Molecular Genetics & Genomic Medicine

Article	Citations
Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature review	43
Current status of beta‐thalassemia and its treatment strategies	40
The study of METTL14, ALKBH5, and YTHDF2 in peripheral blood mononuclear cells from systemic lupus erythematosus	37
Genetic variability of human angiotensin‐converting enzyme 2 (hACE2) among various ethnic populations	32
Genetic counseling during COVID‐19 pandemic: Tuscany experience	30
Identification of key genes and pathways of diagnosis and prognosis in cervical cancer by bioinformatics analysis	26
Loss‐of‐function mutation in TSGA10 causes acephalic spermatozoa phenotype in human	23
Dissecting human trophoblast cell transcriptional heterogeneity in preeclampsia using single‐cell RNA sequencing	23
Single‐cell RNA sequencing analysis of human kidney reveals the presence of ACE2 receptor: A potential pathway of COVID‐19 infection	23
A novel homozygous nonsense ZP1 variant causes human female infertility associated with empty follicle syndrome (EFS)	23
The benefits and challenges of family genetic testing in rare genetic diseases—lessons from Fabry disease	22
Genetic analysis resolves differential diagnosis of a familial syndromic dilated cardiomyopathy: A new case of Alström syndrome	21
Autosomal dominant variants in FOXJ1 causing primary ciliary dyskinesia in two patients with obstructive hydrocephalus	21
Ex vivo model predicted in vivo efficacy of CFTR modulator therapy in a child with rare genotype	21
Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology	20
Clinicopathological and immunological characterization of RNA m6A methylation regulators in ovarian cancer	20
Functional and genetic analyses of ZYG11B provide evidences for its involvement in OAVS	20
Classical homocystinuria: A common inborn error of metabolism? An epidemiological study based on genetic databases	20
Investigating the ACE2 polymorphisms in COVID‐19 susceptibility: An in silico analysis	20
Retracted: LncRNA SNHG4 promotes osteosarcoma proliferation and migration by sponging miR‐377‐3p	19
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	19
Plasma‐based microRNA signatures in early diagnosis of breast cancer	19
Genetic contributions to the etiology of anorexia nervosa: New perspectives in molecular diagnosis and treatment	18
Reclassification of genetic variants in children with long QT syndrome	18
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

Roles of HOTAIR in lung cancer susceptibility and prognosis	17
Vanishing white matter: Eukaryotic initiation factor 2B model and the impact of missense mutations	17
Delineation of musculocontractural Ehlers–Danlos Syndrome caused by dermatan sulfate epimerase deficiency	17
Efficiency of noninvasive prenatal testing for the detection of fetal microdeletions and microduplications in autosomal chromosomes	17
Novel homozygous CLN3 missense variant in isolated retinal dystrophy: A case report and electron microscopic findings	17
Profound intellectual disability caused by homozygous TRAPPC9 pathogenic variant in a man from Malta	16
MYT1 role in the microtia‐craniofacial microsomia spectrum	16
Problems in variation interpretation guidelines and in their implementation in computational tools	16
Sleep patterns and problems among children with 22q11 deletion syndrome	16
Substrate reduction therapy with Miglustat in pediatric patients with GM1 type 2 gangliosidosis delays neurological involvement: A multicenter experience	16
Phenotypic expansion in Zhu‐Tokita‐Takenouchi‐Kim syndrome caused by de novo variants in the SON gene	16
Clinical characteristics and genotype‐phenotype correlations of 130 Chinese children in a high‐homogeneity single‐center cohort with 5α‐reductase 2 deficiency	16
Determining the best candidates for next‐generation sequencing‐based gene panel for evaluation of early‐onset epilepsy	15
Primary coenzyme Q10 deficiency due to COQ8A gene mutations	15
Perrault syndrome: Clinical report and retrospective analysis	15
Rare deleterious variants of NOTCH1, GATA4, SMAD6, and ROBO4 are enriched in BAV with early onset complications but not in BAV with heritable thoracic aortic disease	15
