Nature Search

Refinement of the gene locus for autosomal recessive juvenile parkinsonism (AR-JP) on chromosome 6q25.2-27 and identification of markers exhibiting linkage disequilibrium

Masaaki Saito
Hiroto Matsumine
S. Tsuji
Research01 Feb 1998
Journal of Human Genetics

Volume: 43, P: 22-31
The landscape of receptor-mediated precision cancer combination therapy via a single-cell perspective

Intra-tumor heterogeneity is often associated with resistance to targeted therapy, requiring the design of combinatorial therapies. Here, based on tumor single-cell transcriptomic datasets, the authors develop a computational approach to identify optimal combinatorial treatments targeting membrane receptors for cancer therapy.

Saba Ahmadi
Pattara Sukprasert
Eytan Ruppin
ResearchOpen Access25 Mar 2022
Nature Communications

Volume: 13, P: 1-17
A deep learning approach reveals unexplored landscape of viral expression in cancer

Here, Elbasir et al. develop viRNAtrap, a deep learning approach for detection of viruses from tumor RNA sequencing data, which they showcase on an RNA dataset of different cancer types, revealing tumor expression of divergent viruses that had not been previously implicated in cancer.

Abdurrahman Elbasir
Ying Ye
Noam Auslander
ResearchOpen Access11 Feb 2023
Nature Communications

Volume: 14, P: 1-12
Mutations in COMP cause familial carpal tunnel syndrome

Familial carpal tunnel syndrome (CTS) is common, but causal genes are not characterized. Here the authors report two CTS-related mutations in two large families that impair secretion of COMP in tenocytes, leading to ER stress-induced unfolded protein response, inflammation and fibrosis in patients and mouse models.

Chunyu Li
Ni Wang
Bo Gao
ResearchOpen Access20 Jul 2020
Nature Communications

Volume: 11, P: 1-16
Outcome differences by sex in oncology clinical trials

The role of sex differences in response to cancer therapy remains unclear but this could be improved by reporting sex comparisons of outcomes in clinical trials. Here, the authors characterise the sex outcome comparisons in 89,221 interventional trials, finding that while comparisons were rare, important insights could be obtained.

Ashwin V. Kammula
Alejandro A. Schäffer
Eytan Ruppin
ResearchOpen Access23 Mar 2024
Nature Communications

Volume: 15, P: 1-13
Author Correction: Mutations in COMP cause familial carpal tunnel syndrome

Chunyu Li
Ni Wang
Bo Gao
Amendments and CorrectionsOpen Access03 Aug 2020
Nature Communications

Volume: 11, P: 1
Strain level microbial detection and quantification with applications to single cell metagenomics

Here the authors develop CAMMiQ, a combinatorial optimization approach that utilizes variable length, “unique” and “doubly-unique” genomic segments, showing improves identification and quantification of distinct microbes in metagenomic sequence data.

Kaiyuan Zhu
Alejandro A. Schäffer
S. Cenk Sahinalp
ResearchOpen Access28 Oct 2022
Nature Communications

Volume: 13, P: 1-19
Mutant deoxynucleotide carrier is associated with congenital microcephaly

Marjorie J. Rosenberg
Richa Agarwala
Leslie G. Biesecker
Research19 Aug 2002
Nature Genetics

Volume: 32, P: 175-179
Higher prevalence of homologous recombination deficiency in tumors from African Americans versus European Americans

Ryan and colleagues analyze genomic features in tumors from African Americans and European Americans and find that homologous recombination deficiency is more prevalent in African Americans.

Sanju Sinha
Khadijah A. Mitchell
Bríd M. Ryan
Research13 Jan 2020
Nature Cancer

Volume: 1, P: 112-121
A novel human primary immunodeficiency syndrome caused by deficiency of the endosomal adaptor protein p14

Georg Bohn
Anna Allroth
Christoph Klein
Research31 Dec 2006
Nature Medicine

Volume: 13, P: 38-45
Homozygous loss of ICOS is associated with adult-onset common variable immunodeficiency

Bodo Grimbacher
Andreas Hutloff
Hans H. Peter
Research10 Feb 2003
Nature Immunology

Volume: 4, P: 261-268
Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations

Mutations in the costimulatory molecule CTLA-4 in six families are associated with immune dysregulation.

Desirée Schubert
Claudia Bode
Bodo Grimbacher
Research20 Oct 2014
Nature Medicine

Volume: 20, P: 1410-1416
PERCEPTION predicts patient response and resistance to treatment using single-cell transcriptomics of their tumors

Sinha and colleagues present PERCEPTION, a precision oncology computational pipeline that can predict the response and resistance of patients by analyzing single-cell transcriptomic data from their tumor samples.

Sanju Sinha
Rahulsimham Vegesna
Eytan Ruppin
Research18 Apr 2024
Nature Cancer

Volume: 5, P: 938-952
Chromatin-remodeling factor SMARCD2 regulates transcriptional networks controlling differentiation of neutrophil granulocytes

Christoph Klein and colleagues identify loss-of-function mutations in SMARCD2 (BAF60b) that lead to neutropenia, specific granule deficiency and myelodysplasia. They show that SMARCD2 controls differentiation of myeloid–erythroid progenitor cells through interaction with CEBPɛ and that reduced SMARCD2 levels cause transcription and chromatin alterations in acute myeloid leukemia cells.

