Delineation of dual molecular diagnosis in patients with skeletal deformity.
PMID:35346302
Genetic and Phenotypic Spectrum of KBG Syndrome: A Report of 13 New Chinese Cases and a Review of the Literature.
PMID:35330407
Why does it take so long for rare disease patients to get an accurate diagnosis?-A qualitative investigation of patient experiences of hereditary angioedema.
PMID:35303740
A guide for the diagnosis of rare and undiagnosed disease: beyond the exome.
PMID:35220969
Mixed-methods evaluation of the NHS Genomic Medicine Service for paediatric rare diseases: study protocol [version 1; peer review: 2 approved, 2 approved with reservations].
PMID:35098132
Clinical efficiency of simultaneous CNV-seq and whole-exome sequencing for testing fetal structural anomalies.
PMID:34980134
Overcoming constraints on the detection of recessive selection in human genes from population frequency data.
PMID:34951958
Identification of a novel KAT6A variant in an infant presenting with facial dysmorphism and developmental delay: a case report and literature review.
PMID:34930245
Intellectual disability genomics: current state, pitfalls and future challenges.
PMID:34930158
The good, the bad, and the ugly: Evolutionary and pathological aspects of gene dosage alterations.
PMID:34882671
Beyond Trinucleotide Repeat Expansion in Fragile X Syndrome: Rare Coding and Noncoding Variants in FMR1 and Associated Phenotypes.
PMID:34828275
FMRP-Driven Neuropathology in Autistic Spectrum Disorder and Alzheimer's disease: A Losing Game.
PMID:34760921
Inability to switch from ARID1A-BAF to ARID1B-BAF impairs exit from pluripotency and commitment towards neural crest formation in ARID1B-related neurodevelopmental disorders.
PMID:34753942
Extracellular LGALS3BP regulates neural progenitor position and relates to human cortical complexity.
PMID:34728600
Combinatorial patterns of gene expression changes contribute to variable expressivity of the developmental delay-associated 16p12.1 deletion.
PMID:34657631
Further delineation of the clinical spectrum of White-Sutton syndrome: 12 new individuals and a review of the literature.
PMID:34645992
Detecting cryptic clinically relevant structural variation in exome-sequencing data increases diagnostic yield for developmental disorders.
PMID:34626536
A single center experience with publicly funded clinical exome sequencing for neurodevelopmental disorders or multiple congenital anomalies.
PMID:34580403
Whole-genome sequencing as a first-tier diagnostic framework for rare genetic diseases.
PMID:34521224
NGS and phenotypic ontology-based approaches increase the diagnostic yield in syndromic retinal diseases.
PMID:34448047
A Case Series of Familial ARID1B Variants Illustrating Variable Expression and Suggestions to Update the ACMG Criteria.
PMID:34440449
Clinical Phenotypic Spectrum of 4095 Individuals with Down Syndrome from Text Mining of Electronic Health Records.
PMID:34440331
Decoding disease: from genomes to networks to phenotypes.
PMID:34341555
Unravelling the genetic causes of multiple malformation syndromes: A whole exome sequencing study of the Cypriot population.
PMID:34324503
Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease.
PMID:34324492
Genomic frontiers in congenital heart disease.
PMID:34272501
Cost or price of sequencing? Implications for economic evaluations in genomic medicine.
PMID:34113006
Cruxome: a powerful tool for annotating, interpreting and reporting genetic variants.
PMID:34082700
Solving patients with rare diseases through programmatic reanalysis of genome-phenome data.
PMID:34075210
Chromatin Remodeling in the Brain-a NuRDevelopmental Odyssey.
PMID:33946340
Novel ARID1B variant inherited from somatogonadal mosaic mother in siblings with Coffin-Siris syndrome 1.
PMID:33936271
CaBagE: A Cas9-based Background Elimination strategy for targeted, long-read DNA sequencing.
PMID:33830997
Expectations and blind spots for structural variation detection from long-read assemblies and short-read genome sequencing technologies.
PMID:33789087
Maternal transmission of a mild Coffin-Siris syndrome phenotype caused by a SOX11 missense variant.
PMID:33785884
Neurobiology of ARID1B haploinsufficiency related to neurodevelopmental and psychiatric disorders.
PMID:33686214
Common genetic variants with fetal effects on birth weight are enriched for proximity to genes implicated in rare developmental disorders.
