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Characterising and Predicting Haploinsufficiency in the Human Genome

https://doi.org/10.1371/journal.pgen.1001154
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What this work says

Outgoing claims: the papers this work cites, builds on, or argues with.

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DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources
inferredcites →https://doi.org/10.1016/j.cub.2008.04.074openalex-snapshot
Natural Selection on Genes that Underlie Human Disease Susceptibility
inferredcites →https://doi.org/10.1016/j.jclinepi.2006.01.015openalex-snapshot
Imputation of missing values is superior to complete case analysis and the missing-indicator method in multivariable diagnostic research: A clinical example
inferredcites →https://doi.org/10.1016/j.patrec.2005.10.010openalex-snapshot
An introduction to ROC analysis
inferredcites →https://doi.org/10.1016/j.tig.2004.05.001openalex-snapshot
A common framework for understanding the origin of genetic dominance and evolutionary fates of gene duplications
inferredcites →https://doi.org/10.1038/ejhg.2008.111openalex-snapshot
Identification of human haploinsufficient genes and their genomic proximity to segmental duplications
inferredcites →https://doi.org/10.1038/nature04209openalex-snapshot
Towards a proteome-scale map of the human protein–protein interaction network
inferredcites →https://doi.org/10.1038/nature04240openalex-snapshot
Natural selection on protein-coding genes in the human genome
inferredcites →https://doi.org/10.1038/nature06611openalex-snapshot
Proportionally more deleterious genetic variation in European than in African populations
inferredcites →https://doi.org/10.1038/nature07239openalex-snapshot
Rare chromosomal deletions and duplications increase risk of schizophrenia
inferredcites →https://doi.org/10.1038/nature08250openalex-snapshot
Targeted capture and massively parallel sequencing of 12 human exomes
inferredcites →https://doi.org/10.1038/nature08516openalex-snapshot
Origins and functional impact of copy number variation in the human genome
inferredcites →https://doi.org/10.1038/ng.118openalex-snapshot
Rare independent mutations in renal salt handling genes contribute to blood pressure variation
inferredcites →https://doi.org/10.1038/ng.2007.70openalex-snapshot
A single gene network accurately predicts phenotypic effects of gene perturbation in Caenorhabditis elegans
inferredcites →https://doi.org/10.1038/ng.237openalex-snapshot
Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs
inferredcites →https://doi.org/10.1038/ng.238openalex-snapshot
Integrated detection and population-genetic analysis of SNPs and copy number variation
inferredcites →https://doi.org/10.1038/ng.534openalex-snapshot
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay
inferredcites →https://doi.org/10.1038/ng2092openalex-snapshot
Copy number variations and clinical cytogenetic diagnosis of constitutional disorders
inferredcites →https://doi.org/10.1038/sj.bjc.6602928openalex-snapshot
COSMIC 2005
inferredcites →https://doi.org/10.1073/pnas.0400782101openalex-snapshot
A gene atlas of the mouse and human protein-encoding transcriptomes
inferredcites →https://doi.org/10.1086/503116openalex-snapshot
Spread of an Inactive Form of Caspase-12 in Humans Is Due to Recent Positive Selection
inferredcites →https://doi.org/10.1093/bioinformatics/16.5.412openalex-snapshot
Assessing the accuracy of prediction algorithms for classification: an overview
inferredcites →https://doi.org/10.1093/bioinformatics/bti273openalex-snapshot
Online Predicted Human Interaction Database
inferredcites →https://doi.org/10.1093/hmg/10.6.591openalex-snapshot
Prediction of deleterious human alleles
inferredcites →https://doi.org/10.1093/nar/29.1.98openalex-snapshot
The Mouse Gene Expression Database (GXD)
inferredcites →https://doi.org/10.1093/nar/30.1.52openalex-snapshot
Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders
inferredcites →https://doi.org/10.1093/nar/gki033openalex-snapshot
Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders
inferredcites →https://doi.org/10.1093/nar/gkl1003openalex-snapshot
The mouse Gene Expression Database (GXD): 2007 update
inferredcites →https://doi.org/10.1093/nar/gkl950openalex-snapshot
MINT: the Molecular INTeraction database
inferredcites →https://doi.org/10.1093/nar/gkn828openalex-snapshot
Ensembl 2009
inferredcites →https://doi.org/10.1093/nar/gkn886openalex-snapshot
The Mouse Genome Database genotypes::phenotypes
inferredcites →https://doi.org/10.1093/nar/gkn892openalex-snapshot
Human Protein Reference Database--2009 update
inferredcites →https://doi.org/10.1101/gr.176601openalex-snapshot
Predicting Deleterious Amino Acid Substitutions
inferredcites →https://doi.org/10.1101/gr.3577405openalex-snapshot
Distribution and intensity of constraint in mammalian genomic sequence
inferredcites →https://doi.org/10.1105/tpc.107.055053openalex-snapshot
Exploring the Molecular Etiology of Dominant-Negative Mutations
inferredcites →https://doi.org/10.1136/jmg.31.2.89openalex-snapshot
The molecular basis of genetic dominance.
