Molecular Genetics & Genomic Medicine

Article	Citations
	109
COPA syndrome caused by a novel p.Arg227Cys COPA gene variant	43
Exome sequencing‐aided precise diagnosis of four families with type I Stickler syndrome	22
Activity of daily living in mucopolysaccharidosis IVA patients: Evaluation of therapeutic efficacy	17
Homozygous TREM2 c.549del; p.(Leu184Serfs*5) variant causing Nasu‐Hakola disease in three siblings in a consanguineous Iraqi family: Case report and review of literature	17
Mutation spectrum of congenital heart disease in a consanguineous Turkish population	15
Recurrent human 16p11.2 microdeletions in type I Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome patients in Chinese Han population	15
Development of a Tagmentation‐Based Next‐Generation Sequencing Clinical Assay as an Alternative to Capillary Electrophoresis‐Based Sequencing	15
Clinical findings from the landmark MEF2C‐related disorders natural history study	14
First preimplantation genetic testing case of Meckel syndrome with a novel homozygous TXNDC15 variant in a non‐consanguineous Chinese family	14
Loss‐of‐Function CARS1 Variants in a Patient With Microcephaly, Developmental Delay, and a Brittle Hair Phenotype	14
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Newborn Screening for Isovaleric Acidemia: Treatment With Pivalate‐Generating Antibiotics Contributed to False C5‐Carnitine Positivity in a Chinese Population	14
Autism spectrum disorder profiles in RASopathies: A systematic review	14
Issue Information	13
Two novel presentations of KCNMA1‐related pathology––Expanding the clinical phenotype of a rare channelopathy	13
Ten‐year follow‐up of Nicolaides–Baraitser syndrome with a de novo mutation and analysis of 58 gene loci of SMARCA2‐associated NCBRS	13
Three de novo variants in KMT2A (MLL) identified by whole exome sequencing in patients with Wiedemann–Steiner syndrome	13
Diagnosis and treatment of MN1 C‐terminal truncation syndrome	13
Exome sequencing and RNA analysis identify two novel CPLANE1 variants causing Joubert syndrome	12
Genetic of preimplantation diagnosis of dysmorphic facial features and intellectual developmental disorder (CHDFIDD) without congenital heart defects	12
A Novel Biallelic Variant in IHH Causing Acrocapitofemoral Dysplasia in a Pakistani Family	12
Not just a carrier: Clinical presentation and management of patients with heterozygous disease‐causing alkaline phosphatase (ALPL) variants identified through expanded carrier screening	12
Sequential application of copy number variation sequencing and quantitative fluorescence polymerase chain reaction in genetic analysis of miscarriage and stillbirth	11
Congenital adrenal hyperplasia due to two rare CYP21A2 variant alleles, including a novel attenuated CYP21A1P/CYP21A2 chimera	11

Further delineation of Wiedemann‐Rautenstrauch syndrome linked with POLR3A	11
Systematic review on gene–sun exposure interactions in skin cancer	11
Hyaline fibromatosis syndrome with a novel 4.41‐kb deletion in ANTXR2 gene: A case report and literature review	11
Genetic mutations in ribosomal biogenesis gene TCOF1 identified in human neural tube defects	11
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Compound heterozygous null mutations of NOBOX in sisters with delayed puberty and primary amenorrhea	11
Knowledge, Attitudes, and Practices of the General Population Regarding Peripheral Blood Chromosomal Testing in the Premarital or Preconception Context	11
Molecular autopsy and clinical family screening in a case of sudden cardiac death reveals ACTN2 mutation related to hypertrophic/dilated cardiomyopathy and a novel LZTR1 variant associat	11
Case report of a child with long QT syndrome type 14 caused by CALM1 gene mutation and literature review	11
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A monoallelic variant in EYA1 is associated with Branchio‐Otic syndrome in a Malian family	10
Characterization of a novel non‐canonical splice site variant (c.886‐5T>A) in NBAS and description of the associated phenotype	10
Promoter hypermethylation of RARB and GSTP1 genes in plasma cell‐free DNA as breast cancer biomarkers in Peruvian women	10
A homozygous stop codon in HORMAD2 in a patient with recurrent digynic triploid miscarriage	10
