J. Nadaf

发表

Whole-exome sequencing as a diagnostic tool: current challenges and future opportunities

M. Tétreault, E. Bareke, J. Nadaf, 2015, Expert review of molecular diagnostics.

Histone H3K36 mutations promote sarcomagenesis through altered histone methylation landscape

B. Garcia, C. Allis, B. Dickson, 2016, Science.

NHLRC2 variants identified in patients with fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA): characterisation of a novel cerebropulmonary disease

I. Miinalainen, M. Rämet, Meri I E Uusi-Mäkelä, 2018, Acta Neuropathologica.

DGCR8 microprocessor defect characterizes familial multinodular goiter with schwannomatosis.

J. Ragoussis, R. Paschke, R. Siebert, 2019, The Journal of clinical investigation.

Invasive growth associated with Cold-Inducible RNA-Binding Protein expression drives recurrence of surgically resected brain metastases.

J. Ragoussis, Jean Monlong, G. Bourque, 2021, Neuro-oncology.

Single-cell RNA-seq reveals that glioblastoma recapitulates a normal neurodevelopmental hierarchy

Kevin Petrecca, Bratislav Misic, Jiannis Ragoussis, 2020, Nature Communications.

Loss-of-Function Mutation in APC2 Causes Sotos Syndrome Features.

Z. Nawaz, T. Shintani, M. Noda, 2015, Cell reports.

Identification of QTL controlling meat quality traits in an F2 cross between two chicken lines selected for either low or high growth rate

A. Vignal, C. Berri, E. Le Bihan-Duval, 2007, BMC Genomics.

Comparative Genomics QTL for several metabolic traits map to loci controlling growth and body composition in an F 2 intercross between high- and low-growth chicken lines

A. Vignal, J. Nadaf, S. Aggrey, 2009 .

Germline RECQL mutations are associated with breast cancer susceptibility

Aniruddh Kashyap, Jacek Majewski, Javad Nadaf, 2015, Nature Genetics.

Corrigendum: Germline RECQL mutations are associated with breast cancer susceptibility

W. Foulkes, A. Jakubowska, J. Lubiński, 2016, Nature Genetics.

Effect of Salt Stress in Different Stages of Growth on Qualitative and Quantitative Characteristics of Cumin (Cuminum Cyminum L.)

J. Nadaf, F. Vazin, M. Hassanzadehdelouei, 2013 .

Duplication 2p16 is associated with perisylvian polymicrogyria

C. Walsh, B. Dan, F. Andermann, 2019, American journal of medical genetics. Part A.

Transcriptome Profiling of Granulosa and Theca Cells During Dominant Follicle Development in the Horse1

D. Waddington, J. Nadaf, A. Mcneilly, 2014, Biology of reproduction.

An Expression QTL of Closely Linked Candidate Genes Affects pH of Meat in Chickens

C. Berri, E. Le Bihan-Duval, D. de Koning, 2014, Genetics.

Nonsense mutation in the WDR73 gene is associated with Galloway-Mowat syndrome

Z. Nawaz, V. Tropepe, J. Nadaf, 2015, Journal of Medical Genetics.

Functionally Null RAD51D Missense Mutation Associates Strongly with Ovarian Carcinoma.

S. Bens, R. Siebert, A. Mes-Masson, 2017, Cancer research.

A functionally impaired missense variant identified in French Canadian families implicates FANCI as a candidate ovarian cancer-predisposing gene

Trevor J Pugh, J. Ragoussis, C. Greenwood, 2021, Genome medicine.

The genetic analysis of a founder Northern American population of European descent identifies FANCI as a candidate familial ovarian cancer risk gene

J. Ragoussis, C. Greenwood, A. Mes-Masson, 2020, medRxiv.

Germline and somatic FGFR1 abnormalities in dysembryoplastic neuroepithelial tumors

David T. W. Jones, P. Lockhart, C. Greenwood, 2016, Acta Neuropathologica.

QTL for several metabolic traits map to loci controlling growth and body composition in an F2 intercross between high- and low-growth chicken lines.

A. Vignal, E. Le Bihan-Duval, J. Nadaf, 2009, Physiological genomics.

Recessive osteogenesis imperfecta caused by missense mutations in SPARC.

M. Tétreault, J. Nadaf, J. Majewski, 2015, American journal of human genetics.

ExomeAI: detection of recurrent allelic imbalance in tumors using whole-exome sequencing data

Jacek Majewski, Javad Nadaf, Somayyeh Fahiminiya, 2015, Bioinform..

The Genetic Causes of Nonsyndromic Congenital Retinal Detachment: A Genetic and Phenotypic Study of Pakistani Families

J. Nadaf, J. Majewski, I. Lopez, 2017, Investigative ophthalmology & visual science.

Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type

R. Siebert, A. Berchuck, H. Mackay, 2014, Nature Genetics.

Molecular analyses reveal close similarities between small cell carcinoma of the ovary, hypercalcemic type and atypical teratoid/rhabdoid tumor

M. Kool, W. Foulkes, Ryan S. Lee, 2015, Oncotarget.

PRAME protein expression in DICER1‐related tumours

W. Foulkes, J. Nadaf, P. Thorner, 2022, The journal of pathology. Clinical research.

A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients

W. Chung, M. Baumgartner, A. Montpetit, 2018, Nature Communications.

Correction: Detection of a Cis eQTL Controlling BMCO1 Gene Expression Leads to the Identification of a QTG for Chicken Breast Meat Color

S. Lagarrigue, C. Berri, E. Le Bihan-Duval, 2011, PLoS ONE.

Detection of a Cis eQTL Controlling BMCO1 Gene Expression Leads to the Identification of a QTG for Chicken Breast Meat Color

S. Lagarrigue, C. Berri, E. Le Bihan-Duval, 2011, PloS one.

Molecular characterization of DICER1-mutated pituitary blastoma

J. Ragoussis, W. Foulkes, J. Warner, 2021, Acta Neuropathologica.

Germline Missense Variants in CDC20 Result in Aberrant Mitotic Progression and Familial Cancer

C. Greenwood, S. Bens, R. Siebert, 2021, bioRxiv.

Double Heterozygosity of BRCA2 and STK11 in Familial Breast Cancer Detected by Exome Sequencing

J. Nadaf, J. Majewski, Y. Riazalhosseini, 2015, Iranian journal of public health.

Functional analysis of germline ETV6 variants associated with familial thrombocytopenia and acute lymphoblastic leukemia

C. Pui, L. Silverman, C. Mullighan, 2017 .

Exome sequencing study of partial agenesis of the corpus callosum in men with developmental delay, epilepsy, and microcephaly

C. Laprise, J. Nadaf, J. Majewski, 2019, Molecular genetics & genomic medicine.

Ovarian small cell carcinoma in one of a pair of monozygous twins

W. Foulkes, J. Nadaf, S. Albrecht, 2018, Familial Cancer.

Glioblastoma scRNAseq Shows Treatment-induced, Immune-dependent Rise In Mesenchymal Cancer Cells, and Structural Variants in Distal Neural Stem Cells.

J. Ragoussis, Jean Monlong, G. Bourque, 2022, Neuro-oncology.

Using Targeted Resequencing for Identification of Candidate Genes and SNPs for a QTL Affecting the pH Value of Chicken Meat

C. Berri, E. Le Bihan-Duval, R. Talbot, 2015, G3: Genes, Genomes, Genetics.

Effect of the prior distribution of SNP effects on the estimation of total breeding value

Javad Nadaf, Valentina Riggio, Tun-Ping Yu, 2012, BMC Proceedings.

Infantile onset encephalomyopathy, retinopathy, optic atrophy, and mitochondrial DNA depletion associated with a novel pathogenic DHX16 variant

I. Miinalainen, K. Pylkäs, J. Nadaf, 2023, Clinical genetics.

Author Correction: Single-cell RNA-seq reveals that glioblastoma recapitulates a normal neurodevelopmental hierarchy

J. Ragoussis, H. Najafabadi, Jean Monlong, 2020, Nature Communications.

Extensive QTL and association analyses of the QTLMAS2009 Data

G. Hemani, D. de Koning, J. Nadaf, 2010, BMC Proceedings.

QTL for several metabolic traits map to loci controlling growth and body composition in an F2 intercross between high- and low-growth chicken lines.

A. Vignal, E. Le Bihan-Duval, J. Nadaf, 2009, Physiological genomics.

ExomeAI: detection of recurrent allelic imbalance in tumors using whole-exome sequencing data

J. Nadaf, J. Majewski, S. Fahiminiya, 2015, Bioinform..

Ovarian small cell carcinoma in one of a pair of monozygous twins

W. Foulkes, J. Nadaf, S. Albrecht, 2018, Familial Cancer.

Histone H3K36 mutations promote sarcomagenesis through altered histone methylation landscape

C. Allis, I. Andrulis, J. Nadaf, 2016, Science.

Applying different genomic evaluation approaches on QTLMAS2010 dataset

R. Pong-Wong, J. Nadaf, 2011, BMC proceedings.