Molecular Genetics & Genomic Medicine

Article	Citations
Current status of beta‐thalassemia and its treatment strategies	60
The benefits and challenges of family genetic testing in rare genetic diseases—lessons from Fabry disease	29
Ex vivo model predicted in vivo efficacy of CFTR modulator therapy in a child with rare genotype	27
Dissecting human trophoblast cell transcriptional heterogeneity in preeclampsia using single‐cell RNA sequencing	26
Homozygous GDF2 nonsense mutations result in a loss of circulating BMP9 and BMP10 and are associated with either PAH or an “HHT‐like” syndrome in children	25
Autosomal dominant variants inFOXJ1causing primary ciliary dyskinesia in two patients with obstructive hydrocephalus	25
Clinicopathological and immunological characterization of RNA m6A methylation regulators in ovarian cancer	24
A multidisciplinary approach and consensus statement to establish standards of care for Angelman syndrome	23
Investigating the ACE2 polymorphisms in COVID‐19 susceptibility: An in silico analysis	22
Vanishing white matter: Eukaryotic initiation factor 2B model and the impact of missense mutations	19
Retracted: MiR‐485‐3p serves as a biomarker and therapeutic target of Alzheimer's disease via regulating neuronal cell viability and neuroinflammation by targeting AKT3	18
Loss of CDKN2A at chromosome 9 has a poor clinical prognosis and promotes lung cancer progression	16
SUMOylated Senataxin functions in genome stability, RNA degradation, and stress granule disassembly, and is linked with inherited ataxia and motor neuron disease	15
Gene correction of the CLN3 c.175G>A variant in patient‐derived induced pluripotent stem cells prevents pathological changes in retinal organoids	15
Panel‐based genetic testing for inherited retinal disease screening 176 genes	15
Detection of a mosaic CDKL5 deletion and inversion by optical genome mapping ends an exhaustive diagnostic odyssey	14
Missense variants in CTNNB1 can be associated with vitreoretinopathy—Seven new cases of CTNNB1‐associated neurodevelopmental disorder including a previously unreported retinal phenotype	14
Matching methods in precision oncology: An introduction and illustrative example	14
Clinical manifestation and phenotypic analysis of novel gene mutation in 28 Chinese children with hereditary spherocytosis	14
Defective INPP5E distribution in NPHP1‐related Senior–Loken syndrome	13
Evaluation of optical genome mapping for detecting chromosomal translocation in clinical cytogenetics	13
Alteration of PPAR‐GAMMA (PPARG; PPARγ) and PTEN gene expression in acute myeloid leukemia patients and the promising anticancer effects of PPARγ stimulation	13
A TNXB splice donor site variant as a cause of hypermobility type Ehlers–Danlos syndrome in patients with congenital adrenal hyperplasia	12
Patient with CATSPER3 mutations‐related failure of sperm acrosome reaction with successful pregnancy outcome from intracytoplasmic sperm injection (ICSI)	12
Increased diagnosis of enlarged vestibular aqueduct by multiplex PCR enrichment and next‐generation sequencing of the SLC26A4 gene	11

A novel mutation in PLS3 causes extremely rare X‐linked osteogenesis imperfecta	11
Genetic variants related to successful migraine prophylaxis with verapamil	11
Detection of germline mosaicism in fathers of children with intellectual disability syndromes caused by de novo variants	11
Different mutations in the MMUT gene are associated with the effect of vitamin B12 in a cohort of 266 Chinese patients with mut‐type methylmalonic acidemia: A retrospective study	11
Non‐invasive prenatal testing for the prenatal screening of sex chromosome aneuploidies: A systematic review and meta‐analysis of diagnostic test accuracy studies	11
Update of genetic variants in CEP120 and CC2D2A—With an emphasis on genotype‐phenotype correlations, tissue specific transcripts and exploring mutation specific exon skipping therapies	10
Analysis of X‐inactivation status in a Rett syndrome natural history study cohort	10
DYRK1A pathogenic variants in two patients with syndromic intellectual disability and a review of the literature	10
