Molecular Genetics & Genomic Medicine

Article	Citations
	121
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	45
Congenital adrenal hyperplasia due to two rare CYP21A2 variant alleles, including a novel attenuated CYP21A1P/CYP21A2 chimera	22
Mutation spectrum of congenital heart disease in a consanguineous Turkish population	20
Autism spectrum disorder profiles in RASopathies: A systematic review	19
Knowledge, Attitudes, and Practices of the General Population Regarding Peripheral Blood Chromosomal Testing in the Premarital or Preconception Context	18
Issue Information	16
A Novel Biallelic Variant in IHH Causing Acrocapitofemoral Dysplasia in a Pakistani Family	15
Exome sequencing and RNA analysis identify two novel CPLANE1 variants causing Joubert syndrome	15
Genetic of preimplantation diagnosis of dysmorphic facial features and intellectual developmental disorder (CHDFIDD) without congenital heart defects	15
Diagnosis and treatment of MN1 C‐terminal truncation syndrome	15
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	14
Exome sequencing‐aided precise diagnosis of four families with type I Stickler syndrome	14
Development of a Tagmentation‐Based Next‐Generation Sequencing Clinical Assay as an Alternative to Capillary Electrophoresis‐Based Sequencing	14
Genetic mutations in ribosomal biogenesis gene TCOF1 identified in human neural tube defects	14
Ten‐year follow‐up of Nicolaides–Baraitser syndrome with a de novo mutation and analysis of 58 gene loci of SMARCA2‐associated NCBRS	13
Not just a carrier: Clinical presentation and management of patients with heterozygous disease‐causing alkaline phosphatase (ALPL) variants identified through expanded carrier screening	13
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Loss‐of‐Function CARS1 Variants in a Patient With Microcephaly, Developmental Delay, and a Brittle Hair Phenotype	13
Newborn Screening for Isovaleric Acidemia: Treatment With Pivalate‐Generating Antibiotics Contributed to False C5‐Carnitine Positivity in a Chinese Population	13
Clinical findings from the landmark MEF2C‐related disorders natural history study	12
Issue Information	12
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Sequential application of copy number variation sequencing and quantitative fluorescence polymerase chain reaction in genetic analysis of miscarriage and stillbirth	12
First preimplantation genetic testing case of Meckel syndrome with a novel homozygous TXNDC15 variant in a non‐consanguineous Chinese family	12

Hyaline fibromatosis syndrome with a novel 4.41‐kb deletion in ANTXR2 gene: A case report and literature review	12
COPA syndrome caused by a novel p.Arg227Cys COPA gene variant	12
Recurrent human 16p11.2 microdeletions in type I Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome patients in Chinese Han population	12
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Frameshift Mutation in PAX2 Related to Focal Segmental Glomerular Sclerosis: A Case Report and Literature Review	11
Promoter hypermethylation of RARB and GSTP1 genes in plasma cell‐free DNA as breast cancer biomarkers in Peruvian women	11
Comprehensive characterization and building of National Registry of von Hippel–Lindau disease in Brazil	11
Correction to “In silico validation revealed the role of SCN5A mutations and their genotype–phenotype correlations in Brugada syndrome”	11
Adults with lysosomal storage diseases in the undiagnosed diseases network	11
Identification of a novel heterozygous PTH1R variant in a Chinese family with incomplete penetrance	11
Mutated neuron navigator 3 as a candidate gene for a rare neurodevelopmental disorder	11
Bedtime extended release cornstarch improves biochemical profile and sleep quality for patients with glycogen storage disease type Ia	11
Population‐based screening of Uruguayan Ashkenazi Jews for recurrent BRCA1 and BRCA2 pathogenic sequence variants	11
Systematic review on gene–sun exposure interactions in skin cancer	10
Social media use by patients with hypermobile Ehlers–Danlos syndrome	10
A homozygous stop codon in HORMAD2 in a patient with recurrent digynic triploid miscarriage	10
A monoallelic variant in EYA1 is associated with Branchio‐Otic syndrome in a Malian family	10
A novel heterozygous variant of FOXJ1 in a Chinese female with primary ciliary dyskinesia and hydrocephalus: A case report and literature review	10