inferredcites →https://doi.org/10.1137/040608635openalex-snapshot
Graph Clustering Via a Discrete Uncoupling Process
inferredcites →https://doi.org/10.1146/annurev.genom.7.080505.115630openalex-snapshot
Predicting the Effects of Amino Acid Substitutions on Protein Function
inferredcites →https://doi.org/10.1172/jci0215043openalex-snapshot
Transcription factor haploinsufficiency: when half a loaf is not enough
inferredcites →https://doi.org/10.1172/jci15043openalex-snapshot
Transcription factor haploinsufficiency: when half a loaf is not enough
inferredcites →https://doi.org/10.1186/gb-2007-8-3-r39openalex-snapshot
Reactome: a knowledge base of biologic pathways and processes
inferredcites →https://doi.org/10.1371/journal.pgen.0020020openalex-snapshot
Bias of Selection on Human Copy-Number Variants
inferredcites →https://doi.org/10.1371/journal.pgen.1000083openalex-snapshot
Assessing the Evolutionary Impact of Amino Acid Mutations in the Human Genome
inferredcites →https://doi.org/10.1371/journal.pgen.1000160openalex-snapshot
Genetic Variation in an Individual Human Exome
inferredcites →https://doi.org/10.1371/journal.pgen.1000384openalex-snapshot
A Groupwise Association Test for Rare Mutations Using a Weighted Sum Statistic
inferredcites →https://doi.org/10.1371/journal.pone.0000988openalex-snapshot
An Improved, Bias-Reduced Probabilistic Functional Gene Network of Baker's Yeast, Saccharomyces cerevisiae
inferredcites →https://doi.org/10.1534/genetics.104.036871openalex-snapshot
Mechanisms of Haploinsufficiency Revealed by Genome-Wide Profiling in Yeast
inferredcites →https://doi.org/10.1634/stemcells.2006-0352openalex-snapshot
A Meta-Analysis of Human Embryonic Stem Cells Transcriptome Integrated into a Web-Based Expression Atlas

What points at this work

Incoming claims: where this work appears in other papers’ reference lists and arguments.

inferred← citeshttps://doi.org/10.2139/ssrn.3744427openalex-extracted
Genome-Wide Identification of the Genetic Basis of Amyotrophic Lateral Sclerosis
inferred← citeshttps://doi.org/10.1001/jama.2015.4845openalex-snapshot
Copy Number Variations and Cognitive Phenotypes in Unselected Populations
inferred← citeshttps://doi.org/10.1002/0471142905.hg0814s72openalex-snapshot
Interpretation of Genomic Copy Number Variants Using DECIPHER
inferred← citeshttps://doi.org/10.1002/1873-3468.13968openalex-snapshot
A missense mutation in a patient with developmental delay affects the activity and structure of the hexosamine biosynthetic pathway enzyme AGX1
inferred← citeshttps://doi.org/10.1002/9780470015902.a0005475.pub2openalex-snapshot
Dominance and Recessivity
inferred← citeshttps://doi.org/10.1002/9780470015902.a0005489.pub2openalex-snapshot
Haploinsufficiency
inferred← citeshttps://doi.org/10.1002/9780470015902.a0026379openalex-snapshot
Pathogenic Mechanisms and Clinical Consequences of Chromosomal Aberrations in Man
inferred← citeshttps://doi.org/10.1002/acn3.50985openalex-snapshot
New phenotype of DCTN1‐related spectrum: early‐onset dHMN plus congenital foot deformity
inferred← citeshttps://doi.org/10.1002/ajmg.a.34241openalex-snapshot
Transmitted deletions of medial 5p and learning difficulties; Does the cadherin cluster only become penetrant when flanking genes are deleted?
inferred← citeshttps://doi.org/10.1002/ajmg.a.35291openalex-snapshot
Microdeletion 19p13.2 in an almost 5‐year‐old boy
inferred← citeshttps://doi.org/10.1002/ajmg.a.35767openalex-snapshot
8p23.1 duplication syndrome; common, confirmed, and novel features in six further patients
inferred← citeshttps://doi.org/10.1002/ajmg.a.35912openalex-snapshot
A familial deletion of 16q21 characterized by an SNP array and associated with a normal phenotype
inferred← citeshttps://doi.org/10.1002/ajmg.a.36017openalex-snapshot
Confirmation of GRHL2 as the gene for the DFNA28 locus
inferred← citeshttps://doi.org/10.1002/ajmg.a.36230openalex-snapshot
Novel interstitial 2.6 Mb deletion on 9q21 associated with multiple congenital anomalies
inferred← citeshttps://doi.org/10.1002/ajmg.a.36329openalex-snapshot
Severe clinical presentation in monozygotic twins with 10p15.3 microdeletion syndrome
inferred← citeshttps://doi.org/10.1002/ajmg.a.36345openalex-snapshot
Characterization of a 520 kb deletion on chromosome 15q26.1 including ST8SIA2 in a patient with behavioral disturbance, autism spectrum disorder, and epilepsy
inferred← citeshttps://doi.org/10.1002/ajmg.a.36346openalex-snapshot
Microduplication 3q13.2q13.31 identified in a male with dysmorphic features and multiple congenital anomalies
inferred← citeshttps://doi.org/10.1002/ajmg.a.36619openalex-snapshot
De novo deletion of TBL1XR1 in a child with non‐specific developmental delay supports its implication in intellectual disability
inferred← citeshttps://doi.org/10.1002/ajmg.a.37120openalex-snapshot
Inside the 8p23.1 duplication syndrome; eight microduplications of likely or uncertain clinical significance
inferred← citeshttps://doi.org/10.1002/ajmg.a.37143openalex-snapshot
A familial 7q36.3 duplication associated with agenesis of the corpus callosum
inferred← citeshttps://doi.org/10.1002/ajmg.a.37430openalex-snapshot
