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Naomi L. Baker

murdoch childrens research institute

25H-index
61Paper Count
1.8KCitation Count
Published Papers 17
Publication Date
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Mainstreaming genomic testing for mitochondrial disease in Australia
errEuropean Journal of Human Genetics
IF4.6
err2026-02-26
err0
errOAAI
errMegan Ball; Naomi Baker; Sze Chern Lim; Sarah Casauria; Sebastian Lunke; Alison G. Compton; David R. Thorburn; John Christodoulou; Zornitza Stark
errShare
errSave
Variant interpretation training for the genomics era: Learning outcomes to inform professional competencies and education
errThe American Journal of Human Genetics
IF0
err2026-02-04
err0
PREAI
errAmy Nisselle; Douglas Liddicoat; Corrina Cliffe; Lyndon Gallacher; Melissa Martyn; Jan Hodgson; Naomi L. Baker; Victoria Beshay; Miriam Fanjul-Fernandez; Andrew P. Fellowes; Sebastian Lunke; Dean G. Phelan; Ain Roesley; Zornitza Stark; Tiong Yang Tan; Bryony Thompson; Clara L. Gaff; Natalie Thorne
errShare
errSave
Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function
errNature Genetics
IF29
err2025-10-22
err0
errOAAI
errReza Asadollahi; Aisha Ahmad; Paranchai Boonsawat; Jasmine Shahanoor Hinzen; Mareike Lohse; Boris Bouazza-Arostegui; Siqi Sun; Tillmann Utesch; Jonas D. Sommer; Dragana Ilic; Murugesh Padmanarayana; Kati Fischermanns; Mrinalini Ranjan; Moritz Boll; Chandran Ka; Amélie Piton; Francesca Mattioli; Bertrand Isidor; Katrin Õunap; Karit Reinson; Monica H. Wojcik; Christian R. Marshall; Saadet Mercimek-Andrews; Naomichi Matsumoto; Noriko Miyake; Bruno de Oliveira Stephan; Rachel Sayuri Honjo; Debora R. Bertola; Chong Ae Kim; Roman Yusupov; Heather C. Mefford; John Christodoulou; Joy Lee; Oliver Heath; Natasha J. Brown; Naomi Baker; Zornitza Stark; Martin Delatycki; Nicole J. Lake; Shimriet Zeidler; Linda Zuurbier; Saskia M. Maas; Chris C. de Kruiff; Farrah Rajabi; Lance H. Rodan; Stephanie A. Coury; Konrad Platzer; Henry Oppermann; Rami Abou Jamra; Skadi Beblo; Caroline Maxton; Robert Śmigiel; Hunter Underhill; Holly Dubbs; Alyssa Rosen; Katherine L. Helbig; Ingo Helbig; Sarah McKeown Ruggiero; Mark P. Fitzgerald; Dennis Kraemer; Carlos E. Prada; Jeffrey Tenney; Parul Jayakar; Sylvia Redon; Jérémie Lefranc; Kevin Uguen; Simone Race; Stephanie Efthymiou; Reza Maroofian; Henry Houlden; Sandra Coppens; Nicolas Deconinck; Balasubramaniem Ashokkumar; Perumal Varalakshmi; Vykunta Raju Gowda K; Fatemeh Eghbal; Ehsan Ghayoor Karimiani; Morteza Heidari; John Neidhardt; Marta Owczarek-Lipska; G. Christoph Korenke; Michael J. Bamshad; Philippe M. Campeau; Anna Lehman; Laura G. Hendon; Ingrid M. Wentzensen; Kristin G. Monaghan; Yanmin Chen; Anna Szuto; Ronald D. Cohn; Ping Yee Billie Au; Christoph Hübner; Felix Boschann; Kandamurugu Manickam; Daniel C. Koboldt; Aboulfazl Rad; Gabriela Oprea; Kristine K. Bachman; Andrea H. Seeley; Emanuele Agolini; Alessandra Terracciano; Piscopo Carmelo; Caleb Bupp; Bethany Grysko; Annick Rein-Rothschild; Bruria Ben Zeev; Amy Margolin; Jennifer Morrison; Aditi Dagli; Elliot Stolerman; Raymond J. Louie; Camerun Washington; Servi J. C. Stevens; Malou Heijligers; Fowzan S. Alkuraya; Jasmin Lisfeld; Axel Neu; Fabíola Paoli Monteiro; André Luiz Santos Pessoa; Antonio Edvan Camelo-Filho; Fernando Kok; Dwight Koeberl; Kacie Riley; Lydie Burglen; Diane Doummar; Bénédicte Héron; Cyril Mignot; Boris Keren; Perrine Charles; Caroline Nava; Felix P. Bernhard; Andrea A. Kühn; Sven Thoms; Ryan D. Morrie; Shila Mekhoubad; Eric M. Green; Sami J. Barmada; Aaron D. Gitler; Olaf Jahn; Jeong Seop Rhee; Christian Rosenmund; Mišo Mitkovski; Heinrich Sticht; Han Sun; Gerald Le Gac; Holger Taschenberger; Nils Brose; Jeremy S. Dittman; Anita Rauch; Noa Lipstein
