Shahnaz Bibi

发表

Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes

William J. Astle, Dorothy A. Thompson, Sri V. V. Deevi, 2018, American journal of human genetics.

Scalable and robust SARS-CoV-2 testing in an academic center

Robert L. Goldstone, James M. A. Turner, J. Ule, 2020, Nature Biotechnology.

Whole genome sequencing of a sporadic primary immunodeficiency cohort

William J. Astle, Sri V. V. Deevi, Kenneth G. C. Smith, 2018, Nature.

X-linked Inhibitor of Apoptosis Complicated by Granulomatous Lymphocytic Interstitial Lung Disease (GLILD) and Granulomatous Hepatitis

S. Ammann, S. Burns, K. Gilmour, 2016, Journal of Clinical Immunology.

The many faces of Artemis-deficient combined immunodeficiency - Two patients with DCLRE1C mutations and a systematic literature review of genotype-phenotype correlation.

P. Jeggo, P. Veys, P. Amrolia, 2013, Clinical immunology.

Characterization of the clinical and immunological phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations.

William J. Astle, Sri V. V. Deevi, Kenneth G. C. Smith, 2020, The Journal of allergy and clinical immunology.

Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans

Crina Samarghitean, Vera Matser, Scott Hackett, 2018, The Journal of allergy and clinical immunology.

One hundred percent survival after transplantation of 34 patients with Wiskott-Aldrich syndrome over 20 years.

G. Lucchini, P. Veys, A. Worth, 2018, The Journal of allergy and clinical immunology.

Morphological, cranial and coat colour variations in Mus musculus castaneus populations of Pothwar, Pakistan

Shahnaz Bibi, 2022 .

The emergence of a new phonological feature in Pakistan English

Nasir A. Syed, Shah Bibi, N. A. Syed, 2021, English Today.

Estimating the effectiveness of routine asymptomatic PCR testing at different frequencies for the detection of SARS-CoV-2 infections

Robert L. Goldstone, Naomi R. Waterlow, Quentin J. Leclerc, 2020, BMC Medicine.

De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures

Henning Gall, Fengyuan Hu, Kevin Rue-Albrecht, 2018, American journal of human genetics.

Atypical Severe Combined Immunodeficiency Caused by a Novel Homozygous Mutation In Rag1 Gene in a Girl who Presented with Pyoderma Gangrenosum: A Case Report and Literature Review

S. Burns, K. Gilmour, Shahnaz Bibi, 2014, Journal of Clinical Immunology.

Atypical Severe Combined Immunodeficiency Caused by a Novel Homozygous Mutation In Rag1 Gene in a Girl who Presented with Pyoderma Gangrenosum: A Case Report and Literature Review

S. Burns, K. Gilmour, Shahnaz Bibi, 2014, Journal of Clinical Immunology.

Whole-genome sequencing of a sporadic primary immunodeficiency cohort

William J. Astle, Sri V. V. Deevi, Kenneth G. C. Smith, 2020, Nature.

Effects of Different Hormonal Concentrations on In vitro Regeneration and Multiplication of Pearl Millet (Pennisetum glaucum L.)

M. Younas, Shahnaz Bibi, S. Ullah, 2022, Journal of Applied Research in Plant Sciences.

Pandemic peak SARS-CoV-2 infection and seroconversion rates in London frontline health-care workers

Robert L. Goldstone, James M. A. Turner, J. Ule, 2020, The Lancet.

Novel IL2RG Mutation Causes Leaky TLOWB+NK+ SCID With Nodular Regenerative Hyperplasia and Normal IL-15 STAT5 Phosphorylation

S. Nejentsev, D. Moshous, K. Gilmour, 2019, Journal of pediatric hematology/oncology.

A case of XMEN syndrome presented with severe auto-immune disorders mimicking autoimmune lymphoproliferative disease.

S. Burns, K. Gilmour, Y. Bryceson, 2015, Clinical immunology.

HABITAT DISTRIBUTION, DIVERSITY AND SYSTEMATICS OF MUS SPP. IN POTHWAR, PAKISTAN

Shahnaz Bibi, 2017 .

Mitochondrial Genetic Diversity and Phylogeography of Mus musculus castaneus in Northern Punjab, Pakistan

M. Jabeen, Shahnaz Bibi, G. Raja, 2017, Zoological Science.

Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension

Fengyuan Hu, Kevin Rue-Albrecht, Patrick Deegan, 2017, Circulation.

Identification of Heterozygous Single- and Multi-exon Deletions in IL7R by Whole Exome Sequencing

Andrew R. Gennery, Angela Grainger, Sophie Hambleton, 2016, Journal of Clinical Immunology.

Novel Gain-of-Function Mutation in Stat1 Sumoylation Site Leads to CMC/CID Phenotype Responsive to Ruxolitinib

K. Gilmour, A. Rowan, Shahnaz Bibi, 2019, Journal of Clinical Immunology.

Haematopoietic Stem Cell Transplantation for DNA Ligase 1 Deficiency

G. Lucchini, P. Jeggo, P. Veys, 2020, Journal of clinical immunology.

Haematopoietic Stem Cell Transplantation for DNA Ligase 1 Deficiency

G. Lucchini, P. Jeggo, P. Veys, 2020, Journal of Clinical Immunology.

Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.

Dorothy A. Thompson, Sri V. V. Deevi, Eleanor F. Dewhurst, 2017, American journal of human genetics.

First record of Mus cookii (Cook’s mouse) from Pothwar, Pakistan: a probable case of range extension?

T. Mahmood, Shahnaz Bibi, M. Mushtaq, 2019, Mammalia.

Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data

Andy G Lynch, Sri V. V. Deevi, Eleanor F. Dewhurst, 2017, Scientific Reports.

Autosomal Dominant STAT6 Gain of Function Causes Severe Atopy Associated with Lymphoma

Sri V. V. Deevi, Eleanor F. Dewhurst, Lorena E. Lorenzo, 2023, Journal of Clinical Immunology.

X-linked Inhibitor of Apoptosis Complicated by Granulomatous Lymphocytic Interstitial Lung Disease (GLILD) and Granulomatous Hepatitis

S. Ammann, S. Burns, K. Gilmour, 2016, Journal of Clinical Immunology.

Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data

Sri V. V. Deevi, Eleanor F. Dewhurst, Courtney E. French, 2017, Scientific Reports.

Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension

Sri V. V. Deevi, Eleanor F. Dewhurst, Lorena E. Lorenzo, 2017, Circulation.

Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration.

Sri V. V. Deevi, Eleanor F. Dewhurst, Lorena E. Lorenzo, 2017, American journal of human genetics.