Coexistence of neuroblastoma and ganglioneuroma in a girl with a hemizygous deletion of chromosome 11q14.1–23.3
inferred← citeshttps://doi.org/10.1002/ajmg.a.38207openalex-snapshot
De novo loss‐of‐function variants in STAG2 are associated with developmental delay, microcephaly, and congenital anomalies
inferred← citeshttps://doi.org/10.1002/ajmg.a.38254openalex-snapshot
6q25.1 (TAB2) microdeletion syndrome: Congenital heart defects and cardiomyopathy
inferred← citeshttps://doi.org/10.1002/ajmg.a.38499openalex-snapshot
Interstitial microdeletion of 17q11.2 is associated with hypotonia, fatigue, intellectual disability, and a subtle facial phenotype in three unrelated patients
inferred← citeshttps://doi.org/10.1002/ajmg.a.38564openalex-snapshot
Incomplete penetrance, variable expressivity, or dosage insensitivity in four families with directly transmitted unbalanced chromosome abnormalities
inferred← citeshttps://doi.org/10.1002/ajmg.a.38852openalex-snapshot
Pulmonary hypertension in patients with 9q34.3 microdeletion‐associated Kleefstra syndrome
inferred← citeshttps://doi.org/10.1002/ajmg.a.40385openalex-snapshot
Reassignment of HMX1 indicates copy number variation within 4p16.1 may be an alternative cause of oculoauricular phenotypes
inferred← citeshttps://doi.org/10.1002/ajmg.a.61537openalex-snapshot
Haploinsufficiency of the basic helix–loop–helix transcription factorHAND2causes congenital heart defects
inferred← citeshttps://doi.org/10.1002/ajmg.a.62117openalex-snapshot
14q32.11 microdeletion including CALM1 , TTC7B , PSMC1 , and RPS6KA5 : A new potential cause of developmental and language delay in three unrelated patients
inferred← citeshttps://doi.org/10.1002/ajmg.a.62439openalex-snapshot
Exome sequencing of child–parent trios with bladder exstrophy: Findings in 26 children
inferred← citeshttps://doi.org/10.1002/ajmg.a.63124openalex-snapshot
SOX5 : Lamb–Shaffer syndrome—A case series further expanding the phenotypic spectrum
inferred← citeshttps://doi.org/10.1002/ajmg.a.63427openalex-snapshot
Diagnostic yield of chromosomal microarray in the largest Latino clinical cohort
inferred← citeshttps://doi.org/10.1002/ajmg.b.32081openalex-snapshot
Application of array comparative genomic hybridization in 102 patients with epilepsy and additional neurodevelopmental disorders
inferred← citeshttps://doi.org/10.1002/ajmg.b.32427openalex-snapshot
Reinforcing the association between distal 1q CNVs and structural brain disorder: A case of a complex 1q43‐q44 CNV and a review of the literature
inferred← citeshttps://doi.org/10.1002/ajmg.b.32543openalex-snapshot
Vitamin D‐related genes are subjected to significant de novo mutation burdens in autism spectrum disorder
inferred← citeshttps://doi.org/10.1002/ajmg.c.31444openalex-snapshot
5p deletions: Current knowledge and future directions
inferred← citeshttps://doi.org/10.1002/ajmg.c.31900openalex-snapshot
Network‐based analysis using chromosomal microdeletion syndromes as a model
inferred← citeshttps://doi.org/10.1002/ana.25208openalex-snapshot
De novo hotspot variants in CYFIP2 cause early‐onset epileptic encephalopathy
inferred← citeshttps://doi.org/10.1002/ana.25278openalex-snapshot
Haploinsufficiency of CUX1 Causes Nonsyndromic Global Developmental Delay With Possible Catch‐up Development
inferred← citeshttps://doi.org/10.1002/bdra.23038openalex-snapshot
An unusual case of cat‐eye syndrome phenotype and extragonadal mature teratoma: Review of the literature
inferred← citeshttps://doi.org/10.1002/bies.201700240openalex-snapshot
Getting the Message? Native Reactive Electrophiles Pass Two Out of Three Thresholds to be Bona Fide Signaling Mediators
inferred← citeshttps://doi.org/10.1002/bies.202200187openalex-snapshot
MicroRNAs play regulatory roles in genomic balance
inferred← citeshttps://doi.org/10.1002/cphg.57openalex-snapshot
Computational Prediction of Position Effects of Human Chromosome Rearrangements
inferred← citeshttps://doi.org/10.1002/cphg.98openalex-snapshot
Clinical Interpretation of Sequence Variants
inferred← citeshttps://doi.org/10.1002/dvg.23421openalex-snapshot
Setd5 is required in cardiopharyngeal mesoderm for heart development and its haploinsufficiency is associated with outflow tract defects in mouse
inferred← citeshttps://doi.org/10.1002/humu.21524openalex-snapshot
Characterization of copy number‐stable regions in the human genome
inferred← citeshttps://doi.org/10.1002/humu.22037openalex-snapshot
Haploinsufficiency ofSOX5at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features
inferred← citeshttps://doi.org/10.1002/humu.22049openalex-snapshot
Diagnostic interpretation of array data using public databases and internet sources
inferred← citeshttps://doi.org/10.1002/humu.22217openalex-snapshot
Inverted Low-Copy Repeats and Genome Instability-A Genome-Wide Analysis
inferred← citeshttps://doi.org/10.1002/humu.22376openalex-snapshot
dbNSFP v2.0: A Database of Human Non-synonymous SNVs and Their Functional Predictions and Annotations
inferred← citeshttps://doi.org/10.1002/humu.22842openalex-snapshot
Facilitating Collaboration in Rare Genetic Disorders Through Effective Matchmaking in DECIPHER
