria; Schteinschnaider, Angeles; Faivre, Laurence; Thauvin, Christel; Vitobello, Antonio; Roscioli, Tony; Kirk, Edwin P.; Bye, Ann; Merzaban, Jasmeen; Jaremko, Lukas; Jaremko, Mariusz; Sachdev, Rani K.; Alkuraya, Fowzan S.; Arolds, Stefan T.

研究方向

暂未获取到该数据
M
Mark J. Cowley
H 指数:63论文数:409被引数:1.9万
H
Heinz Himmelbauer
H 指数:44论文数:223被引数:1.5万
J
Juliane C. Dohm
H 指数:26论文数:94被引数:6,310
M
Marcel E. Dinger
H 指数:71论文数:303被引数:3.2万
V
Velimir Gayevskiy
H 指数:28论文数:69被引数:2,811
B
Bernd Weißhaar
H 指数:74论文数:301被引数:3.2万
C
Clare Puttick
H 指数:28论文数:106被引数:4,582
E
Elizabeth E. Palmer
H 指数:47论文数:193被引数:6,386
A
Alexander P. Drew
H 指数:15论文数:33被引数:873
T
Thomas Schmidt
H 指数:41论文数:158被引数:4,831