Nature Search

Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations

Using well-calibrated statistical methods the authors jointly analyze Undiagnosed Diseases Network genomes, identifying known and novel disease genes. Software is publicly available to support future cross-cohort rare disease discovery efforts.

Shilpa Nadimpalli Kobren
Mikhail A. Moldovan
Shamil R. Sunyaev
ResearchOpen Access07 Aug 2025
Nature Communications

Volume: 16, P: 1-19
Combination cancer immunotherapy and new immunomodulatory targets

Anticancer immunotherapy through checkpoint blockade enables the patient to mount active antitumour responses and can dramatically improve survival. In this Review, Mahoney, Rennert and Freeman examine targets for next-generation immunomodulators and discuss how these may be integrated in rational combination therapies with existing and upcoming immune-targeted drugs.

Kathleen M. Mahoney
Paul D. Rennert
Gordon J. Freeman
Reviews31 Jul 2015
Nature Reviews Drug Discovery

Volume: 14, P: 561-584
Inhibitory effects of the combination of HER-2 antisense oligonucleotide and chemotherapeutic agents used for the treatment of human breast cancer

Antonina S Rait
Kathleen F Pirollo
Esther H Chang
Research30 Oct 2001
Cancer Gene Therapy

Volume: 8, P: 728-739
Acidity changes immunology: a new VISTA pathway

Hypoxia and acidity in the tumor microenvironment promote resistance to immunotherapy. Hypoxia upregulates multiple immunoinhibitory pathways, including VISTA, and acidity enables VISTA to interact with PSGL-1 to inhibit immune activation selectively in the acidic tumor microenvironment.

Kathleen M. Mahoney
Gordon J. Freeman
News & Views10 Dec 2019
Nature Immunology

Volume: 21, P: 13-16
The importance of exosomal PDL1 in tumour immune evasion

Freeman and colleagues draw our attention to the existence of different forms of PDL1 — cell bound and various extracellular forms. Recent studies show that PDL1 on exosomes can inhibit antitumour immune responses and may be a useful biomarker for the management of cancer immunotherapy.

Dhouha Daassi
Kathleen M. Mahoney
Gordon J. Freeman
Reviews21 Jan 2020
Nature Reviews Immunology

Volume: 20, P: 209-215
Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation

Magdalena Koczkowska
Tom Callens
Ludwine M. Messiaen
ResearchOpen Access07 Sept 2018
Genetics in Medicine

Volume: 21, P: 867-876
Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment

Marie Morimoto
Vikas Bhambhani
May Christine V. Malicdan
ResearchOpen Access10 Feb 2023
npj Genomic Medicine

Volume: 8, P: 1-16
Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation

Magdalena Koczkowska
Tom Callens
Ludwine M. Messiaen
Amendments and Corrections02 Oct 2018
Genetics in Medicine

Volume: 21, P: 764-765

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Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations

Combination cancer immunotherapy and new immunomodulatory targets

Inhibitory effects of the combination of HER-2 antisense oligonucleotide and chemotherapeutic agents used for the treatment of human breast cancer

Acidity changes immunology: a new VISTA pathway

The importance of exosomal PDL1 in tumour immune evasion

Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation

Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment

Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation

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