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Andreas Zankl

University of Queensland
H指数:36
被引数:5,671

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Artificial intelligence-driven genotype-epigenotype-phenotype approaches to resolve challenges in syndrome diagnostics

人工智能驱动的基因型-表观基因型-表型方法以解决综合征诊断中的挑战

EBIOMEDICINE
IF10.8
2025-05-010
PRE
Mak, Christopher C. Y.; Klinkhammer, Hannah; Choufani, Sanaa; Reko, Nikola; Christman, Angela K.; Pisan, Elise; Chui, Martin M. C.; Lee, Mianne; Leduc, Fiona; Dempsey, Jennifer C.; Sanchez-Lara, Pedro A.; Bombei, Hannah M.; Bernat, John A.; Faivre, Laurence; Mau-Them, Frederic Tran; Palafoll, Irene Valenzuela; Canham, Natalie; Sarkar, Ajoy; Zarate, Yuri A.; Callewaert, Bert; Bukowska-Olech, Ewelina; Jamsheer, Aleksander; Zankl, Andreas; Willems, Marjolaine; Duncan, Laura; Isidor, Bertrand; Cogne, Benjamin; Boute, Odile; Vanlerberghe, Clemence; Goldenberg, Alice; Stolerman, Elliot; Low, Karen J.; Gilard, Vianney; Amiel, Jeanne; Lin, Angela E.; Gordon, Christopher T.; Doherty, Dan; Krawitz, Peter M.; Weksberg, Rosanna; Hsieh, Tzung-Chien; Chung, Brian H. Y.
The Human Phenotype Ontology in 2024: phenotypes around the world

