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De novo mutations of SETBP1 cause Schinzel-Giedion syndrome
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What this work says
Outgoing claims: the papers this work cites, builds on, or argues with.
inferredcites →https://doi.org/10.1002/ajmg.10348openalex-snapshot
Further clinical and sensorial delineation of Schinzel‐Giedion syndrome: Report of two cases
inferredcites →https://doi.org/10.1002/ajmg.1320010402openalex-snapshot
A syndrome of severe midface retraction, multiple skull anomalies, clubfeet, and cardiac and renal malformations in sibs
inferredcites →https://doi.org/10.1002/ajmg.a.32267openalex-snapshot
Delineation of a critical region on chromosome 18 for the del(18)(q12.2q21.1) syndrome
inferredcites →https://doi.org/10.1002/ajmg.a.32277openalex-snapshot
Schinzel–Giedion syndrome: Report of splenopancreatic fusion and proposed diagnostic criteria
inferredcites →https://doi.org/10.1002/humu.21221openalex-snapshot
Massively parallel sequencing of ataxia genes after array-based enrichment
inferredcites →https://doi.org/10.1016/s0021-9258(19)38509-6openalex-snapshot
Chick cartilage chondroitin sulfate proteoglycan core protein. I. Generation and characterization of peptides and specificity for glycosaminoglycan attachment.
inferredcites →https://doi.org/10.1016/s0378-1119(02)00401-8openalex-snapshot
SET-domain proteins of the Su(var)3-9, E(z) and Trithorax families
inferredcites →https://doi.org/10.1038/nature08250openalex-snapshot
Targeted capture and massively parallel sequencing of 12 human exomes
inferredcites →https://doi.org/10.1038/ng.499openalex-snapshot
Exome sequencing identifies the cause of a mendelian disorder
inferredcites →https://doi.org/10.1038/ng1407openalex-snapshot
Mutations in a new member of the chromodomain gene family cause CHARGE syndrome
inferredcites →https://doi.org/10.1042/bj2710243openalex-snapshot
There are two major types of skeletal keratan sulphates
inferredcites →https://doi.org/10.1046/j.1432-1327.2001.02000.xopenalex-snapshot
Identification and characterization of SEB, a novel protein that binds to the acute undifferentiated leukemia‐associated protein SET
inferredcites →https://doi.org/10.1073/pnas.0400782101openalex-snapshot
A gene atlas of the mouse and human protein-encoding transcriptomes
inferredcites →https://doi.org/10.1111/j.1365-2141.2006.06410.xopenalex-snapshot
Fusion of NUP98 and the SET binding protein 1 (SETBP1) gene in a paediatric acute T cell lymphoblastic leukaemia with t(11;18)(p15;q12)
inferredcites →https://doi.org/10.1146/annurev.genom.6.080604.162305openalex-snapshot
NOONAN SYNDROME AND RELATED DISORDERS: Genetics and Pathogenesis
What points at this work
Incoming claims: where this work appears in other papers’ reference lists and arguments.