Pathogenic evaluation of synonymous COL4A5 variants in X‐linked Alport syndrome using a minigene assay	15
Clinical manifestation and genetic analysis in Chinese early onset X‐linked retinoschisis	14
An update of pathogenic variants in ASPM, WDR62, CDK5RAP2, STIL, CENPJ, and CEP135 underlying autosomal recessive primary microcephaly in 32 consanguineous families from Pa	14
Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases Network	14
Diagnostic value of whole‐exome sequencing in Chinese pediatric‐onset neuromuscular patients	14
Loss of CDKN2A at chromosome 9 has a poor clinical prognosis and promotes lung cancer progression	14
Macrophage inhibitory factor (MIF) gene polymorphisms are associated with disease susceptibility and with circulating MIF levels in active non‐segmental vitiligo in patients from western Mexico	14
Gene correction of the CLN3 c.175G>A variant in patient‐derived induced pluripotent stem cells prevents pathological changes in retinal organoids	13
SOX2 mediates cisplatin resistance in small‐cell lung cancer with downregulated expression of hsa‐miR‐340‐5p	13
The phenotype‐driven computational analysis yields clinical diagnosis for patients with atypical manifestations of known intellectual disability syndromes	13
Matching methods in precision oncology: An introduction and illustrative example	13
COQ8B nephropathy: Early detection and optimal treatment	13
Frequency and spectrum of actionable pathogenic secondary findings in Taiwanese exomes	13
A multidisciplinary approach and consensus statement to establish standards of care for Angelman syndrome	13
Clinical manifestation and phenotypic analysis of novel gene mutation in 28 Chinese children with hereditary spherocytosis	12
Genotypic and clinical analysis of 49 Chinese children with hepatic glycogen storage diseases	12
A TNXB splice donor site variant as a cause of hypermobility type Ehlers–Danlos syndrome in patients with congenital adrenal hyperplasia	12
Panel‐based genetic testing for inherited retinal disease screening 176 genes	12
Patient with CATSPER3 mutations‐related failure of sperm acrosome reaction with successful pregnancy outcome from intracytoplasmic sperm injection (ICSI)	12
Nonsense suppression induced readthrough of a novel PAX6 mutation in patient‐derived cells of congenital aniridia	12
Phenotype–genotype correlations in a pseudodominant Stargardt disease pedigree due to a novel ABCA4 deletion–insertion variant causing a splicing defect	12
RETRACTED: Population genetic analysis of Shaanxi male Han Chinese population reveals genetic differentiation and homogenization of East Asians	12
Diagnostic cytogenetic testing following positive noninvasive prenatal screening results of sex chromosome abnormalities: Report of five cases and systematic review of evidence	12
Novel mutations in the PLCZ1 gene associated with human low or failed fertilization	12
Clinical aspects of Hyaline Fibromatosis Syndrome and identification of a novel mutation	12
A de novo heterozygous variant in the SON gene is associated with Zhu‐Tokita‐Takenouchi‐Kim syndrome	12
Missense variants in CTNNB1 can be associated with vitreoretinopathy—Seven new cases of CTNNB1‐associated neurodevelopmental disorder including a previously unreported retinal phenotype	12
Serotonin transporter gene (SLC6A4) variation and sensory processing sensitivity—Comparison with other anxiety‐related temperamental dimensions	12
Utilization of health information technology among cancer genetic counselors	12
Non‐random distribution of deleterious mutations in the DNA and protein‐binding domains of IRF6 are associated with Van Der Woude syndrome	12
Two novel mutations of PAX3 and SOX10 were characterized as genetic causes of Waardenburg Syndrome	11
Genomic study of dilated cardiomyopathy in a group of Mexican patients using site‐directed next generation sequencing	11
Defective INPP5E distribution in NPHP1‐related Senior–Loken syndrome	11
Inherited and de novo biallelic pathogenic variants in COL11A1 result in type 2 Stickler syndrome with severe hearing loss	11

