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Mutations in TJP2 cause progressive cholestatic liver disease

Nature genetics, 2014-04, Vol.46 (4), p.326-328

2014

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Prospective changes in irrigation water requirements caused by agricultural expansion and climate changes in the eastern arc mountains of Kenya

Journal of environmental management, 2011-03, Vol.92 (3), p.982-993

2011

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Potential impacts of agricultural expansion and climate change on soil erosion in the Eastern Arc Mountains of Kenya

Geomorphology (Amsterdam, Netherlands), 2010-11, Vol.123 (3), p.279-289

2010

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Modelling agricultural expansion in Kenya’s Eastern Arc Mountains biodiversity hotspot

Agricultural systems, 2010-11, Vol.103 (9), p.609-620

2010

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Assessment of the iliocapsularis muscle on magnetic resonance imaging

Journal of medical imaging and radiation oncology, 2022-10, Vol.66 (7), p.920-926

2022

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A Sri Lankan girl with a new genetic variant in the PKLR gene causing pyruvate kinase deficiency: a case report

Journal of medical case reports, 2021-07, Vol.15 (1), p.1-374, Article 374

2021

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Detection of Hb Rothschild HBB: c.[112T>A or 112T>C], Through High Index of Suspicion on Abnormal Pulse Oximetry

Hemoglobin, 2017-03, Vol.41 (2), p.137-139

2017

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The Use of Next‐generation Sequencing in the Diagnosis of Rare Inherited Anaemias: A Joint BSH/EHA Good Practice Paper

HemaSphere, 2022-06, Vol.6 (6), p.e739-n/a

2022

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Two Novel Mutations (HBG1: c.-250C>T and HBG2: c.-250C>T) Associated With Hereditary Persistence of Fetal Hemoglobin

Hemoglobin, 2014-01, Vol.38 (1), p.67-69

2014

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Genome annotation of a 1.5 Mb region of human chromosome 6q23 encompassing a quantitative trait locus for fetal hemoglobin expression in adults

BMC genomics, 2004-05, Vol.5 (1), p.33-33, Article 33

2004

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Novel NFKB2 Pathogenic Variants in Two Unrelated Patients with Common Variable Immunodeficiency

Journal of clinical immunology, 2023-08, Vol.43 (6), p.1159-1164

2023

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A method for noninvasive prenatal diagnosis of monogenic autosomal recessive disorders

Blood, 2019-10, Vol.134 (14), p.1190-1193

2019

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Next Generation Sequencing Identifies a Novel Rearrangement in the HBB Cluster Permitting to-the-Base Characterization

Human mutation, 2015-01, Vol.36 (1), p.142-150

2015

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Improving the laboratory diagnosis of pyruvate kinase deficiency

British journal of haematology, 2021-06, Vol.193 (5), p.994-1000

2021

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DIPG-53. AN EXCEPTIONALLY RARE CASE OF A DIFFUSE MIDLINE GLIOMA WITH CONCOMITANT H3.1 K27M AND G34R MUTATIONS IN THEHIST1H3C (H3C3) GENE

Neuro-oncology (Charlottesville, Va.), 2024-06, Vol.26 (Suppl 4), p.0-0

2024

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Pyridoxine‐sensitive X‐linked ‘sideroblastic’ anaemia in the absence of ring sideroblasts – molecular diagnosis

British journal of haematology, 2018-01, Vol.180 (1), p.10-10

2018

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H3 G34-mutant high-grade gliomas: integrated clinical, imaging and pathological characterisation of a single-centre case series

Acta neurochirurgica, 2023-06, Vol.165 (6), p.1615-1633

2023

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Novel NFKB2 Mutation in Early-Onset CVID

Journal of clinical immunology, 2014-08, Vol.34 (6), p.686-690

2014

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Congenital sideroblastic anemia in a female

American journal of hematology, 2018-09, Vol.93 (9), p.1181-1182

2018

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The use of next‐generation sequencing in the diagnosis of rare inherited anaemias: A Joint BSH/EHA Good Practice Paper

