Clinical evolution, genetic landscape and trajectories of clonal hematopoiesis in SAMD9/SAMD9L syndromes

Germline SAMD9L truncation variants trigger global translational repression

(2021) Eric J. Allenspach et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Pediatric MDS and bone marrow failure-associated germline mutations in SAMD9 and SAMD9L impair multiple pathways in primary hematopoietic cells

(2021) Melvin E. Thomas et al.   LEUKEMIA

Prevalence of germline GATA2 and SAMD9/9L variants in paediatric haematological disorders with monosomy 7

(2020) Masanori Yoshida et al.   BRITISH JOURNAL OF HAEMATOLOGY

A girl with MIRAGE syndrome who developed steroid-resistant nephrotic syndrome: a case report

(2020) Sho Ishiwa et al.   BMC Nephrology

Multiorgan failure with abnormal receptor metabolism in mice mimicking Samd9/9L syndromes

(2020) Akiko Nagamachi et al.   JOURNAL OF CLINICAL INVESTIGATION

A novel SAMD9 variant identified in patient with MIRAGE syndrome: Further defining syndromic phenotype and review of previous cases

(2019) Michael P. Perisa et al.   PEDIATRIC BLOOD & CANCER

A germline HLTF mutation in familial MDS induces DNA damage accumulation through impaired PCNA polyubiquitination

(2019) Kensuke Takaoka et al.   LEUKEMIA

A novel germline SAMD9L mutation in a family with ataxia-pancytopenia syndrome and pediatric acute lymphoblastic leukemia

(2019) Jesse J.C. Cheah et al.   HAEMATOLOGICA

Leukoencephalopathia, demyelinating peripheral neuropathy and dural ectasia explained by a not formerly described de novo mutation in the SAMD9L gene, ends 27 years of investigations – a case report

(2019) Sofia Thunström et al.   BMC Neurology

Outcomes of Hematopoietic Cell Transplantation in Patients with Germline SAMD9/SAMD9L Mutations

(2019) Ibrahim A. Ahmed et al.   BIOLOGY OF BLOOD AND MARROW TRANSPLANTATION

Somatic genetic rescue in Mendelian haematopoietic diseases

(2019) Patrick Revy et al.   NATURE REVIEWS GENETICS

A Rare Etiology of 46, XY Disorder of Sex Development and Adrenal Insufficiency: A case of MIRAGE syndrome caused by mutations in SAMD9 gene

(2019) Eda Mengen et al.   Journal of Clinical Research in Pediatric Endocrinology

Familial myeloid malignancies with germline TET2 mutation

(2019) Nicolas Duployez et al.   LEUKEMIA

Comprehensive Characterization of Cancer Driver Genes and Mutations

(2018) Matthew H. Bailey et al.   CELL

ClinGen’s RASopathy Expert Panel consensus methods for variant interpretation

(2018) Bruce D Gelb et al.   GENETICS IN MEDICINE

Gain of function mutation and inflammasome driven diseases in human and mouse models

(2018) Mario D. Cordero et al.   JOURNAL OF AUTOIMMUNITY

The landscape of genomic alterations across childhood cancers

(2018) Susanne N. Gröbner et al.   NATURE

A paralogous pair of mammalian host restriction factors form a critical host barrier against poxvirus infection

(2018) Xiangzhi Meng et al.   PLoS Pathogens

Pan-cancer genome and transcriptome analyses of 1,699 paediatric leukaemias and solid tumours

(2018) Xiaotu Ma et al.   NATURE

Somatic mosaic monosomy 7 and UPD7q in a child with MIRAGE syndrome caused by a novel SAMD9 mutation

(2018) Bernhard Csillag et al.   PEDIATRIC BLOOD & CANCER

MIRAGE syndrome is a rare cause of 46,XY DSD born SGA without adrenal insufficiency

(2018) Hirohito Shima et al.   PLoS One

Genetic defects in pediatric-onset adrenal insufficiency in Japan

(2017) Naoko Amano et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Sherloc: a comprehensive refinement of the ACMG–AMP variant classification criteria

(2017) Keith Nykamp et al.   GENETICS IN MEDICINE

Constitutional SAMD9L mutations cause familial myelodysplastic syndrome and transient monosomy 7

(2017) Victor B. Pastor et al.   HAEMATOLOGICA

Somatic mutations and progressive monosomy modify SAMD9-related phenotypes in humans

(2017) Federica Buonocore et al.   JOURNAL OF CLINICAL INVESTIGATION

Two patients with MIRAGE syndrome lacking haematological features: role of somatic second-site reversion SAMD9 mutations