SUMOylated Senataxin functions in genome stability, RNA degradation, and stress granule disassembly, and is linked with inherited ataxia and motor neuron disease	11
Detection of a mosaic CDKL5 deletion and inversion by optical genome mapping ends an exhaustive diagnostic odyssey	11
Clinical and genetic analysis of lipoprotein glomerulopathy patients caused by APOE mutations	11
The KLHL40 c.1516A>C is a Chinese‐specific founder mutation causing nemaline myopathy 8: Report of six patients with pre‐ and postnatal phenotypes	11
Haploinsufficiency as a disease mechanism in GNB1‐associated neurodevelopmental disorder	11
A novel mutation in PLS3 causes extremely rare X‐linked osteogenesis imperfecta	11
Indeterminate thyroid nodules in the era of molecular genomics	11
RETRACTED: Forensic features and genetic background exploration of a new 47‐autosomal InDel panel in five representative Han populations residing in Northern China	11
Two novel KCNA1 variants identified in two unrelated Chinese families affected by episodic ataxia type 1 and neurodevelopmental disorders	11
The role of sodium channels in sudden unexpected death in pediatrics	11
Two novel mutations in DNAJC12 identified by whole‐exome sequencing in a patient with mild hyperphenylalaninemia	10
Prenatal diagnosis of Prader‐Willi syndrome due to uniparental disomy with NIPS: Case report and literature review	10
FF‐QuantSC: accurate quantification of fetal fraction by a neural network model	10
ALG12‐CDG: An unusual patient without intellectual disability and facial dysmorphism, and with a novel variant	10
Acromicric dysplasia with stiff skin syndrome‐like severe cutaneous presentation in an 8‐year‐old boy with a missense FBN1 mutation: Case report and literature review	10
A novel homozygous variant in MICOS13/QIL1 causes hepato‐encephalopathy with mitochondrial DNA depletion syndrome	10
Gene mutations associated with early onset familial Alzheimer’s disease in China: An overview and current status	10
Novel mutation in USP26 associated with azoospermia in a Sertoli cell‐only syndrome patient	10
SHORT syndrome in two Chinese girls: A case report and review of the literature	10
A novel CACNA1A variant in a child with early stroke and intractable epilepsy	10
Clinical and genetic data of 22 new patients with SMAD3 pathogenic variants and review of the literature	10
Identification of histone malonylation in the human fetal brain and implications for diabetes‐induced neural tube defects	10
Evaluation of optical genome mapping for detecting chromosomal translocation in clinical cytogenetics	10
Patient perspectives on variant reclassification after cancer susceptibility testing	10
Compound heterozygous loss of function variants in MYL9 in a child with megacystis–microcolon–intestinal hypoperistalsis syndrome	10
Disrupted minor intron splicing is prevalent in Mendelian disorders	10
Clinical and molecular characterization of 12 prenatal cases of Cri‐du‐chat syndrome	9
Novel heterozygous truncating titin variants affecting the A‐band are associated with cardiomyopathy and myopathy/muscular dystrophy	9
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	9
Increased diagnosis of enlarged vestibular aqueduct by multiplex PCR enrichment and next‐generation sequencing of the SLC26A4 gene	9
Survival of a male patient harboring CASK Arg27Ter mutation to adolescence	9
Next‐generation sequencing identifies rare pathogenic and novel candidate variants in a cohort of Chinese patients with syndromic or nonsyndromic hearing loss	9
FARP‐1 deletion is associated with lack of response to autism treatment by early start denver model in a multiplex family	9
RETRACTED: Forensic characteristics and phylogenetic analyses of one branch of Tai‐Kadai language‐speaking Hainan Hlai (Ha Hlai) via 23 autosomal STRs included in the Huaxia™ Platinum Syste	9
Two novel mutations in the MCM8 gene shared by two Chinese siblings with primary ovarian insufficiency and short stature	9
Whole‐exome sequencing identified first homozygous frameshift variant in the COLEC10 gene in an Iranian patient causing 3MC syndrome type 3	9
A novel dominant mutation in CRYAB gene leading to a severe phenotype with childhood onset	9