A single heterozygous nonsense mutation in the TTC21B gene causes adult‐onset nephronophthisis 12: A case report and review of literature	10
Detection of pericentric inversion with breakpoint in DMD by whole genome sequencing	10
Prenatal whole‐exome sequencing in fetuses with increased nuchal translucency	10
Case report of a child with long QT syndrome type 14 caused by CALM1 gene mutation and literature review	10
The clinical, myopathological, and genetic analysis of 155 Chinese mitochondrial ophthalmoplegia patients with mitochondrial DNA single large deletions	9
Pyridoxine‐responsive KCNQ2 epileptic encephalopathy: Additional cases and literature review	9
Retraction: Forensic features and genetic background exploration of a new 47‐autosomal InDel panel in five representative Han populations residing in Northern China	9
Retraction: Population genetic analysis of Shaanxi male Han Chinese population reveals genetic differentiation and homogenization of East Asians	9
Comprehensive variant calling from whole‐genome sequencing identifies a complex inversion that disrupts ZFPM2 in familial congenital diaphragmatic hernia	9
Further delineation of Wiedemann‐Rautenstrauch syndrome linked with POLR3A	9
Retraction: Population genetics of 24 Y‐STR loci in Chinese Han population from Jilin Province, Northeast China	9
Characterization of a novel non‐canonical splice site variant (c.886‐5T>A) in NBAS and description of the associated phenotype	9
Issue Information	9
Issue Information	9
Congenital Hypotonia: Cracking a SAGA of consanguineous kindred harboring four genetic variants	9
Clinical report and genetic analysis of a Chinese patient with developmental and epileptic encephalopathy associated with novel biallelic variants in the ST3GAL3 gene	9
Identification of rare missense variants in the BSN gene co‐segregating with chronic otitis media in a consanguineous Pakistani family	9
Screening of Inherited Retinal Disease Patients in a Low‐Resource Setting Using an Augmented Next‐Generation Sequencing Panel	9
The significance of the fusion partner gene genomic neighborhood analysis in translocation‐defined tumors	8
Electronic Patient Portals as a Modality for Returning Reclassified Genetic Test Results	8
Studying carrier frequency of spinal muscular atrophy in the State of Qatar and comparison to other ethnic groups: Pilot study	8
Profiling of circulating chromosome 21‐encoded microRNAs, miR‐155, and let‐7c, in down syndrome	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
Deep Sequencing and Phenotyping in an Australian Tuberous Sclerosis Complex “No Mutations Identified” Cohort	8
Management of methylmalonic acidemia (MMA) with N‐carbamylglutamate: A case report from Italy	8
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Clinicopathological and genetic study of a rare occurrence: Malignant transformation of fibrous dysplasia of the jaws	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
A somatic splice‐site variant in PIK3R1 in a patient with vascular overgrowth and low immunoglobulin levels: A case report	8
Analysis of the clinical and genetic characteristics of a Chinese family with osteogenesis imperfecta type I	8

Expanding the clinical spectrum of autosomal‐recessive renal tubular dysgenesis: Two siblings with neonatal survival and review of the literature	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
Mutations obstructing ATP's emplacement in KIF2A nucleotide‐binding pocket causes parenchymal malformations, motor developmental delay, with intellectual disability	8
Distribution of vitamin D‐binding protein/group‐specific component gene subtypes in Kuwaiti population	8
Retraction: Genetic polymorphism and phylogenetic analyses of 21 non‐CODIS STR loci in a Chinese Han population from Shanghai	7
Pathogenicity of the LDLR c.97C>T (p.Gln33Ter) Mutation in Familial Hypercholesterolemia	7
The effect of a single SMARCA4 exon deletion on RNA splicing: Implications for variant classification	7
De Novo HNRNPU Pathogenic Variant Related to Developmental Epileptic Encephalopathy With Inherited KANSL1 Loss‐of‐Function Variant Resolved by RNA Analys	7
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
A novel unbalanced translocation between chromosomes 5p and 18q leading to dysmorphology and global developmental delay	7