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De Novo Mutations Promote Inflammation in Children with Stat3 Gain-of-Functionsyndrome by Affecting Il-1β Expression
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inferred← citeshttps://doi.org/10.1001/archophthalmol.2011.264openalex-snapshot
Error in Abstract in: Prolonged Pursuit by Optokinetic Drum Testing in Asymptomatic Female Carriers of Novel FRMD7 Splice Mutation c.1050 +5 G>A
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inferred← citeshttps://doi.org/10.1002/ajmg.a.36789openalex-snapshot
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inferred← citeshttps://doi.org/10.1002/ajmg.a.37423openalex-snapshot
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inferred← citeshttps://doi.org/10.1002/ajmg.a.61630openalex-snapshot
A pathogenic variant in the SETBP1 hotspot results in a forme‐fruste Schinzel–Giedion syndrome
inferred← citeshttps://doi.org/10.1002/ajmg.a.64015openalex-snapshot
International Expert Opinion on Standard of Care for Patients With Schinzel‐Giedion Syndrome: A Modified Delphi Study
inferred← citeshttps://doi.org/10.1002/ana.22235openalex-snapshot
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inferred← citeshttps://doi.org/10.1002/ccr3.243openalex-snapshot
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inferred← citeshttps://doi.org/10.1002/ccr3.7308openalex-snapshot
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inferred← citeshttps://doi.org/10.1002/ccr3.738openalex-snapshot
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inferred← citeshttps://doi.org/10.1002/em.21799openalex-snapshot
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inferred← citeshttps://doi.org/10.1002/humu.21416openalex-snapshot
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inferred← citeshttps://doi.org/10.1002/humu.21443openalex-snapshot
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inferred← citeshttps://doi.org/10.1002/humu.22024openalex-snapshot
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inferred← citeshttps://doi.org/10.1002/humu.22033openalex-snapshot
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inferred← citeshttps://doi.org/10.1002/humu.22035openalex-snapshot
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inferred← citeshttps://doi.org/10.1002/humu.22045openalex-snapshot
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inferred← citeshttps://doi.org/10.1002/humu.22096openalex-snapshot
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inferred← citeshttps://doi.org/10.1002/humu.22143openalex-snapshot
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inferred← citeshttps://doi.org/10.1002/humu.22332openalex-snapshot
Targeted Next-Generation Sequencing can Replace Sanger Sequencing in Clinical Diagnostics
inferred← citeshttps://doi.org/10.1002/humu.22450openalex-snapshot
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inferred← citeshttps://doi.org/10.1002/humu.22520openalex-snapshot
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inferred← citeshttps://doi.org/10.1002/humu.22711openalex-snapshot
MAP4-Dependent Regulation of Microtubule Formation Affects Centrosome, Cilia, and Golgi Architecture as a Central Mechanism in Growth Regulation
inferred← citeshttps://doi.org/10.1002/humu.22819openalex-snapshot
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inferred← citeshttps://doi.org/10.1002/humu.23210openalex-snapshot
Mutation in mitochondrial complex IV subunit COX5A causes pulmonary arterial hypertension, lactic acidemia, and failure to thrive
inferred← citeshttps://doi.org/10.1002/humu.23413openalex-snapshot
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inferred← citeshttps://doi.org/10.1002/mds.23557openalex-snapshot
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inferred← citeshttps://doi.org/10.1002/pbc.31491openalex-snapshot
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inferred← citeshttps://doi.org/10.1002/wnan.1554openalex-snapshot
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inferred← citeshttps://doi.org/10.1007/978-1-4614-9032-6_8openalex-snapshot
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inferred← citeshttps://doi.org/10.1007/978-1-4939-0354-2_2openalex-snapshot
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inferred← citeshttps://doi.org/10.1007/978-1-4939-0727-4_14openalex-snapshot
