J. Crawford

发表

SNORD-host RNA Zfas1 is a regulator of mammary development and a potential marker for breast cancer.

J. Mattick, A. Vargas, S. Lakhani, 2011, RNA.

Targeted RNA sequencing reveals the deep complexity of the human transcriptome

Cole Trapnell, J. Rinn, J. Mattick, 2011, Nature Biotechnology.

Quantitative gene profiling of long noncoding RNAs with targeted RNA sequencing

Anton J. Enright, A. Enright, J. Mattick, 2015, Nature Methods.

Intergenic disease-associated regions are abundant in novel transcripts

J. Mattick, R. Taft, A. Pritchard, 2017, Genome Biology.

Genotype-free demultiplexing of pooled single-cell RNA-seq

L. Coin, G. Montgomery, J. Powell, 2019, Genome Biology.

Genotype-free demultiplexing of pooled single-cell RNA-seq

L. Coin, G. Montgomery, J. Powell, 2019, Genome Biology.

The Human Mitochondrial Transcriptome

Tim R. Mercer, Shane J. Neph, John A. Stamatoyannopoulos, 2011, Cell.

Whole exome sequencing in patients with white matter abnormalities

A. Vanderver, R. Schiffmann, S. Grimmond, 2016, Annals of neurology.

Transcription initiation RNAs are associated with chromatin activation mark H3K4me3

J. Mattick, R. Taft, Kelin Ru, 2018, bioRxiv.

Genome sequencing in persistently unsolved white matter disorders

Vladimir G. Gainullin, E. Bertini, A. Vanderver, 2020, Annals of clinical and translational neurology.

Heterozygous Variants in the Mechanosensitive Ion Channel TMEM63A Result in Transient Hypomyelination during Infancy.

L. D. de Vries, A. Patapoutian, R. Taft, 2019, American journal of human genetics.

Heterozygous variants in the mechanosensitive ion channel TMEM63A result in transient hypomyelination during infancy

L. D. de Vries, A. Patapoutian, R. Taft, 2019, bioRxiv.

Improved definition of the mouse transcriptome via targeted RNA sequencing

Anton J. Enright, A. Enright, J. Mattick, 2016, Genome research.

De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia.

Matthew H. Brush, Gabor T. Marth, John Arul Phillips, 2019, American journal of human genetics.

Patient-iPSC-Derived Kidney Organoids Show Functional Validation of a Ciliopathic Renal Phenotype and Reveal Underlying Pathogenetic Mechanisms.

A. Oshlack, S. Howden, B. Phipson, 2018, American journal of human genetics.

Adult-Diagnosed Nonsyndromic Nephronophthisis in Australian Families Caused by Biallelic NPHP4 Variants.

P. Snelling, K. Holman, J. Crawford, 2019, American journal of kidney diseases : the official journal of the National Kidney Foundation.

Loss-of-function alanyl-tRNA synthetase mutations cause an autosomal-recessive early-onset epileptic encephalopathy with persistent myelination defect.

A. Vanderver, R. Taft, J. Schreiber, 2015, American journal of human genetics.

Spatially Resolved Transcriptomes of Mammalian Kidneys Illustrate the Molecular Complexity and Interactions of Functional Nephron Segments

S. Andersen, N. Matigian, Q. Nguyen, 2022, Frontiers in Medicine.

X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1

S. Humphray, Z. Kingsbury, A. Vanderver, 2017, neurogenetics.

Altered differentiation of endometrial mesenchymal stromal fibroblasts is associated with endometriosis susceptibility

G. Montgomery, S. Lukowski, J. Crawford, 2021, Communications Biology.

Spatially resolved transcriptome profiles of mammalian kidneys illustrate the molecular complexity of functional nephron segments, cell-to-cell interactions and genetic variants

S. Andersen, Q. Nguyen, J. Crawford, 2020, bioRxiv.

The Evx1/Evx1as gene locus regulates anterior-posterior patterning during gastrulation

Michael R. Tallack, Paulo P. Amaral, J. Mattick, 2016, Scientific Reports.

Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy

S. Grimmond, R. Taft, A. Verloes, 2015, Nature Genetics.

Spatial transcriptomic analysis of Sonic Hedgehog Medulloblastoma identifies that the loss of heterogeneity and promotion of differentiation underlies the response to CDK4/6 inhibition

Dharmesh D. Bhuva, Melissa J. Davis, Q. Nguyen, 2023, bioRxiv.

Universal alternative splicing of noncoding exons

Ira W. Deveson, Tyson A. Clark, J. Mattick, 2017, bioRxiv.

The melanoma-upregulated long noncoding RNA SPRY4-IT1 modulates apoptosis and invasion.

J. Mattick, M. Dinger, J. Crawford, 2011, Cancer research.

Genome-wide discovery of human splicing branchpoints

Wilfried Haerty, Marcel E Dinger, John S Mattick, 2015, Genome research.

Targeted sequencing for gene discovery and quantification using RNA CaptureSeq

Marcel E Dinger, John S Mattick, Michael B Clark, 2014, Nature Protocols.

Identification of miR-29b targets using 3-cyanovinylcarbazole containing mimics

R. Taft, Kelin Ru, J. Crawford, 2018, RNA.

Leukoencephalopathy due to variants in GFPT1-associated congenital myasthenic syndrome

R. Taft, J. Crawford, M. S. van der Knaap, 2019, Neurology.

Expanding the genotypic spectrum of CCBE1 mutations in Hennekam syndrome

R. Taft, J. Crawford, C. Simons, 2016, American journal of medical genetics. Part A.

Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticity.

P. Lockhart, A. Vanderver, S. Grimmond, 2013, American journal of human genetics.

X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1

S. Humphray, Z. Kingsbury, A. Vanderver, 2017, neurogenetics.

A de novo mutation in the β-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum.

L. Lagae, A. Vanderver, R. Schiffmann, 2013, American journal of human genetics.

Biallelic variants in LARS2 and KARS cause deafness and (ovario)leukodystrophy

R. Taft, Q. Waisfisz, R. Rodenburg, 2019, Neurology.

Modulates Apoptosis and Invasion SPRY 4-IT 1 Upregulated Long Noncoding RNA − The Melanoma

John S. Mattick, J. Mattick, J. Crawford, 2011 .

Long Noncoding RNAs CUPID1 and CUPID2 Mediate Breast Cancer Risk at 11q13 by Modulating the Response to DNA Damage.

N. Waddell, N. Cloonan, Shivangi Wani, 2017, American journal of human genetics.

Benchmarking robust spatial transcriptomics approaches to capture the molecular landscape and pathological architecture of archived cancer tissues

M. Stark, Q. Nguyen, J. Crawford, 2023, bioRxiv.

A recurrent de novo mutation in TMEM106B causes hypomyelinating leukodystrophy

R. Taft, Q. Waisfisz, J. Crawford, 2017, Brain : a journal of neurology.

Expression and Function of the Protein Tyrosine Phosphatase Receptor J (PTPRJ) in Normal Mammary Epithelial Cells and Breast Tumors

J. Mattick, A. Vargas, S. Lakhani, 2012, PloS one.

xArx 2 : An Aristaless Homolog That Regulates Brain Regionalization During Development in Xenopus laevis

J. Crawford, H. El-Hodiri, Michael, 2015 .

Correction: Corrigendum: Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy

S. Grimmond, R. Taft, A. Verloes, 2015, Nature Genetics.

Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy

S. Grimmond, R. Taft, A. Verloes, 2014, Nature Genetics.

De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia.

Michael F. Wangler, W. Chung, A. Fatemi, 2019, American journal of human genetics.

Ferritin: nanotechnology at the service of the new biomedicine

J. Mattick, M. Dinger, J. Crawford, 2011 .

Precision Medicine Diagnostics for Rare Kidney Disease: Twitter as a Tool in Clinical Genomic Translation

K. Holman, J. Crawford, A. Mallett, 2019, Kidney medicine.

Spatial transcriptomic analysis of Sonic hedgehog medulloblastoma identifies that the loss of heterogeneity and promotion of differentiation underlies the response to CDK4/6 inhibition

Dharmesh D. Bhuva, Melissa J. Davis, Q. Nguyen, 2023, Genome Medicine.