British journal of haematology, 2022-08, Vol.198 (3), p.459-477

2022

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The selection of appropriate spectrally bright pseudo-invariant ground targets for use in empirical line calibration of SPOT satellite imagery

ISPRS journal of photogrammetry and remote sensing, 2011-07, Vol.66 (4), p.429-445

2011

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THE ROLE OF A GENOMICS CLINICAL NURSE SPECIALIST IN HELPING TO BUILD A PATHWAY FOR WHOLE GENOME SEQUENCING TO BE OFFERED TO NEURO-ONCOLOGY PATIENTS

Neuro-oncology (Charlottesville, Va.), 2023-09, Vol.25 (Supplement_3), p.iii20-iii20

2023

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Novel ADA 2 mutation presenting with neutropenia, lymphopenia and bone marrow failure in patients with deficiency in adenosine deaminase 2 ( DADA 2)

British journal of haematology, 2019-08, Vol.186 (3)

2019

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Genomic DNA “finger-printing” in diagnostic virology to clarify discrepant HIV results

Journal of clinical virology, 2015-12, Vol.73, p.36-41

2015

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Mutations in TJP2 cause progressive cholestatic liver disease

Prospective changes in irrigation water requirements caused by agricultural expansion and climate changes in the eastern arc mountains of Kenya

Potential impacts of agricultural expansion and climate change on soil erosion in the Eastern Arc Mountains of Kenya

Modelling agricultural expansion in Kenya’s Eastern Arc Mountains biodiversity hotspot

Assessment of the iliocapsularis muscle on magnetic resonance imaging

A Sri Lankan girl with a new genetic variant in the PKLR gene causing pyruvate kinase deficiency: a case report

Detection of Hb Rothschild HBB: c.[112T>A or 112T>C], Through High Index of Suspicion on Abnormal Pulse Oximetry

The Use of Next‐generation Sequencing in the Diagnosis of Rare Inherited Anaemias: A Joint BSH/EHA Good Practice Paper

Two Novel Mutations (HBG1: c.-250C>T and HBG2: c.-250C>T) Associated With Hereditary Persistence of Fetal Hemoglobin

Genome annotation of a 1.5 Mb region of human chromosome 6q23 encompassing a quantitative trait locus for fetal hemoglobin expression in adults

Novel NFKB2 Pathogenic Variants in Two Unrelated Patients with Common Variable Immunodeficiency

A method for noninvasive prenatal diagnosis of monogenic autosomal recessive disorders

Next Generation Sequencing Identifies a Novel Rearrangement in the HBB Cluster Permitting to-the-Base Characterization

Improving the laboratory diagnosis of pyruvate kinase deficiency

DIPG-53. AN EXCEPTIONALLY RARE CASE OF A DIFFUSE MIDLINE GLIOMA WITH CONCOMITANT H3.1 K27M AND G34R MUTATIONS IN THEHIST1H3C (H3C3) GENE

TLR9 expression in chronic lymphocytic leukemia identifies a promigratory subpopulation and novel therapeutic target

Pyridoxine‐sensitive X‐linked ‘sideroblastic’ anaemia in the absence of ring sideroblasts – molecular diagnosis

H3 G34-mutant high-grade gliomas: integrated clinical, imaging and pathological characterisation of a single-centre case series

Novel NFKB2 Mutation in Early-Onset CVID

Congenital sideroblastic anemia in a female

The use of next‐generation sequencing in the diagnosis of rare inherited anaemias: A Joint BSH/EHA Good Practice Paper

The selection of appropriate spectrally bright pseudo-invariant ground targets for use in empirical line calibration of SPOT satellite imagery

THE ROLE OF A GENOMICS CLINICAL NURSE SPECIALIST IN HELPING TO BUILD A PATHWAY FOR WHOLE GENOME SEQUENCING TO BE OFFERED TO NEURO-ONCOLOGY PATIENTS

Novel ADA 2 mutation presenting with neutropenia, lymphopenia and bone marrow failure in patients with deficiency in adenosine deaminase 2 ( DADA 2)

Genomic DNA “finger-printing” in diagnostic virology to clarify discrepant HIV results

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