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inferred← citeshttps://doi.org/10.1007/978-1-61779-176-5_7openalex-snapshot
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inferred← citeshttps://doi.org/10.1007/978-1-62703-080-9_1openalex-snapshot
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inferred← citeshttps://doi.org/10.1007/978-1-62703-290-2_14openalex-snapshot
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inferred← citeshttps://doi.org/10.1007/978-1-62703-435-7_8openalex-snapshot
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inferred← citeshttps://doi.org/10.1007/978-1-908517-90-6_10openalex-snapshot
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inferred← citeshttps://doi.org/10.1007/978-3-031-75790-7_2openalex-snapshot
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inferred← citeshttps://doi.org/10.1007/978-3-319-96830-8_15openalex-snapshot
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inferred← citeshttps://doi.org/10.1007/978-94-007-5149-1_16openalex-snapshot
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inferred← citeshttps://doi.org/10.1007/978-981-10-1104-7_16openalex-snapshot
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inferred← citeshttps://doi.org/10.1007/978-981-16-9720-3_3openalex-snapshot
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inferred← citeshttps://doi.org/10.1007/s00381-013-2047-2openalex-snapshot
Distinct neurological features in a patient with Schinzel–Giedion syndrome caused by a recurrent SETBP1 mutation
inferred← citeshttps://doi.org/10.1007/s00432-017-2518-zopenalex-snapshot
Only SETBP1 hotspot mutations are associated with refractory disease in myeloid malignancies
inferred← citeshttps://doi.org/10.1007/s00439-011-0964-2openalex-snapshot
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inferred← citeshttps://doi.org/10.1007/s00439-011-1001-1openalex-snapshot
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inferred← citeshttps://doi.org/10.1007/s00439-011-1004-yopenalex-snapshot
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inferred← citeshttps://doi.org/10.1007/s00439-013-1303-6openalex-snapshot
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inferred← citeshttps://doi.org/10.1007/s00439-018-1960-6openalex-snapshot
Chromosome 18 gene dosage map 2.0
inferred← citeshttps://doi.org/10.1007/s10048-012-0351-8openalex-snapshot
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inferred← citeshttps://doi.org/10.1007/s10048-025-00846-3openalex-snapshot
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inferred← citeshttps://doi.org/10.1007/s10162-026-01044-0openalex-snapshot
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inferred← citeshttps://doi.org/10.1007/s11060-013-1276-2openalex-snapshot
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inferred← citeshttps://doi.org/10.1007/s11427-013-4441-0openalex-snapshot
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inferred← citeshttps://doi.org/10.1007/s11684-014-0303-9openalex-snapshot
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inferred← citeshttps://doi.org/10.1007/s11825-012-0313-4openalex-snapshot
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inferred← citeshttps://doi.org/10.1007/s11825-014-0447-7openalex-snapshot
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inferred← citeshttps://doi.org/10.1007/s11825-019-0240-8openalex-snapshot
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inferred← citeshttps://doi.org/10.1007/s11899-016-0350-1openalex-snapshot
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inferred← citeshttps://doi.org/10.1007/s12031-018-1235-7openalex-snapshot
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inferred← citeshttps://doi.org/10.1007/s12041-016-0696-0openalex-snapshot
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inferred← citeshttps://doi.org/10.1007/s12041-017-0877-5openalex-snapshot
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inferred← citeshttps://doi.org/10.1007/s12041-021-01354-7openalex-snapshot
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inferred← citeshttps://doi.org/10.1007/s12185-014-1670-3openalex-snapshot
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inferred← citeshttps://doi.org/10.1007/s12185-017-2241-1openalex-snapshot
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inferred← citeshttps://doi.org/10.1007/s12414-011-0078-8openalex-snapshot