PMID:33682876
Genetic Testing in Neurodevelopmental Disorders.
PMID:33681094
Whole genome sequencing of 45 Japanese patients with intellectual disability.
PMID:33624935
Genetic testing for unexplained perinatal disorders.
PMID:33605625
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.
PMID:33596411
Missense substitutions at a conserved 14-3-3 binding site in HDAC4 cause a novel intellectual disability syndrome.
PMID:33537682
Polygenic burden has broader impact on health, cognition, and socioeconomic outcomes than most rare and high-risk copy number variants.
PMID:33526825
The contribution of X-linked coding variation to severe developmental disorders.
PMID:33504798
Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype.
PMID:33437032
Two Novel Mutations of ANKRD11 Gene and Wide Clinical Spectrum in KBG Syndrome: Case Reports and Literature Review.
PMID:33262785
Pathogenic variants causing ABL1 malformation syndrome cluster in a myristoyl-binding pocket and increase tyrosine kinase activity.
PMID:33223528
Evaluating variants classified as pathogenic in ClinVar in the DDD Study.
PMID:33149276
Best practices for the analytical validation of clinical whole-genome sequencing intended for the diagnosis of germline disease.
PMID:33110627
The role of next-generation sequencing in the investigation of ultrasound-identified fetal structural anomalies.
PMID:32975887
A three-year follow-up study evaluating clinical utility of exome sequencing and diagnostic potential of reanalysis.
PMID:32963807
Genome Sequencing as a Diagnostic Test in Children With Unexplained Medical Complexity.
PMID:32960281
Clinical Utility of Next-Generation Sequencing for Developmental Disorders in the Rehabilitation Department: Experiences from a Single Chinese Center.
PMID:32959227
High-throughput single-cell functional elucidation of neurodevelopmental disease-associated genes reveals convergent mechanisms altering neuronal differentiation.
PMID:32887689
Two Cases of Recessive Intellectual Disability Caused by NDST1 and METTL23 Variants.
PMID:32878022
Assessing performance of pathogenicity predictors using clinically relevant variant datasets.
PMID:32843488
Causal Genetic Variants in Stillbirth.
PMID:32786180
Exon-focused targeted oligonucleotide microarray design increases detection of clinically relevant variants across multiple NHS genomic centres.
PMID:32714564
Transcriptome sequencing identifies a noncoding, deep intronic variant in CLCN7 causing autosomal recessive osteopetrosis.
PMID:32691986
Secondary findings in inherited heart conditions: a genotype-first feasibility study to assess phenotype, behavioural and psychosocial outcomes.
PMID:32686758
Transcriptome analysis of the zebrafish atoh7-/- Mutant, lakritz, highlights Atoh7-dependent genetic networks with potential implications for human eye diseases.
PMID:32676583
SLC12A2 variants cause a neurodevelopmental disorder or cochleovestibular defect.
PMID:32658972
The frontiers of sequencing in undiagnosed neurodevelopmental diseases.
PMID:32599523
Transcriptional signatures of participant-derived neural progenitor cells and neurons implicate altered Wnt signaling in Phelan-McDermid syndrome and autism.
PMID:32560742
A structural variation reference for medical and population genetics.
PMID:32461652
Screening for primary immunodeficiency diseases by next-generation sequencing in early life.
PMID:32431812
Psychometric Study of the Social Responsiveness Scale in Phelan-McDermid Syndrome.
PMID:32406614
Developmental Support for Infants With Genetic Disorders.
PMID:32327449
A comparison of genomic diagnostics in adults and children with epilepsy and comorbid intellectual disability.
PMID:32238909
Genome-Wide Sequencing for Unexplained Developmental Disabilities or Multiple Congenital Anomalies: A Health Technology Assessment.
PMID:32194879
The greater inflammatory pathway-high clinical potential by innovative predictive, preventive, and personalized medical approach.
PMID:32140182
Enhancer Domains Predict Gene Pathogenicity and Inform Gene Discovery in Complex Disease.
PMID:32032514
Clinical exome sequencing as the first-tier test for diagnosing developmental disorders covering both CNV and SNV: a Chinese cohort.
PMID:32005694
Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism.
PMID:31981491
GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder.
PMID:31949314
Evidence for penetrance in patients without a family history of disease: a systematic review.
PMID:31937893
Outcomes of 4 years of molecular genetic diagnosis on a panel of genes involved in premature aging syndromes, including laminopathies and related disorders.