inferred← citeshttps://doi.org/10.1002/humu.23207openalex-snapshot
Characterization of chromosomal abnormalities in pregnancy losses reveals critical genes and loci for human early development
inferred← citeshttps://doi.org/10.1002/humu.23282openalex-snapshot
Heterozygous variants inACTL6A, encoding a component of the BAF complex, are associated with intellectual disability
inferred← citeshttps://doi.org/10.1002/humu.23541openalex-snapshot
De novo mutations in theSETnuclear proto-oncogene, encoding a component of the inhibitor of histone acetyltransferases (INHAT) complex in patients with nonsyndromic intellectual disability
inferred← citeshttps://doi.org/10.1002/humu.23610openalex-snapshot
Copy number variant discrepancy resolution using the ClinGen dosage sensitivity map results in updated clinical interpretations in ClinVar
inferred← citeshttps://doi.org/10.1002/humu.23794openalex-snapshot
Predicting the impact of single nucleotide variants on splicing via sequence‐based deep neural networks and genomic features
inferred← citeshttps://doi.org/10.1002/humu.24291openalex-snapshot
Utilizing ClinGen gene‐disease validity and dosage sensitivity curations to inform variant classification
inferred← citeshttps://doi.org/10.1002/humu.24335openalex-snapshot
Variant interpretation: UCSC Genome Browser Recommended Track Sets
inferred← citeshttps://doi.org/10.1002/ijc.29215openalex-snapshot
Genome‐wide CNV analysis in 221 unrelated patients and targeted high‐throughput sequencing reveal novel causative candidate genes for colorectal adenomatous polyposis
inferred← citeshttps://doi.org/10.1002/ijc.31725openalex-snapshot
Copy number variation analysis and targeted NGS in 77 families with suspected Lynch syndrome reveals novel potential causative genes
inferred← citeshttps://doi.org/10.1002/jcu.70427openalex-snapshot
First Prenatal Report of Ververi–Brady Syndrome: From Fetal Clues to Genetic Truth!
inferred← citeshttps://doi.org/10.1002/mds.27982openalex-snapshot
Loss‐of‐Function Mutations in NR4A2 Cause Dopa‐Responsive Dystonia Parkinsonism
inferred← citeshttps://doi.org/10.1002/mgg3.1645openalex-snapshot
Two new cases of interstitial 7q35q36.1 deletion including CNTNAP2 and KMT2C
inferred← citeshttps://doi.org/10.1002/mgg3.2openalex-snapshot
Clinical and mutation analysis of 51 probands with anophthalmia and/or severe microphthalmia from a single center
inferred← citeshttps://doi.org/10.1002/mgg3.354openalex-snapshot
Genetic testing including targeted gene panel in a diverse clinical population of children with autism spectrum disorder: Findings and implications
inferred← citeshttps://doi.org/10.1002/mgg3.387openalex-snapshot
Toward clinical and molecular understanding of pathogenic variants in the ZBTB18 gene
inferred← citeshttps://doi.org/10.1002/mgg3.496openalex-snapshot
Insertional translocation involving an additional nonchromothriptic chromosome in constitutional chromothripsis: Rule or exception?
inferred← citeshttps://doi.org/10.1002/mgg3.568openalex-snapshot
Severe congenital nephrogenic diabetes insipidus in a compound heterozygote with a new large deletion of the AQP2 gene. A case report
inferred← citeshttps://doi.org/10.1002/mgg3.855openalex-snapshot
Long QT syndrome in chromosome 7q35q36.3 deletion involving KCNH2 gene: Warning for chlorpheniramine prescription
inferred← citeshttps://doi.org/10.1002/mrd.22880openalex-snapshot
From phenologs to silent suppressors: Identifying potential therapeutic targets for human disease
inferred← citeshttps://doi.org/10.1002/pd.5159openalex-snapshot
Chromosomal aneuploidies and copy number variations in posterior fossa abnormalities diagnosed by prenatal ultrasonography
inferred← citeshttps://doi.org/10.1007/978-1-4939-0847-9_8openalex-snapshot
Chromosome Microarrays in Diagnostic Testing: Interpreting the Genomic Data
inferred← citeshttps://doi.org/10.1007/978-1-4939-2824-8_5openalex-snapshot
Functional Annotation of Rare Genetic Variants
inferred← citeshttps://doi.org/10.1007/978-1-4939-7780-2_22openalex-snapshot
Looking for Broken TAD Boundaries and Changes on DNA Interactions: Clinical Guide to 3D Chromatin Change Analysis in Complex Chromosomal Rearrangements and Chromothripsis
inferred← citeshttps://doi.org/10.1007/978-3-319-67144-4_3openalex-snapshot
Intellectual Disability & Rare Disorders: A Diagnostic Challenge
inferred← citeshttps://doi.org/10.1007/978-3-662-48986-4_3494openalex-snapshot
Haplo-Insuffizienz
inferred← citeshttps://doi.org/10.1007/978-3-662-49054-9_3494-1openalex-snapshot
Haplo-Insuffizienz
inferred← citeshttps://doi.org/10.1007/978-94-017-7408-6_6openalex-snapshot
Materials and Methods
inferred← citeshttps://doi.org/10.1007/978-981-13-0593-1_1openalex-snapshot
Historical and Clinical Perspectives on Chromosomal Translocations
inferred← citeshttps://doi.org/10.1007/s00018-023-04769-wopenalex-snapshot
ALS is imprinted in the chromatin accessibility of blood cells
inferred← citeshttps://doi.org/10.1007/s00109-020-01991-yopenalex-snapshot
De novo mutation of cancer-related genes associates with particular neurodevelopmental disorders