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inferred← citeshttps://doi.org/10.1007/s12456-014-0005-xopenalex-snapshot
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inferred← citeshttps://doi.org/10.1007/s12687-021-00514-7openalex-snapshot
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inferred← citeshttps://doi.org/10.1007/s13353-016-0376-zopenalex-snapshot
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inferred← citeshttps://doi.org/10.1007/s13631-014-0066-yopenalex-snapshot
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inferred← citeshttps://doi.org/10.1007/s40124-014-0039-7openalex-snapshot
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inferred← citeshttps://doi.org/10.1007/s40291-020-00495-2openalex-snapshot
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inferred← citeshttps://doi.org/10.1007/s40484-013-0009-zopenalex-snapshot
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inferred← citeshttps://doi.org/10.1007/s40995-025-01827-9openalex-snapshot
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inferred← citeshttps://doi.org/10.1016/b978-0-12-382227-7.00009-4openalex-snapshot
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inferred← citeshttps://doi.org/10.1016/b978-0-12-383834-6.00052-5openalex-snapshot
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inferred← citeshttps://doi.org/10.1016/b978-0-12-383834-6.00168-3openalex-snapshot
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inferred← citeshttps://doi.org/10.1016/b978-0-12-383834-6.00182-8openalex-snapshot
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inferred← citeshttps://doi.org/10.1016/b978-0-12-394287-6.00001-xopenalex-snapshot
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inferred← citeshttps://doi.org/10.1016/b978-0-12-394287-6.00002-1openalex-snapshot
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inferred← citeshttps://doi.org/10.1016/b978-0-12-404599-6.00002-0openalex-snapshot
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inferred← citeshttps://doi.org/10.1016/b978-0-12-410529-4.00001-2openalex-snapshot
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inferred← citeshttps://doi.org/10.1016/b978-0-12-801238-3.05632-4openalex-snapshot
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inferred← citeshttps://doi.org/10.1016/b978-0-12-801739-5.00006-4openalex-snapshot
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inferred← citeshttps://doi.org/10.1016/b978-0-12-801739-5.00007-6openalex-snapshot
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inferred← citeshttps://doi.org/10.1016/b978-0-12-809633-8.20094-0openalex-snapshot
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inferred← citeshttps://doi.org/10.1016/b978-0-12-812531-1.00006-3openalex-snapshot
Inherited Disorders of the Hair
inferred← citeshttps://doi.org/10.1016/b978-0-12-814037-6.00003-3openalex-snapshot
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inferred← citeshttps://doi.org/10.1016/b978-0-7020-5193-7.00025-xopenalex-snapshot
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inferred← citeshttps://doi.org/10.1016/b978-1-4557-3811-3.00034-8openalex-snapshot
10.1016/b978-1-4557-3811-3.00034-8
inferred← citeshttps://doi.org/10.1016/j.abb.2012.09.011openalex-snapshot
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inferred← citeshttps://doi.org/10.1016/j.ajhg.2010.08.004openalex-snapshot
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inferred← citeshttps://doi.org/10.1016/j.ajhg.2010.10.015openalex-snapshot
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inferred← citeshttps://doi.org/10.1016/j.ajhg.2011.01.015openalex-snapshot
Exome Sequencing Identifies Truncating Mutations in Human SERPINF1 in Autosomal-Recessive Osteogenesis Imperfecta
inferred← citeshttps://doi.org/10.1016/j.ajhg.2011.04.002openalex-snapshot
Chondrodysplasia and Abnormal Joint Development Associated with Mutations in IMPAD1, Encoding the Golgi-Resident Nucleotide Phosphatase, gPAPP
inferred← citeshttps://doi.org/10.1016/j.ajhg.2011.04.005openalex-snapshot
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inferred← citeshttps://doi.org/10.1016/j.ajhg.2011.11.024openalex-snapshot
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inferred← citeshttps://doi.org/10.1016/j.ajhg.2012.04.014openalex-snapshot