人类表型本体论2024年: 世界各地的表型

NUCLEIC ACIDS RESEARCH
IF13.1
2023-11-1130
OAAI
Gargano, Michael A.; Matentzoglu, Nicolas; Coleman, Ben; Addo-Lartey, Eunice B.; Anagnostopoulos, Anna, V; Anderton, Joel; Avillach, Paul; Bagley, Anita M.; Bakstein, Eduard; Balhoff, James P.; Baynam, Gareth; Bello, Susan M.; Berk, Michael; Bertram, Holli; Bishop, Somer; Blau, Hannah; Bodenstein, David F.; Botas, Pablo; Boztug, Kaan; Cady, Jolana; Callahan, Tiffany J.; Cameron, Rhiannon; Carbon, Seth J.; Castellanos, Francisco; Caufield, J. Harry; Chan, Lauren E.; Chute, Christopher G.; Cruz-Rojo, Jaime; Dahan-Oliel, Noemi; Davids, Jon R.; de Dieuleveult, Maud; de Souza, Vinicius; de Vries, Bert B. A.; de Vries, Esther; DePaulo, J. Raymond; Derfalvi, Beata; Dhombres, Ferdinand; Diaz-Byrd, Claudia; Dingemans, Alexander J. M.; Donadille, Bruno; Duyzend, Michael; Elfeky, Reem; Essaid, Shahim; Fabrizzi, Carolina; Fico, Giovanna; Firth, Helen, V; Freudenberg-Hua, Yun; Fullerton, Janice M.; Gabriel, Davera L.; Gilmour, Kimberly; Giordano, Jessica; Goes, Fernando S.; Moses, Rachel Gore; Green, Ian; Griese, Matthias; Groza, Tudor; Gu, Weihong; Guthrie, Julia; Gyori, Benjamin; Hamosh, Ada; Hanauer, Marc; Hanusova, Katerina; He, Yongqun (Oliver); Hegde, Harshad; Helbig, Ingo; Holasova, Katerina; Hoyt, Charles Tapley; Huang, Shangzhi; Hurwitz, Eric; Jacobsen, Julius O. B.; Jiang, Xiaofeng; Joseph, Lisa; Keramatian, Kamyar; King, Bryan; Knoflach, Katrin; Koolen, David A.; Kraus, Megan L.; Kroll, Carlo; Kusters, Maaike; Ladewig, Markus S.; Lagorce, David; Lai, Meng-Chuan; Lapunzina, Pablo; Laraway, Bryan; Lewis-Smith, David; Li, Xiarong; Lucano, Caterina; Majd, Marzieh; Marazita, Mary L.; Martinez-Glez, Victor; McHenry, Toby H.; McInnis, Melvin G.; McMurry, Julie A.; Mihulova, Michaela; Millett, Caitlin E.; Mitchell, Philip B.; Moslerova, Veronika; Narutomi, Kenji; Nematollahi, Shahrzad; Nevado, Julian; Nierenberg, Andrew A.; Cajbikova, Nikola Novak; Nurnberger, John I., Jr.; Ogishima, Soichi; Olson, Daniel; Ortiz, Abigail; Pachajoa, Harry; Perez de Nanclares, Guiomar; Peters, Amy; Putman, Tim; Rapp, Christina K.; Rath, Ana; Reese, Justin; Rekerle, Lauren; Roberts, Angharad M.; Roy, Suzy; Sanders, Stephan J.; Schuetz, Catharina; Schulte, Eva C.; Schulze, Thomas G.; Schwarz, Martin; Scott, Katie; Seelow, Dominik; Seitz, Berthold; Shen, Yiping; Similuk, Morgan N.; Simon, Eric S.; Singh, Balwinder; Smedley, Damian; Smith, Cynthia L.; Smolinsky, Jake T.; Sperry, Sarah; Stafford, Elizabeth; Stefancsik, Ray; Steinhaus, Robin; Strawbridge, Rebecca; Sundaramurthi, Jagadish Chandrabose; Talapova, Polina; Tenorio Castano, Jair A.; Tesner, Pavel; Thomas, Rhys H.; Thurm, Audrey; Turnovec, Marek; van Gijn, Marielle E.; Vasilevsky, Nicole A.; Vlckova, Marketa; Walden, Anita; Wang, Kai; Wapner, Ron; Ware, James S.; Wiafe, Addo A.; Wiafe, Samuel A.; Wiggins, Lisa D.; Williams, Andrew E.; Wu, Chen; Wyrwoll, Margot J.; Xiong, Hui; Yalin, Nefize; Yamamoto, Yasunori; Yatham, Lakshmi N.; Yocum, Anastasia K.; Young, Allan H.; Yueksel, Zafer; Zandi, Peter P.; Zankl, Andreas; Zarante, Ignacio; Zvolsky, Miroslav; Toro, Sabrina; Carmody, Leigh C.; Harris, Nomi L.; Munoz-Torres, Monica C.; Danis, Daniel; Mungall, Christopher J.; Koehler, Sebastian; Haendel, Melissa A.; Robinson, Peter N.
Identification of potential non-invasive biomarkers in diastrophic dysplasia
BONE
IF3.6
2023-10-010
OAAI
Paganini, Chiara; Carroll, Ricki S.; Tota, Chiara Gramegna; Schelhaas, Andrea J.; Leone, Alessandra; Duker, Angela L.; O'Connell, David A.; Coghlan, Ryan F.; Johnstone, Brian; Ferreira, Carlos R.; Peressini, Sabrina; Albertini, Riccardo; Forlino, Antonella; Bonafe, Luisa; Campos-Xavier, Ana Belinda; Superti-Furga, Andrea; Zankl, Andreas; Rossi, Antonio; Bober, Michael B.