inferred← citeshttps://doi.org/10.1007/s00427-013-0443-yopenalex-snapshot
Exploring the effects of gene dosage on mandible shape in mice as a model for studying the genetic basis of natural variation
inferred← citeshttps://doi.org/10.1007/s00439-011-1073-yopenalex-snapshot
High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44
inferred← citeshttps://doi.org/10.1007/s00439-013-1263-xopenalex-snapshot
Haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palate
inferred← citeshttps://doi.org/10.1007/s00439-013-1338-8openalex-snapshot
Genome-wide copy number variation analysis of a Branchio-oto-renal syndrome cohort identifies a recombination hotspot and implicates new candidate genes
inferred← citeshttps://doi.org/10.1007/s00439-016-1668-4openalex-snapshot
An atypical 12q24.31 microdeletion implicates six genes including a histone demethylase KDM2B and a histone methyltransferase SETD1B in syndromic intellectual disability
inferred← citeshttps://doi.org/10.1007/s00439-017-1772-0openalex-snapshot
Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU
inferred← citeshttps://doi.org/10.1007/s00439-018-1898-8openalex-snapshot
De novo variants in GREB1L are associated with non-syndromic inner ear malformations and deafness
inferred← citeshttps://doi.org/10.1007/s00439-021-02362-4openalex-snapshot
Revealing modifier variations characterizations for elucidating the genetic basis of human phenotypic variations
inferred← citeshttps://doi.org/10.1007/s00467-013-2625-2openalex-snapshot
The emerging role of genomics in the diagnosis and workup of congenital urinary tract defects: a novel deletion syndrome on chromosome 3q13.31-22.1
inferred← citeshttps://doi.org/10.1007/s00467-023-06146-yopenalex-snapshot
Genetics of kidney disorders in Phelan-McDermid syndrome: evidence from 357 registry participants
inferred← citeshttps://doi.org/10.1007/s10048-011-0306-5openalex-snapshot
Genotype–phenotype correlation in interstitial 6q deletions: a report of 12 new cases
inferred← citeshttps://doi.org/10.1007/s10048-016-0482-4openalex-snapshot
A recurrent de novo CTBP1 mutation is associated with developmental delay, hypotonia, ataxia, and tooth enamel defects
inferred← citeshttps://doi.org/10.1007/s10048-017-0533-5openalex-snapshot
The contribution of 7q33 copy number variations for intellectual disability
inferred← citeshttps://doi.org/10.1007/s10549-012-2322-zopenalex-snapshot
The clinical consequences of hemizygosity across 2 MB of 10q23 are restricted to Cowden syndrome
inferred← citeshttps://doi.org/10.1007/s10689-016-9870-zopenalex-snapshot
Exome sequencing identifies potential novel candidate genes in patients with unexplained colorectal adenomatous polyposis
inferred← citeshttps://doi.org/10.1007/s10709-015-9875-9openalex-snapshot
Dominance from the perspective of gene–gene and gene–chemical interactions
inferred← citeshttps://doi.org/10.1007/s11033-020-05545-wopenalex-snapshot
Genome-wide miRNA profiling in plasma of pregnant women with down syndrome fetuses
inferred← citeshttps://doi.org/10.1007/s11568-011-9156-3openalex-snapshot
Review of massively parallel DNA sequencing technologies
inferred← citeshttps://doi.org/10.1007/s11999-014-3766-8openalex-snapshot
Are Copy Number Variants Associated With Adolescent Idiopathic Scoliosis?
inferred← citeshttps://doi.org/10.1007/s12652-023-04607-8openalex-snapshot
Deep face segmentation for improved heart and respiratory rate estimation from videos
inferred← citeshttps://doi.org/10.1007/s13353-013-0181-xopenalex-snapshot
Application of array comparative genomic hybridization in 256 patients with developmental delay or intellectual disability
inferred← citeshttps://doi.org/10.1007/s13353-017-0407-4openalex-snapshot
Clinical interpretation of copy number variants in the human genome
inferred← citeshttps://doi.org/10.1007/s13353-018-0447-4openalex-snapshot
Novel 1q22-q23.1 duplication in a patient with lambdoid and metopic craniosynostosis, muscular hypotonia, and psychomotor retardation
inferred← citeshttps://doi.org/10.1007/s40142-015-0078-6openalex-snapshot
Current Tools for Interpretation of Genomic Copy Number Variants
inferred← citeshttps://doi.org/10.1016/b978-0-12-821595-1.00005-1openalex-snapshot
Targeting chromatin: Transcriptional gene activation (saRNA)
inferred← citeshttps://doi.org/10.1016/b978-0-12-823928-5.00010-4openalex-snapshot
Epigenetics: Future prospective in human disorders and therapeutics
inferred← citeshttps://doi.org/10.1016/bs.mie.2019.02.039openalex-snapshot
REX technologies for profiling and decoding the electrophile signaling axes mediated by Rosetta Stone proteins
inferred← citeshttps://doi.org/10.1016/j.addr.2022.114564openalex-snapshot
Challenges and opportunities for precision medicine in neurodevelopmental disorders
inferred← citeshttps://doi.org/10.1016/j.ajhg.2012.05.011openalex-snapshot
Genome-wide Transcriptome Profiling Reveals the Functional Impact of Rare De Novo and Recurrent CNVs in Autism Spectrum Disorders
inferred← citeshttps://doi.org/10.1016/j.ajhg.2012.08.003openalex-snapshot
Contribution of Global Rare Copy-Number Variants to the Risk of Sporadic Congenital Heart Disease