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inferred← citeshttps://doi.org/10.1016/j.ajhg.2012.08.014openalex-snapshot
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inferred← citeshttps://doi.org/10.1016/j.ajhg.2013.01.007openalex-snapshot
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inferred← citeshttps://doi.org/10.1016/j.ajhg.2013.03.023openalex-snapshot
Mutations in ANTXR1 Cause GAPO Syndrome
inferred← citeshttps://doi.org/10.1016/j.ajhg.2013.04.011openalex-snapshot
Mutations in BICD2, which Encodes a Golgin and Important Motor Adaptor, Cause Congenital Autosomal-Dominant Spinal Muscular Atrophy
inferred← citeshttps://doi.org/10.1016/j.ajhg.2014.01.016openalex-snapshot
Exome-Based Mapping and Variant Prioritization for Inherited Mendelian Disorders
inferred← citeshttps://doi.org/10.1016/j.ajhg.2015.05.008openalex-snapshot
Post-zygotic Point Mutations Are an Underrecognized Source of De Novo Genomic Variation
inferred← citeshttps://doi.org/10.1016/j.ajhg.2017.01.013openalex-snapshot
Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome
inferred← citeshttps://doi.org/10.1016/j.ajhg.2017.02.005openalex-snapshot
De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome
inferred← citeshttps://doi.org/10.1016/j.ajhg.2017.08.004openalex-snapshot
Spatial Clustering of de Novo Missense Mutations Identifies Candidate Neurodevelopmental Disorder-Associated Genes
inferred← citeshttps://doi.org/10.1016/j.ajhg.2017.09.018openalex-snapshot
Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations
inferred← citeshttps://doi.org/10.1016/j.ajhg.2023.03.017openalex-snapshot
De novo variants implicate chromatin modification, transcriptional regulation, and retinoic acid signaling in syndromic craniosynostosis
inferred← citeshttps://doi.org/10.1016/j.anpedi.2014.06.017openalex-snapshot
Síndrome Schinzel-Giedion: nueva mutación en SETBP1
inferred← citeshttps://doi.org/10.1016/j.bbadis.2014.06.015openalex-snapshot
Next generation sequencing technology: Advances and applications
inferred← citeshttps://doi.org/10.1016/j.bone.2013.11.014openalex-snapshot
Exome sequencing identifies CTSK mutations in patients originally diagnosed as intermediate osteopetrosis
inferred← citeshttps://doi.org/10.1016/j.bpsgos.2025.100666openalex-snapshot
Behavioral and Prefrontal Circuit Deficits in a Newly Developed Setbp1 Haploinsufficiency Mouse Model
inferred← citeshttps://doi.org/10.1016/j.braindev.2011.03.010openalex-snapshot
Schinzel–Giedion syndrome: A further cause of early myoclonic encephalopathy and vacuolating myelinopathy
inferred← citeshttps://doi.org/10.1016/j.cca.2025.120161openalex-snapshot
Quality management, ethical considerations, and emerging challenges in genomics and biobanking: A comprehensive review
inferred← citeshttps://doi.org/10.1016/j.cell.2011.09.008openalex-snapshot
Clan Genomics and the Complex Architecture of Human Disease
inferred← citeshttps://doi.org/10.1016/j.cell.2013.09.006openalex-snapshot
The Next-Generation Sequencing Revolution and Its Impact on Genomics
inferred← citeshttps://doi.org/10.1016/j.cell.2019.02.003openalex-snapshot
Genomic Medicine–Progress, Pitfalls, and Promise
inferred← citeshttps://doi.org/10.1016/j.clineuro.2012.09.030openalex-snapshot
Next generation sequencing for neurological diseases: New hope or new hype?
inferred← citeshttps://doi.org/10.1016/j.clml.2014.06.095openalex-snapshot
Clinical Implications of the SETBP1 Mutation in Patients With Primary Myelodysplastic Syndrome and its Stability During Disease Progression
inferred← citeshttps://doi.org/10.1016/j.drudis.2017.10.009openalex-snapshot
Computational drug repositioning for rare diseases in the era of precision medicine
inferred← citeshttps://doi.org/10.1016/j.ejmg.2011.09.002openalex-snapshot
Primary pulmonary hypertension, congenital heart defect, central nervous system malformations, hypo- and aplastic toes: Another case of Yunis-Varón syndrome or report of a new entity
inferred← citeshttps://doi.org/10.1016/j.ejmg.2012.01.005openalex-snapshot
372 kb microdeletion in 18q12.3 causing SETBP1 haploinsufficiency associated with mild mental retardation and expressive speech impairment
inferred← citeshttps://doi.org/10.1016/j.ejmg.2015.05.006openalex-snapshot
Progressive brain atrophy in Schinzel–Giedion syndrome with a SETBP1 mutation
inferred← citeshttps://doi.org/10.1016/j.ejmg.2015.07.004openalex-snapshot
Long term follow up of two independent patients with Schinzel–Giedion carrying SETBP1 mutations