A 9‐month‐old Chinese patient with Gabriele‐de Vries syndrome due to novel germline mutation in the YY1 gene	9
Identification and functional characterization of a novel surfactant protein A2 mutation (p.N207Y) in a Chinese family with idiopathic pulmonary fibrosis	9
Health orientation and individual tendencies of a sample of Italian genetic testing consumers	9
Different prevalence of T2DM risk alleles in Roma population in comparison with the majority Czech population	9
Determination of mutations in iron regulating genes of beta thalassemia major patients of Khyber Pakhtunkhwa, Pakistan	9
Mitochondrial DNA deletion and duplication in Kearns–Sayre Syndrome (KSS) with initial presentation as Pearson Marrow‐Pancreas Syndrome (PMPS): Two case reports in Barranquilla, Colombia	9
Microbiota profile and efficacy of probiotic supplementation on laxation in adults affected by Prader‐Willi Syndrome: A randomized, double‐blind, crossover trial	9
Genetic testing and employer‐sponsored wellness programs: An overview of current vendors, products, and practices	9
Non‐invasive prenatal testing for the prenatal screening of sex chromosome aneuploidies: A systematic review and meta‐analysis of diagnostic test accuracy studies	9
MYH2 myopathy, a new case expands the clinical and pathological spectrum of the recessive form	9
Dental malformations associated with biallelic MMP20 mutations	8
Novel SARS2 variants identified in a Chinese girl with HUPRA syndrome	8
Phenotypic spectrum and antialbuminuric response to angiotensin converting enzyme inhibitor and angiotensin receptor blocker therapy in pediatric Dent disease	8
Spectrum of gene mutations identified by targeted next‐generation sequencing in Chinese leukemia patients	8
Epidemiology, evolutionary origin, and malaria‐induced positive selection effects of G6PD‐deficient alleles in Chinese populations	8
The genetic basis for the inverse relationship between rheumatoid arthritis and schizophrenia	8
Lacrimo‐auriculo‐dento‐digital syndrome: A novel mutation in a Korean family and review of literature	8
Ancient dental pulp: Masterpiece tissue for paleomicrobiology	8
Novel loss of function mutation in NOTCH1 in a family with bicuspid aortic valve, ventricular septal defect, thoracic aortic aneurysm, and aortic valve stenosis	8
Overexpression of SNTG2, TRAF3IP2, and ITGA6 transcripts is associated with osteoporotic vertebral fracture in elderly women from community	8
Genetic profile of non‐small cell lung cancer (NSCLC): A hospital‐based survey in Jinhua	8
A novel prognostic model based on multi‐omics features predicts the prognosis of colon cancer patients	8
Recurrent de novo WFS1 pathogenic variants in Chinese sporadic patients with nonsyndromic sensorineural hearing loss	8
Missense mutations in EDA and EDAR genes cause dominant syndromic tooth agenesis	8
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	8
Alteration of PPAR‐GAMMA (PPARG; PPARγ) and PTEN gene expression in acute myeloid leukemia patients and the promising anticancer effects of PPARγ stimulation	8
Whole exome sequencing identifies multiple novel candidate genes in familial gastroschisis	8
Genetic and molecular biology of bladder cancer among Iranian patients	8
(Epi)genetic profiling of extraembryonic and postnatal tissues from female monozygotic twins discordant for Beckwith–Wiedemann syndrome	8
A novel missense variant in MYO3A is associated with autosomal dominant high‐frequency hearing loss in a German family	8
Structural analysis of pathogenic missense mutations in GABRA2 and identification of a novel de novo variant in the desensitization gate	8
NPC1 silent variant induces skipping of exon 11 (p.V562V) and unfolded protein response was found in a specific Niemann‐Pick type C patient	8
Identification of a novel gross deletion of TCOF1 in a Chinese prenatal case with Treacher Collins syndrome	8
Genetic and clinical characteristics of 24 mainland Chinese patients with CTNNB1 loss‐of‐function variants	8
Experiences of children and adolescents living with achondroplasia and their caregivers	8