Prenatal phenotype of Wolf–Hirschhorn syndrome: A case series and literature review	7
A novel UBAP1 truncated variant in a Chinese family with hereditary spastic paraplegia	7
First‐time application of droplet digital PCR for methylation testing of the 11p15.5 imprinting regions	7
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	7
De novo DYNC1H1 mutation causes infantile developmental and epileptic encephalopathy with brain malformations	7
Report of rare and novel mutations in candidate genes in a cohort of hearing‐impaired patients	7
Association Between KLF1, BCL11A and HBS1L‐MYB Polymorphisms and Phenotypes With β‐Thalassemia Patients in Hainan	7
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Evaluation of optical genome mapping for detecting chromosomal translocation in clinical cytogenetics	7
11q13.3q13.4 deletion plus 9q21.13q21.33 duplication in an affected girl arising from a familial four‐way balanced chromosomal translocation	7
Clinical and ocular abnormalities in DEGCAGS syndrome—Developmental delay with gastrointestinal, cardiovascular, genitourinary, and skeletal abnormalities	7
Exome sequencing findings in children with annular pancreas	7
Identification of variants in ACAN and PAPSS2 leading to spondyloepi(meta)physeal dysplasias in four Chinese families	7
Identifying a Novel Causal FAM83H Variant for Autosomal Dominant Amelogenesis Imperfecta Using Exome‐Sequencing	6
New Insight into the human genetic diversity in North African populations by genotyping of SNPs in DRD3, CSMD1 and NRG1 genes	6
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Expanding the mutational spectrum of ZTTK syndrome: A de novo variant with global developmental delay and malnutrition in a Chinese patient	6
Novel IRF6 variant in orofacial cleft patients from Durban, South Africa	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
A new genetic diagnosis strategy for paroxysmal kinesigenic dyskinesia: Targeted high‐throughput detection of PRRT2 gene c.649 locus	6
Clinical study and genetic analysis of Cornelia de Lange syndrome caused by a novel MAU2 gene variant in a Chinese boy	6
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Identification of a novel TSC1 gene variant in a patient with atypical vitiligo‐like skin lesions: Unveiling the hidden tuberous sclerosis complex	6
Massively parallel sequencing uncovered disease‐associated variant spectra of glucose‐6‐phosphate dehydrogenase deficiency, phenylketonuria and galactosemia in Vietnamese pregnant women	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
The role of vitamin D receptor and IL‐6 in COVID‐19	6
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Barriers and Facilitators to Participation in Clinical Trials Related to Familial Frontotemporal Dementia: A Qualitative Study	6
Diagnosis of Arboleda‐Tham syndrome by whole‐exome sequencing in an Asian girl with severe developmental delay	6
Prenatal diagnosis and preimplantation genetics testing of 3M syndrome in a Chinese family with novel biallelic variants of CUL7	6
ABCG2 polymorphisms and susceptibility to ARV‐associated hepatotoxicity	6
Next‐generation sequencing in identification of pathogenic variants in primary hyperoxaluria among 21 Egyptian families: Identification of two novel AGXT gene mutations	6
Two novel AMHR2 gene variants in monozygotic twins with persistent Müllerian duct syndrome: A case report and functional study	6
Psychological Distress and Quality of Life in Families With a Germline CDKN2A Pathogenic Variant	6
Retraction: Genetic diversity and phylogenetic structure of four Tibeto‐Burman‐speaking populations in Tibetan‐Yi corridor revealed by insertion/deletion polymorphisms	6
A novel missense variant in OTUD5 causes X‐linked multiple congenital anomalies‐neurodevelopmental syndrome	6
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Early cardiomyopathy without severe metabolic dysregulation in a patient with cblB‐type methylmalonic acidemia	6
Genetic and functional analyses detect an EXT1 splicing pathogenic variant in a Chinese hereditary multiple exostosis (HME) family	6
Hope, but never expect? Comparing parents' pre‐ and post‐disclosure attitudes toward return of results from diagnostic exome sequencing for their child	6