Congenital Hypotonia: Cracking a SAGA of consanguineous kindred harboring four genetic variants	10
Detection of pericentric inversion with breakpoint in DMD by whole genome sequencing	10
Comprehensive characterization and building of National Registry of von Hippel–Lindau disease in Brazil	10
Identification of a novel heterozygous PTH1R variant in a Chinese family with incomplete penetrance	10
Social media use by patients with hypermobile Ehlers–Danlos syndrome	10
Pyridoxine‐responsive KCNQ2 epileptic encephalopathy: Additional cases and literature review	10
Adults with lysosomal storage diseases in the undiagnosed diseases network	10
Population‐based screening of Uruguayan Ashkenazi Jews for recurrent BRCA1 and BRCA2 pathogenic sequence variants	10
The clinical, myopathological, and genetic analysis of 155 Chinese mitochondrial ophthalmoplegia patients with mitochondrial DNA single large deletions	10
Bedtime extended release cornstarch improves biochemical profile and sleep quality for patients with glycogen storage disease type Ia	10
Fetal akinesia deformation sequence and massive perivillous fibrin deposition resulting in fetal death in six fetuses from one consanguineous couple, including literature review	9
Retraction: Population genetic analysis of Shaanxi male Han Chinese population reveals genetic differentiation and homogenization of East Asians	9
Prenatal whole‐exome sequencing in fetuses with increased nuchal translucency	9
Contribution of uniparental disomy in a clinical trio exome cohort of 2675 patients	9
Frameshift Mutation in PAX2 Related to Focal Segmental Glomerular Sclerosis: A Case Report and Literature Review	9
A novel heterozygous variant of FOXJ1 in a Chinese female with primary ciliary dyskinesia and hydrocephalus: A case report and literature review	9
Mutated neuron navigator 3 as a candidate gene for a rare neurodevelopmental disorder	9
A single heterozygous nonsense mutation in the TTC21B gene causes adult‐onset nephronophthisis 12: A case report and review of literature	9
Correction to “In silico validation revealed the role of SCN5A mutations and their genotype–phenotype correlations in Brugada syndrome”	9
HINT1 founder mutation causing axonal neuropathy with neuromyotonia in South America: A case report	8
Comprehensive variant calling from whole‐genome sequencing identifies a complex inversion that disrupts ZFPM2 in familial congenital diaphragmatic hernia	8
The significance of the fusion partner gene genomic neighborhood analysis in translocation‐defined tumors	8
Mutations obstructing ATP's emplacement in KIF2A nucleotide‐binding pocket causes parenchymal malformations, motor developmental delay, with intellectual disability	8
Expanding the genetic spectrum for Chinese familial hypercholesterolemia population with six genetic mutations identified using a next‐generation sequencing‐based laboratory‐developed screening test	8
Clinical report and genetic analysis of a Chinese patient with developmental and epileptic encephalopathy associated with novel biallelic variants in the ST3GAL3 gene	8
Estimate of genetic variants using CNV‐Seq for fetuses with oligohydramnios or polyhydramnios	8
Genetic diagnosis of Alport syndrome in 16 Chinese families	8
Distribution of vitamin D‐binding protein/group‐specific component gene subtypes in Kuwaiti population	8
Association of MMP1 and MMP3 haplotypes with myocardial infarction and echocardiographic parameters of the left ventricle	8
Genetic analysis and outcomes of Omani children with steroid‐resistant nephrotic syndrome	8
Management of methylmalonic acidemia (MMA) with N‐carbamylglutamate: A case report from Italy	8
Retraction: Forensic features and genetic background exploration of a new 47‐autosomal InDel panel in five representative Han populations residing in Northern China	8
Issue Information	8
Deep Sequencing and Phenotyping in an Australian Tuberous Sclerosis Complex “No Mutations Identified” Cohort	8
Expanding the clinical spectrum of autosomal‐recessive renal tubular dysgenesis: Two siblings with neonatal survival and review of the literature	8
Issue Information	8

A somatic splice‐site variant in PIK3R1 in a patient with vascular overgrowth and low immunoglobulin levels: A case report	8