Defective DNA Polymerase α-Primase Leads to X-Linked Intellectual Disability Associated with Severe Growth Retardation, Microcephaly, and Hypogonadism
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2019-05-0134
OAAI
Van Esch, Hilde; Colnaghi, Rita; Freson, Kathleen; Starokadomskyy, Petro; Zankl, Andreas; Backx, Liesbeth; Abramowicz, Iga; Outwin, Emily; Rohena, Luis; Faulkner, Claire; Leong, Gary M.; Newbury-Ecob, Ruth A.; Challis, Rachel C.; Ounap, Katrin; Jaeken, Jacques; Seuntjens, Eve; Devriendt, Koen; Burstein, Ezra; Low, Karen J.; O'Driscoll, Mark
Initiating an undiagnosed diseases program in the Western Australian public health system
ORPHANET JOURNAL OF RARE DISEASES
IF3.5
2017-05-0329
OAAI
Baynam, Gareth; Broley, Stephanie; Bauskis, Alicia; Pachter, Nicholas; McKenzie, Fiona; Townshend, Sharron; Slee, Jennie; Kiraly-Borri, Cathy; Vasudevan, Anand; Hawkins, Anne; Schofield, Lyn; Helmholz, Petra; Palmer, Richard; Kung, Stefanie; Walker, Caroline E.; Molster, Caron; Lewis, Barry; Mina, Kym; Beilby, John; Pathak, Gargi; Poulton, Cathryn; Groza, Tudor; Zankl, Andreas; Roscioli, Tony; Dinger, Marcel E.; Mattick, John S.; Gahl, William; Groft, Stephen; Tifft, Cynthia; Taruscio, Domenica; Lasko, Paul; Kosaki, Kenjiro; Wilhelm, Helene; Melegh, Bela; Carapetis, Jonathan; Jana, Sayanta; Chaney, Gervase; Johns, Allison; Owen, Peter Wynn; Daly, Frank; Weeramanthri, Tarun; Dawkins, Hugh; Goldblatt, Jack
The Human Phenotype Ontology in 2017
NUCLEIC ACIDS RESEARCH
IF13.1
2016-11-28569
OAAI
Koehler, Sebastian; Vasilevsky, Nicole A.; Engelstad, Mark; Foster, Erin; McMurry, Julie; Ayme, Segolene; Baynam, Gareth; Bello, Susan M.; Boerkoel, Cornelius F.; Boycott, Kym M.; Brudno, Michael; Buske, Orion J.; Chinnery, Patrick F.; Cipriani, Valentina; Connell, Laureen E.; Dawkins, Hugh J. S.; DeMare, Laura E.; Devereau, Andrew D.; de Vries, Bert B. A.; Firth, Helen V.; Freson, Kathleen; Greene, Daniel; Hamosh, Ada; Helbig, Ingo; Hum, Courtney; Jahn, Johaenna A.; James, Roger; Krause, Roland; Laulederkind, Stanley J. F.; Lochmuller, Hanns; Lyon, Gholson J.; Ogishima, Soichi; Olry, Annie; Ouwehand, Willem H.; Pontikos, Nikolas; Rath, Ana; Schaefer, Franz; Scott, Richard H.; Segal, Michael; Sergouniotis, Panagiotis I.; Sever, Richard; Smith, Cynthia L.; Straub, Volker; Thompson, Rachel; Turner, Catherine; Turro, Ernest; Veltman, Marijcke W. M.; Vulliamy, Tom; Yu, Jing; von Ziegenweidt, Julie; Zankl, Andreas; Zuchner, Stephan; Zemojtel, Tomasz; Jacobsen, Julius O. B.; Groza, Tudor; Smedley, Damian; Mungall, Christopher J.; Haendel, Melissa; Robinson, Peter N.
The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2015-07-01165
OAAI
Groza, Tudor; Koehler, Sebastian; Moldenhauer, Dawid; Vasilevsky, Nicole; Baynam, Gareth; Zemojtel, Tomasz; Schriml, Lynn Marie; Kibbe, Warren Alden; Schofield, Paul N.; Beck, Tim; Vasant, Drashtti; Brookes, Anthony J.; Zankl, Andreas; Washington, Nicole L.; Mungall, Christopher J.; Lewis, Suzanna E.; Haendel, Melissa A.; Parkinson, Helen; Robinson, Peter N.
Multicentric Carpotarsal Osteolysis Is Caused by Mutations Clustering in the Amino-Terminal Transcriptional Activation Domain of MAFB (vol 90, pg 494, 2012)
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2014-04-013
OAAI