errShare
errSave
Diagnostic utility of exome sequencing followed by research reanalysis in human brain malformations
errBRAIN COMMUNICATIONS
IF4.5
err2024-02-28
err0
errOAAI
errKooshavar, Daniz; Amor, David J.; Boggs, Kirsten; Baker, Naomi; Barnett, Christopher; de Silva, Michelle G.; Edwards, Samantha; Fahey, Michael C.; Marum, Justine E.; Snell, Penny; Bozaoglu, Kiymet; Pope, Kate; Mohammad, Shekeeb S.; Riney, Kate; Sachdev, Rani; Scheffer, Ingrid E.; Schenscher, Sarah; Silberstein, John; Smith, Nicholas; Tom, Melanie; Ware, Tyson L.; Lockhart, Paul J.; Leventer, Richard J.
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errSave
Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation
errAMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
err2022-11-01
err13
errOAAI
errTudini, 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.
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errSave
Exome sequencing for patients with developmental and epileptic encephalopathies in clinical practice
errDEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
IF4.3
err2022-06-14
err21
errOAAI
errScheffer, Ingrid E.; Bennett, Caitlin A.; Gill, Deepak; de Silva, Michelle G.; Boggs, Kirsten; Marum, Justine; Baker, Naomi; Palmer, Elizabeth E.; Howell, Katherine B.
errShare
errSave
Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 Deletions
errAMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
err2017-12-01
err41
errOAAI
errTiong Yang Tan; Gonzaga-Jauregui, Claudia; Bhoj, Elizabeth J.; Strauss, Kevin A.; Brigatti, Karlla; Puffenberger, Erik; Li, Dong; Xie, LiQin; Das, Nanditha; Skubas, Ioanna; Deckelbaum, Ron A.; Hughes, Virginia; Brydges, Susannah; Hatsell, Sarah; Siao, Chia-Jen; Dominguez, Melissa G.; Economides, Aris; Overton, John D.; Mayne, Valerie; Simm, Peter J.; Jones, Bryn O.; Eggers, Stefanie; Le Guyader, Gwenael; Pelluard, Fanny; Haack, Tobias B.; Sturm, Marc; Riess, Angelika; Waldmueller, Stephan; Hofbeck, Michael; Steindl, Katharina; Joset, Pascal; Rauch, Anita; Hakonarson, Hakon; Baker, Naomi L.; Farlie, Peter G.
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errSave
Co-option of the cardiac transcription factor Nkx2.5 during development of the emu wing
errNATURE COMMUNICATIONS
IF15.7
err2017-07-25
err21
errOAAI
errFarlie, Peter G.; Davidson, Nadia M.; Baker, Naomi L.; Raabus, Mai; Roeszler, Kelly N.; Hirst, Claire; Major, Andrew; Mariette, Mylene M.; Lambert, David M.; Oshlack, Alicia; Smith, Craig A.
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errSave
Increasing Progesterone Levels Are Associated With Smoking Abstinence Among Free-Cycling Women Smokers Who Receive Brief Pharmacotherapy
errNICOTINE & TOBACCO RESEARCH
IF3
err2015-03-11
err51
errOAAI
errSaladin, Michael E.; McClure, Erin A.; Baker, Nathaniel L.; Carpenter, Matthew J.; Ramakrishnan, Viswanathan; Hartwell, Karen J.; Gray, Kevin M.
