Publications by authors named "Andre Minoche"

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Quantitative ctDNA Detection in Hepatoblastoma: Implications for Precision Medicine.
Smadar Kahana-Edwin, James Torpy, Lucy E Cain, Anna Mullins, Geoffrey McCowage, Andre E Minoche

Cancers (Basel)· December 2023

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Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis.
Lisa J Ewans, Andre E Minoche, Deborah Schofield, Rupendra Shrestha, Clare Puttick

Eur J Hum Genet· October 2022

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Deep whole genome sequencing identifies recurrent genomic alterations in commonly used breast cancer cell lines and patient-derived xenograft models.
Niantao Deng, Andre Minoche, Kate Harvey, Meng Li, Juliane Winkler

Breast Cancer Res· September 2022

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Use of Whole-Genome Sequencing for Mitochondrial Disease Diagnosis.
Ryan L Davis, Kishore R Kumar, Clare Puttick, Christina Liang, Kate E Ahmad, Andre E Minoche

Neurology· August 2022

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The Australian dingo is an early offshoot of modern breed dogs.
Matt A Field, Sonu Yadav, Olga Dudchenko, Meera Esvaran, Benjamin D Rosen, Andre E Minoche

Sci Adv· April 2022

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Whole Genome Sequencing, Focused Assays and Functional Studies Increasing Understanding in Cryptic Inherited Retinal Dystrophies.
Benjamin M Nash, Alan Ma, Gladys Ho, Elizabeth Farnsworth, Andre E Minoche

Int J Mol Sci· March 2022

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Genome sequencing in congenital cataracts improves diagnostic yield.
Alan Ma, John R Grigg, Maree Flaherty, James Smith, Andre E Minoche

Hum Mutat· September 2021

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Assembly and characterization of the genome of chard (Beta vulgaris ssp. vulgaris var. cicla).
Reinhard Lehner, Lisa Blazek, André E Minoche, Juliane C Dohm, Heinz Himmelbauer

J Biotechnol· June 2021

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Genomic diagnostics in polycystic kidney disease: an assessment of real-world use of whole-genome sequencing.
Amali C Mallawaarachchi, Ben Lundie, Yvonne Hort, Nicole Schonrock, Sarah R Senum, Andre E Minoche

Eur J Hum Genet· May 2021

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Application of Genome Sequencing from Blood to Diagnose Mitochondrial Diseases.
Rocio Rius, Alison G Compton, Naomi L Baker, AnneMarie E Welch, David Coman, Andre E Minoche

Genes (Basel)· April 2021

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Diagnostic Yield of Whole Genome Sequencing After Nondiagnostic Exome Sequencing or Gene Panel in Developmental and Epileptic Encephalopathies.
Elizabeth Emma Palmer, Rani Sachdev, Rebecca Macintosh, Uirá Souto Melo, Stefan Mundlos, Andre E Minoche

Neurology· March 2021

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ClinSV: clinical grade structural and copy number variant detection from whole genome sequencing data.
Andre E Minoche, Ben Lundie, Greg B Peters, Thomas Ohnesorg, Mark Pinese

Genome Med· February 2021

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Fatal perinatal mitochondrial cardiac failure caused by recurrent duplications in the locus.
Ann E Frazier, Alison G Compton, Yoshihito Kishita, Daniella H Hock, AnneMarie E Welch, André E Minoche

Med· January 2021

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RLIM Is a Candidate Dosage-Sensitive Gene for Individuals with Varying Duplications of Xq13, Intellectual Disability, and Distinct Facial Features.
Elizabeth E Palmer, Renee Carroll, Marie Shaw, Raman Kumar, Andre E Minoche

Am J Hum Genet· December 2020

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Revealing hidden genetic diagnoses in the ocular anterior segment disorders.
Alan Ma, Saira Yousoof, John R Grigg, Maree Flaherty, Andre E Minoche

Genet Med· October 2020

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The genome of Ectocarpus subulatus - A highly stress-tolerant brown alga.
Simon M Dittami, Erwan Corre, Loraine Brillet-Guéguen, Agnieszka P Lipinska, Noé Pontoizeau, André E Minoche

Mar Genomics· August 2020

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The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease.
Lisa G Riley, Mark J Cowley, Velimir Gayevskiy, Andre E Minoche, Clare Puttick

Genet Med· July 2020

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Canfam_GSD: De novo chromosome-length genome assembly of the German Shepherd Dog (Canis lupus familiaris) using a combination of long reads, optical mapping, and Hi-C.
Matt A Field, Benjamin D Rosen, Olga Dudchenko, Eva K F Chan, Andre E Minoche

Gigascience· April 2020

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Whole genome sequencing for the genetic diagnosis of heterogenous dystonia phenotypes.
Kishore R Kumar, Ryan L Davis, Michel C Tchan, G M Wali, Neil Mahant, Andre E Minoche

Parkinsonism Relat Disord· December 2019

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Genomes of the wild beets Beta patula and Beta vulgaris ssp. maritima.
Álvaro Rodríguez Del Río, André E Minoche, Nikolaus F Zwickl, Anja Friedrich, Susan Liedtke

Plant J· September 2019

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Increased Diagnostic Yield of Spastic Paraplegia with or Without Cerebellar Ataxia Through Whole-Genome Sequencing.
Aryun Kim, Kishore R Kumar, Ryan L Davis, Amali C Mallawaarachchi, Velimir Gayevskiy, Andre E Minoche

Cerebellum· August 2019

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Response to Brodehl et al.
Andre E Minoche, Claire Horvat, Renee Johnson, Velimir Gayevskiy, Sarah U Morton

Genet Med· May 2019

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De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-progressive Neurocognitive Syndrome.
Elizabeth E Palmer, Seungbeom Hong, Fatema Al Zahrani, Mais O Hashem, Fajr A Aleisa, Andre E Minoche

Am J Hum Genet· April 2019

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De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome.
Elizabeth E Palmer, Seungbeom Hong, Fatema Al Zahrani, Mais O Hashem, Fajr A Aleisa, Andre E Minoche

Am J Hum Genet· March 2019

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Expanding the spectrum of mutations and novel insights into disease mechanisms.
Kishore R Kumar, Gautam Wali, Ryan L Davis, Amali C Mallawaarachchi, Elizabeth E Palmer, Andre E Minoche

Mol Genet Metab Rep· September 2018

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