Martin Bruce Delatycki - Genetic Mutations

Author Information

Martin Bruce Delatycki is affiliated with the Victorian Clinical Genetics Services in Parkville, VIC, Australia. His research spans various areas within genetics, with a particular focus on genetic screening, diagnosis of genetic disorders, and the study of genetic variants and their implications.

Research Contributions

Martin Bruce Delatycki has made significant contributions to the field of genetics. His research includes a variety of topics such as reproductive genetic carrier screening, the diagnosis of genetic conditions like neonatal Bartter syndrome and cerebellar ataxia, and the study of heterozygous variants causing spinocerebellar ataxia. He has also investigated the detection of new germline pathogenic variants in pancreatic cancer screening and the responsiveness of gait and balance outcomes in Friedreich Ataxia. Additionally, his work covers auditory dysfunction in individuals with Neurofibromatosis Type 1 and genetic heterogeneity of polymicrogyria.

Aliases

Martin Bruce Delatycki is also known by several aliases including Martin Delatycki, M. Delatycki, M Delatycki, Martin B. Delatycki, M B Delatycki, and M. B. Delatycki.

Publication and Citation Metrics

Metric	Value
Citation Count	12,925
h-index	61
Paper Count	462

Publications:

Correspondence on "Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG)" by Gregg et al.

DOI: 10.1016/j.gim.2022.01.007

Year: 2022

Neonatal Bartter syndrome diagnosed by rapid genomics following low risk pre-conception carrier screening.

DOI: 10.1111/jpc.15955

Year: 2022

Federated Deep Learning for the Diagnosis of Cerebellar Ataxia: Privacy Preservation and Auto-Crafted Feature Extractor

DOI: 10.1109/TNSRE.2022.3161272

Year: 2022

Reproductive Genetic Carrier Screening and Inborn Errors of Metabolism: the voice of the IEM community needs to be heard.

DOI: 10.1002/jimd.12505

Year: 2022

Heterozygous PNPT1 variants cause spinocerebellar ataxia type 25.

DOI: 10.1002/ana.26366

Year: 2022

Significant detection of new germline pathogenic variants in Australian Pancreatic Cancer Screening Program participants

DOI: 10.1186/s13053-021-00190-1

Year: 2021

The Responsiveness of Gait and Balance Outcomes to Disease Progression in Friedreich Ataxia.

DOI: 10.1007/s12311-021-01348-2

Year: 2021

Auditory Dysfunction Among Individuals With Neurofibromatosis Type 1

DOI: 10.1001/jamanetworkopen.2021.36842

Year: 2021

Cancer Diagnoses Following Abnormal Noninvasive Prenatal Testing: A Case Series, Literature Review, and Proposed Management Model

DOI: 10.1200/PO.20.00429

Year: 2021

Genetic heterogeneity of polymicrogyria: study of 123 patients using deep sequencing

DOI: 10.1093/braincomms/fcaa221

Year: 2021

Can Immunotherapy Cause Genetic Mutations?

How Does Gene Amplification Occur?

How Do Genetic Mutations Affect Fertility?

What Ethical Considerations are Associated with Biotechnology in Genetics?

What is CRISPR Technology?

How Does Asbestos Lead to Genetic Mutations?

Can Mutagens Be Prevented?

What Are the Potential Consequences of Radiation-Induced Mutations?

Why is Studying Missense Mutations Important?

What Are the Ethical Implications of Genetic Testing?

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