Retraction: Population genetics of 24 Y‐STR loci in Chinese Han population from Jilin Province, Northeast China	8
Prenatal phenotype of Wolf–Hirschhorn syndrome: A case series and literature review	8
11q13.3q13.4 deletion plus 9q21.13q21.33 duplication in an affected girl arising from a familial four‐way balanced chromosomal translocation	7
The effect of a single SMARCA4 exon deletion on RNA splicing: Implications for variant classification	7
Association of NQO1 levels and its genetic polymorphism with susceptibility to methamphetamine dependence	7
Clinicopathological and genetic study of a rare occurrence: Malignant transformation of fibrous dysplasia of the jaws	7
Detection of mobile elements insertions for routine clinical diagnostics in targeted sequencing data	7
Analysis of the clinical and genetic characteristics of a Chinese family with osteogenesis imperfecta type I	7
Electronic Patient Portals as a Modality for Returning Reclassified Genetic Test Results	7
Pathogenicity of the LDLR c.97C>T (p.Gln33Ter) Mutation in Familial Hypercholesterolemia	7
Evaluation of optical genome mapping for detecting chromosomal translocation in clinical cytogenetics	7
Prenatal diagnosis of combined methylmalonic acidemia and homocystinuria cobalamin C type using clinical exome sequencing and targeted gene analysis	7
Exome sequencing findings in children with annular pancreas	7
The role of vitamin D receptor and IL‐6 in COVID‐19	7
A novel unbalanced translocation between chromosomes 5p and 18q leading to dysmorphology and global developmental delay	7
A novel UBAP1 truncated variant in a Chinese family with hereditary spastic paraplegia	7
Studying carrier frequency of spinal muscular atrophy in the State of Qatar and comparison to other ethnic groups: Pilot study	7
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Targeted gene sequencing of FYCO1 identified a novel mutation in a Pakistani family for autosomal recessive congenital cataract	7
Novel mutations of PMFBP1 in a man with acephalic spermatozoa defects	7
Retraction: Genetic polymorphism and phylogenetic analyses of 21 non‐CODIS STR loci in a Chinese Han population from Shanghai	7
First‐time application of droplet digital PCR for methylation testing of the 11p15.5 imprinting regions	7
Expanding the mutational spectrum of ZTTK syndrome: A de novo variant with global developmental delay and malnutrition in a Chinese patient	7
Report of rare and novel mutations in candidate genes in a cohort of hearing‐impaired patients	7
Profiling of circulating chromosome 21‐encoded microRNAs, miR‐155, and let‐7c, in down syndrome	7
Screening of Inherited Retinal Disease Patients in a Low‐Resource Setting Using an Augmented Next‐Generation Sequencing Panel	7
Identification of rare missense variants in the BSN gene co‐segregating with chronic otitis media in a consanguineous Pakistani family	7
Identification of variants in ACAN and PAPSS2 leading to spondyloepi(meta)physeal dysplasias in four Chinese families	7
Clinical and ocular abnormalities in DEGCAGS syndrome—Developmental delay with gastrointestinal, cardiovascular, genitourinary, and skeletal abnormalities	7
De novo DYNC1H1 mutation causes infantile developmental and epileptic encephalopathy with brain malformations	7
Germline mutations in pediatric cancer cohort with mixed‐ancestry Mexicans	6
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Early cardiomyopathy without severe metabolic dysregulation in a patient with cblB‐type methylmalonic acidemia	6
Retraction: Genetic diversity and phylogenetic structure of four Tibeto‐Burman‐speaking populations in Tibetan‐Yi corridor revealed by insertion/deletion polymorphisms	6
A Prenatal Ultrasound Study of Cerebral Cortical Sulci and Gyri Development in Fetuses With Overgrowth Syndrome and/or Cerebral Malformations due to Abnormalities in MTOR Pathway Genes	6
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New Insight into the human genetic diversity in North African populations by genotyping of SNPs in DRD3, CSMD1 and NRG1 genes	6
Psychological Distress and Quality of Life in Families With a Germline CDKN2A Pathogenic Variant	6
Detection of TSC1/TSC2 mosaic variants in patients with cardiac rhabdomyoma and tuberous sclerosis complex by hybrid‐capture next‐generation sequencing	6
