(Q30235895)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28211564%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

title

The genomics of inherited bone marrow failure: from mechanism to the clinic (English)

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28211564%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

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2

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28211564%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

author name string

Talia Wegman-Ostrosky

series ordinal

1

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28211564%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

language of work or name

English

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publication date

17 February 2017

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28211564%20AND%20SRC:MED&resulttype=core&format=json

British Journal of Haematology

3 April 2020

published in

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28211564%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

volume

177

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28211564%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

page(s)

526-542

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28211564%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

issue

4

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Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome

3 April 2020

cites work

1 reference

Telomere phenotypes in females with heterozygous mutations in the dyskeratosis congenita 1 (DKC1) gene

21 January 2018

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Very short telomere length by flow fluorescence in situ hybridization identifies patients with dyskeratosis congenita

21 January 2018

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Telomere length is associated with disease severity and declines with age in dyskeratosis congenita

21 January 2018

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A novel Fanconi anaemia subtype associated with a dominant-negative mutation in RAD51

21 January 2018

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Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus

21 January 2018

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Fanconi anemia and its diagnosis

21 January 2018

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Mitotic spindle destabilization and genomic instability in Shwachman-Diamond syndrome

21 January 2018

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Emergence of clonal hematopoiesis in the majority of patients with acquired aplastic anemia.

21 January 2018

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Updates on the biology and management of dyskeratosis congenita and related telomere biology disorders

21 January 2018

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A recessive founder mutation in regulator of telomere elongation helicase 1, RTEL1, underlies severe immunodeficiency and features of Hoyeraal Hreidarsson syndrome

21 January 2018

1 reference

Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita

21 January 2018

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Congenital amegakaryocytic thrombocytopenia: clinical presentation, diagnosis, and treatment

21 January 2018

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c-mpl mutations are the cause of congenital amegakaryocytic thrombocytopenia

21 January 2018

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G-CSF and its receptor in myeloid malignancy

21 January 2018

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The molecular genetics of the telomere biology disorders

21 January 2018

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Genetic heterogeneity among Fanconi anemia heterozygotes and risk of cancer

21 January 2018

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A comprehensive functional characterization of BRCA2 variants associated with Fanconi anemia using mouse ES cell-based assay

21 January 2018

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Biallelic inactivation of REV7 is associated with Fanconi anemia

21 January 2018

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Mutations in SBDS are associated with Shwachman-Diamond syndrome

21 January 2018

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Upregulated LINE-1 Activity in the Fanconi Anemia Cancer Susceptibility Syndrome Leads to Spontaneous Pro-inflammatory Cytokine Production.

21 January 2018

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Telomeres in aging and disease: lessons from zebrafish

21 January 2018

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Massively parallel sequencing, aCGH, and RNA-Seq technologies provide a comprehensive molecular diagnosis of Fanconi anemia.

21 January 2018

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Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9L.

21 January 2018

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Detecting somatic mosaicism: considerations and clinical implications.

21 January 2018

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Haematopoietic and immune defects associated with GATA2 mutation

21 January 2018

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Coats' plus: a progressive familial syndrome of bilateral Coats' disease, characteristic cerebral calcification, leukoencephalopathy, slow pre- and post-natal linear growth and defects of bone marrow and integument.

21 January 2018

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Variants of uncertain significance in BRCA testing: evaluation of surgical decisions, risk perception, and cancer distress.

21 January 2018

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Ribosomopathies: how a common root can cause a tree of pathologies

21 January 2018

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The role of the DNA damage response in zebrafish and cellular models of Diamond Blackfan anemia.

21 January 2018

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DNA interstrand crosslink repair and cancer

21 January 2018

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Inherited mutations in the helicase RTEL1 cause telomere dysfunction and Hoyeraal-Hreidarsson syndrome

21 January 2018

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Clinical utility gene card for: Dyskeratosis congenita - update 2015.

21 January 2018

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Biallelic deleterious BRCA1 mutations in a woman with early-onset ovarian cancer

21 January 2018

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Erythrocyte adenosine deaminase: diagnostic value for Diamond-Blackfan anaemia

21 January 2018

1 reference

Abnormalities of the large ribosomal subunit protein, Rpl35a, in Diamond-Blackfan anemia

21 January 2018

1 reference

Ribosomal protein gene deletions in Diamond-Blackfan anemia.

