May 1, 2026The GigaAssay: A combined high throughput and highly accurate platform for variant classificationRead More
March 1, 2026Outcomes of kidney transplantation in three patients with single large-scale mitochondrial DNA deletion syndromesRead More
March 1, 2026Single nucleotide variants in UNC13C associated with neurodevelopmental disorders affect ethanol sensitivity in DrosophilaRead More
February 19, 2026Unbalanced chromatin binding of Polycomb complexes drives neurodevelopmental disordersRead More
February 15, 2026Xp22.33 Duplication Encompassing PAR1 in a Male with Syndromic Neurodevelopmental Disorder and Tall StatureRead More
January 7, 2026Correction: GRIN2A null variants confer a high risk for early-onset schizophrenia and other mental disorders and potentially enable precision therapyRead More
January 1, 2026WNT4 deficiency impacts heart, diaphragm, and palate development: Insights from human genetics, machine learning, and mouse modelsRead More
January 1, 2026Variants in DENND2B are associated with vulnerability for neurodevelopmental impairment, psychosis and catatoniaRead More
December 31, 2025An integrated platform for concurrent structural and single-nucleotide variants improves copy-number detection and reveals pathogenic alleles in undiagnosed Mendelian familiesRead More
December 27, 2025Loss of the maternal effect gene NLRP2 impairs embryonic and extra-embryonic development, revealing a novel genetic cause of congenital anomalies†Read More
December 9, 2025Non-isolated Dandy-Walker malformation: Exome sequencing efficacy and phenotypic expansionsRead More
November 26, 2025Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathiesRead More
November 1, 2025High-throughput characterization of 5886 HER2 variants identifies 112 new in cellulo gain-of-function mutationsRead More
November 1, 2025Detecting mitochondrial electron transport chain enzyme defects in low-heteroplasmy single large-scale mtDNA deletion syndromes (SLSMDSs)Read More
October 27, 2025Heterozygous loss of SRRM1 may be associated with neurodevelopmental phenotypes and anomalies in cell growth and neurite morphologyRead More
October 24, 2025Whole-genome sequencing reveals individual and cohort level insights into chromosome 9p syndromesRead More
October 22, 2025A quantitative, Bayesian-informed approach to gene-specific variant classification: Updated Expert Panel recommendations improve classification of TP53 germline variants for Li-Fraumeni syndromeRead More
October 14, 2025GRIN2A null variants confer a high risk for early-onset schizophrenia and other mental disorders and potentially enable precision therapyRead More
October 6, 2025Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early-Onset ParkinsonismRead More
October 1, 2025Biochemical and clinical response to a sulfur-restricted diet in ethylmalonic encephalopathyRead More
September 29, 2025Pathogenicity of Mediator Complex Subunit 27 (MED27) in a Neurodevelopmental Disorder with Cerebellar AtrophyRead More
September 8, 2025Computationally resolved neuroprogenitor cell biomarkers associate with human disordersRead More
September 6, 2025Clinical exome sequencing efficacy and phenotypic expansions involving non-isolated congenital anomalies of kidney and urinary tract (CAKUT+)Read More
August 12, 2025Non-isolated tetralogy of fallot (TOF+): exome sequencing efficacy and phenotypic expansionsRead More
July 15, 2025EPHA4 signaling dysregulation links abnormal locomotion and the development of idiopathic scoliosisRead More
July 11, 2025The UBE3A-ATS antisense oligonucleotide rugonersen in children with Angelman syndrome: a phase 1 trialRead More
June 24, 2025Survey and improvement strategies for gene prioritization with large language modelsRead More
June 5, 2025Loss of function of the zinc finger homeobox 4 gene, ZFHX4, underlies a neurodevelopmental disorderRead More
June 1, 2025Distinct rates of VUS reclassification are observed when subclassifying VUS by evidence levelRead More
May 27, 2025Diagnostic Yield of Exome Sequencing for Pregnancies With and Without Fetal Anomalies and for StillbirthRead More
May 22, 2025Untargeted proteomics enables ultra-rapid variant prioritisation in mitochondrial and other rare diseasesRead More
April 1, 2025De novo variants in RYBP are associated with a severe neurodevelopmental disorder and congenital anomaliesRead More