Two novel AMHR2 gene variants in monozygotic twins with persistent Müllerian duct syndrome: A case report and functional study	6
Barriers and Facilitators to Participation in Clinical Trials Related to Familial Frontotemporal Dementia: A Qualitative Study	6
Novel insight into FCSK‐congenital disorder of glycosylation through a CRISPR‐generated cell model	6
A new patient with congenital myasthenic syndrome type 20 due to compound heterozygous missense SLC5A7 variants suggests trends in genotype–phenotype correlation	6
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Compound heterozygous KCNV2 variants contribute to cone dystrophy with supernormal rod responses in a Chinese family	6
Novel IRF6 variant in orofacial cleft patients from Durban, South Africa	6
Diagnosis of Arboleda‐Tham syndrome by whole‐exome sequencing in an Asian girl with severe developmental delay	6
ABCG2 polymorphisms and susceptibility to ARV‐associated hepatotoxicity	6
Identifying a Novel Causal FAM83H Variant for Autosomal Dominant Amelogenesis Imperfecta Using Exome‐Sequencing	6
Identification of Pathogenic Copy Number Variants in Mexican Patients With Inherited Retinal Dystrophies Applying an Exome Sequencing Data‐Based Read‐Depth Approach	6
Identification of a novel TSC1 gene variant in a patient with atypical vitiligo‐like skin lesions: Unveiling the hidden tuberous sclerosis complex	6
Identification and functional analysis of a novel de novo missense mutation located in the initiation codon of LAMP2 associated with early onset female Danon disease	6
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A novel missense variant in OTUD5 causes X‐linked multiple congenital anomalies‐neurodevelopmental syndrome	6
Massively parallel sequencing uncovered disease‐associated variant spectra of glucose‐6‐phosphate dehydrogenase deficiency, phenylketonuria and galactosemia in Vietnamese pregnant women	6
Issue Information	5
A novel heterozygous ATP1A2 pathogenic variant in a Chinese child with MELAS‐like alternating hemiplegia	5
Issue Information	5
CircFOXM1 acts as a ceRNA to upregulate SMAD2 and promote the progression of nasopharyngeal carcinoma	5
The clinical utility of a risk‐modifying SNP to detect carriers for spinal muscular atrophy with increased sensitivity	5
Noonan syndrome: rhGH treatment and PTPN11 mutation	5
Rapid high‐resolution melting method to identify human leukocyte antigen‐G (HLA‐G) 3′ untranslated region polymorphism +3142C/G (rs1063320)	5
Atypical mandibulofacial dysostosis with microcephaly diagnosed through the identification of a novel pathogenic mutation in EFTUD2	5
A novel splice‐site mutation in CHMP2B associated with frontotemporal dementia: The first report from China and literature review	5
Whole exome sequencing identified a novel compound heterozygous variation in COL7A1 gene causing dystrophic epidermolysis bullosa	5
Two Nonsense GLI3 Variants Are Identified in Two Chinese Families With Polydactyly	5
Heritability and genome‐wide association study of blood pressure in Chinese adult twins	5
Quality of life in children with Down syndrome and its association with parent and child demographic characteristics: Parent‐reported measures	5
Identification of De Novo Chromosomal Translocations Disrupting NIPBL in a Patient With Cornelia de Lange Syndrome by Full Genome Analysis	5
Issue Information	5
Assessing population substructure in the Lebanese population: A population study using data on 23 autosomal short tandem repeats	5
Prevalence of Constitutional Pathogenic Variant in a Cohort of 348 Patients With Multiple Primary Cancer Addressed in Oncogenetic Consultation	5
Identification of a novel LMX1B nonsense variant associated with congenital talipes equinovarus by prenatal exome sequencing: A case report	5
A novel splicing mutation in 5'UTR of GJB1 causes X‐linked Charcot—Marie–tooth disease	5
Issue Information	5
Identifying patients with EVEN‐plus syndrome using exome sequencing and clinical feature analysis: A case report	5
Decreased expression of autophagy‐related genes in the complete remission phase of acute myeloid leukemia	5