21 January 2018

1 reference

Significance of myelodysplastic syndrome-associated somatic variants in the evaluation of patients with pancytopenia and idiopathic cytopenias of undetermined significance.

21 January 2018

1 reference

Uncoupling of GTP hydrolysis from eIF6 release on the ribosome causes Shwachman-Diamond syndrome

21 January 2018

1 reference

Long-term use of pegfilgrastim in children with severe congenital neutropenia: clinical and pharmacokinetic data.

21 January 2018

1 reference

GATA family transcriptional factors: emerging suspects in hematologic disorders

21 January 2018

1 reference

Why does the bone marrow fail in Fanconi anemia?

21 January 2018

1 reference

Congenital amegakaryocytic thrombocytopenia

21 January 2018

1 reference

Inherited thrombocytopenias: an approach to diagnosis and management

21 January 2018

1 reference

Improving diagnostic precision, care and syndrome definitions using comprehensive next-generation sequencing for the inherited bone marrow failure syndromes

21 January 2018

1 reference

Elevated erythrocyte adenosine deaminase activity in congenital hypoplastic anemia

21 January 2018

1 reference

Unraveling the pathogenesis of Hoyeraal-Hreidarsson syndrome, a complex telomere biology disorder

21 January 2018

1 reference

Acute myelogenous leukemia in an adult with thrombocytopenia with absent radii syndrome

21 January 2018

1 reference

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing

21 January 2018

1 reference

Somatic mosaicism in Fanconi anemia: evidence of genotypic reversion in lymphohematopoietic stem cells.

21 January 2018

1 reference

Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28

21 January 2018

1 reference

Inherited bone marrow failure associated with germline mutation of ACD, the gene encoding telomere protein TPP1.

21 January 2018

1 reference

A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment.

21 January 2018

1 reference

Telomeres shorten during ageing of human fibroblasts

21 January 2018

1 reference

X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions

21 January 2018

1 reference

Mutations in the gene encoding the E2 conjugating enzyme UBE2T cause Fanconi anemia

21 January 2018

1 reference

21 January 2018

1 reference

Shwachman-Bodian-Diamond syndrome (SBDS) protein deficiency impairs translation re-initiation from C/EBPα and C/EBPβ mRNAs

21 January 2018

1 reference

Revertant somatic mosaicism by mitotic recombination in dyskeratosis congenita.

21 January 2018

1 reference

Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemia

21 January 2018

1 reference

Genomic characterization of the inherited bone marrow failure syndromes

21 January 2018

1 reference

G6PC3 Deficiency: Primary Immune Deficiency Beyond Just Neutropenia

21 January 2018

1 reference

Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1

21 January 2018

1 reference

Hoyeraal-Hreidarsson syndrome caused by a germline mutation in the TEL patch of the telomere protein TPP1.

21 January 2018

1 reference

Somatic mutations identify a subgroup of aplastic anemia patients who progress to myelodysplastic syndrome.

21 January 2018

1 reference

Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia

21 January 2018

1 reference

Human RTEL1 deficiency causes Hoyeraal-Hreidarsson syndrome with short telomeres and genome instability

21 January 2018

1 reference

Diamond-Blackfan anemia: diagnosis, treatment, and molecular pathogenesis

21 January 2018

1 reference

Cellular response to DNA interstrand crosslinks: the Fanconi anemia pathway

21 January 2018

1 reference

Characterization of large structural genetic mosaicism in human autosome

21 January 2018

1 reference

Telomerase Regulation from Beginning to the End

21 January 2018

1 reference

Heterozygous telomerase RNA mutations found in dyskeratosis congenita and aplastic anemia reduce telomerase activity via haploinsufficiency

21 January 2018

1 reference

X-linked inheritance of Fanconi anemia complementation group B

21 January 2018

1 reference

Whole-exome sequencing and functional studies identify RPS29 as a novel gene mutated in multicase Diamond-Blackfan anemia families

21 January 2018

1 reference

A telomerase component is defective in the human disease dyskeratosis congenita

21 January 2018

1 reference

How the fanconi anemia pathway guards the genome

21 January 2018

1 reference

Hydroxyurea induces chromosomal damage in G2 and enhances the clastogenic effect of mitomycin C in Fanconi anemia cells

21 January 2018

1 reference

Molecular diagnosis of thrombocytopenia-absent radius syndrome using next-generation sequencing.