March 20, 2025Autosomal dominant HK1-related neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA): An emerging mitochondrial disorderRead More
March 10, 2025Unraveling the Molecular and Clinical Consequences of an Intragenic TRIP12 Duplication Using Genomic and RNA AnalysesRead More
March 4, 2025Experiences from dual genome next-generation sequencing panel testing for mitochondrial disorders: a comprehensive molecular diagnosisRead More
March 1, 2025Untargeted metabolomics analysis as a potential screening tool for 3-methylglutaconic aciduria syndromesRead More
February 17, 2025RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSSRead More
February 2, 2025MAJIQ-CLIN: A novel tool for the identification of Mendelian disease-causing variants from RNA-Seq dataRead More
January 30, 2025De Novo Chromosomes 3q and 5q Chromothripsis Leads to a 5q14.3 Microdeletion Syndrome Presentation: Case Report and Review of the LiteratureRead More
January 9, 2025Bone marrow transplantation reverses metabolic alterations in multiple sulfatase deficiency: a case seriesRead More
January 1, 2025Microduplications of ARID1A and ARID1B cause a novel clinical and epigenetic distinct BAFopathyRead More
January 1, 2025Detection of Clinically Relevant Monogenic Copy-Number Variants by a Comprehensive Genome-Wide Microarray with Exonic CoverageRead More
January 1, 2025Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a severe developmental disorder spectrumRead More
December 1, 2024TFAP2E is implicated in central nervous system, orofacial and maxillofacial anomaliesRead More
December 1, 2024RFC2 may contribute to the pathogenicity of Williams syndrome revealed in a zebrafish modelRead More
November 1, 2024Loss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephalyRead More
November 1, 2024Leveraging the T2T assembly to resolve rare and pathogenic inversions in reference genome gapsRead More
November 1, 2024Brain abscesses, neutropenia, and B-ALL: Multiple testing modalities required to confirm PDCD10 and ETV6 dual diagnosesRead More
October 18, 2024Behavioral screening reveals a conserved residue in Y-Box RNA-binding protein required for associative learning and memory in C. elegansRead More
September 20, 2024Loss-of-function variants in CUL3 cause a syndromic neurodevelopmental disorderRead More
September 10, 2024Genomic Balancing Act: deciphering DNA rearrangements in the complex chromosomal aberration involving 5p15.2, 2q31.1, and 18q21.32Read More
September 10, 2024Comparing the diagnostic yield of germline exome versus panel sequencing in the diverse population of the Texas KidsCanSeq pediatric cancer studyRead More
September 8, 2024Project GIVE: using a virtual genetics service platform to reduce health inequities and improve access to genomic care in an underserved region of TexasRead More
August 30, 2024MED12 Loss-of-Function Variants as a Cause of Congenital Diaphragmatic Hernia in Females With Hardikar Syndrome and Nonspecific Intellectual DisabilityRead More
August 21, 2024The challenges and opportunities of offering and integrating training in clinical molecular genetics and clinical cytogenetics: A survey of LGG Fellowship Program DirectorsRead More
August 21, 2024Recurrent carotid paragangliomas in a syndromic patient with a heterozygous missense variant in DNA Methyltransferase 3 AlphaRead More
August 1, 2024Promoting international, locally focused, and patient-oriented genetic counselingRead More
July 10, 2024Monoallelic de novo AJAP1 loss-of-function variants disrupt trans-synaptic control of neurotransmitter releaseRead More
July 7, 2024Exploring the complexity of systemic sclerosis etiology by trio whole genome sequencingRead More
July 1, 2024Novel protein-truncating variants of a chromatin-modifying gene MSL2 in syndromic neurodevelopmental disordersRead More
July 1, 2024Homozygous missense variants in YKT6 result in loss of function and are associated with developmental delay, with or without severe infantile liver disease and risk for hepatocellular carcinomaRead More
July 1, 2024Clinical exome sequencing uncovers genetic disorders in neonates with suspected hypoxic-ischemic encephalopathy: A retrospective analysisRead More
June 18, 2024Succinic semialdehyde dehydrogenase deficiency: a metabolic and genomic approach to diagnosisRead More
June 1, 2024Improving access to exome sequencing in a medically underserved population through the Texome ProjectRead More