PMID:31829210
Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in SCN1A.
PMID:31814998
The Clinical Genome and Ancestry Report: An interactive web application for prioritizing clinically implicated variants from genome sequencing data with ancestry composition.
PMID:31691385
Dissecting the genetic basis of comorbid epilepsy phenotypes in neurodevelopmental disorders.
PMID:31653223
Genes essential for embryonic stem cells are associated with neurodevelopmental disorders.
PMID:31649057
Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data.
PMID:31607427
Contribution of retrotransposition to developmental disorders.
PMID:31604926
Genetic Counseling and Genome Sequencing in Pediatric Rare Disease.
PMID:31501267
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes.
PMID:31452935
A Genome Model to Explain Major Features of Neurodevelopmental Disorders in Newborns.
PMID:31391780
STXBP1-associated neurodevelopmental disorder: a comparative study of behavioural characteristics.
PMID:31387522
Implementation of a genomic medicine multi-disciplinary team approach for rare disease in the clinical setting: a prospective exome sequencing case series.
PMID:31345272
Rare Genetic Variation in 135 Families With Family History Suggestive of X-Linked Intellectual Disability.
PMID:31316545
A genome-wide scan statistic framework for whole-genome sequence data analysis.
PMID:31289270
Clinically-relevant postzygotic mosaicism in parents and children with developmental disorders in trio exome sequencing data.
PMID:31278258
Increased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencing.
PMID:31231135
Exome-wide assessment of the functional impact and pathogenicity of multinucleotide mutations.
PMID:31227601
Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita.
PMID:31206972
De novo variants in CNOT3 cause a variable neurodevelopmental disorder.
PMID:31201375
Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP.
PMID:31147538
Whole-genome deep-learning analysis identifies contribution of noncoding mutations to autism risk.
PMID:31133750
Updating the neurodevelopmental profile of Alazami syndrome: Illustrating the role of developmental assessment in rare genetic disorders.
PMID:31074943
Exome Sequencing in Children.
PMID:31056085
The Convergence of Research and Clinical Genomics.
PMID:31051111
Case for genome sequencing in infants and children with rare, undiagnosed or genetic diseases.
PMID:31023718
Clinical application of next-generation sequencing to the practice of neurology.
PMID:30981321
Opportunities and Challenges for Molecular Understanding of Ciliopathies-The 100,000 Genomes Project.
PMID:30915099
A Syndromic Neurodevelopmental Disorder Caused by Mutations in SMARCD1, a Core SWI/SNF Subunit Needed for Context-Dependent Neuronal Gene Regulation in Flies.
PMID:30879640
Delineation of dominant and recessive forms of LZTR1-associated Noonan syndrome.
PMID:30859559
ITPase deficiency causes a Martsolf-like syndrome with a lethal infantile dilated cardiomyopathy.
PMID:30856165
Recent developments in genetic/genomic medicine.
PMID:30837331
Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature.
PMID:30739909
Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study.
PMID:30712880
De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms.
PMID:30679813
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
PMID:30665703
De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism.
PMID:30661772
Insights into genetics, human biology and disease gleaned from family based genomic studies.
PMID:30655598
ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.
PMID:30639322
Pathogenicity and selective constraint on variation near splice sites.
PMID:30587507
De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders.
PMID:30532227
Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing.
PMID:30526634
Quantifying the contribution of recessive coding variation to developmental disorders.
PMID:30409806
Functional testing of a human PBX3 variant in zebrafish reveals a potential modifier role in congenital heart defects.
PMID:30355621
The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.
PMID:30349098
A new approach based on targeted pooled DNA sequencing identifies novel mutations in patients with Inherited Retinal Dystrophies.
PMID:30337596
Surveillance for variant CJD: should more children with neurodegenerative diseases have autopsies?
PMID:30337492
Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability.
PMID:30291340
Homozygosity mapping provides supporting evidence of pathogenicity in recessive Mendelian disease.
PMID:30279471
Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder.
PMID:30266093
Genome-Wide Array Analysis Reveals Novel Genomic Regions and Candidate Gene for Intellectual Disability.
PMID:30259421
Importance and usage of chromosomal microarray analysis in diagnosing intellectual disability, global developmental delay, and autism; and discovering new loci for these disorders.
