Martin B. Delatycki - Concepedia

Author

Martin B. Delatycki

Murdoch Children's Research Institute ORCID

Also Known As

Andreas Deistung, Anna De Fazio, Corrina Cliffe, Delatycki, Martin B, Delatycki, Martin B., M B Delatycki, M Delatycki, M. B. Delatycki, M. Delatycki, M.B. Delatycki

524

Publications

17.6K

Citations

H-Index

312

Concepts

All Affiliations

Murdoch Children's Research Institute The University of Melbourne Royal Children's Hospital Victorian Clinical Genetics Services Monash University

About

Martin B. Delatycki is an author at Murdoch Children's Research Institute specializing in medicine, neurology, and genetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Health Sciences	14	16	515
2	Arts	5	5	186
3	Education	5	5	131
4	Language Studies	4	4	208
5	Engineering	1	1	11

Martin B. Delatycki

244

Publications

13.7K

Citations

H-Index

Page 1

	Year	Citations
Iron-Overload–Related Disease in<i>HFE</i>Hereditary Hemochromatosis Katrina J. Allen, Lyle C. Gurrin, Clare C. Constantine, New England Journal of Medicine	2008	716
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases Holly A.F. Stessman, Bo Xiong, Bradley P. Coe, Nature Genetics Neurodevelopmental DisordersSyndromic AutismGeneticsPsychiatric GeneticsAutism	2017	558
C-terminal truncations in human 3′-5′ DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy Anna Richards, Arn M. J. M. van den Maagdenberg, Joanna C. Jen, Nature Genetics Ocular DiseaseC-terminal TruncationsRetinaOphthalmologyGenetic Disorder	2007	444
Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS Haloom Rafehi, David J. Szmulewicz, Mark F. Bennett, The American Journal of Human Genetics	2019	276
Safety and Efficacy of Omaveloxolone in Friedreich Ataxia (<scp>MOXIe</scp> Study) David R. Lynch, Melanie Chin, Martin B. Delatycki, Annals of Neurology	2020	273
Mutations in RAB39B Cause X-Linked Intellectual Disability and Early-Onset Parkinson Disease with α-Synuclein Pathology Gabrielle R. Wilson, Joe C.H. Sim, Catriona McLean, The American Journal of Human Genetics Neurodegenerative DiseasesGenetic DisorderGeneticsDegenerative DiseaseDegenerative Pathology	2014	268
Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features Davor Lessel, Bruno Vaz, Swagata Halder, Nature Genetics HepatologyMedicineGeneticsPathologyCancer Genomics	2014	241
Mutations in PHF6 are associated with Börjeson–Forssman –Lehmann syndrome Karen M. Lower, Gillian Turner, Bronwyn Kerr, Nature Genetics Börjeson–forssman –Lehmann SyndromeMendelian DisorderGenetic DisorderMedicineGenetics	2002	214
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders Tianyun Wang, Kendra Hoekzema, Davide Vecchio, Nature Communications GeneticsMost GenesDisease Gene IdentificationGenomicsNdd Cases	2020	204
Direct evidence that mitochondrial iron accumulation occurs in Friedreich ataxia Martin B. Delatycki, James Camakaris, Hilary Brooks, Annals of Neurology MitophagySystems BiologyMitochondrial FunctionGeneticsPhysiology	1999	176

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