Whole‐exome sequencing identified first homozygous frameshift variant in the COLEC10 gene in an Iranian patient causing 3MC syndrome type 3	10
Detection of pericentric inversion with breakpoint in DMD by whole genome sequencing	10
Molecular and neurological features of MELAS syndrome in paediatric patients: A case series and review of the literature	10
Patients’ and caregivers’ maximum acceptable risk of death for non‐curative gene therapy to treat Duchenne muscular dystrophy	10
Variants of ATP1A3 in residue 756 cause a separate phenotype of relapsing encephalopathy with cerebellar ataxia (RECA)—Report of two cases and literature review	10
X‐chromosomal inactivation patterns in women with Fabry disease	9
Clinical and genetic characterization of ten Egyptian patients with Wolf–Hirschhorn syndrome and review of literature	9
Missense mutations in EDA and EDAR genes cause dominant syndromic tooth agenesis	9
Identification and characterization of six β‐crystallin gene mutations associated with congenital cataract in Chinese families	9
Family caregivers of rare disease: A survey on health‐related quality of life in family caregivers for Gaucher disease patients in China	9
Commonalities and distinctions between two neurodevelopmental disorder subtypes associated with SCN2A and SCN8A variants and literature review	9
Prevalence of Y chromosome microdeletion in azoospermia factor subregions among infertile men from West Bengal, India	9
The current benefit of genome sequencing compared to exome sequencing in patients with developmental or epileptic encephalopathies	9
Expanding the PURA syndrome phenotype: A child with the recurrent PURA p.(Phe233del) pathogenic variant showing similarities with cutis laxa	9
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	9
Genetic testing of UGT1A1 in the diagnosis of Gilbert syndrome: The discovery of seven novel variants in the Chinese population	9
Experiences of children and adolescents living with achondroplasia and their caregivers	9
Expanding the phenotype of CACNA1C mutation disorders	9
Expanding the clinical spectrum of autosomal‐recessive renal tubular dysgenesis: Two siblings with neonatal survival and review of the literature	9
Phenotypic heterogeneity in patients with NEFL‐related Charcot–Marie–Tooth disease	9
First reported CABP2‐related non‐syndromic hearing loss in Northern Europe	9
Hyaline fibromatosis syndrome with a novel 4.41‐kb deletion in ANTXR2 gene: A case report and literature review	9
Genetic and clinical characteristics of 24 mainland Chinese patients with CTNNB1 loss‐of‐function variants	9
Characterization of health concerns in people with neurofibromatosis type 1	9
Yield of array‐CGH analysis in Tunisian children with autism spectrum disorder	9
Prevalence and clinical/molecular characteristics of PTEN mutations in Turkish children with autism spectrum disorders and macrocephaly	9
More severe phenotype of early‐onset osteoporosis associated with recessive form ofLRP5and combination withDKK1orWNT3A	9
A 9‐month‐old Chinese patient with Gabriele‐de Vries syndrome due to novel germline mutation in the YY1 gene	9
Chorioretinal atrophy following voretigene neparvovec despite the presence of fundus autofluorescence	8
Novel homozygous pathogenic mitochondrial DNAJC19 variant in a patient with dilated cardiomyopathy and global developmental delay	8
CHL1 deletion is associated with cognitive and language disabilities – Case report and review of literature	8
A novel, likely pathogenic variant in UBTF‐related neurodegeneration with brain atrophy is associated with a severe divergent neurodevelopmental phenotype	8
CRISPR/Cas9 in zebrafish: An attractive model for FBN1 genetic defects in humans	8
Identification of two novel homozygous nonsense mutations in TRAPPC9 in two unrelated consanguineous families with intellectual Disability from Iran	8
Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms	8
Resource utilization and multidisciplinary care needs for patients with Ehlers–Danlos syndrome	8
