Analysis of overlapping heterozygous novel submicroscopic CNVs and FANCA–VPS9D1 fusion transcripts in a Fanconi anemia patient

Predicting human genes susceptible to genomic instability associated withAlu/Alu-mediated rearrangements

(2018) Xiaofei Song et al.   GENOME RESEARCH

tmap: Thematic Maps in R

(2018) Martijn Tennekes   Journal of Statistical Software

Whole-genome sequencing analysis of CNV using low-coverage and paired-end strategies is efficient and outperforms array-based CNV analysis

(2018) Bo Zhou et al.   JOURNAL OF MEDICAL GENETICS

Alu insertion variants alter mRNA splicing

(2018) Lindsay M Payer et al.   NUCLEIC ACIDS RESEARCH

A comprehensive approach to identification of pathogenic FANCA variants in Fanconi anemia patients and their families

(2017) Danielle C. Kimble et al.   HUMAN MUTATION

Development and validation of a comprehensive genomic diagnostic tool for myeloid malignancies

(2016) Thomas McKerrell et al.   BLOOD

Concurrent detection of targeted copy number variants and mutations using a myeloid malignancy next generation sequencing panel allows comprehensive genetic analysis using a single testing strategy

(2016) Wei Shen et al.   BRITISH JOURNAL OF HAEMATOLOGY

Low-pass whole-genome sequencing in clinical cytogenetics: a validated approach

(2016) Zirui Dong et al.   GENETICS IN MEDICINE

GROM-RD: resolving genomic biases to improve read depth detection of copy number variants

(2015) Sean D. Smith et al.   PeerJ

Multi-factor data normalization enables the detection of copy number aberrations in amplicon sequencing data

(2014) Valentina Boeva et al.   BIOINFORMATICS

LUMPY: a probabilistic framework for structural variant discovery

(2014) Ryan M Layer et al.   GENOME BIOLOGY

DELLY: structural variant discovery by integrated paired-end and split-read analysis

(2012) T. Rausch et al.   BIOINFORMATICS

How high are carrier frequencies of rare recessive syndromes? Contemporary estimates for Fanconi Anemia in the United States and Israel

(2011) Philip S. Rosenberg et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Exonization of transposed elements: A challenge and opportunity for evolution

(2011) Jürgen Schmitz et al.   BIOCHIMIE

Origin, functional role, and clinical impact of Fanconi anemia FANCA mutations

(2011) M. Castella et al.   BLOOD

CNVnator: An approach to discover, genotype, and characterize typical and atypical CNVs from family and population genome sequencing

(2011) A. Abyzov et al.   GENOME RESEARCH

Beyond DNA: RNA Editing and Steps Toward Alu Exonization in Primates

(2008) Maren Möller-Krull et al.   JOURNAL OF MOLECULAR BIOLOGY