Identification of common differentially expressed genes in Turner (45,X) and Klinefelter (47,XXY) syndromes using bioinformatics analysis	8
Detection of germline mosaicism in fathers of children with intellectual disability syndromes caused by de novo variants	8
A novel EDAR missense mutation identified by whole‐exome sequencing with non‐syndromic tooth agenesis in a Chinese family	8
Spinal muscular atrophy caused by a novel Alu‐mediated deletion of exons 2a‐5 in SMN1 undetectable with routine genetic testing	8
A novel, likely pathogenic variant in UBTF‐related neurodegeneration with brain atrophy is associated with a severe divergent neurodevelopmental phenotype	7
Genetic variants related to successful migraine prophylaxis with verapamil	7
Expanding the PURA syndrome phenotype: A child with the recurrent PURA p.(Phe233del) pathogenic variant showing similarities with cutis laxa	7
DYRK1A pathogenic variants in two patients with syndromic intellectual disability and a review of the literature	7

Electrophysiological features: The next precise step for SCN2A developmental epileptic encephalopathy	7
Yield of array‐CGH analysis in Tunisian children with autism spectrum disorder	7
A novel GABRB3 variant in Dravet syndrome: Case report and literature review	7
Adult‐onset Krabbe disease due to a homozygous GALC mutation without abnormal signals on an MRI in a consanguineous family: A case report	7
Exploring the characteristics and most bothersome symptoms in MECP2 duplication syndrome to pave the path toward developing parent‐oriented outcome measures	7
A novel NFIA gene nonsense mutation in a Chinese patient with macrocephaly, corpus callosum hypoplasia, developmental delay, and dysmorphic features	7
The expression and regulation of HOX genes and membrane proteins among different cytogenetic groups of acute myeloid leukemia	7
Genetic testing of UGT1A1 in the diagnosis of Gilbert syndrome: The discovery of seven novel variants in the Chinese population	7
Cytogenetic and FISH analysis of 93 multiple myeloma Moroccan patients	7
CHL1 deletion is associated with cognitive and language disabilities – Case report and review of literature	7
Oncogenic mutations within the β3‐αC loop of EGFR/ERBB2/BRAF/MAP2K1 predict response to therapies	7
A novel compound heterozygous missense mutation in ASNS broadens the spectrum of asparagine synthetase deficiency	7
Dysregulated expression of androgen metabolism genes and genetic analysis in hypospadias	7
Complicated ventricular arrhythmia and hematologic myeloproliferative disorder in RIT1‐associated Noonan syndrome: Expanding the phenotype and review of the literature	7
Detection of novel Fabry disease‐associated pathogenic variants in Japanese patients by newborn and high‐risk screening	7
A TOMM40/APOE allele encoding APOE‐E3 predicts high likelihood of late‐onset Alzheimer’s disease in autopsy cases	7
Landscape of IDH1/2 mutations in Chinese patients with solid tumors: A pan‐cancer analysis	7
Shortened consent forms for genome‐wide sequencing: Parent and provider perspectives	7
Genetic testing users in Italy and Germany: Health orientation, health‐related habits, and psychological profile	7
Heritability and genome‐wide association study of blood pressure in Chinese adult twins	7
Aberrant X chromosomal rearrangement through multi‐step template switching during sister chromatid formation in a patient with severe hemophilia A	7
Patients’ and caregivers’ maximum acceptable risk of death for non‐curative gene therapy to treat Duchenne muscular dystrophy	7
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	7
Variants of ATP1A3 in residue 756 cause a separate phenotype of relapsing encephalopathy with cerebellar ataxia (RECA)—Report of two cases and literature review	7
Aberrant DNA methylation of PTPRG as one possible mechanism of its under‐expression in CML patients in the State of Qatar	7
Whole‐exome sequencing identified a novel homozygous ASPH frameshift variant causing Traboulsi syndrome in a Chinese family	7
A glimpse of the genetics of young‐onset Parkinson’s disease in Central Asia	7
Rare and novel variants of PRKN and PINK1 genes in Vietnamese patients with early‐onset Parkinson’s disease	7