APOL1 polymorphisms are not influencing acute coronary syndrome risk in Czech males	6
Identification of Pathogenic Copy Number Variants in Mexican Patients With Inherited Retinal Dystrophies Applying an Exome Sequencing Data‐Based Read‐Depth Approach	6
Chinese familial central precocious puberty with hyperuricemia due to recurrent DLK1 mutation: Case report and review of the literature	5
Haplotype‐dependent HLA‐DRB1‐DQB1 susceptibility to occult HBV infection in Xi'an Han population	5
Case report: Compound heterozygous nonsense PCDH15 variant and a novel deep‐intronic variant in a Chinese child with profound hearing loss	5
Issue Information	5
Asymptomatic ASS1 carriers with high blood citrulline levels	5
Identifying patients with EVEN‐plus syndrome using exome sequencing and clinical feature analysis: A case report	5
Developmental and epileptic encephalopathy related to a heterozygous variant of the RHOBTB2 gene: A case report from French Guiana	5
The first glycine‐to‐tryptophan substitution in the COL1A1 gene identified in a patient with progressively‐deforming Osteogenesis imperfecta	5
Prevalence of Constitutional Pathogenic Variant in a Cohort of 348 Patients With Multiple Primary Cancer Addressed in Oncogenetic Consultation	5
Mutation spectrum of hearing loss patients in Northwest China: Identification of 20 novel variants	5
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Identification of De Novo Chromosomal Translocations Disrupting NIPBL in a Patient With Cornelia de Lange Syndrome by Full Genome Analysis	5
Whole exome sequencing identified a novel compound heterozygous variation in COL7A1 gene causing dystrophic epidermolysis bullosa	5
Noonan syndrome: rhGH treatment and PTPN11 mutation	5
Atypical phenotype of a patient with Bardet–Biedl syndrome type 4	5
Utility of whole‐exome sequencing for patients with multiple congenital anomalies with or without intellectual disability/developmental delay in East Asia population	5
Identification of a novel LMX1B nonsense variant associated with congenital talipes equinovarus by prenatal exome sequencing: A case report	5
A novel heterozygous ATP1A2 pathogenic variant in a Chinese child with MELAS‐like alternating hemiplegia	5
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A novel splicing mutation in 5'UTR of GJB1 causes X‐linked Charcot—Marie–tooth disease	5
A new line method; A direct test in spinal muscular atrophy screening for DBS	5
Atypical mandibulofacial dysostosis with microcephaly diagnosed through the identification of a novel pathogenic mutation in EFTUD2	5
Assessing population substructure in the Lebanese population: A population study using data on 23 autosomal short tandem repeats	5
Rapid Whole Genome Sequencing Uncovers a Triple Diagnosis: X‐Linked Chondrodysplasia Punctata, MECP2‐Related Disorder, and Mosaic Jacobs Syndrome	5
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Germline mutations in pediatric cancer cohort with mixed‐ancestry Mexicans	5
A novel splice‐site mutation in CHMP2B associated with frontotemporal dementia: The first report from China and literature review	5
The clinical utility of a risk‐modifying SNP to detect carriers for spinal muscular atrophy with increased sensitivity	5
46,XY/46,XY Chimerism: Prenatal Presentation and Postnatal Outcome	5
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Identification of a novel COL7A1 variant associated with dystrophic epidermolysis bullosa pruriginosa responding effectively to dupilumab	5
CircFOXM1 acts as a ceRNA to upregulate SMAD2 and promote the progression of nasopharyngeal carcinoma	5
Two Nonsense GLI3 Variants Are Identified in Two Chinese Families With Polydactyly	5
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Identification of genetic characteristics in pediatric epilepsy with focal cortical dysplasia type 2 using deep whole‐exome sequencing	5
Hereditary breast cancer next‐generation sequencing panel evaluation in the south region of Brazil: A novel BRCA2 candidate pathogenic variant is reported	5
NAT2 and CYP2E1 polymorphisms and antituberculosis drug‐induced hepatotoxicity in Peruvian patients	5
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Quality of life in children with Down syndrome and its association with parent and child demographic characteristics: Parent‐reported measures	5
