Sam Behjati

The paper uses whole genome sequencing to study cancer spread between monozygotic twins, revealing asymmetrical embryonic lineage contributions to the placenta and twins.

The paper reports mutation rates and mutational signatures across 53 normal human cell types, revealing variation in mutation accumulation and identifying known and unknown mutational processes.

Human Developmental Cell Atlas integrates ~4.6 million cells/nuclei from 4-22 post-conception weeks into 454 refined cell types and maps 114 spatial niches across 6PCW whole-embryo sections.

The paper identifies mutational signatures in normal kidney cells from multiple countries, revealing exposure to exogenous mutagens including aristolochic acids and unknown agents prevalent in Japan.

This study identifies oncofetal reprogramming in juvenile myelomonocytic leukemia, linking RAS-pathway activation to fetal gene expression and revealing CD52 as a therapeutic target.

This study uses duplex sequencing to analyze platinum chemotherapy-induced mutagenesis in pediatric tissues, revealing extensive mutational signatures and tissue-specific effects.

This study uses single-cell transcriptomics to compare in vitro and in vivo chondrocyte differentiation, identifies off-target differentiation, and improves in vitro protocols by inhibiting FOXO1.

The paper identifies a spatiotemporal cancer cell trajectory in glioblastoma that explains tumor heterogeneity across regions and subclones.

The paper examines the transcriptional evolution of myeloid leukaemia in Down syndrome by analyzing single-cell RNA sequencing data from patient samples and fetal tissues.

The paper identifies second somatic NF1 mutations in normal tissues of neurofibromatosis type 1 patients through whole genome and exome sequencing, showing positive selection of truncating mutations in these tissues.

The paper traces the origin of four synchronous renal tumours in a child to an early embryonic MTOR mutation, showing its role in tumour development and clinical implications.

This study creates a developmental cell atlas of the human thyroid gland using single-cell sequencing, revealing cell type heterogeneity and its implications in thyroid disorders and cancer.

This study creates a cell atlas of human adrenal cortex development using multi-omics approaches, revealing key developmental processes and potential therapeutic implications.

The paper identifies cancer cells from single cell transcriptomes by using allelic imbalances to accurately separate cancer from non-cancer cells.

The paper maps the multi-organ functions of the human yolk sac during early development, revealing its roles in hematopoiesis, nutrition, and oxygen regulation.

The paper identifies a distinct developmental state in KMT2A-rearranged infant B-cell acute lymphoblastic leukemia using single-cell transcriptome analysis.

A multi-regional single-cell study of kidney tumours reveals clonotypic heterogeneity, immune cell exhaustion, and potential therapeutic targets through transcriptomic and exomic analysis.

This study uses single-cell RNA-sequencing to analyze fetal bone marrow development and identifies disruptions in hematopoiesis in Down syndrome.

This study uses whole genome sequencing of placental biopsies to show that human placentas exhibit clonal expansions, copy number changes, and developmental bottlenecks similar to childhood cancer.

SoupX removes ambient RNA contamination from droplet-based single-cell RNA sequencing data, improving biological interpretation and quality control.

This study identifies genomic and methylation patterns associated with benign metastases and malignant transformation in giant cell tumour of bone.

This study identifies germline genetic variants influencing somatic mutation patterns in 2,642 cancer genomes across 39 cancer types.

This study characterizes mitochondrial genomes in 2,700 cancer patients across 37 types using whole-genome sequencing and RNA-seq, revealing mutational patterns, truncating mutations, and nuclear transfer of mitochondrial DNA.

The paper uses single-cell transcriptomics to map hematopoiesis in human fetal liver, identifying cell differentiation trajectories and shifts in hematopoietic composition during development.

The paper identifies a novel synovial innate lymphoid cell (ILC) subtype associated with a specific type of childhood autoimmune arthritis, highlighting its role in inflammation and potential as a therapeutic target.

This study identifies two molecular subgroups of anaplastic meningioma with distinct survival outcomes and links them to specific genetic mutations.