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M-CAP eliminates a majority of variants of uncertain significance in clinical exomes at high sensitivity

Nature genetics, 2016-12, Vol.48 (12), p.1581-1586

2016

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Institutional end-of-life care policy for inpatients at a tertiary care centre in India: A way forward to provide a system for a dignified death

Indian journal of medical research (New Delhi, India : 1994), 2022-02, Vol.155 (2), p.232-242

2022

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Polygenic architecture of rare coding variation across 394,783 exomes

Nature (London), 2023-02, Vol.614 (7948), p.492-499

2023

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Deriving genomic diagnoses without revealing patient genomes

Science (American Association for the Advancement of Science), 2017-08, Vol.357 (6352), p.692-695

2017

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Combining SNP-to-gene linking strategies to identify disease genes and assess disease omnigenicity

Nature genetics, 2022-06, Vol.54 (6), p.827-836

2022

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Prominent pseudo-Gaucher cells in a patient with β-thalassemia intermedia and plasma cell myeloma

Blood, 2020-12, Vol.136 (24), p.2839-2839

2020

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Interplay of vascular endothelial growth factor receptors in organ-specific vessel maintenance

The Journal of experimental medicine, 2022-03, Vol.219 (3)

2022

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SAIGE-GENE+ improves the efficiency and accuracy of set-based rare variant association tests

Nature genetics, 2022-10, Vol.54 (10), p.1466-1469

2022

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A macroecological perspective on genetic diversity in the human gut microbiome

PloS one, 2023-07, Vol.18 (7), p.e0288926

2023

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Computational analysis into the potential of azo dyes as a feedstock for actinorhodin biosynthesis in Pseudomonas putida

PloS one, 2024-03, Vol.19 (3), p.e0299128-e0299128

2024

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AMELIE speeds Mendelian diagnosis by matching patient phenotype and genotype to primary literature

Science translational medicine, 2020-05, Vol.12 (544)

2020

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Identifying disease-critical cell types and cellular processes by integrating single-cell RNA-sequencing and human genetics

Nature genetics, 2022-10, Vol.54 (10), p.1479-1492

2022

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GATA2 deficiency-associated bone marrow disorder differs from idiopathic aplastic anemia

Blood, 2015-01, Vol.125 (1), p.56-70

2015

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Polygenic enrichment distinguishes disease associations of individual cells in single-cell RNA-seq data

Nature genetics, 2022-10, Vol.54 (10), p.1572-1580

2022

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Severe fluctuation in mean perfusion pressure is associated with increased risk of in-hospital mortality in critically ill patients with central venous pressure monitoring: A retrospective observational study

PloS one, 2023-06, Vol.18 (6), p.e0287046-e0287046

2023

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S-CAP extends pathogenicity prediction to genetic variants that affect RNA splicing

Nature genetics, 2019-04, Vol.51 (4), p.755-763

2019

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Hemophagocytic lymphohistiocytosis associated with visceral leishmaniasis

Blood, 2016-01, Vol.127 (4), p.513-513

2016

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Peripheral T‐cell lymphomas expressing CD30 and CD15 expand the spectrum of anaplastic large cell lymphoma, ALK‐negative

British journal of haematology, 2024-05, Vol.204 (5), p.1862-1871

2024

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Comparison of lung aeration loss in open abdominal oncologic surgeries after ventilation with electrical impedance tomography-guided PEEP versus conventional PEEP: a pilot feasibility study

Korean Journal of Anesthesiology, 2024, 77(3), , pp.353-363

2024

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Phrank measures phenotype sets similarity to greatly improve Mendelian diagnostic disease prioritization

Genetics in medicine, 2019-02, Vol.21 (2), p.464-470

2019

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EBV-negative Aggressive NK-cell Leukemia/Lymphoma: Clinical, Pathologic, and Genetic Features

The American journal of surgical pathology, 2017-01, Vol.41 (1), p.67-74

2017

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Indolent T‐ and NK‐cell lymphoproliferative disorders of the gastrointestinal tract: a review and update

Hematological oncology, 2017-03, Vol.35 (1), p.3-16

2017

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Early lymphoid lesions: conceptual, diagnostic and clinical challenges

Haematologica (Roma), 2014-09, Vol.99 (9), p.1421-1432

2014

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AVADA: toward automated pathogenic variant evidence retrieval directly from the full-text literature

Genetics in medicine, 2020-02, Vol.22 (2), p.362-370

2020

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An MTF1 binding site disrupted by a homozygous variant in the promoter of ATP7B likely causes Wilson Disease

European journal of human genetics : EJHG, 2018-12, Vol.26 (12), p.1810-1818

2018

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M-CAP eliminates a majority of variants of uncertain significance in clinical exomes at high sensitivity

Institutional end-of-life care policy for inpatients at a tertiary care centre in India: A way forward to provide a system for a dignified death

Polygenic architecture of rare coding variation across 394,783 exomes

Deriving genomic diagnoses without revealing patient genomes

Combining SNP-to-gene linking strategies to identify disease genes and assess disease omnigenicity

Prominent pseudo-Gaucher cells in a patient with β-thalassemia intermedia and plasma cell myeloma

Interplay of vascular endothelial growth factor receptors in organ-specific vessel maintenance

SAIGE-GENE+ improves the efficiency and accuracy of set-based rare variant association tests

A macroecological perspective on genetic diversity in the human gut microbiome

Computational analysis into the potential of azo dyes as a feedstock for actinorhodin biosynthesis in Pseudomonas putida

AMELIE speeds Mendelian diagnosis by matching patient phenotype and genotype to primary literature

Identifying disease-critical cell types and cellular processes by integrating single-cell RNA-sequencing and human genetics

GATA2 deficiency-associated bone marrow disorder differs from idiopathic aplastic anemia

Polygenic enrichment distinguishes disease associations of individual cells in single-cell RNA-seq data

Severe fluctuation in mean perfusion pressure is associated with increased risk of in-hospital mortality in critically ill patients with central venous pressure monitoring: A retrospective observational study

S-CAP extends pathogenicity prediction to genetic variants that affect RNA splicing

Hemophagocytic lymphohistiocytosis associated with visceral leishmaniasis

Peripheral T‐cell lymphomas expressing CD30 and CD15 expand the spectrum of anaplastic large cell lymphoma, ALK‐negative

Comparison of lung aeration loss in open abdominal oncologic surgeries after ventilation with electrical impedance tomography-guided PEEP versus conventional PEEP: a pilot feasibility study

Phrank measures phenotype sets similarity to greatly improve Mendelian diagnostic disease prioritization

EBV-negative Aggressive NK-cell Leukemia/Lymphoma: Clinical, Pathologic, and Genetic Features

Indolent T‐ and NK‐cell lymphoproliferative disorders of the gastrointestinal tract: a review and update

Early lymphoid lesions: conceptual, diagnostic and clinical challenges

AVADA: toward automated pathogenic variant evidence retrieval directly from the full-text literature

An MTF1 binding site disrupted by a homozygous variant in the promoter of ATP7B likely causes Wilson Disease

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