PMID:30258496
Common genetic variants contribute to risk of rare severe neurodevelopmental disorders.
PMID:30258228
KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants.
PMID:30245513
The role of ARID1B, a BAF chromatin remodeling complex subunit, in neural development and behavior.
PMID:30149092
An integrated clinical program and crowdsourcing strategy for genomic sequencing and Mendelian disease gene discovery.
PMID:30131872
Computational resources associating diseases with genotypes, phenotypes and exposures.
PMID:30102366
Diagnostic value of partial exome sequencing in developmental disorders.
PMID:30091983
Rare Disease Diagnostics: A Single-center Experience and Lessons Learnt.
PMID:30089087
Rapid Paediatric Sequencing (RaPS): comprehensive real-life workflow for rapid diagnosis of critically ill children.
PMID:30049826
Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases.
PMID:30002876
Expanding the phenotype of the X-linked BCOR microphthalmia syndromes.
PMID:29974297
Whole-exome sequencing in intellectual disability; cost before and after a diagnosis.
PMID:29959382
SET de novo frameshift variants associated with developmental delay and intellectual disabilities.
PMID:29907757
When genomic medicine reveals misattributed genetic relationships-the debate about disclosure revisited.
PMID:29904162
The Genomic Consultation Service: A clinical service designed to improve patient selection for genome-wide sequencing in British Columbia.
PMID:29851296
De novo FBXO11 mutations are associated with intellectual disability and behavioural anomalies.
PMID:29796876
Molecular testing in holoprosencephaly.
PMID:29771000
A Next-Generation Sequencing Primer-How Does It Work and What Can It Do?
PMID:29761157
An analytical framework for whole-genome sequence association studies and its implications for autism spectrum disorder.
PMID:29700473
Valproate: life-saving, life-changing.
PMID:29700085
Collaborations in medical genetics: 10-Year history of an ongoing Vietnamese-North American Collaboration.
PMID:29663715
A homozygous variant disrupting the PIGH start-codon is associated with developmental delay, epilepsy, and microcephaly.
PMID:29573052
De novo mutations in regulatory elements in neurodevelopmental disorders.
PMID:29562236
Measuring and Estimating the Effect Sizes of Copy Number Variants on General Intelligence in Community-Based Samples.
PMID:29562078
Society and personal genome data.
PMID:29522190
Phenotype of CNTNAP1: a study of patients demonstrating a specific severe congenital hypomyelinating neuropathy with survival beyond infancy.
PMID:29511323
Managing Bardet-Biedl Syndrome-Now and in the Future.
PMID:29487844
New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies.
PMID:29464339
Paediatric genomics: diagnosing rare disease in children.
PMID:29398702
A high throughput screen for active human transposable elements.
PMID:29390960
Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders.
PMID:29323667
De novo variants in SETD1B are associated with intellectual disability, epilepsy and autism.
PMID:29322246
Phenotypic interpretation of complex chromosomal rearrangements informed by nucleotide-level resolution and structural organization of chromatin.
PMID:29321672
Framework for assessing individuals with rare genetic disorders associated with profound intellectual and multiple disabilities (PIMD): the example of Phelan McDermid Syndrome.
PMID:29265961
Preparing for genomic medicine: a real world demonstration of health system change.
PMID:29263830
Constellation: a tool for rapid, automated phenotype assignment of a highly polymorphic pharmacogene, CYP2D6, from whole-genome sequences.
PMID:29263805
Evolutionary Proteomics Uncovers Ancient Associations of Cilia with Signaling Pathways.
PMID:29257953
HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients.
PMID:29180823
Rare FMR1 gene mutations causing fragile X syndrome: A review.
PMID:29178241
Updated summary of genome editing technology in human cultured cells linked to human genetics studies.
PMID:29167553
Exome Pool-Seq in neurodevelopmental disorders.
PMID:29158550
Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis.
PMID:29095811
A Review of Recent Advances in Translational Bioinformatics: Bridges from Biology to Medicine.
PMID:29063562
Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability.
PMID:29021403
De novo mutations in HNRNPU result in a neurodevelopmental syndrome.
PMID:28944577
Disturbed chromosome segregation and multipolar spindle formation in a patient with CHAMP1 mutation.
PMID:28944241
Protein structure and phenotypic analysis of pathogenic and population missense variants in STXBP1.
PMID:28944233
Germline mutations affecting the histone H4 core cause a developmental syndrome by altering DNA damage response and cell cycle control.