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errSave
The Collagenopathies: Review of Clinical Phenotypes and Molecular Correlations
errCURRENT RHEUMATOLOGY REPORTS
IF3.9
err2013-12-13
err51
PREAI
errJobling, Rebekah; D'Souza, Rohan; Baker, Naomi; Lara-Corrales, Irene; Mendoza-Londono, Roberto; Dupuis, Lucie; Savarirayan, Ravi; Ala-Kokko, L.; Kannu, Peter
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errSave
Collagen VI Microfibril Formation Is Abolished by an α2(VI) von Willebrand Factor Type A Domain Mutation in a Patient with Ullrich Congenital Muscular Dystrophy
errJOURNAL OF BIOLOGICAL CHEMISTRY
IF3.9
err2010-10-01
err17
errOAAI
errTooley, Leona D.; Zamurs, Laura K.; Beecher, Nicola; Baker, Naomi L.; Peat, Rachel A.; Adams, Naomi E.; Bateman, John F.; North, Kathryn N.; Baldock, Clair; Lamande, Shireen R.
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errSave
Reduction of Lysyl Hydroxylase 3 Causes Deleterious Changes in the Deposition and Organization of Extracellular Matrix
errJOURNAL OF BIOLOGICAL CHEMISTRY
IF3.9
err2009-10-01
err47
errOAAI
errRisteli, Maija; Ruotsalainen, Heli; Salo, Antti M.; Sormunen, Raija; Sipila, Laura; Baker, Naomi L.; Lamande, Shireen R.; Vimpari-Kauppinen, Leena; Myllyla, Raili
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errSave
Collagen VI glycine mutations:: Perturbed assembly and a spectrum of clinical severity
errANNALS OF NEUROLOGY
IF7.7
err2008-09-29
err59
errOAAI
errPace, Rishika A.; Peat, Rachel A.; Baker, Naomi L.; Zamurs, Laura; Moergelin, Matthias; Irving, Melita; Adams, Naomi E.; Bateman, John F.; Mowat, David; Smith, Nicholas J. C.; Lamont, Phillipa J.; Moore, Steven A.; Mathews, Katherine D.; North, Kathryn N.; Lamande, Shireen R.
errShare
errSave
Diagnosis and etiology of congenital muscular dystrophy
errNEUROLOGY
IF8.5
err2008-07-29
err69
PREAI
errPeat, R. A.; Smith, J. M.; Compton, A. G.; Baker, N. L.; Pace, R. A.; Burkin, D. J.; Kaufman, S. J.; Lamande, S. R.; North, K. N.
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errSave
Secretion and assembly of type IV and VI collagens depend on glycosylation of hydroxylysines
errJOURNAL OF BIOLOGICAL CHEMISTRY
IF3.9
err2007-11-01
err88
errOAAI
errSipilae, Laura; Ruotsalainen, Heli; Sormunen, Raija; Baker, Naomi L.; Lamande, Shireen R.; Vapola, Miia; Wang, Chunguang; Sado, Yoshikazu; Aszodi, Attila; Myllylae, Raili
errShare
errSave
Molecular consequences of dominant Bethlem myopathy collagen VI mutations
errANNALS OF NEUROLOGY
IF7.7
err2007-10-29
err59
errOAAI
errBaker, Naomi L.; Morgelin, Matthias; Pace, Rishika A.; Peat, Rachel A.; Adams, Naomi E.; Gardner, R. J. McKinlay; Rowland, Lewis P.; Miller, Geoffrey; De Jonghe, Peter; Ceulemans, Berten; Hannibal, Mark C.; Edwards, Matthew; Thompson, Elizabeth M.; Jacobson, Richard; Quinlivan, Ros C. M.; Aftimos, Salim; Kornberg, Andrew J.; North, Kathryn N.; Bateman, John F.; Lamande, Shireen R.
errShare
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Growth hormone receptor abundance in tibial growth plates of uremic rats: GH/IGF-I treatment
errKIDNEY INTERNATIONAL
IF12.6
err2000-07-01
err33
errOAAI
errEdmondson, SR; Baker, NL; Oh, J; Kovacs, G; Werther, GA; Mehls, O
errShare
errSave

Research Directions

No research directions
Co-authors
Cooperation Journals
H
Håkon Håkonarson
H-index: 177 · Papers: 1.5K
I
Ingrid E. Scheffer
H-index: 141 · Papers: 1.0K
H
Henry Houlden
H-index: 120 · Papers: 1.5K
N
Nils Brose
H-index: 103 · Papers: 407
P
Peter De Jonghe
H-index: 101 · Papers: 823
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