Netherton syndrome caused by compound heterozygous mutation, c.80A>G mutation in SPINK5 and large‐sized genomic deletion mutation, and successful treatment of intravenous immunoglobulin	8
Novel SARS2 variants identified in a Chinese girl with HUPRA syndrome	8
Mutation spectrum of non‐syndromic hearing loss in the UAE, a retrospective cohort study and literature review	8
Heritability and genome‐wide association study of blood pressure in Chinese adult twins	8
Whole‐exome sequencing identified a novel homozygous ASPH frameshift variant causing Traboulsi syndrome in a Chinese family	8
A novel EDAR missense mutation identified by whole‐exome sequencing with non‐syndromic tooth agenesis in a Chinese family	8

Association of the STAT4, CDKN1A, and IRF5 variants with risk of lupus nephritis and renal biopsy classification in patients in Vietnam	8
Identification of nine novel variants across PAX3, SOX10, EDNRB, and MITF genes in Waardenburg syndrome with next‐generation seq	7
Early truncation of the N‐terminal variable region of EYA4 gene causes dominant hearing loss without cardiac phenotype	7
Exploring the characteristics and most bothersome symptoms in MECP2 duplication syndrome to pave the path toward developing parent‐oriented outcome measures	7
Detection of mobile elements insertions for routine clinical diagnostics in targeted sequencing data	7
Genetic testing users in Italy and Germany: Health orientation, health‐related habits, and psychological profile	7
Objective differential diagnosis of Noonan and Williams–Beuren syndromes in diverse populations using quantitative facial phenotyping	7
The use of telemedicine in cardiogenetics clinical practice during the COVID‐19 pandemic	7
Genetic testing and clinical relevance of patients with thoracic aortic aneurysm and dissection in northwestern China	7
Novel compound heterozygous frameshift variants in WDR81 associated with congenital hydrocephalus 3 with brain anomalies: First Chinese prenatal case confirms WDR81 involvement	7
A glimpse of the genetics of young‐onset Parkinson’s disease in Central Asia	7
Landscape of IDH1/2 mutations in Chinese patients with solid tumors: A pan‐cancer analysis	7
Clinical heterogeneity and intrafamilial variability of Joubert syndrome in two siblings with CPLANE1 variants	7
Total number of reads affects the accuracy of fetal fraction estimates in NIPT	7
Identification of novel ACAN mutations in two Chinese families and genotype–phenotype correlation in patients with 74 pathogenic ACAN variations	7
Neutrophil cytosolic factor 2 (NCF2) gene polymorphism is associated with juvenile‐onset systemic lupus erythematosus, but probably not with other autoimmune rheumatic diseases in children	7
Variable degree of mosaicism for tetrasomy 18p in phenotypically discordant monozygotic twins—Diagnostic implications	7
NAT2 and CYP2E1 polymorphisms and antituberculosis drug‐induced hepatotoxicity in Peruvian patients	7
The Rh blood group system and its role in alloimmunization rate among sickle cell disease and sickle thalassemia patients in Iran	7
Severe brain calcification and migraine headache caused by SLC20A2 and PDGFRB heterozygous mutations in a five‐year‐old Chinese girl	7
Deep phenotyping and whole‐exome sequencing improved the diagnostic yield for nuclear pedigrees with neurodevelopmental disorders	7
Analysis of TNFSF13B polymorphisms and BAFF expression in rheumatoid arthritis and primary Sjögren's syndrome patients	7
Association of long noncoding RNA MALAT1 polymorphisms with gastric cancer risk in Korean individuals	7
TH17/IL23 cytokine gene polymorphisms in bullous pemphigoid	7
Treacher Collins syndrome: Clinical report and retrospective analysis of Chinese patients	7
In silico modeling of the interaction between TEX19 and LIRE1, and analysis of TEX19 gene missense SNPs	7
Confirming the contribution and genetic spectrum of de novo mutation in infantile spasms: Evidence from a Chinese cohort	7
Next‐generation sequence‐based preimplantation genetic testing for monogenic disease resulting from maternal mosaicism	7
A case of congenital fiber‐type disproportion syndrome presenting dilated cardiomyopathy with ACTA1 mutation	6