(2017) Hirohito Shima et al.   JOURNAL OF MEDICAL GENETICS

Germline SAMD9 mutation in siblings with monosomy 7 and myelodysplastic syndrome

(2017) J R Schwartz et al.   LEUKEMIA

Prognostic Mutations in Myelodysplastic Syndrome after Stem-Cell Transplantation

(2017) R. Coleman Lindsley et al.   NEW ENGLAND JOURNAL OF MEDICINE

GATA2 deficiency and related myeloid neoplasms

(2017) Marcin W. Wlodarski et al.   SEMINARS IN HEMATOLOGY

An interaction domain in human SAMD9 is essential for myxoma virus host-range determinant M062 antagonism of host anti-viral function

(2017) Bernice Nounamo et al.   VIROLOGY

The genomic landscape of pediatric myelodysplastic syndromes

(2017) Jason R. Schwartz et al.   Nature Communications

Constitutional SAMD9L mutations cause familial myelodysplastic syndrome and transient monosomy 7

(2017) Victor B. Pastor et al.   HAEMATOLOGICA

Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9L

(2016) Dong-Hui Chen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants

(2016) Nilah M. Ioannidis et al.   AMERICAN JOURNAL OF HUMAN GENETICS

CADD score has limited clinical validity for the identification of pathogenic variants in noncoding regions in a hereditary cancer panel

(2016) Cheryl A. Mather et al.   GENETICS IN MEDICINE

dbNSFP v3.0: A One-Stop Database of Functional Predictions and Annotations for Human Nonsynonymous and Splice-Site SNVs

(2016) Xiaoming Liu et al.   HUMAN MUTATION

Mutational landscape in children with myelodysplastic syndromes is distinct from adults: specific somatic drivers and novel germline variants

(2016) V Pastor et al.   LEUKEMIA

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome and are associated with loss of chromosome 7

(2016) Satoshi Narumi et al.   NATURE GENETICS

An integrative approach to predicting the functional effects of non-coding and coding sequence variation

(2015) Hashem A. Shihab et al.   BIOINFORMATICS

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

Identification of cis-suppression of human disease mutations by comparative genomics

(2015) Daniel M. Jordan et al.   NATURE

Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy

(2015) Michael Y Zhang et al.   NATURE GENETICS

Structural basis for antagonizing a host restriction factor by C7 family of poxvirus host-range proteins

(2015) Xiangzhi Meng et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

miR-96 induces cisplatin chemoresistance in non-small cell lung cancer cells by downregulating SAMD9

(2015) LIN WU et al.   Oncology Letters

DANN: a deep learning approach for annotating the pathogenicity of genetic variants

(2014) Daniel Quang et al.   BIOINFORMATICS

SAMD9 Is an Innate Antiviral Host Factor with Stress Response Properties That Can Be Antagonized by Poxviruses

(2014) Jia Liu et al.   JOURNAL OF VIROLOGY

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

Clinical and biological implications of driver mutations in myelodysplastic syndromes

(2013) E. Papaemmanuil et al.   BLOOD

Evolution and divergence of the mammalian SAMD9/SAMD9L gene family

(2013) Ana Lemos de Matos et al.   BMC EVOLUTIONARY BIOLOGY

Haploinsufficiency of SAMD9L, an Endosome Fusion Facilitator, Causes Myeloid Malignancies in Mice Mimicking Human Diseases with Monosomy 7

(2013) Akiko Nagamachi et al.   CANCER CELL

High rate of mosaicism in individuals with Cornelia de Lange syndrome

(2013) Sylvia A Huisman et al.   JOURNAL OF MEDICAL GENETICS

The Samd9L Gene: Transcriptional Regulation and Tissue-Specific Expression in Mouse Development

(2011) Qiujie Jiang et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

M062 Is a Host Range Factor Essential for Myxoma Virus Pathogenesis and Functions as an Antagonist of Host SAMD9 in Human Cells

(2011) J. Liu et al.   JOURNAL OF VIROLOGY

Exome sequencing as a tool for Mendelian disease gene discovery

(2011) Michael J. Bamshad et al.   NATURE REVIEWS GENETICS

Predicting the functional impact of protein mutations: application to cancer genomics

(2011) Boris Reva et al.   NUCLEIC ACIDS RESEARCH

Complex karyotype newly defined: the strongest prognostic factor in advanced childhood myelodysplastic syndrome

(2010) G. Gohring et al.   BLOOD

Somatic gene mutation and human disease other than cancer: An update

(2010) Robert P. Erickson   MUTATION RESEARCH-REVIEWS IN MUTATION RESEARCH

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

MutationTaster evaluates disease-causing potential of sequence alterations

(2010) Jana Marie Schwarz et al.   NATURE METHODS

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH