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Title
A de novo paradigm for male infertility
Authors
Keywords
-
Journal
Nature Communications
Volume 13, Issue 1, Pages -
Publisher
Springer Science and Business Media LLC
Online
2022-01-10
DOI
10.1038/s41467-021-27132-8
References
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- (2020) Alex M. Kasman et al. FERTILITY AND STERILITY
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- A genomics approach to male infertility
- (2020) Naif Alhathal et al. GENETICS IN MEDICINE
- Evidence for 28 genetic disorders discovered by combining healthcare and research data
- (2020) Joanna Kaplanis et al. NATURE
- De novo mutations in idiopathic male infertility ‐ a pilot study
- (2020) A. Hodžić et al. Andrology
- A systematic review and standardized clinical validity assessment of male infertility genes
- (2019) Manon S Oud et al. HUMAN REPRODUCTION
- The present crisis in male reproductive health: an urgent need for a political, social, and research roadmap
- (2019) Christopher De Jonge et al. Andrology
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- (2019) Alejandro J. Brea-Fernández et al. JOURNAL OF HUMAN GENETICS
- SYCP2 Translocation-Mediated Dysregulation and Frameshift Variants Cause Human Male Infertility
- (2019) Samantha L.P. Schilit et al. AMERICAN JOURNAL OF HUMAN GENETICS
- AnnotSV: an integrated tool for structural variations annotation
- (2018) Véronique Geoffroy et al. BIOINFORMATICS
- De novo FBXO11 mutations are associated with intellectual disability and behavioural anomalies
- (2018) Daniel Fritzen et al. HUMAN GENETICS
- Genetics of male infertility
- (2018) Csilla Krausz et al. Nature Reviews Urology
- Cstf2t Regulates expression of histones and histone-like proteins in male germ cells
- (2018) P. N. Grozdanov et al. Andrology
- Single-Cell RNA Sequencing Analysis Reveals Sequential Cell Fate Transition during Human Spermatogenesis
- (2018) Mei Wang et al. Cell Stem Cell
- The adult human testis transcriptional cell atlas
- (2018) Jingtao Guo et al. CELL RESEARCH
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- (2017) Patrick D. Brophy et al. GENETICS
- Parental influence on human germline de novo mutations in 1,548 trios from Iceland
- (2017) Hákon Jónsson et al. NATURE
- In vivo evidence that RBM5 is a tumour suppressor in the lung
- (2017) Duangporn Jamsai et al. Scientific Reports
- A Gene Implicated in Activation of Retinoic Acid Receptor Targets Is a Novel Renal Agenesis Gene in Humans
- (2017) Patrick D. Brophy et al. GENETICS
- Analysis of protein-coding genetic variation in 60,706 humans
- (2016) Monkol Lek et al. NATURE
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- (2016) Jakob M Goldmann et al. NATURE GENETICS
- Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability
- (2016) Stefan H Lelieveld et al. NATURE NEUROSCIENCE
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- (2016) Damian Szklarczyk et al. NUCLEIC ACIDS RESEARCH
- Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study
- (2016) Frederick E. Dewey et al. SCIENCE
- The Transcriptome and DNA Methylome Landscapes of Human Primordial Germ Cells
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- (2015) Alix Luangpraseuth-Prosper et al. DEVELOPMENTAL BIOLOGY
- Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
- (2015) Sue Richards et al. GENETICS IN MEDICINE
- Genome-wide patterns and properties of de novo mutations in humans
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- Timing, rates and spectra of human germline mutation
- (2015) Raheleh Rahbari et al. NATURE GENETICS
- SIFT missense predictions for genomes
- (2015) Robert Vaser et al. Nature Protocols
- Genetic studies in intellectual disability and related disorders
- (2015) Lisenka E. L. M. Vissers et al. NATURE REVIEWS GENETICS
- Tissue-based map of the human proteome
- (2015) M. Uhlen et al. SCIENCE
- A framework for the interpretation of de novo mutation in human disease
- (2014) Kaitlin E Samocha et al. NATURE GENETICS
- A novel Alu-mediated microdeletion at 11p13 removes WT1 in a patient with cryptorchidism and azoospermia
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- (2012) Hong Liang et al. JOURNAL OF EXPERIMENTAL & CLINICAL CANCER RESEARCH
- HnRNPL as a key factor in spermatogenesis: Lesson from functional proteomic studies of azoospermia patients with sertoli cell only syndrome
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- Germ Cell Intercellular Bridges
- (2011) M. P. Greenbaum et al. Cold Spring Harbor Perspectives in Biology
- Fast and accurate long-read alignment with Burrows–Wheeler transform
- (2010) Heng Li et al. BIOINFORMATICS
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