S. Mahamdallie

发表

Resolving the full spectrum of human genome variation using Linked-Reads

Ian T. Fiddes, Stephen R. Williams, Pranav B. Patel, 2019, Genome research.

Implementing rapid, robust, cost-effective, patient-centred, routine genetic testing in ovarian cancer patients

S. Seal, N. Rahman, M. Gore, 2016, Scientific Reports.

Protistan community analysis: key findings of a large-scale molecular sampling

Dominik Heider, Daniel Hoffmann, Hanna Hartikainen, 2016, The ISME Journal.

The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants

N. Rahman, D. Baralle, C. Mercer, 2018, Wellcome open research.

High‐throughput sequencing of microbial eukaryotes in Lake Baikal reveals ecologically differentiated communities and novel evolutionary radiations

T. Cavalier-smith, S. Mahamdallie, H. Hartikainen, 2017, FEMS microbiology ecology.

Phylogenetics of the Old World screwworm fly and its significance for planning control and monitoring invasions in Asia.

S. Mahamdallie, P. Ready, M. Cameron, 2012, International journal for parasitology.

No recent adaptive selection on the apyrase of Mediterranean Phlebotomus: implications for using salivary peptides to vaccinate against canine leishmaniasis

S. Mahamdallie, P. Ready, 2011, Evolutionary applications.

One in seven pathogenic variants can be challenging to detect by NGS: an analysis of 450,000 patients with implications for clinical sensitivity and genetic test implementation

S. Seal, M. Kennemer, R. Nussbaum, 2020, Genetics in Medicine.

CoverView: a sequence quality evaluation tool for next generation sequencing data

S. Seal, N. Rahman, S. Mahamdallie, 2018, Wellcome open research.

Resolving the Full Spectrum of Human Genome Variation using Linked-Reads

Deanna M. Church, Nazneen Rahman, Andrew Wei Xu, 2017, bioRxiv.

Sarcoma and the 100,000 Genomes Project: our experience and changes to practice

S. Mahamdallie, A. Flanagan, S. Strauss, 2020, The journal of pathology. Clinical research.

Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability

S. Seal, N. Rahman, I. Temple, 2017, American journal of human genetics.

Corrigendum: Mutations in the transcriptional repressor REST predispose to Wilms tumor

C. Shaw, S. Seal, N. Rahman, 2016, Nature Genetics.

Mutations in the transcriptional repressor REST predispose to Wilms tumor

C. Shaw, S. Seal, N. Rahman, 2015, Nature Genetics.

Germline mutations in the PAF1 complex gene CTR9 predispose to Wilms tumour

S. Seal, N. Rahman, S. Hanks, 2014, Nature Communications.

The ICR639 CPG NGS validation series: A resource to assess analytical sensitivity of cancer predisposition gene testing

Shazia Mahamdallie, Elise Ruark, Anthony Renwick, 2018, Wellcome open research.

Integrated Mapping of Establishment Risk for Emerging Vector-Borne Infections: A Case Study of Canine Leishmaniasis in Southwest France

S. Mahamdallie, H. Heesterbeek, S. Vanwambeke, 2011, PloS one.

Integrated Mapping of Establishment Risk for Emerging Vector-Borne Infections : a Case Study of Leishmaniasis in South-Western France "

S. Mahamdallie, H. Heesterbeek, S. Vanwambeke, 2019 .

Multiple genetic divergences and population expansions of a Mediterranean sandfly, Phlebotomus ariasi, in Europe during the Pleistocene glacial cycles

S. Mahamdallie, P. Ready, B. Pesson, 2011, Heredity.

Postglacial dispersal of Phlebotomus perniciosus into France.

S. Mahamdallie, P. Ready, B. Pesson, 2005, Parasite.

Accurate clinical detection of exon copy number variants in a targeted NGS panel using DECoN

Nazneen Rahman, Anna Fowler, Gerton Lunter, 2016, Wellcome open research.

Evaluation of Cancer-Based Criteria for Use in Mainstream BRCA1 and BRCA2 Genetic Testing in Patients With Breast Cancer

Nazneen Rahman, Shazia Mahamdallie, Shawn Yost, 2019, JAMA network open.

An interlaboratory study of complex variant detection

Marc L. Salit, Eric W. Klee, Nazneen Rahman, 2017, bioRxiv.

Phylogeography of Androctonus species (Scorpiones: Buthidae) in Tunisia: Diagnostic characters for linking species to scorpionism.

S. Mahamdallie, P. Ready, Z. Haouas, 2009, Acta tropica.

CSN and CAVA: variant annotation tools for rapid, robust next-generation sequencing analysis in the clinical setting

Nazneen Rahman, Gerton Lunter, Shazia Mahamdallie, 2015, Genome Medicine.

Identification of new Wilms tumour predisposition genes: an exome sequencing study

S. Seal, N. Rahman, S. Hanks, 2019, The Lancet. Child & adolescent health.

ICR142 Benchmarker: evaluating, optimising and benchmarking variant calling performance using the ICR142 NGS validation series

Nazneen Rahman, Shazia Mahamdallie, Elise Ruark, 2018, Wellcome open research.

ICR142 Benchmarker: evaluating, optimising and benchmarking variant calling performance using the ICR142 NGS validation series

N. Rahman, S. Ellard, A. Renwick, 2018, Wellcome Open Research.

The ICR96 exon CNV validation series: a resource for orthogonal assessment of exon CNV calling in NGS data

S. Seal, N. Rahman, A. Renwick, 2017, Wellcome Open Research.

Clinical Annotation Reference Templates: a resource for consistent variant annotation

Nazneen Rahman, Shazia Mahamdallie, Elise Ruark, 2018, Wellcome Open Research.

CSN and CAVA: variant annotation tools for rapid, robust next-generation sequencing analysis in the clinical setting

S. Seal, N. Rahman, G. Lunter, 2015, Genome Medicine.

The ICR1000 UK exome series: a resource of gene variation in an outbred population

S. Seal, N. Rahman, A. Renwick, 2015, F1000Research.

The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants

N. Rahman, D. Baralle, C. Mercer, 2018, Wellcome open research.

The Quality Sequencing Minimum (QSM): providing comprehensive, consistent, transparent next generation sequencing data quality assurance

Shazia Mahamdallie, Elise Ruark, Shawn Yost, 2018, Wellcome open research.

The Quality Sequencing Minimum (QSM): providing comprehensive, consistent, transparent next generation sequencing data quality assurance [version 1; peer review: 2 approved, 1 approved with reservations]

S. Seal, N. Rahman, A. Renwick, 2021 .

ICR142 Benchmarker: evaluating, optimising and benchmarking variant calling performance using the ICR142 NGS validation series

N. Rahman, S. Ellard, A. Renwick, 2018, Wellcome open research.

ICR142 Benchmarker: evaluating, optimising and benchmarking variant calling using the ICR142 NGS validation series [version 1; peer review: 2 approved with reservations]

N. Rahman, S. Ellard, A. Renwick, 2021 .

Previously titled: ICR142 Benchmarker: evaluating, optimising and benchmarking variant calling using the ICR142 NGS validation series

A. Renwick, Esty Holt, S. Mahamdallie, 2018 .