inferred← citeshttps://doi.org/10.1016/j.ajhg.2013.05.022openalex-snapshot
Dissecting Disease Inheritance Modes in a Three-Dimensional Protein Network Challenges the “Guilt-by-Association” Principle
inferred← citeshttps://doi.org/10.1016/j.ajhg.2013.09.013openalex-snapshot
The Roles of FMRP-Regulated Genes in Autism Spectrum Disorder: Single- and Multiple-Hit Genetic Etiologies
inferred← citeshttps://doi.org/10.1016/j.ajhg.2014.03.018openalex-snapshot
Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders
inferred← citeshttps://doi.org/10.1016/j.ajhg.2014.07.011openalex-snapshot
Mutations in NOTCH1 Cause Adams-Oliver Syndrome
inferred← citeshttps://doi.org/10.1016/j.ajhg.2014.11.003openalex-snapshot
Gene Age Predicts the Strength of Purifying Selection Acting on Gene Expression Variation in Humans
inferred← citeshttps://doi.org/10.1016/j.ajhg.2015.02.005openalex-snapshot
Chromothripsis in Healthy Individuals Affects Multiple Protein-Coding Genes and Can Result in Severe Congenital Abnormalities in Offspring
inferred← citeshttps://doi.org/10.1016/j.ajhg.2015.04.013openalex-snapshot
Individualized Iterative Phenotyping for Genome-wide Analysis of Loss-of-Function Mutations
inferred← citeshttps://doi.org/10.1016/j.ajhg.2015.10.013openalex-snapshot
Histone Modifier Genes Alter Conotruncal Heart Phenotypes in 22q11.2 Deletion Syndrome
inferred← citeshttps://doi.org/10.1016/j.ajhg.2015.12.014openalex-snapshot
Small 6q16.1 Deletions Encompassing POU3F2 Cause Susceptibility to Obesity and Variable Developmental Delay with Intellectual Disability
inferred← citeshttps://doi.org/10.1016/j.ajhg.2016.06.015openalex-snapshot
Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis
inferred← citeshttps://doi.org/10.1016/j.ajhg.2016.06.036openalex-snapshot
Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families
inferred← citeshttps://doi.org/10.1016/j.ajhg.2016.08.022openalex-snapshot
Structural Chromosomal Rearrangements Require Nucleotide-Level Resolution: Lessons from Next-Generation Sequencing in Prenatal Diagnosis
inferred← citeshttps://doi.org/10.1016/j.ajhg.2016.11.020openalex-snapshot
De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome
inferred← citeshttps://doi.org/10.1016/j.ajhg.2017.01.003openalex-snapshot
De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder
inferred← citeshttps://doi.org/10.1016/j.ajhg.2017.06.011openalex-snapshot
Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements
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.2017.09.001openalex-snapshot
DOMINO: Using Machine Learning to Predict Genes Associated with Dominant Disorders
inferred← citeshttps://doi.org/10.1016/j.ajhg.2017.11.006openalex-snapshot
ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder
inferred← citeshttps://doi.org/10.1016/j.ajhg.2017.11.013openalex-snapshot
Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders
inferred← citeshttps://doi.org/10.1016/j.ajhg.2018.03.023openalex-snapshot
A Statistical Framework for Mapping Risk Genes from De Novo Mutations in Whole-Genome-Sequencing Studies
inferred← citeshttps://doi.org/10.1016/j.ajhg.2018.04.005openalex-snapshot
Risks and Recommendations in Prenatally Detected De Novo Balanced Chromosomal Rearrangements from Assessment of Long-Term Outcomes
inferred← citeshttps://doi.org/10.1016/j.ajhg.2018.05.009openalex-snapshot
Natural Selection Has Differentiated the Progesterone Receptor among Human Populations
inferred← citeshttps://doi.org/10.1016/j.ajhg.2018.10.006openalex-snapshot
NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly
inferred← citeshttps://doi.org/10.1016/j.ajhg.2018.11.007openalex-snapshot
Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay
inferred← citeshttps://doi.org/10.1016/j.ajhg.2019.02.001openalex-snapshot
A Syndromic Neurodevelopmental Disorder Caused by Mutations in SMARCD1, a Core SWI/SNF Subunit Needed for Context-Dependent Neuronal Gene Regulation in Flies
inferred← citeshttps://doi.org/10.1016/j.ajhg.2019.11.011openalex-snapshot
Gain-of-Function MN1 Truncation Variants Cause a Recognizable Syndrome with Craniofacial and Brain Abnormalities
inferred← citeshttps://doi.org/10.1016/j.ajhg.2019.11.013openalex-snapshot
SYCP2 Translocation-Mediated Dysregulation and Frameshift Variants Cause Human Male Infertility
inferred← citeshttps://doi.org/10.1016/j.ajhg.2020.07.014openalex-snapshot
Promoter CpG Density Predicts Downstream Gene Loss-of-Function Intolerance
inferred← citeshttps://doi.org/10.1016/j.ajhg.2020.08.002openalex-snapshot
De Novo KAT5 Variants Cause a Syndrome with Recognizable Facial Dysmorphisms, Cerebellar Atrophy, Sleep Disturbance, and Epilepsy
inferred← citeshttps://doi.org/10.1016/j.ajhg.2020.10.017openalex-snapshot
Missense variants in the N-terminal domain of the A isoform of FHF2/FGF13 cause an X-linked developmental and epileptic encephalopathy
inferred← citeshttps://doi.org/10.1016/j.ajhg.2021.08.010openalex-snapshot
Identifying digenic disease genes via machine learning in the Undiagnosed Diseases Network
inferred← citeshttps://doi.org/10.1016/j.ajhg.2021.12.001openalex-snapshot