FINCA syndrome—Defining neurobehavioral phenotype in survivors into late childhood	6
Informed consent practices for exome sequencing: An interview study with clinical geneticists in the Netherlands	6
Clinicopathological and genetic study of a rare occurrence: Malignant transformation of fibrous dysplasia of the jaws	6
Whole exome sequencing reveals a biallelic frameshift mutation in GRXCR2 in hearing impairment in Cameroon	6
Allelic and genotypic frequencies of NAT2, CYP2E1, and AADAC genes in a cohort of Peruvian tuberculosis patients	6
Two novel ectodysplasin A gene mutations and prenatal diagnosis of X‐linked hypohidrotic ectodermal dysplasia	6
The investigation of genetic and clinical features in patients with hereditary spastic paraplegia in central‐Southern China	6
Clinical value for the detection of fetal chromosomal deletions/duplications by noninvasive prenatal testing in clinical practice	6
Estimation on risk of spontaneous abortions by genomic disorders from a meta‐analysis of microarray results on large case series of pregnancy losses	6
SLC10A2 deficiency‐induced congenital chronic bile acid diarrhea and stunting	6
A novel heterozygous variant of the COL4A4 gene in a Chinese family with hematuria and proteinuria leads to focal segmental glomerulosclerosis and chronic kidney disease	6
Mutational spectrum of NF1 gene in 24 unrelated Egyptian families with neurofibromatosis type 1	6
Incidence and genetic variants of inborn errors of metabolism identified through newborn screening: A 7‐year study in eastern coastal areas of China	6
ARHGEF9 gene variant leads to developmental and epileptic encephalopathy: Genotypic phenotype analysis and treatment exploration	6
De novo DYNC1H1 mutation causes infantile developmental and epileptic encephalopathy with brain malformations	6
Association of ACE1 I/D rs1799752 and ACE2 rs2285666 polymorphisms with the infection and severity of COVID‐19: A meta‐analysis	6
Targeted exome analysis of Russian patients with hypertrophic cardiomyopathy	6
A novel fusion between CDC42BPB and ALK in a patient with quadruple wild‐type gastrointestinal stromal tumor	6
A +3 variant at a donor splice site leads to a skipping of the MYH11 exon 32, a recurrent RNA defect causing Heritable Thoracic Aortic Aneurysm and Dissection and/or Patent Ductus Arteriosus	6
Isobutyryl‐CoA dehydrogenase deficiency associated with autism in a girl without an alternative genetic diagnosis by trio whole exome sequencing: A case report	6
The association of lncRNA SNPs and SNPs‐environment interactions based on GWAS with HBV‐related HCC risk and progression	6
Frataxin deficiency alters gene expression in Friedreich ataxia derived IPSC‐neurons and cardiomyocytes	6
A novel frameshift mutation of DVL1‐induced Robinow syndrome: A case report and literature review	6
A novel missense variant in cathepsin C gene leads to PLS in a Chinese patient: A case report and literature review	6
SQSTM1 mutation: Description of the first Tunisian case and literature review	6
Novel frameshift mutation in PURA gene causes severe encephalopathy of unclear cause	6
Individual variability in human urinary metabolites identifies age‐related, body mass index‐related, and sex‐related biomarkers	6
Generalized Hailey–Hailey disease: Novel splice‐site mutations of ATP2C1 gene in Chinese population and a literature review	6
Spinal muscular atrophy carrier frequency in Saudi Arabia	6
Characterization of a novel COL10A1 variant associated with Schmid‐type metaphyseal chondrodysplasia and a literature review	6
Evaluation of rs1748195 ANGPTL3 gene polymorphism in patients with angiographic coronary artery disease compared to healthy individuals	6
Imputed expression of schizophrenia‐associated genes and cognitive measures in patients with schizophrenia	6
The effect of growth hormone treatment in children with novel BPTF gene variants: A report of two cases and literature review	6
Association of MACROD2 gene variants with obesity and physical activity in a Korean population	6