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Mutation spectrum of non‐syndromic hearing loss in the UAE, a retrospective cohort study and literature review	5
Long‐read Oxford nanopore sequencing reveals a de novo case of complex chromosomal rearrangement involving chromosomes 2, 7, and 13	5
Decreased expression of autophagy‐related genes in the complete remission phase of acute myeloid leukemia	5
Approaches to Evaluate Whole Exome Sequencing Data That Incorporate Genetic Intolerance Scores for Congenital Anomalies, Including Intronic Regions Adjacent to Exons	4
The Functions and Implications of MicroRNAs in Premature Ovarian Insufficiency	4
Gene polymorphisms of cyclin‐dependent kinase inhibitor and matrix metalloproteinase‐9 in Sudanese patients with esophageal squamous cell carcinoma	4
Correction to “Analysis of the clinical and genetic characteristics of a Chinese family with osteogenesis imperfecta type I”	4
Identification of potential molecular mechanism related to craniofacial dysmorphism caused by FOXI3 deficiency	4
Novel biallelic mutations in TTC29 cause asthenoteratospermia and male infertility	4
KBG syndrome: Clinical features and molecular findings in seven unrelated Korean families with a review of the literature	4
Novel De Novo Intronic Variant of SYNGAP1 Associated With the Neurodevelopmental Disorders	4
Spinal muscular atrophy carrier frequency in Saudi Arabia	4
Autosomal recessive nonsyndromic hearing impairment in two Finnish families due to the population enriched CABP2 c.637+1G>T variant	4
Whole‐genome sequencing revealed a novel long‐range deletion mutation spanning GNAS in familial pseudohypoparathyroidism	4
Imputed expression of schizophrenia‐associated genes and cognitive measures in patients with schizophrenia	4
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A rare case of dysferlinopathy with paternal isodisomy for chromosome 2 determined by exome sequencing	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
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Issue Information	4
Novel compound heterozygous mutations of the FBP1 gene in a patient with hypoglycemia and lactic acidosis: A case report	4
Mutations in exon region of BRCA1‐related RING domain 1 gene and risk of breast cancer	4
New pathogenic variants in ARMC5 gene in a series of Italian patients affected by primary bilateral macronodular adrenocortical hyperplasia (PBMAH)	4
Congenital disorder of glycosylation with defective fucosylation 2 (FCSK gene defect): The third report in the literature with a mild phenotype	4
Mutation spectrum of retinoblastoma patients in Vietnam	4
A novel CLCNKB variant in a Chinese family with classic Bartter syndrome and prenatal genetic diagnosis	4
Reporting a Homozygous Case of Neurodevelopmental Disorder Associated With a Novel PRPF8 Variant	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
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Current status of beta‐thalassemia and its treatment strategies	4
Unveiling the Genetic and Phenotypic Landscape of a Chinese Cohort With Retinitis Pigmentosa	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
SRY+ Derivative X Chromosome in a Female With Apparently Typical Sexual Development	4
Examining neurodevelopmental problems in 15q11.2 (BP1‐BP2) copy number variation carriers at ages 9/12 and 18 in a Swedish twin sample	4
Identification of a de novo variant in the ASXL2 gene related to Shashi‐Pena syndrome	4
A De Novo Frameshift Variant in SMC1A Causes Non‐Classic Cornelia de Lange Syndrome With Epilepsy: A Case Report and Literature Review	4
The current benefit of genome sequencing compared to exome sequencing in patients with developmental or epileptic encephalopathies	4
A new syndromic case of hearing loss and ectodermal anomalies associated with a recurrent missense variation in GJB6 gene	4
Whole exome sequencing reveals several novel variants in congenital disorders of glycosylation and glycogen storage diseases in seven patients from Iran	4
Defective C3d caused by C3 p.W1034R in inherited atypical hemolytic uremic syndrome	4
Clinical characteristics of a case of multiple mitochondrial dysfunction syndrome 3	4
Evaluation of the clinical effects of non‐invasive prenatal screening for diseases associated with aneuploidy and copy number variation	4