21 January 2018

1 reference

Mutations in MECOM, Encoding Oncoprotein EVI1, Cause Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia

21 January 2018

1 reference

Structure, dynamics, and RNA interaction analysis of the human SBDS protein

21 January 2018

1 reference

Telomere-associated aging disorders

21 January 2018

1 reference

How shelterin protects mammalian telomeres

21 January 2018

1 reference

Clonal hematopoiesis in patients with dyskeratosis congenita

21 January 2018

1 reference

Bilateral retinopathy, aplastic anaemia, and central nervous system abnormalities: a new syndrome?

21 January 2018

1 reference

Structure and function of the telomeric CST complex

21 January 2018

1 reference

Estimation of the prevalence of Fanconi anemia among patients with de novo acute myelogenous leukemia who have poor recovery from chemotherapy

21 January 2018

1 reference

Fanconi anemia cells with unrepaired DNA damage activate components of the checkpoint recovery process

21 January 2018

1 reference

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

21 January 2018

1 reference

Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia

21 January 2018

1 reference

Connecting complex disorders through biology.

21 January 2018

1 reference

TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita

21 January 2018

1 reference

Novel FANCI mutations in Fanconi anemia with VACTERL association.

21 January 2018

1 reference

Pathophysiology and management of inherited bone marrow failure syndromes

21 January 2018

1 reference

Mutations in STN1 cause Coats plus syndrome and are associated with genomic and telomere defects.

21 January 2018

1 reference

Current clinical management of Fanconi anemia

21 January 2018

1 reference

Mosaicism and clinical genetics

21 January 2018

1 reference

Loss-of-function mutations in the RNA biogenesis factor NAF1 predispose to pulmonary fibrosis-emphysema

21 January 2018

1 reference

Congenital amegakaryocytic thrombocytopenia-3 novel c-MPL mutations and their phenotypic correlations

21 January 2018

1 reference

Diamond Blackfan Anemia: A Nonclassical Patient With Diagnosis Assisted by Genomic Analysis

21 January 2018

1 reference

Dubowitz syndrome is a complex comprised of multiple, genetically distinct and phenotypically overlapping disorders

21 January 2018

1 reference

Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening

21 January 2018

1 reference

A POT1 mutation implicates defective telomere end fill-in and telomere truncations in Coats plus

21 January 2018

1 reference

Frequency and natural history of inherited bone marrow failure syndromes: the Israeli Inherited Bone Marrow Failure Registry.

21 January 2018

1 reference

ERCC6L2 mutations link a distinct bone-marrow-failure syndrome to DNA repair and mitochondrial function

21 January 2018

1 reference

DNAJC21 Mutations Link a Cancer-Prone Bone Marrow Failure Syndrome to Corruption in 60S Ribosome Subunit Maturation

21 January 2018

1 reference

Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference

21 January 2018

1 reference

Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failure

21 January 2018

1 reference

Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita

21 January 2018

1 reference

Somatic mosaicism in primary immune deficiencies

21 January 2018

1 reference

Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10

21 January 2018

1 reference

Exome sequencing identifies MPL as a causative gene in familial aplastic anemia

21 January 2018

1 reference

Constitutional mutations in RTEL1 cause severe dyskeratosis congenita

21 January 2018

1 reference

Marked overlap of four genetic syndromes with dyskeratosis congenita confounds clinical diagnosis

21 January 2018

1 reference

A Dominant Mutation in Human RAD51 Reveals Its Function in DNA Interstrand Crosslink Repair Independent of Homologous Recombination

21 January 2018

1 reference

Severe congenital neutropenia

21 January 2018

1 reference

Counseling Challenges with Variants of Uncertain Significance and Incidental Findings in Prenatal Genetic Screening and Diagnosis

21 January 2018

1 reference

Phenotypes and genotypes of the chromosomal instability syndromes

21 January 2018

1 reference

Investigation of chromosome X inactivation and clinical phenotypes in female carriers of DKC1 mutations

21 January 2018

1 reference

Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia

21 January 2018

1 reference

Ribosomopathies: Global process, tissue specific defects

21 January 2018

1 reference

Somatic Mutations and Clonal Hematopoiesis in Aplastic Anemia

21 January 2018

1 reference

Molecular pathology of myelodysplastic syndromes: new developments and implications for diagnosis and treatment

21 January 2018

1 reference

Genetic counseling for Fanconi anemia: crosslinking disciplines.

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1111/BJH.14535

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28211564%20AND%20SRC:MED&resulttype=core&format=json

3 April 2020

1 reference