Hereditary breast cancer next‐generation sequencing panel evaluation in the south region of Brazil: A novel BRCA2 candidate pathogenic variant is reported	5
Prenatal diagnosis and preimplantation genetics testing of 3M syndrome in a Chinese family with novel biallelic variants of CUL7	5

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Case report: Compound heterozygous nonsense PCDH15 variant and a novel deep‐intronic variant in a Chinese child with profound hearing loss	5
APOL1 polymorphisms are not influencing acute coronary syndrome risk in Czech males	5
Clinical and molecular characterization of five Chinese patients with autosomal recessive osteopetrosis	5
Clinical study and genetic analysis of Cornelia de Lange syndrome caused by a novel MAU2 gene variant in a Chinese boy	5
Identification of a novel COL7A1 variant associated with dystrophic epidermolysis bullosa pruriginosa responding effectively to dupilumab	5
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Identification of genetic characteristics in pediatric epilepsy with focal cortical dysplasia type 2 using deep whole‐exome sequencing	5
Mutation spectrum of hearing loss patients in Northwest China: Identification of 20 novel variants	5
Developmental and epileptic encephalopathy related to a heterozygous variant of the RHOBTB2 gene: A case report from French Guiana	5
Chinese familial central precocious puberty with hyperuricemia due to recurrent DLK1 mutation: Case report and review of the literature	5
Rapid Whole Genome Sequencing Uncovers a Triple Diagnosis: X‐Linked Chondrodysplasia Punctata, MECP2‐Related Disorder, and Mosaic Jacobs Syndrome	5
Hope, but never expect? Comparing parents' pre‐ and post‐disclosure attitudes toward return of results from diagnostic exome sequencing for their child	5
Atypical phenotype of a patient with Bardet–Biedl syndrome type 4	5
Issue Information	5
Long‐read Oxford nanopore sequencing reveals a de novo case of complex chromosomal rearrangement involving chromosomes 2, 7, and 13	5
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Issue Information	5
Genetic and functional analyses detect an EXT1 splicing pathogenic variant in a Chinese hereditary multiple exostosis (HME) family	5
A new genetic diagnosis strategy for paroxysmal kinesigenic dyskinesia: Targeted high‐throughput detection of PRRT2 gene c.649 locus	5
Utility of whole‐exome sequencing for patients with multiple congenital anomalies with or without intellectual disability/developmental delay in East Asia population	5
Next‐generation sequencing in identification of pathogenic variants in primary hyperoxaluria among 21 Egyptian families: Identification of two novel AGXT gene mutations	5
Mutation spectrum of non‐syndromic hearing loss in the UAE, a retrospective cohort study and literature review	5
NAT2 and CYP2E1 polymorphisms and antituberculosis drug‐induced hepatotoxicity in Peruvian patients	5
Novel biallelic mutations in TTC29 cause asthenoteratospermia and male infertility	4
Unraveling CBS Mutations and Their Clinical Impact in a Chinese Family With Classical Homocystinuria	4
The Functions and Implications of MicroRNAs in Premature Ovarian Insufficiency	4
Targeted copy number variant identification across the neurodegenerative disease spectrum	4
Correction to “Analysis of the clinical and genetic characteristics of a Chinese family with osteogenesis imperfecta type I”	4
A novel splicing variant of VCAN identified in a Chinese family initially diagnosed with familial exudative vitreoretinopathy	4
Multicolor melting curve analysis discloses high carrier frequency of hearing loss‐associated variants among neonates in Jiangsu province	4
A novel CLCNKB variant in a Chinese family with classic Bartter syndrome and prenatal genetic diagnosis	4
Novel compound heterozygous mutations of the FBP1 gene in a patient with hypoglycemia and lactic acidosis: A case report	4
Clinical characteristics of a case of multiple mitochondrial dysfunction syndrome 3	4
Targeted nanopore sequencing enables complete characterisation of structural deletions initially identified using exon‐based short‐read sequencing strategies	4
Clinical report and genetic analysis of rare premature infant nephronophthisis caused by biallelic TTC21B variants	4