PMID:28920961
Genomic medicine and data sharing.
PMID:28910995
MYT1L mutations cause intellectual disability and variable obesity by dysregulating gene expression and development of the neuroendocrine hypothalamus.
PMID:28859103
Detection of structural mosaicism from targeted and whole-genome sequencing data.
PMID:28855261
Opening Pandora's box?: ethical issues in prenatal whole genome and exome sequencing.
PMID:28695688
Ultra-sensitive Sequencing Identifies High Prevalence of Clonal Hematopoiesis-Associated Mutations throughout Adult Life.
PMID:28669404
Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric Medicine.
PMID:28567303
GeMSTONE: orchestrated prioritization of human germline mutations in the cloud.
PMID:28521008
Using high-resolution variant frequencies to empower clinical genome interpretation.
PMID:28518168
CAGI4 SickKids clinical genomes challenge: A pipeline for identifying pathogenic variants.
PMID:28512736
MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome.
PMID:28502612
Novel Causative Variants in DYRK1A, KARS, and KAT6A Associated with Intellectual Disability and Additional Phenotypic Features.
PMID:28496994
International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases.
PMID:28475856
Genome-wide analysis of gynecologic cancer: The Cancer Genome Atlas in ovarian and endometrial cancer.
PMID:28454214
Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families.
PMID:28397838
Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders.
PMID:28327575
Insights from early experience of a Rare Disease Genomic Medicine Multidisciplinary Team: a qualitative study.
PMID:28327571
PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features.
PMID:28327570
Returning genome sequences to research participants: Policy and practice.
PMID:28317033
Editing the genome of hiPSC with CRISPR/Cas9: disease models.
PMID:28303292
The Use of Next-Generation Sequencing for Research and Diagnostics for Intellectual Disability.
PMID:28250017
Genomic newborn screening: public health policy considerations and recommendations.
PMID:28222731
Integrating next-generation sequencing into pediatric oncology practice: An assessment of physician confidence and understanding of clinical genomics.
PMID:28192596
Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome.
PMID:28176767
Clinical and molecular consequences of disease-associated de novo mutations in SATB2.
PMID:28151491
Prevalence and architecture of de novo mutations in developmental disorders.
PMID:28135719
Prospective comparison of the cost-effectiveness of clinical whole-exome sequencing with that of usual care overwhelmingly supports early use and reimbursement.
PMID:28125081
Structural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disorders.
PMID:28053047
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.
PMID:28041643
De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome.
PMID:28017370
Rare and common epilepsies converge on a shared gene regulatory network providing opportunities for novel antiepileptic drug discovery.
PMID:27955713
Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals.
PMID:27915094
Open Targets: a platform for therapeutic target identification and validation.
PMID:27899665
The Monarch Initiative: an integrative data and analytic platform connecting phenotypes to genotypes across species.
PMID:27899636
The Human Phenotype Ontology in 2017.
PMID:27899602
Compound heterozygous variants in NBAS as a cause of atypical osteogenesis imperfecta.
PMID:27789416
Mutations in genes encoding condensin complex proteins cause microcephaly through decatenation failure at mitosis.
PMID:27737959
Neuropsychiatric aspects of 22q11.2 deletion syndrome: considerations in the prenatal setting.
PMID:27718271
Mutations in the HECT domain of NEDD4L lead to AKT-mTOR pathway deregulation and cause periventricular nodular heterotopia.
PMID:27694961
Clinical and genetic aspects of KBG syndrome.
PMID:27667800
Imprinting: the Achilles heel of trio-based exome sequencing.
PMID:27632685
Mutations in MBOAT7, Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features.
PMID:27616480
From Wet-Lab to Variations: Concordance and Speed of Bioinformatics Pipelines for Whole Genome and Whole Exome Sequencing.
PMID:27604516
Novel Genetic Associations and Range of Phenotypes in Children with Disorders of Sex Development and Neurodevelopment: Insights from the Deciphering Developmental Disorders Study.
PMID:27598577
Explorations to improve the completeness of exome sequencing.
PMID:27568008
De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females.
PMID:27550844
Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing.
PMID:27479907
Novel de novo EEF1A2 missense mutations causing epilepsy and intellectual disability.
PMID:27441201
De novo nonsense and frameshift variants of TCF20 in individuals with intellectual disability and postnatal overgrowth.