Overcoming constraints on the detection of recessive selection in human genes from population frequency data
inferred← citeshttps://doi.org/10.1016/j.ajhg.2023.08.002openalex-snapshot
An RNA-informed dosage sensitivity map reflects the intrinsic functional nature of genes
inferred← citeshttps://doi.org/10.1016/j.ajhg.2024.01.007openalex-snapshot
Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt
inferred← citeshttps://doi.org/10.1016/j.ajhg.2024.02.016openalex-snapshot
De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features
inferred← citeshttps://doi.org/10.1016/j.ajhg.2025.01.013openalex-snapshot
Isogenic hiPSC models of Turner syndrome development reveal shared roles of inactive X and Y in the human cranial neural crest network
inferred← citeshttps://doi.org/10.1016/j.bbr.2020.113007openalex-snapshot
Further evidence of anxiety- and depression-like behavior for total genetic ablation of cannabinoid receptor type 1
inferred← citeshttps://doi.org/10.1016/j.biochi.2020.10.009openalex-snapshot
Functional effects of protein variants
inferred← citeshttps://doi.org/10.1016/j.cancergen.2015.07.006openalex-snapshot
Overexpression of the LSAMP and TUSC7 genes in acute myeloid leukemia following microdeletion/duplication of chromosome 3
inferred← citeshttps://doi.org/10.1016/j.cell.2013.10.031openalex-snapshot
Integrative Functional Genomic Analyses Implicate Specific Molecular Pathways and Circuits in Autism
inferred← citeshttps://doi.org/10.1016/j.cell.2016.08.071openalex-snapshot
Mutations in Human Accelerated Regions Disrupt Cognition and Social Behavior
inferred← citeshttps://doi.org/10.1016/j.cell.2019.05.010openalex-snapshot
The Translational Landscape of the Human Heart
inferred← citeshttps://doi.org/10.1016/j.cell.2022.01.021openalex-snapshot
Transcription factor protein interactomes reveal genetic determinants in heart disease
inferred← citeshttps://doi.org/10.1016/j.cell.2022.06.036openalex-snapshot
A cross-disorder dosage sensitivity map of the human genome
inferred← citeshttps://doi.org/10.1016/j.celrep.2018.11.029openalex-snapshot
A Primate-Specific Isoform of PLEKHG6 Regulates Neurogenesis and Neuronal Migration
inferred← citeshttps://doi.org/10.1016/j.celrep.2021.109546openalex-snapshot
PSMB11 regulates gene expression in cortical thymic epithelial cells
inferred← citeshttps://doi.org/10.1016/j.celrep.2022.110846openalex-snapshot
Regionally defined proteomic profiles of human cerebral tissue and organoids reveal conserved molecular modules of neurodevelopment
inferred← citeshttps://doi.org/10.1016/j.cels.2020.03.003openalex-snapshot
BraInMap Elucidates the Macromolecular Connectivity Landscape of Mammalian Brain
inferred← citeshttps://doi.org/10.1016/j.clim.2023.109526openalex-snapshot
A comprehensive knowledgebase of known and predicted human genetic variants associated with COVID-19 susceptibility and severity
inferred← citeshttps://doi.org/10.1016/j.compbiolchem.2015.08.009openalex-snapshot
A survey of disease connections for CD4+ T cell master genes and their directly linked genes
inferred← citeshttps://doi.org/10.1016/j.compbiomed.2023.107051openalex-snapshot
Perspective of artificial intelligence in healthcare data management: A journey towards precision medicine
inferred← citeshttps://doi.org/10.1016/j.compbiomed.2025.110619openalex-snapshot
A comprehensive targeted panel of 295 genes: Unveiling key disease initiating and transformative biomarkers in multiple myeloma
inferred← citeshttps://doi.org/10.1016/j.conb.2012.08.005openalex-snapshot
Diametric gene-dosage effects as windows into neurogenetic architecture
inferred← citeshttps://doi.org/10.1016/j.crmeth.2024.100914openalex-snapshot
Ensemble and consensus approaches to prediction of recessive inheritance for missense variants in human disease
inferred← citeshttps://doi.org/10.1016/j.csbj.2022.07.011openalex-snapshot
An accurate prediction model of digenic interaction for estimating pathogenic gene pairs of human diseases
inferred← citeshttps://doi.org/10.1016/j.cyto.2022.156102openalex-snapshot
Effect of exogenous IL-37 on immune cells from a patient carrying a potential IL37 loss-of-function variant: A case study
inferred← citeshttps://doi.org/10.1016/j.ebiom.2024.105195openalex-snapshot
Contribution of copy number variants on antipsychotic treatment response in Han Chinese patients with schizophrenia
inferred← citeshttps://doi.org/10.1016/j.ejmg.2012.03.001openalex-snapshot
A de novo 1.13 Mb microdeletion in 12q13.13 associated with congenital distal arthrogryposis, intellectual disability and mild dysmorphism
inferred← citeshttps://doi.org/10.1016/j.ejmg.2012.11.001openalex-snapshot
Haploinsufficiency of SOX5, a member of the SOX (SRY-related HMG-box) family of transcription factors is a cause of intellectual disability
inferred← citeshttps://doi.org/10.1016/j.ejmg.2014.12.016openalex-snapshot
Clinical and molecular delineation of a 16p13.2p13.13 microduplication
inferred← citeshttps://doi.org/10.1016/j.ejmg.2015.10.004openalex-snapshot
Microdeletion 8q22.2-q22.3 in a 40-year-old male
inferred← citeshttps://doi.org/10.1016/j.ejmg.2017.12.008openalex-snapshot