A novel splicing variant of VCAN identified in a Chinese family initially diagnosed with familial exudative vitreoretinopathy	4
Issue Information	4
Clinical approach for managing patients with unexpected CDH1 mutations: A case report	4
Genome sequencing reveals novel noncoding variants in PLA2G6 and LMNB1 causing progressive neurologic disease	4
A new phenotype of EVEN‐PLUS syndrome in a Chinese family and literature review	4
Clinical report and genetic analysis of rare premature infant nephronophthisis caused by biallelic TTC21B variants	4
Allele‐specific long‐range sequencing as a method for ABO haplotyping in clinical blood group diagnosis and immunohematology research	4
Correction to “Phenotypic and Genetic Characteristics of 24 Cases of Early Infantile Epileptic Encephalopathy in East China, Including a Rare Case of Biallelic UGDH Mutations”	4
Targeted copy number variant identification across the neurodegenerative disease spectrum	4
Unraveling CBS Mutations and Their Clinical Impact in a Chinese Family With Classical Homocystinuria	4
Prevalence and clinical implications of germline mutations among Jordanian patients with ovarian cancer. The Jordanian exploratory cancer genetics (Jo‐ECAG) ovarian study	4
New insights from trio whole‐exome sequencing in the children with kidney disease: A single‐center retrospective cohort study	4
Targeted nanopore sequencing enables complete characterisation of structural deletions initially identified using exon‐based short‐read sequencing strategies	4
Novel homozygous nonsynonymous variant of CNNM4 gene in a Chinese family with Jalili syndrome	4
Systematic analysis of the causes of NIPS sex chromosome aneuploidy false‐positive results	4
Multicolor melting curve analysis discloses high carrier frequency of hearing loss‐associated variants among neonates in Jiangsu province	4
Association of family sequence similarity gene 13A gene polymorphism and interstitial lung disease susceptibility: A systematic review and meta‐analysis	4
Clinical characteristics and identification of a novel TGFB1 variant in three unrelated Chinese families with Camurati‐Engelmann disease	4
Expanding the genetic spectrum of giant axonal neuropathy: Two novel variants in Iranian families	3
Whole‐exome sequencing facilitates the differential diagnosis of Ehlers–Danlos syndrome (EDS)	3
Descriptive analysis of seizures and comorbidities associated with fragile X syndrome	3
Rapid and long‐lasting efficacy of high‐dose ambroxol therapy for neuronopathic Gaucher disease: A case report and literature review	3
Brainstem dominant form of X‐linked adrenoleukodystrophy with a novel ABCD1 missense variant: A case report and literature review	3
A case of congenital fiber‐type disproportion syndrome presenting dilated cardiomyopathy with ACTA1 mutation	3
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Phenotypic comparison of patients affected with DeSanto‐Shinawi syndrome: Point mutations in WAC gene versus a 10p12.1 microdeletion including WAC	3
A novel gain‐of‐function STAT3 variant in infantile‐onset diabetes associated with multiorgan autoimmunity	3
Diagnostic yield and clinical impact of chromosomal microarray analysis in autism spectrum disorder	3
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In silico validation revealed the role of SCN5A mutations and their genotype–phenotype correlations in Brugada syndrome	3
Identification of novel pathogenic variants of CUBN in patients with isolated proteinuria	3
A Novel Compound Heterozygous Variant in the ABHD12 Gene Cause PHARC Syndrome in a Chinese Family: The Proband Presenting New Genotype and Phenotype	3
Analysis of the Haematological Phenotype and Molecular Characteristics of Rare Abnormal Haemoglobin	3
A novel pathogenic variant located just upstream of the C‐terminal Ser423‐X‐Ser425 phosphorylation motif in SMAD3 causing Loeys–Dietz syndrome	3
Molecular heterogeneity of β‐thalassemia variants in the Eastern region of Morocco	3
Haplotypes of [‐794(CATT)5–8/‐173G>C] MIF gene polymorphisms and its soluble levels in cutaneous squamous cell carcinoma in western Mexican population	3
A novel 8.57‐kb deletion of the upstream region of PRKAR1A in a family with Carney complex	3
MiR‐191‐5p inhibits lung adenocarcinoma by repressing SATB1 to inhibit Wnt pathway	3