May 16, 2024Loss-of-function mutation in DDX53 associated with hereditary spastic paraplegia-like disorderRead More
May 8, 2024Exome sequencing implicates ancestry-related Mendelian variation at SYNE1 in childhood-onset essential hypertensionRead More
May 2, 2024Behavioral screening of conserved RNA-binding proteins reveals CEY-1/YBX RNA-binding protein dysfunction leads to impairments in memory and cognitionRead More
April 8, 2024The clinical utility and diagnostic implementation of human subject cell transdifferentiation followed by RNA sequencingRead More
April 3, 2024NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxyRead More
March 5, 2024High Clinical Exome Sequencing Diagnostic Rates and Novel Phenotypic Expansions for Nonisolated Microphthalmia, Anophthalmia, and ColobomaRead More
March 1, 2024Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomaliesRead More
February 26, 2024Novel hemizygous single-nucleotide duplication in RPGR in a patient with retinal dystrophy and sensorineural hearing loss.Read More
February 14, 2024The impact of the Turkish population variome on the genomic architecture of rare disease traitsRead More
February 6, 2024Unraveling the genetic architecture of congenital vertebral malformation with reference to the developing spineRead More
February 6, 2024MATR3 pathogenic variants differentially impair its cryptic splicing repression functionRead More
February 1, 2024Prenatal diagnosis of polycystic kidney caused by biallelic hypomorphic variants in the PKD1 geneRead More
January 22, 2024SIGMA leverages protein structural information to predict the pathogenicity of missense variantsRead More
January 8, 2024Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiationRead More
December 14, 2023Intrafamilial phenotypic heterogeneity in siblings with pseudohypoparathyroidism 1B due to maternal STX16 deletionRead More
December 7, 2023RAB1A haploinsufficiency phenocopies the 2p14-p15 microdeletion and is associated with impaired neuronal differentiationRead More
November 1, 2023Monitoring the treatment of urea cycle disorders using phenylbutyrate metabolite analyses: Still many lessons to learnRead More
October 23, 2023Neurodevelopmental and other phenotypes recurrently associated with heterozygous BAZ2B loss-of-function variantsRead More
September 7, 2023Clinical exome sequencing efficacy and phenotypic expansions involving anomalous pulmonary venous returnRead More
August 23, 2023Precision therapy for a medically actionable ATP1A3 variant from a genomic medicine program in an underserved populationRead More
August 17, 2023Lunapark deficiency leads to an autosomal recessive neurodevelopmental phenotype with a degenerative course, epilepsy and distinct brain anomaliesRead More
August 2, 2023Integrative analysis of transcriptome dynamics during human craniofacial development identifies candidate disease genesRead More
August 1, 2023Monoallelic loss-of-function BMP2 variants result in BMP2-related skeletal dysplasia spectrumRead More
July 5, 2023Null and missense mutations of ERI1 cause a recessive phenotypic dichotomy in humansRead More
July 1, 2023YWHAE loss of function causes a rare neurodevelopmental disease with brain abnormalities in human and mouseRead More
June 1, 2023Evaluation of an automated genome interpretation model for rare disease routinely used in a clinical genetic laboratoryRead More
June 1, 2023Bi-allelic variants in HMGCR cause an autosomal-recessive progressive limb-girdle muscular dystrophyRead More
June 1, 2023Recurring germline mosaicism in a family due to reversion of an inherited derivative chromosome 8 from an 8;21 translocation with interstitial telomeric sequencesRead More
May 16, 2023The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorderRead More
May 5, 2023Chromosomal microarray analysis supplements exome sequencing to diagnose children with suspected inborn errors of immunityRead More
May 3, 2023SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disabilityRead More
May 1, 2023Cascade testing after exome sequencing: Retrospective analysis of linked family data at 2 US laboratoriesRead More
March 23, 2023Disease modeling of ADAMTS9-related nephropathy using kidney organoids reveals its roles in tubular cells and podocytesRead More
March 1, 2023High molecular diagnostic yields and novel phenotypic expansions involving syndromic anorectal malformationsRead More
