Pachter Nicholas - Genetic Services of Western Australia, King Edward Memorial Hospital

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论文共 14 篇作者统计合作学者相似作者

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DNA mismatch repair gene variant classification: Evaluating detection of somatic mutations and mismatch repair deficient crypts/glands in colonic and endometrial tissue

R. Walker,K. Mahmood, J. Como,M. Clendenning,J. E. Joo,P. Georgeson,S. Joseland, S. G. Preston,R. Austin, J. Bojadzieva, A. Campbell,J. M. Chan,

JOURNAL OF GASTROENTEROLOGY AND HEPATOLOGY (2023): 27-28

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Lynch Syndrome-Associated Endometrial Carcinomas In Western Australia: Analysis Of Four Years Of Universal Screening By Mismatch Repair Protein Immunohistochemistry

S. Gupta,C. Nichols,J. Phillips,S. O'Sullivan,C. Ayres, G. Mohan,Y. Leung,C. Stewart,A. Tan,L. Schofield, C. Kiraly-Borri,N. Pachter,

INTERNATIONAL JOURNAL OF GYNECOLOGICAL CANCER（2021）

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Identification of candidate congenital heart defects biomarkers by applying a random forest approach on DNA methylation data

K. Yu, K.H. Lee,E. Afrifa-Yamoah,J. Guo,N. Pachter,K. Harrison,J. Goldblatt, J. Xiao, G. Zhang

World Academy of Science, Engineering and Technology, International Journal of Medical and Health Sc...（2021）

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HIGHLIGHTS ACROSS MYOLOGY: O.16 Results of a preconception carrier screening trial including severe neuromuscular disorders

S. Edwards,R. Ong,M. Davis,R. Allcock, G. Androga, B. Kamien, K. Harrop,G. Ravenscroft, M. Fietz,N. Pachter,J. Beilby,N. Laing

Neuromuscular Disorders (2020): S150

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Results of a preconception carrier screening trial including severe neuromuscular disorders

S. Edwards,R. Ong,M. Davis,R. Allcock, G. Androga, B. Kamien, K. Harrop,G. Ravenscroft, M. Fietz,N. Pachter,J. Beilby,N. Laing

NEUROMUSCULAR DISORDERS（2020）

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Highlights across myology

S. Edwards,R. Ong, M. Davis,R. Allcock, G. Androga, B. Kamien, K. Harrop,G. Ravenscroft, M. Fietz,N. Pachter,J. Beilby,N. Laing

Neuromuscular Disorders (2020)

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Functional characterisation of a novel PBX1 de novo missense variant identified in a patient with syndromic congenital heart disease

Dimuthu Alankarage,Justin O Szot,Nick Pachter,Anne Slavotinek,Licia Selleri,Joseph T Shieh,David Winlaw,Eleni Giannoulatou,Gavin Chapman,Sally L Dunwoodie

HUMAN MOLECULAR GENETICS（2020）

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Truncating Variants in the Desmoplakin Gene Cause a Distinct Arrhythmogenic Cardiomyopathy

C. Burns, E. Hoorntje,B. Corden,V. Parikh,T. Thompson, L. Marsili,B. Gray,C. Reuter,R. Bagnall, G. Correnti,J. Duflou,D. Fatkin,

Heart, Lung and Circulation（2019）

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Tricho-hepatic-enteric syndrome (THES) without intractable diarrhoea

C. Poulton, G. Pathak, K. Mina, T. Lassman, D.N. Azmanov,E. McCormack, S. Broley, L. Dreyer,D. Gration, E. Taylor, M. OSullivan, A. Siafarikis,

Gene（2019）

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Penetrance of Dilated Cardiomyopathy in Families with Truncating TTN Variants: a National Perspective

R. Johnson,S. Peters,J. Ingles, G. Correnti, A. Ingrey, H. Mountain,D. Zentner,T. Thompson,E. Oates,A. Ronan,N. Pachter,E. Haan,

Heart, Lung and Circulation（2019）

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