Clinical findings from the landmark MEF2C‐related disorders natural history study	6
Genetic analysis in Japanese patients with osteogenesis imperfecta: Genotype and phenotype spectra in 96 probands	6
Deletion of conserved non‐coding sequences downstream from NKX2‐1: A novel disease‐causing mechanism for benign hereditary chorea	6
Novel compound heterozygous STN1 variants are associated with Coats Plus syndrome	6
A novel de novo HDAC8 missense mutation causing Cornelia de Lange syndrome	5
A Leigh syndrome caused by compound heterozygous mutations on NDUFAF5 induce early infant death: A case report	5
Germline mutations in Chinese ovarian cancer with or without breast cancer	5
RETRACTED: Genetic structure and forensic characterization of 36 Y‐chromosomal STR loci in Tibeto‐Burman‐speaking Yi population	5
Novel compound heterozygous variants of TBXAS1 presenting with Ghosal hematodiaphyseal dysplasia treated with steroids	5
Blood group genotyping in alloimmunized multi‐transfused thalassemia patients from Iran	5
Whole exome sequencing is an alternative method in the diagnosis of mitochondrial DNA diseases	5
Novel and recurrent nuclear gene variations in a cohort of Chinese progressive external ophthalmoplegia patients with multiple mtDNA deletions	5
Recommendation of premarital genetic screening in the Syrian Jewish community based on mutation carrier frequencies within Syrian Jewish cohorts	5
MLPA followed by target‐NGS to detect mutations in the dystrophin gene of Peruvian patients suspected of DMD/DMB	5
Two novel presentations of KCNMA1‐related pathology––Expanding the clinical phenotype of a rare channelopathy	5
A novel TLE6 mutation, c.541+1G>A, identified using whole‐exome sequencing in a Chinese family with female infertility	5
Epimutation of MMACHC compound to a genetic mutation in cblC cases	5

Prenatal phenotype of Wolf–Hirschhorn syndrome: A case series and literature review	5
Combining bioinformatics analysis and experiments to explore CARNS1 as a prognostic biomarker for breast cancer	5
Interest of exome sequencing trio‐like strategy based on pooled parental DNA for diagnosis and translational research in rare diseases	5
Novel mutations of PMFBP1 in a man with acephalic spermatozoa defects	5
LncRNA‐H19 gene plays a significant role in regulating glioma cell function	5
A De Novo case of autosomal dominant mitochondrial membrane protein‐associated neurodegeneration	5
Novel homozygous protein‐truncating mutation of BBS9 identified in a Chinese consanguineous family with Bardet–Biedl syndrome	5
H19 gene polymorphisms and Wilms tumor risk in Chinese children: a four‐center case‐control study	5
Gene variants of unknown significance in Fabry disease: Clinical characteristics of c.376A>G (p.Ser126Gly)	5
Preparing genomic revolution: Attitudes, clinical practice, and training needs in delivering genetic counseling in primary care in Hong Kong and Shenzhen, China	5
Clinical and molecular characterization of five Chinese patients with autosomal recessive osteopetrosis	5
A review of causal discovery methods for molecular network analysis	5
Clinical phenotypes study of 231 children with Williams syndrome in China: A single‐center retrospective study	5
Novel homozygous variants in the TMC1 and CDH23 genes cause autosomal recessive nonsyndromic hearing loss	5
The impact of CYP19A1 variants and haplotypes on breast cancer risk, clinicopathological features and prognosis	5
Diagnostic yield of candidate genes in an Australian corneal dystrophy cohort	5
Phenotypes and genotypes in non‐consanguineous and consanguineous primary microcephaly: High incidence of epilepsy	5
Whole‐exome sequencing analysis in 10 families of sporadic microtia with thoracic deformities	5
Duplication of 9p24.3 in three unrelated patients and their phenotypes, considering affected genes, and similar recurrent variants	5
Clinical and genetic analysis of classical Ehlers‐Danlos syndrome patient caused by synonymous mutation in COL5A2	5
Genetic and clinical spectrums in Korean Charcot‐Marie‐Tooth disease patients with myelin protein zero mutations	5