inferred← citeshttps://doi.org/10.1016/j.ejmg.2016.09.008openalex-snapshot
7p22.1 microdeletions involving ACTB associated with developmental delay, short stature, and microcephaly
inferred← citeshttps://doi.org/10.1016/j.ejmg.2018.09.011openalex-snapshot
Biallelic TOR1A mutations cause severe arthrogryposis: A case requiring reverse phenotyping
inferred← citeshttps://doi.org/10.1016/j.ejpn.2023.10.006openalex-snapshot
Yield of exome sequencing in patients with developmental and epileptic encephalopathies and inconclusive targeted gene panel
inferred← citeshttps://doi.org/10.1016/j.envint.2015.12.021openalex-snapshot
Environmental factors in the development of autism spectrum disorders
inferred← citeshttps://doi.org/10.1016/j.envres.2015.08.025openalex-snapshot
Environmental factors may contribute to autism development and male bias: Effects of fragrances on developing neurons
inferred← citeshttps://doi.org/10.1016/j.exer.2011.08.007openalex-snapshot
Molecular genetics in glaucoma
inferred← citeshttps://doi.org/10.1016/j.forsciint.2010.07.015openalex-snapshot
New technologies in the genetic approach to sudden cardiac death in the young
inferred← citeshttps://doi.org/10.1016/j.gde.2013.01.007openalex-snapshot
Point mutations as a source of de novo genetic disease
inferred← citeshttps://doi.org/10.1016/j.gde.2013.05.004openalex-snapshot
Congenital heart disease: emerging themes linking genetics and development
inferred← citeshttps://doi.org/10.1016/j.gene.2011.12.042openalex-snapshot
High resolution array in the clinical approach to chromosomal phenotypes
inferred← citeshttps://doi.org/10.1016/j.gpeds.2023.100124openalex-snapshot
Schinzel-Giedion syndrome: a rare cause of psychomotor delay and refractory seizures
inferred← citeshttps://doi.org/10.1016/j.heares.2012.01.004openalex-snapshot
Applications of targeted gene capture and next-generation sequencing technologies in studies of human deafness and other genetic disabilities
inferred← citeshttps://doi.org/10.1016/j.ijporl.2017.11.020openalex-snapshot
Identification of two novel pathogenic compound heterozygous MYO7A mutations in Usher syndrome by whole exome sequencing
inferred← citeshttps://doi.org/10.1016/j.intell.2014.12.001openalex-snapshot
Mendelian and polygenic inheritance of intelligence: A common set of causal genes? Using next-generation sequencing to examine the effects of 168 intellectual disability genes on normal-range intelligence
inferred← citeshttps://doi.org/10.1016/j.intimp.2024.112755openalex-snapshot
De novo mutations promote inflammation in children with STAT3 gain-of-function syndrome by affecting IL-1β expression
inferred← citeshttps://doi.org/10.1016/j.jacc.2016.07.729openalex-snapshot
52 Genetic Loci Influencing Myocardial Mass
inferred← citeshttps://doi.org/10.1016/j.jaci.2013.02.012openalex-snapshot
Whole-exome sequencing links caspase recruitment domain 11 (CARD11) inactivation to severe combined immunodeficiency
inferred← citeshttps://doi.org/10.1016/j.jpainsymman.2010.08.009openalex-snapshot
Progress in Genomic Technology: A New Challenge for the Palliative Medicine?
inferred← citeshttps://doi.org/10.1016/j.jpedsurg.2021.08.008openalex-snapshot
Pediatric solid tumors and associated cancer predisposition syndromes: Workup, management, and surveillance. A summary from the APSA Cancer Committee
inferred← citeshttps://doi.org/10.1016/j.leukres.2014.10.006openalex-snapshot
The molecular basis and clinical significance of genetic mutations identified in myelodysplastic syndromes
inferred← citeshttps://doi.org/10.1016/j.lungcan.2018.04.008openalex-snapshot
Genomic alterations of plasma cell-free DNAs in small cell lung cancer and their clinical relevance
inferred← citeshttps://doi.org/10.1016/j.mehy.2013.03.014openalex-snapshot
Role of perfumes in pathogenesis of Autism
inferred← citeshttps://doi.org/10.1016/j.mrgentox.2016.09.009openalex-snapshot
Dose-dependent de novo germline mutations detected by whole-exome sequencing in progeny of ENU-treated male gpt delta mice
inferred← citeshttps://doi.org/10.1016/j.neubiorev.2014.01.013openalex-snapshot
Drosophila models of early onset cognitive disorders and their clinical applications
inferred← citeshttps://doi.org/10.1016/j.neuropsychologia.2018.07.015openalex-snapshot
Common variation within the SETBP1 gene is associated with reading-related skills and patterns of functional neural activation