Zankl, Andreas; Duncan, Emma L.; Leo, Paul J.; Clark, Graeme R.; Glazov, Evgeny A.; Addor, Marie-Claude; Herlin, Troels; Kim, Chong Ae; Leheup, Bruno P.; McGill, Jim; McTaggart, Steven; Mittas, Stephen; Mitchell, Anna L.; Mortier, Geert R.; Robertson, Stephen P.; Schroeder, Marie; Terhal, Paulien; Brown, Matthew A.
Expanding the Mutational Spectrum of CRLF1 in Crisponi/CISS1 Syndrome
HUMAN MUTATION
IF3.7
2014-03-0624
OAAI
Piras, Roberta; Chiappe, Francesca; La Torraca, Ilaria; Buers, Insa; Usala, Gianluca; Angius, Andrea; Akin, Mustafa Ali; Basel-Vanagaite, Lina; Benedicenti, Francesco; Chiodin, Elisabetta; El Assy, Osama; Feingold-Zadok, Michal; Guibert, Javier; Kamien, Benjamin; Kasapkara, Cigdem Seher; Kilic, Esra; Boduroglu, Koray; Kurtoglu, Selim; Manzur, Adnan Y.; Onal, Eray Esra; Paderi, Enrica; Herrero Roche, Carmen; Tumer, Leyla; Unal, Sezin; Utine, Guelen Eda; Zanda, Giovanni; Zankl, Andreas; Zampino, Giuseppe; Crisponi, Giangiorgio; Crisponi, Laura; Rutsch, Frank
Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2013-11-01194
OAAI
Halbritter, Jan; Bizet, Albane A.; Schmidts, Miriam; Porath, Jonathan D.; Braun, Daniela A.; Gee, Heon Yung; McInerney-Leo, Aideen M.; Krug, Pauline; Filhol, Emilie; Davis, Erica E.; Airik, Rannar; Czarnecki, Peter G.; Lehman, Anna M.; Trnka, Peter; Nitschke, Patrick; Bole-Feysot, Christine; Schueler, Markus; Knebelmann, Bertrand; Burtey, Stephane; Szabo, Attila J.; Tory, Kalman; Leo, Paul J.; Gardiner, Brooke; McKenzie, Fiona A.; Zankl, Andreas; Brown, Matthew A.; Hartley, Jane L.; Maher, Eamonn R.; Li, Chunmei; Leroux, Michel R.; Scambler, Peter J.; Zhan, Shing H.; Jones, Steven J.; Kayserili, Hulya; Tuysuz, Beyhan; Moorani, Khemchand N.; Constantinescu, Alexandru; Krantz, Ian D.; Kaplan, Bernard S.; Shah, Jagesh V.; Hurd, Toby W.; Doherty, Dan; Katsanis, Nicholas; Duncan, Emma L.; Otto, Edgar A.; Beales, Philip L.; Mitchison, Hannah M.; Saunier, Sophie; Hildebrandt, Friedhelm
Mutations in the Gene Encoding IFT Dynein Complex Component WDR34 Cause Jeune Asphyxiating Thoracic Dystrophy
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2013-11-0191
OAAI
Schmidts, Miriam; Vodopiutz, Julia; Christou-Savina, Sonia; Cortes, Claudio R.; McInerney-Leo, Aideen M.; Emes, Richard D.; Arts, Heleen H.; Tuysuz, Beyhan; D'Silva, Jason; Leo, Paul J.; Giles, Tom C.; Oud, Machteld M.; Harris, Jessica A.; Koopmans, Marije; Marshall, Mhairi; Elcioglu, Nursel; Kuechler, Alma; Bockenhauer, Detlef; Moore, Anthony T.; Wilson, Louise C.; Janecke, Andreas R.; Hurles, Matthew E.; Emmet, Warren; Gardiner, Brooke; Streubel, Berthold; Dopita, Belinda; Zankl, Andreas; Kayserili, Hulya; Scambler, Peter J.; Brown, Matthew A.; Beales, Philip L.; Wicking, Carol; Duncan, Emma L.; Mitchison, Hannah M.
Getting Ready for the Human Phenome Project: The 2012 Forum of the Human Variome Project
HUMAN MUTATION
IF3.7
2013-02-0118
OAAI
Oetting, William S.; Robinson, Peter N.; Greenblatt, Marc S.; Cotton, Richard G.; Beck, Tim; Carey, John C.; Doelken, Sandra C.; Girdea, Marta; Groza, Tudor; Hamilton, Carol M.; Hamosh, Ada; Kerner, Berit; MacArthur, Jacqueline A. L.; Maglott, Donna R.; Mons, Barend; Rehm, Heidi L.; Schofield, Paul N.; Searle, Beverly A.; Smedley, Damian; Smith, Cynthia L.; Bernstein, Inge Thomsen; Zankl, Andreas; Zhao, Eric Y.

研究方向

暂未获取到该数据
E
Emma L. Duncan
H 指数:56论文数:345被引数:1.6万
M
Matthew A. Brown
H 指数:144论文数:1,417被引数:14.0万
P
Paul Leo
H 指数:46论文数:233被引数:8,784
T
Tudor Groza
H 指数:34论文数:172被引数:8,620
A
Aideen McInerney‐Leo
H 指数:34论文数:173被引数:4,128
A
Andrea Superti‐Furga
H 指数:83论文数:732被引数:2.6万
L
Luisa Bonafé
H 指数:52论文数:232被引数:7,729
P
Peter N. Robinson
H 指数:90论文数:798被引数:3.4万
R
Ravi Savarirayan
H 指数:57论文数:622被引数:1.2万
G
Geert Mortier
H 指数:69论文数:927被引数:2.2万