Identification of novel mutation in RANKL by whole‐exome sequencing in a Thai family with osteopetrosis; a case report and review of RANKL osteopetrosis	5
Comprehensive variant calling from whole‐genome sequencing identifies a complex inversion that disrupts ZFPM2 in familial congenital diaphragmatic hernia	5
A genotype and phenotype analysis of SMAD6 mutant patients with radioulnar synostosis	5
Costello syndrome with special cutaneous manifestations and HRAS G12D mutation: A case report and literature review	5
Congenital Hypotonia: Cracking a SAGA of consanguineous kindred harboring four genetic variants	5
Phenylketonuria in Portugal: Genotype–phenotype correlations using molecular, biochemical, and haplotypic analyses	5
Exome sequencing and RNA analysis identify two novel CPLANE1 variants causing Joubert syndrome	5
Exome sequencing identifies a disease variant of the mitochondrial ATP‐Mg/Pi carrier SLC25A25 in two families with kidney stones	5
A novel and recurrent KLHL40 pathogenic variants in a Chinese family of multiple affected neonates with nemaline myopathy 8	5
Developmental and epileptic encephalopathy related to a heterozygous variant of the RHOBTB2 gene: A case report from French Guiana	5
Mutation spectrum in a cohort with familial exudative vitreoretinopathy	5
Vitamin D status and CYP27B1‐1260 promoter polymorphism in Tunisian patients with systemic lupus erythematosus	5
A study of elective genome sequencing and pharmacogenetic testing in an unselected population	5
Polymorphisms in NQO1 and MPO genes and risk for bladder cancer in Tunisian population	5
New insights from trio whole‐exome sequencing in the children with kidney disease: A single‐center retrospective cohort study	5
The associations of CNR1 SNPs and haplotypes with vulnerability and treatment response phenotypes in Han Chinese with major depressive disorder: A case–control association study	5
Association of MMP1 and MMP3 haplotypes with myocardial infarction and echocardiographic parameters of the left ventricle	5
A novel pathogenic splice site variation in STK11 gene results in Peutz–Jeghers syndrome	5
Rare variant (p.Ser43Asn) of familial transthyretin amyloidosis associated with isolated cardiac phenotype: A case series with literature review	5
Mitochondrial DNA insert into CD40 ligand gene‐associated X‐linked hyper‐IgM syndrome	5
Contribution of uniparental disomy in a clinical trio exome cohort of 2675 patients	5
	4
Risk‐reducing mastectomy decisions among women with mutations in high‐ and moderate‐ penetrance breast cancer susceptibility genes	4
Treatment efficacy of high‐dose creatine supplementation in a child with creatine transporter (SLC6A8) deficiency	4
LZTR1‐related spinal schwannomatosis and 7q11.23 duplication syndrome: A complex phenotype with dual diagnosis	4
Copy number variations residing outside the SHOX enhancer region are involved in Short Stature and Léri‐Weill dyschondrosteosis	4
Genome sequencing reveals novel noncoding variants in PLA2G6 and LMNB1 causing progressive neurologic disease	4
De novo mutation in KITLG gene causes a variant of Familial Progressive Hyper‐ and Hypo‐pigmentation (FPHH)	4
HINT1 founder mutation causing axonal neuropathy with neuromyotonia in South America: A case report	4
DNA methylation of tumour necrosis factor (TNF) alpha gene is associated with specific blood fatty acid levels in a gender‐specific manner	4
Trio‐WES reveals a novel de novo missense mutation of KMT2A in a Chinese patient with Wiedemann‐Steiner syndrome: A case report	4
Whole‐exome sequencing facilitates the differential diagnosis of Ehlers–Danlos syndrome (EDS)	4
KBG syndrome: Clinical features and molecular findings in seven unrelated Korean families with a review of the literature	4
Low‐level germline mosaicism of a novel SMARCA2 missense variant: Expanding the phenotypic spectrum and mode of genetic transmission	4
A nonsense mutation inMMEgene associates with autosomal recessive late‐onsetCharcot–Marie–Toothdisease	4
Report of rare and novel mutations in candidate genes in a cohort of hearing‐impaired patients	4