inferred← citeshttps://doi.org/10.1016/j.prp.2018.03.010openalex-snapshot
SETBP1 mutations in Chinese patients with acute myeloid leukemia and myelodysplastic syndrome
inferred← citeshttps://doi.org/10.1016/j.tins.2013.11.005openalex-snapshot
A de novo convergence of autism genetics and molecular neuroscience
inferred← citeshttps://doi.org/10.1016/j.tjog.2017.10.027openalex-snapshot
Prenatal diagnosis and molecular cytogenetic characterization of an interstitial deletion of 18q12.1-q12.3 encompassing DTNA, CELF4 and SETBP1
inferred← citeshttps://doi.org/10.1016/j.ydbio.2013.05.019openalex-snapshot
Contribution of rare and common variants determine complex diseases—Hirschsprung disease as a model
inferred← citeshttps://doi.org/10.1016/j.ymgme.2016.12.005openalex-snapshot
Mutations in mitochondrial complex I assembly factor NDUFAF3 cause Leigh syndrome
inferred← citeshttps://doi.org/10.1016/s0140-6736(12)61480-9openalex-snapshot
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study
inferred← citeshttps://doi.org/10.1016/s1474-4422(11)70196-xopenalex-snapshot
Exome sequencing: a transformative technology
inferred← citeshttps://doi.org/10.1017/cbo9781107337459.017openalex-snapshot
Next-generation sequencing for rare diseases
inferred← citeshttps://doi.org/10.1017/s0016672315000166openalex-snapshot
The long tail and rare disease research: the impact of next-generation sequencing for rare Mendelian disorders
inferred← citeshttps://doi.org/10.1038/clpt.2012.51openalex-snapshot
Whole-Genome Sequencing in Personalized Therapeutics
inferred← citeshttps://doi.org/10.1038/cr.2014.77openalex-snapshot
De novo mutation in ATP6V1B2 impairs lysosome acidification and causes dominant deafness-onychodystrophy syndrome
inferred← citeshttps://doi.org/10.1038/ejhg.2011.258openalex-snapshot
Disease gene identification strategies for exome sequencing
inferred← citeshttps://doi.org/10.1038/ejhg.2014.279openalex-snapshot
Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects
inferred← citeshttps://doi.org/10.1038/jhg.2012.81openalex-snapshot
NDesign: software for study design for the detection of rare variants from next-generation sequencing data
inferred← citeshttps://doi.org/10.1038/jhg.2012.91openalex-snapshot
Next-generation sequencing: impact of exome sequencing in characterizing Mendelian disorders
inferred← citeshttps://doi.org/10.1038/jhh.2010.93openalex-snapshot
Further study of chromosome 7p22 to identify the molecular basis of familial hyperaldosteronism type II
inferred← citeshttps://doi.org/10.1038/jid.2011.408openalex-snapshot
Unveiling the Roots of Monogenic Genodermatoses: Genotrichoses as a Paradigm
inferred← citeshttps://doi.org/10.1038/jid.2011.62openalex-snapshot
Confirmation by Exome Sequencing of the Pathogenic Role of NCSTN Mutations in Acne Inversa (Hidradenitis Suppurativa)
inferred← citeshttps://doi.org/10.1038/leu.2013.133openalex-snapshot
SETBP1 mutations occur in 9% of MDS/MPN and in 4% of MPN cases and are strongly associated with atypical CML, monosomy 7, isochromosome i(17)(q10), ASXL1 and CBL mutations
inferred← citeshttps://doi.org/10.1038/leu.2013.35openalex-snapshot
SETBP1 mutations in 658 patients with myelodysplastic syndromes, chronic myelomonocytic leukemia and secondary acute myeloid leukemias
inferred← citeshttps://doi.org/10.1038/leu.2013.58openalex-snapshot
Clonal diversity of recurrently mutated genes in myelodysplastic syndromes
inferred← citeshttps://doi.org/10.1038/leu.2013.97openalex-snapshot
SETBP1 mutations in 415 patients with primary myelofibrosis or chronic myelomonocytic leukemia: independent prognostic impact in CMML
inferred← citeshttps://doi.org/10.1038/mp.2012.58openalex-snapshot
A new paradigm emerges from the study of de novo mutations in the context of neurodevelopmental disease
inferred← citeshttps://doi.org/10.1038/nature10989openalex-snapshot
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations
inferred← citeshttps://doi.org/10.1038/nbt.2895openalex-snapshot
A unified test of linkage analysis and rare-variant association for analysis of pedigree sequence data
inferred← citeshttps://doi.org/10.1038/ng.1091openalex-snapshot
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome
inferred← citeshttps://doi.org/10.1038/ng.2303openalex-snapshot
Exome sequencing and the genetic basis of complex traits
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