March 1, 2023Expansion of the clinical and molecular spectrum of WWOX-related epileptic encephalopathyRead More
February 23, 2023Compound heterozygosity of a de novo submicroscopic deletion and an inherited frameshift pathogenic variant in the PKHD1 gene in a fetus with bilaterally enlarged and echogenic kidneys, enlarged abdomen and oligohydramniosRead More
February 17, 2023Alternative polyadenylation alters protein dosage by switching between intronic and 3’UTR sitesRead More
February 15, 2023KCNA1 gain-of-function epileptic encephalopathy treated with 4-aminopyridineRead More
February 1, 2023Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental conditionRead More
December 1, 2022A recurrent single-exon deletion in TBCK might be under-recognized in patients with infantile hypotonia and psychomotor delayRead More
December 1, 2022TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletionsRead More
November 30, 2022Loss of WNT4 in the gubernaculum causes unilateral cryptorchidism and fertility defectsRead More
November 1, 2022Functional characteristics of a broad spectrum of TBX6 variants in Mayer-Rokitansky-Küster-Hauser syndromeRead More
November 1, 2022Clinical exome sequencing uncovers a high frequency of Mendelian disorders in infants with stroke: A retrospective analysisRead More
October 26, 2022The multiple de novo copy number variant (MdnCNV) phenomenon presents with peri-zygotic DNA mutational signatures and multilocus pathogenic variationRead More
October 5, 2022De novo variants in FRMD5 are associated with developmental delay, intellectual disability, ataxia, and abnormalities of eye movementRead More
October 4, 2022Determining the Likelihood of Disease Pathogenicity Among Incidentally Identified Genetic Variants in Rare Dilated Cardiomyopathy-Associated GenesRead More
October 4, 2022Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathyRead More
October 1, 2022Biallelic variants in WARS1 cause a highly variable neurodevelopmental syndrome and implicate a critical exon for normal auditory functionRead More
September 30, 2022Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traitsRead More
September 22, 2022Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plusRead More
September 21, 2022Quantitation of Pyrimidine in Urine by Ultra-Performance Liquid Chromatography-Tandem Mass SpectrometryRead More
September 21, 2022Quantitation of Purine in Urine by Ultra-Performance Liquid Chromatography-Tandem Mass SpectrometryRead More
September 21, 2022Laboratory Diagnosis of Cerebral Creatine Deficiency Syndromes by Determining Creatine and Guanidinoacetate in Plasma and UrineRead More
August 12, 2022Variants in the zinc transporter TMEM163 cause a hypomyelinating leukodystrophyRead More
July 28, 2022Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER dataRead More
July 13, 2022Characterization of functionally deficient SIM2 variants found in patients with neurological phenotypesRead More
July 6, 2022Evidence for an association between Coffin-Siris syndrome and congenital diaphragmatic herniaRead More
June 24, 2022Clinical exome sequencing of 1000 families with complex immune phenotypes: Toward comprehensive genomic evaluationsRead More
May 22, 2022Untargeted metabolomic profiling in a patient with glycogen storage disease Ib receiving empagliflozin treatmentRead More
May 17, 2022Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohortRead More
May 4, 2022Mutations of the histone linker H1-4 in neurodevelopmental disorders and functional characterization of neurons expressing C-terminus frameshift mutant H1Read More
April 20, 2022Signal-to-Noise Analysis Can Inform the Likelihood That Incidentally Identified Variants in Sarcomeric Genes Are Associated with Pediatric CardiomyopathyRead More
April 13, 2022Emerging technologies for prenatal diagnosis: the application of whole genome and RNA sequencingRead More
April 8, 2022Best practices for the interpretation and reporting of clinical whole genome sequencingRead More
April 1, 2022Effective algorithm to differentiate NBS MCADD cases from carriers and non-carriers and an assessment of the utility of the second newborn screen for MCADDRead More
April 1, 2022Anaplastic meningioma in a 6-year-old with somatic YAP1::MAML2 fusion and multiple endocrine neoplasia type 4 (MEN4) syndromeRead More
March 17, 2022Non-cell-autonomous disruption of nuclear architecture as a potential cause of COVID-19-induced anosmiaRead More