Asymptomatic ASS1 carriers with high blood citrulline levels	4
Identification of a novel heterozygous SOX9 variant in a Chinese family with congenital heart disease	4
Identification of rare heterozygous linkage R965C‐R1309H mutations in the pore‐forming region of SCN5A gene associated with complex arrhythmia	4
Germline mutations in homologous recombination repair genes among Chinese pancreatic ductal adenocarcinoma patients detected using next‐generation sequencing	4
The role of vitamin D receptor and IL‐6 in COVID‐19	4
Identification of a novel microdeletion causative of Nance‐Horan syndrome	4
Estimate of genetic variants using CNV‐Seq for fetuses with oligohydramnios or polyhydramnios	4
Case report of the first molecular diagnosis of Stickler syndrome with a pathogenic COL2A1 variant in a Mongolia family	4
Congenital cataract: An ocular manifestation of classical homocystinuria	4
NOTCH1: Review of its role in lymphatic development and study of seven families with rare pathogenic variants	4
A novel CEP57 variant associated with mosaic variegated aneuploidy syndrome in a Chinese female presenting with short stature, microcephaly, brachydactyly, and small teeth	4
A novel variant in ALG1 gene associated with congenital disorder of glycosylation: A case report and short literature review	4
Analysis of L1CAM gene mutation and imaging appearance in three Chinese families with L1 syndrome: Three case reports	4
Phenotype and genotype spectrum of variants in guanine nucleotide exchange factor genes in a broad cohort of Iranian patients	4
Three de novo variants in KMT2A (MLL) identified by whole exome sequencing in patients with Wiedemann–Steiner syndrome	4
Variant curation and interpretation in hereditary cancer genes: An institutional experience in Latin America	4
Clinical and genetic characterization of autosomal recessive stickler syndrome caused by novel compound heterozygous mutations in the COL9A3 gene	4
A competing endogenous RNA network reveals key lncRNAs associated with sepsis	4
Genetic and clinical heterogeneity in Korean patients with Rubinstein–Taybi syndrome	4
First reported case of Doyne honeycomb retinal dystrophy (Malattia Leventinese/autosomal dominant drusen) in Scandinavia	4
Expanding the genetic spectrum of giant axonal neuropathy: Two novel variants in Iranian families	4
Concordance and characterization of massively parallel sequencing at 58 STRs in a Tibetan population	4
Knowledge and attitude of pregnant women in the Kingdom of Saudi Arabia toward Noninvasive prenatal testing: A single center study	4
Activity of daily living in mucopolysaccharidosis IVA patients: Evaluation of therapeutic efficacy	4
The first Japanese family of CDH3‐related hypotrichosis with juvenile macular dystrophy	4
Novel biallelic mutations in TTC29 cause asthenoteratospermia and male infertility	4
Kearns‐Sayre syndrome case. Novel 5,9 kb mtDNA deletion	4
A novel variant in BCL11B in an individual with neurodevelopmental delay: A case report	4
Family based and case–control designs reveal an association ofTFAP2Ain nonsyndromic cleft lip only among Vietnamese population	4
Systematic analysis of the causes of NIPS sex chromosome aneuploidy false‐positive results	4
Pathogenic gene variation spectrum and carrier screening for Wilson’s disease in Qingdao area	4
The value of primary transcripts to the clinical and non‐clinical genomics community: Survey results and roadmap for improvements	4
Case report of bilateral ovarian fibromas associated with de novo germline variants in PTCH1 and SMARCA4	4
Two nonsense GLI3 variants are associated with polydactyly and syndactyly in two families by affecting the sonic hedgehog signaling pathway	4
Autosomal recessive monilethrix: Novel variants of the DSG4 gene in three Chinese families	4
Accelerated epigenetic age and shortened telomere length based on DNA methylation in Nicolaides–Baraitser syndrome	4
Genetic testing results of children suspected to have Stickler syndrome type collagenopathy after ocular examination	4
Compound hemizygous variants in SERPINA7 gene cause thyroxine‐binding globulin deficiency	4