Refinement of the critical 7p22.1 deletion region: Haploinsufficiency of ACTB is the cause of the 7p22.1 microdeletion-related developmental disorders
inferred← citeshttps://doi.org/10.1016/j.ejmg.2018.02.007openalex-snapshot
The Brain-Lung-Thyroid syndrome (BLTS): A novel deletion in chromosome 14q13.2-q21.1 expands the phenotype to humoral immunodeficiency
inferred← citeshttps://doi.org/10.1016/j.ejmg.2018.11.020openalex-snapshot
A de novo 2q37.2 deletion encompassing AGAP1 and SH3BP4 in a patient with autism and intellectual disability
inferred← citeshttps://doi.org/10.1016/j.ejmg.2019.103736openalex-snapshot
Intragenic CNTN4 copy number variants associated with a spectrum of neurobehavioral phenotypes
inferred← citeshttps://doi.org/10.1016/j.ejmg.2020.103920openalex-snapshot
Genetic diagnosis of autoinflammatory disease patients using clinical exome sequencing
inferred← citeshttps://doi.org/10.1016/j.ejmg.2020.104085openalex-snapshot
ANO3 and early-onset dyskinetic encephalopathy
inferred← citeshttps://doi.org/10.1016/j.ejmg.2025.105015openalex-snapshot
Familial inheritance of 14q terminal deletion syndrome and review of the literature
inferred← citeshttps://doi.org/10.1016/j.fgb.2011.11.007openalex-snapshot
Haplo-insufficiency for different genes differentially reduces pathogenicity and virulence in a fungal phytopathogen
inferred← citeshttps://doi.org/10.1016/j.gene.2017.03.025openalex-snapshot
Identification of a de novo microdeletion 1q44 in a patient with hypogenesis of the corpus callosum, seizures and microcephaly – A case report
inferred← citeshttps://doi.org/10.1016/j.gpb.2019.10.002openalex-snapshot
PsyMuKB: An Integrative De Novo Variant Knowledge Base for Developmental Disorders
inferred← citeshttps://doi.org/10.1016/j.gpb.2022.07.005openalex-snapshot
mvPPT: A Highly Efficient and Sensitive Pathogenicity Prediction Tool for Missense Variants
inferred← citeshttps://doi.org/10.1016/j.health.2023.100202openalex-snapshot
Development and performance analysis of machine learning methods for predicting depression among menopausal women
inferred← citeshttps://doi.org/10.1016/j.heliyon.2024.e24703openalex-snapshot
Heterozygous Nexmif female mice demonstrate mosaic NEXMIF expression, autism-like behaviors, and abnormalities in dendritic arborization and synaptogenesis
inferred← citeshttps://doi.org/10.1016/j.humimm.2013.04.024openalex-snapshot
Disruption of the CREBBP gene and decreased expression of CREB, NFκB p65, c-JUN, c-FOS, BCL2 and c-MYC suggest immune dysregulation
inferred← citeshttps://doi.org/10.1016/j.isci.2025.112812openalex-snapshot
Proteome-wide prediction of the mode of inheritance and molecular mechanisms underlying genetic diseases using structural interactomics
inferred← citeshttps://doi.org/10.1016/j.jacbts.2021.07.012openalex-snapshot
Translation of New and Emerging Therapies for Genetic Cardiomyopathies
inferred← citeshttps://doi.org/10.1016/j.jgg.2015.06.009openalex-snapshot
Digital Karyotyping with Whole Genomic Sequencing for Complex Congenital Disorder
inferred← citeshttps://doi.org/10.1016/j.jmoldx.2022.06.005openalex-snapshot
Utility and Outcomes of the 2019 American College of Medical Genetics and Genomics–Clinical Genome Resource Guidelines for Interpretation of Copy Number Variants with Borderline Classifications at an Academic Clinical Diagnostic Laboratory
inferred← citeshttps://doi.org/10.1016/j.matbio.2025.11.004openalex-snapshot
Zebrafish col4a1 loss-of-function models mirror key neurovascular and ocular features of COL4A1/A2 syndrome and enable human variants assessment in vivo
inferred← citeshttps://doi.org/10.1016/j.neuron.2021.12.019openalex-snapshot
Genome-wide identification of the genetic basis of amyotrophic lateral sclerosis
inferred← citeshttps://doi.org/10.1016/j.neuroscience.2021.09.023openalex-snapshot
Myosin VI Haploinsufficiency Reduced Hearing Ability in Mice
inferred← citeshttps://doi.org/10.1016/j.psycr.2025.100254openalex-snapshot
Potential link between copy number variation and abnormal genome wide DNA methylation profile in an individual with severe ADHD and a strong response to micronutrient treatment
inferred← citeshttps://doi.org/10.1016/j.scr.2018.06.013openalex-snapshot
Derivation and molecular characterization of pancreatic differentiated MODY1-iPSCs
inferred← citeshttps://doi.org/10.1016/j.semcdb.2011.07.010openalex-snapshot
The consequences of structural genomic alterations in humans: Genomic Disorders, genomic instability and cancer
inferred← citeshttps://doi.org/10.1016/j.semcdb.2018.05.015openalex-snapshot
It’s not magic – Hsp90 and its effects on genetic and epigenetic variation
inferred← citeshttps://doi.org/10.1016/j.tig.2020.04.006openalex-snapshot
Deregulated Regulators: Disease-Causing cis Variants in Transcription Factor Genes
inferred← citeshttps://doi.org/10.1016/j.tig.2020.06.006openalex-snapshot
The Consequences of Abnormal Gene Dosage: Lessons from Chromosome 18
inferred← citeshttps://doi.org/10.1016/j.tins.2018.07.005openalex-snapshot
Epigenetic and Cellular Diversity in the Brain through Allele-Specific Effects
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