Maximilian Witzel
Daniel Petersheim
Christoph Klein
Research03 Apr 2017
Nature Genetics

Volume: 49, P: 742-752
Hallmarks of artificial intelligence contributions to precision oncology

Ruppin and colleagues overview recent research on the use of AI frameworks in precision oncology, describe ten hallmarks of their contributions across cancer detection, therapy optimization and treatment discovery, and discuss key challenges in clinical implementation

Tian-Gen Chang
Seongyong Park
Eytan Ruppin
Reviews07 Mar 2025
Nature Cancer

Volume: 6, P: 417-431
Atm haploinsufficiency results in increased sensitivity to sublethal doses of ionizing radiation in mice

Carrolee Barlow
Michael A. Eckhaus
Anthony Wynshaw-Boris
Correspondence01 Apr 1999
Nature Genetics

Volume: 21, P: 359-360
The evolution of tumour phylogenetics: principles and practice

The use of phylogenetics in cancer genomics is increasing owing to a growing appreciation of the importance of evolutionary theory to cancer progression. The authors provide guidance on the design and analysis of tumour phylogeny studies by surveying the range of phylogenetic methods and tools available to the cancer researcher and discussing their key applications and the unsolved problems in the field.

Russell Schwartz
Alejandro A. Schäffer
Reviews13 Feb 2017
Nature Reviews Genetics

Volume: 18, P: 213-229
HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease)

Christoph Klein
Magda Grudzien
Karl Welte
Research24 Dec 2006
Nature Genetics

Volume: 39, P: 86-92
JAGN1 deficiency causes aberrant myeloid cell homeostasis and congenital neutropenia

Christoph Klein and colleagues identify homozygous mutations in the JAGN1 gene in families and individuals with severe congenital neutropenia. They show that JAGN1 is necessary for the differentiation and survival of neutrophil granulocytes.

Kaan Boztug
Päivi M Järvinen
Christoph Klein
Research01 Sept 2014
Nature Genetics

Volume: 46, P: 1021-1027
Optimizing cancer immunotherapy response prediction by tumor aneuploidy score and fraction of copy number alterations

Tian-Gen Chang
Yingying Cao
Eytan Ruppin
ResearchOpen Access03 Jun 2023
npj Precision Oncology

Volume: 7, P: 1-8
Single-cell resolved ploidy and chromosomal aberrations in nonalcoholic steatohepatitis-(NASH) induced hepatocellular carcinoma and its precursor lesions

Juliane Friemel
Irianna Torres
Kerstin Heselmeyer-Haddad
ResearchOpen Access31 Dec 2022
Scientific Reports

Volume: 12, P: 1-11
Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants

Jennifer J Johnston
Jasper J van der Smagt
Leslie G Biesecker
Research22 Feb 2018
Genetics in Medicine

Volume: 20, P: 1175-1185
Linkage of autosomal-dominant common variable immunodeficiency to chromosome 4q

Anemone Finck
Jos W M Van der Meer
Bodo Grimbacher
Research26 Apr 2006
European Journal of Human Genetics

Volume: 14, P: 867-875
On the statistical properties of family-based association tests in datasets containing both pedigrees and unrelated case–control samples

Tero Hiekkalinna
Harald HH Göring
Joseph D Terwilliger
Research21 Sept 2011
European Journal of Human Genetics

Volume: 20, P: 217-223
Recurring Amplification at 11q22.1-q22.2 Locus Plays an Important Role in Lymph Node Metastasis and Radioresistance in OSCC

Priyanka G. Bhosale
Manishkumar Pandey
Manoj B. Mahimkar
ResearchOpen Access22 Nov 2017
Scientific Reports

Volume: 7, P: 1-14

Search

Refinement of the gene locus for autosomal recessive juvenile parkinsonism (AR-JP) on chromosome 6q25.2-27 and identification of markers exhibiting linkage disequilibrium

The landscape of receptor-mediated precision cancer combination therapy via a single-cell perspective

A deep learning approach reveals unexplored landscape of viral expression in cancer

Mutations in COMP cause familial carpal tunnel syndrome

Outcome differences by sex in oncology clinical trials

Author Correction: Mutations in COMP cause familial carpal tunnel syndrome

Strain level microbial detection and quantification with applications to single cell metagenomics

Mutant deoxynucleotide carrier is associated with congenital microcephaly

Higher prevalence of homologous recombination deficiency in tumors from African Americans versus European Americans

A novel human primary immunodeficiency syndrome caused by deficiency of the endosomal adaptor protein p14

Homozygous loss of ICOS is associated with adult-onset common variable immunodeficiency

Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations

PERCEPTION predicts patient response and resistance to treatment using single-cell transcriptomics of their tumors

Chromatin-remodeling factor SMARCD2 regulates transcriptional networks controlling differentiation of neutrophil granulocytes

Hallmarks of artificial intelligence contributions to precision oncology

Atm haploinsufficiency results in increased sensitivity to sublethal doses of ionizing radiation in mice

The evolution of tumour phylogenetics: principles and practice

HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease)

JAGN1 deficiency causes aberrant myeloid cell homeostasis and congenital neutropenia

Optimizing cancer immunotherapy response prediction by tumor aneuploidy score and fraction of copy number alterations

Single-cell resolved ploidy and chromosomal aberrations in nonalcoholic steatohepatitis-(NASH) induced hepatocellular carcinoma and its precursor lesions

Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants

Linkage of autosomal-dominant common variable immunodeficiency to chromosome 4q

On the statistical properties of family-based association tests in datasets containing both pedigrees and unrelated case–control samples

Recurring Amplification at 11q22.1-q22.2 Locus Plays an Important Role in Lymph Node Metastasis and Radioresistance in OSCC

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