March 16, 2022Biallelic CACNA2D1 loss-of-function variants cause early-onset developmental epileptic encephalopathyRead More
March 15, 2022Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseasesRead More
March 1, 2022Clinical exome sequencing data reveal high diagnostic yields for congenital diaphragmatic hernia plus (CDH+) and new phenotypic expansions involving CDHRead More
February 15, 2022Expanding the mutation and phenotype spectrum of MYH3-associated skeletal disordersRead More
February 14, 2022Novel CIC variants identified in individuals with neurodevelopmental phenotypesRead More
February 3, 2022Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorderRead More
February 1, 2022The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorderRead More
February 1, 2022Retrospective analysis of a clinical exome sequencing cohort reveals the mutational spectrum and identifies candidate disease-associated loci for BAFopathiesRead More
January 18, 2022Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiencyRead More
January 12, 2022Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variabilityRead More
January 1, 2022Perceptions and use of phenylbutyrate metabolite testing in urea cycle disorders: Results of a clinician survey and analysis of a centralized testing databaseRead More
January 1, 2022Clinical experience with non-invasive prenatal screening for single-gene disordersRead More
December 20, 2021Detection of low-level parental somatic mosaicism for clinically relevant SNVs and indels identified in a large exome sequencing datasetRead More
December 7, 2021De novo variants in H3-3A and H3-3B are associated with neurodevelopmental delay, dysmorphic features, and structural brain abnormalitiesRead More
November 24, 2021Metabolomics in Clinical Practice: Improving Diagnosis and Informing ManagementRead More
November 1, 2021Selection for or against escape from nonsense mediated decay is a novel signature for the detection of cancer genesRead More
September 30, 2021Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11Read More
September 29, 2021Contribution of uniparental disomy in a clinical trio exome cohort of 2675 patientsRead More
August 20, 2021A Case Series of Familial ARID1B Variants Illustrating Variable Expression and Suggestions to Update the ACMG CriteriaRead More
July 12, 2021Comparison of Untargeted Metabolomic Profiling vs Traditional Metabolic Screening to Identify Inborn Errors of MetabolismRead More
July 1, 2021Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalitiesRead More
June 3, 2021A human importin-β-related disorder: Syndromic thoracic aortic aneurysm caused by bi-allelic loss-of-function variants in IPO8Read More
June 1, 2021Commonalities across computational workflows for uncovering explanatory variants in undiagnosed casesRead More
June 1, 2021A rare description of pure partial trisomy of 16q12.2q24.3 and review of the literatureRead More
May 25, 2021Complicated Diagnosis and Treatment of HA20 due to Contiguous Gene Deletions involving 6q23.3Read More
May 22, 2021Genomic trajectory in leukemogenesis of myeloproliferative neoplasms: a case reportRead More
May 20, 2021Exome sequencing reveals genetic architecture in patients with isolated or syndromic short statureRead More
May 8, 2021PPP3CA truncating variants clustered in the regulatory domain cause early-onset refractory epilepsyRead More
April 19, 2021Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disordersRead More
April 8, 2021Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to painRead More
March 23, 2021Molecular characterisation of rare loss-of-function NPAS3 and NPAS4 variants identified in individuals with neurodevelopmental disordersRead More
March 3, 2021OTUD5 Variants Associated With X-Linked Intellectual Disability and Congenital MalformationRead More
March 3, 2021Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane traffickingRead More
March 1, 2021Hemophagocytic lymphohistiocytosis and myelodysplastic syndrome: a case report and review of the literatureRead More
February 17, 2021RCL1 copy number variants are associated with a range of neuropsychiatric phenotypesRead More
February 11, 2021Clinical characterization of individuals with the distal 1q21.1 microdeletionRead More
February 7, 2021Identification and characterization of novel ACD variants: modulation of TPP1 protein level offsets the impact of germline loss-of-function variants on telomere lengthRead More