A De Novo Frameshift Variant in SMC1A Causes Non‐Classic Cornelia de Lange Syndrome With Epilepsy: A Case Report and Literature Review	4
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Issue Information	4
A new line method; A direct test in spinal muscular atrophy screening for DBS	4
Whole‐genome sequencing revealed a novel long‐range deletion mutation spanning GNAS in familial pseudohypoparathyroidism	4
Congenital disorder of glycosylation with defective fucosylation 2 (FCSK gene defect): The third report in the literature with a mild phenotype	4
Association of family sequence similarity gene 13A gene polymorphism and interstitial lung disease susceptibility: A systematic review and meta‐analysis	4
Genome sequencing reveals novel noncoding variants in PLA2G6 and LMNB1 causing progressive neurologic disease	4
Current status of beta‐thalassemia and its treatment strategies	4
Novel homozygous nonsynonymous variant of CNNM4 gene in a Chinese family with Jalili syndrome	4
Whole exome sequencing reveals several novel variants in congenital disorders of glycosylation and glycogen storage diseases in seven patients from Iran	4
A new syndromic case of hearing loss and ectodermal anomalies associated with a recurrent missense variation in GJB6 gene	4
Issue Information	4
Prevalence and clinical implications of germline mutations among Jordanian patients with ovarian cancer. The Jordanian exploratory cancer genetics (Jo‐ECAG) ovarian study	4
Mutations in exon region of BRCA1‐related RING domain 1 gene and risk of breast cancer	4
Early onset horizontal gaze palsy and progressive scoliosis due to a noncanonical splicing‐site variant and a missense variant in the ROBO3 gene	4
Clinical approach for managing patients with unexpected CDH1 mutations: A case report	4
The current benefit of genome sequencing compared to exome sequencing in patients with developmental or epileptic encephalopathies	4
The clinical value of optical genome mapping in the rapid characterization of RB1 duplication and 15q23q24.2 triplication, for more appropriate prenatal genetic counselling	4
Defective C3d caused by C3 p.W1034R in inherited atypical hemolytic uremic syndrome	4
Asymptomatic ASS1 carriers with high blood citrulline levels	4
Systematic analysis of the causes of NIPS sex chromosome aneuploidy false‐positive results	4
Spinal muscular atrophy carrier frequency in Saudi Arabia	4
SRY+ Derivative X Chromosome in a Female With Apparently Typical Sexual Development	4
A new phenotype of EVEN‐PLUS syndrome in a Chinese family and literature review	4
Reporting a Homozygous Case of Neurodevelopmental Disorder Associated With a Novel PRPF8 Variant	4
Imputed expression of schizophrenia‐associated genes and cognitive measures in patients with schizophrenia	4
Issue Information	4
Gene polymorphisms of cyclin‐dependent kinase inhibitor and matrix metalloproteinase‐9 in Sudanese patients with esophageal squamous cell carcinoma	4
Issue Information	4
Novel De Novo Intronic Variant of SYNGAP1 Associated With the Neurodevelopmental Disorders	4
Allele‐specific long‐range sequencing as a method for ABO haplotyping in clinical blood group diagnosis and immunohematology research	4
The first glycine‐to‐tryptophan substitution in the COL1A1 gene identified in a patient with progressively‐deforming Osteogenesis imperfecta	4
Identification of a de novo variant in the ASXL2 gene related to Shashi‐Pena syndrome	4
Identification of potential molecular mechanism related to craniofacial dysmorphism caused by FOXI3 deficiency	4
Individualised human phenotype ontology gene panels improve clinical whole exome and genome sequencing analytical efficacy in a cohort of developmental and epileptic encephalopathies	4
KBG syndrome: Clinical features and molecular findings in seven unrelated Korean families with a review of the literature	4
Mutation spectrum of retinoblastoma patients in Vietnam	4
Haplotype‐dependent HLA‐DRB1‐DQB1 susceptibility to occult HBV infection in Xi'an Han population	4
Allelic and genotypic frequencies of NAT2, CYP2E1, and AADAC genes in a cohort of Peruvian tuberculosis patients	4
Approaches to Evaluate Whole Exome Sequencing Data That Incorporate Genetic Intolerance Scores for Congenital Anomalies, Including Intronic Regions Adjacent to Exons	4