PMID:27436265
Defining the Clinical Value of a Genomic Diagnosis in the Era of Next-Generation Sequencing.
PMID:27362341
Mutations in HECW2 are associated with intellectual disability and epilepsy.
PMID:27334371
2014 Epilepsy Benchmarks Area IV: Limit or Prevent Adverse Consequence of Seizures and Their Treatment Across The Lifespan.
PMID:27330453
Exome Sequencing and the Management of Neurometabolic Disorders.
PMID:27276562
The Ensembl Variant Effect Predictor.
PMID:27268795
CNV analysis in Chinese children of mental retardation highlights a sex differentiation in parental contribution to de novo and inherited mutational burdens.
PMID:27257017
High expression of Y-box-binding protein 1 correlates with poor prognosis and early recurrence in patients with small invasive lung adenocarcinoma.
PMID:27217779
Exome Sequencing and Gene Prioritization Correct Misdiagnosis in a Chinese Kindred with Familial Amyloid Polyneuropathy.
PMID:27212199
Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2.
PMID:27171548
Capturing phenotypes for precision medicine.
PMID:27148566
Advances in understanding - genetic basis of intellectual disability.
PMID:27127621
A Clinician's perspective on clinical exome sequencing.
PMID:27126233
A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect.
PMID:27108798
Common and rare forms of diabetes mellitus: towards a continuum of diabetes subtypes.
PMID:27080136
A New, Atypical Case of Cobalamin F Disorder Diagnosed by Whole Exome Sequencing.
PMID:26997947
Human Knockout Carriers: Dead, Diseased, Healthy, or Improved?
PMID:26988438
Systematic identification of phenotypically enriched loci using a patient network of genomic disorders.
PMID:26980139
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
PMID:26938784
Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability.
PMID:26845106
De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations.
PMID:26833328
Integrating population variation and protein structural analysis to improve clinical interpretation of missense variation: application to the WD40 domain.
PMID:26740553
Deficiency of the myogenic factor MyoD causes a perinatally lethal fetal akinesia.
PMID:26733463
TRIO loss of function is associated with mild intellectual disability and affects dendritic branching and synapse function.
PMID:26721934
Newborn testing and screening by whole-genome sequencing.
PMID:26681311
Molecular diagnostic experience of whole-exome sequencing in adult patients.
PMID:26633545
PART of the WHOLE: A Case Study in Wellness-Oriented Personalized Medicine.
PMID:26604864
Principle of proportionality in genomic data sharing.
PMID:26593419
Next-generation diagnostics and disease-gene discovery with the Exomiser.
PMID:26562621
Human genotype-phenotype databases: aims, challenges and opportunities.
PMID:26553330
Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin-Siris syndrome.
PMID:26543203
Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families.
PMID:26437029
Novel genetic causes for cerebral visual impairment.
PMID:26350515
The DNA of a nation.
PMID:26310768
The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant.
PMID:26306646
Emergency medical genomes: a breakthrough application of precision medicine.
PMID:26229553
Phenotype-driven strategies for exome prioritization of human Mendelian disease genes.
PMID:26229552
Facilitating collaboration in rare genetic disorders through effective matchmaking in DECIPHER.
PMID:26220709
Cpipe: a shared variant detection pipeline designed for diagnostic settings.
PMID:26217397
The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities.
PMID:26166479
Exome Sequencing: Current and Future Perspectives.
PMID:26139844
The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease.
PMID:26119816
De novo, heterozygous, loss-of-function mutations in SYNGAP1 cause a syndromic form of intellectual disability.
PMID:26079862
Increased burden of de novo predicted deleterious variants in complex congenital diaphragmatic hernia.
PMID:26034137
Cognitive phenotypes and genomic copy number variations.
PMID:26010630
Potential research participants support the return of raw sequence data.
PMID:25995218
De novo point mutations in patients diagnosed with ataxic cerebral palsy.
PMID:25981959
Whole-exome sequencing identifies novel homozygous mutation in NPAS2 in family with nonobstructive azoospermia.
PMID:25956372
Attitudes of nearly 7000 health professionals, genomic researchers and publics toward the return of incidental results from sequencing research.
PMID:25920556
Structural variation mutagenesis of the human genome: Impact on disease and evolution.
PMID:25892534
Mosaic structural variation in children with developmental disorders.
PMID:25634561