February 4, 2021Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunctionRead More
January 28, 2021Absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy in folliculin-interacting protein 1 deficiencyRead More
January 14, 2021MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar HypoplasiaRead More
January 14, 2021Germline mutation in POLR2A: a heterogeneous, multi-systemic developmental disorder characterized by transcriptional dysregulationRead More
January 11, 2021Perturbations of genes essential for Müllerian duct and Wölffian duct development in Mayer-Rokitansky-Küster-Hauser syndromeRead More
January 7, 2021UBR7 functions with UBR5 in the Notch signaling pathway and is involved in a neurodevelopmental syndrome with epilepsy, ptosis, and hypothyroidismRead More
January 4, 2021Transcriptome-directed analysis for Mendelian disease diagnosis overcomes limitations of conventional genomic testingRead More
January 1, 2021Combined Genome Sequencing and RNA Analysis Reveals and Characterizes a Deep Intronic Variant in IGHMBP2 in a Patient With Spinal Muscular Atrophy With Respiratory Distress Type 1Read More
January 1, 2021A deep intronic variant is a common cause of OTC deficiency in individuals with previously negative genetic testingRead More
December 27, 2020Vertical transmission of a large calvarial ossification defect due to heterozygous variants of ALX4 and TWIST1Read More
November 13, 2020Genotype-phenotype study and expansion of ARL6IP1-related complicated hereditary spastic paraplegiaRead More
November 1, 2020Amino Acid-Level Signal-to-Noise Analysis Aids in Pathogenicity Prediction of Incidentally Identified TTN-Encoded Titin Truncating VariantsRead More
October 23, 2020Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and scienceRead More
September 24, 2020Deforming Polyarthritis in a North Indian Family-Clinical Expansion of STING-Associated Vasculopathy with Onset in Infancy (SAVI)Read More
September 15, 2020Phenotypic expansion in KIF1A-related dominant disorders: A description of novel variants and review of published casesRead More
August 5, 2020Untargeted metabolomics as an unbiased approach to the diagnosis of inborn errors of metabolism of the non-oxidative branch of the pentose phosphate pathwayRead More
July 29, 2020Variants in SCAF4 cause a neurodevelopmental disorder and are associated with impaired mRNA processingRead More
July 13, 2020Low-level parental somatic mosaic SNVs in exomes from a large cohort of trios with diverse suspected Mendelian conditionsRead More
July 9, 2020The expanding clinical phenotype of germline ABL1-associated congenital heart defects and skeletal malformations syndromeRead More
June 24, 2020CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indelsRead More
May 7, 2020Diagnostic yield and clinical impact of exome sequencing in early-onset scoliosis (EOS)Read More
April 1, 2020Biallelic variants in KYNU cause a multisystemic syndrome with hand hyperphalangismRead More
February 1, 2020Increased Moraxella and Streptococcus following severe bronchiolitis is associated with recurrent wheezingRead More
January 22, 2020Multiple mitochondrial dysfunctions syndrome 1: An unusual cause of developmental pulmonary hypertensionRead More
July 26, 2019A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencingRead More
May 17, 2019Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome casesRead More
May 8, 20192-pyrrolidinone and succinimide as clinical screening biomarkers for gaba-transaminase deficiency: anti-seizure medications impact accurate diagnosisRead More
February 28, 2019De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndromeRead More
January 28, 2019Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNARead More
October 1, 2018A metabolomic map of Zellweger spectrum disorders reveals novel disease biomarkersRead More
September 28, 2018Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorderRead More
September 14, 2018Misattributed parentage as an unanticipated finding during exome/genome sequencing: current clinical laboratory practices and an opportunity for standardizationRead More
March 1, 2018Disturbed phospholipid metabolism in serine biosynthesis defects revealed by metabolomic profilingRead More
May 3, 2010POLG1 p.R722H mutation associated with multiple mtDNA deletions and a neurological phenotypeRead More