Further delineation of autosomal recessive intellectual disability syndrome caused by homozygous variant of the NSUN2 gene in a chinese pedigree	7
Phenotypic heterogeneity in patients with NEFL‐related Charcot–Marie–Tooth disease	7
Molecular and neurological features of MELAS syndrome in paediatric patients: A case series and review of the literature	7
Rare variants in the GABAA receptor subunit ε identified in patients with a wide spectrum of epileptic phenotypes	7
Identification and characterization of six β‐crystallin gene mutations associated with congenital cataract in Chinese families	7
RETRACTED: Haplotype diversity and phylogenetic characteristics for Guanzhong Han population from Northwest China via 38 Y‐STRs using Yfiler™ Platinum Amplification System	6
Clinical value for the detection of fetal chromosomal deletions/duplications by noninvasive prenatal testing in clinical practice	6
Screening of germline mutations in young Rwandan patients with breast cancers	6
Early behavioral and developmental interventions in ADNP‐syndrome: A case report of SWI/SNF‐related neurodevelopmental syndrome	6
Molecular analysis of low‐level mosaicism of the IKBKG mutation using the X Chromosome Inactivation pattern in Incontinentia Pigmenti	6
Variable clinical expression of Stickler Syndrome: A case report of a novel COL11A1 mutation	6
The use of telemedicine in cardiogenetics clinical practice during the COVID‐19 pandemic	6
Neuronal ceroid lipofuscinosis in the Russian population: Two novel mutations and the prevalence of heterozygous carriers	6
Informed consent practices for exome sequencing: An interview study with clinical geneticists in the Netherlands	6
Hyaline fibromatosis syndrome with a novel 4.41‐kb deletion in ANTXR2 gene: A case report and literature review	6
TP53 p.Arg337His geographic distribution correlates with adrenocortical tumor occurrence	6
Clinical and genetic characterization of ten Egyptian patients with Wolf–Hirschhorn syndrome and review of literature	6
Analysis of TNFSF13B polymorphisms and BAFF expression in rheumatoid arthritis and primary Sjögren's syndrome patients	6
Transcriptome sequencing identifies a noncoding, deep intronic variant in CLCN7 causing autosomal recessive osteopetrosis	6
Development of Chinese genetic reference panel for Fragile X Syndrome and its application to the screen of 10,000 Chinese pregnant women and women planning pregnancy	6
TH17/IL23 cytokine gene polymorphisms in bullous pemphigoid	6
Whole exome sequencing reveals a biallelic frameshift mutation in GRXCR2 in hearing impairment in Cameroon	6
Prevalence and clinical/molecular characteristics of PTEN mutations in Turkish children with autism spectrum disorders and macrocephaly	6
A novel missense heterozygous mutation in MAP3K1 gene causes 46, XY disorder of sex development: case report and literature review	6
Total number of reads affects the accuracy of fetal fraction estimates in NIPT	6
Description of combined ARHSP/JALS phenotype in some patients with SPG11 mutations	6
Detection of pericentric inversion with breakpoint in DMD by whole genome sequencing	6
Variable degree of mosaicism for tetrasomy 18p in phenotypically discordant monozygotic twins—Diagnostic implications	6
First reported CABP2‐related non‐syndromic hearing loss in Northern Europe	6
Early truncation of the N‐terminal variable region of EYA4 gene causes dominant hearing loss without cardiac phenotype	6
A novel fusion between CDC42BPB and ALK in a patient with quadruple wild‐type gastrointestinal stromal tumor	6
Analysis of CNVs of CFTR gene in Chinese Han population with CBAVD	6
A Korean child diagnosed with malonic aciduria harboring a novel start codon mutation following presentation with dilated cardiomyopathy	6
Association of MACROD2 gene variants with obesity and physical activity in a Korean population	6
A novel deep intronic variant in ATP7B in five unrelated families affected by Wilson disease	6
POLE and POLD1 germline exonuclease domain pathogenic variants, a rare event in colorectal cancer from the Middle East	6
Clinical heterogeneity and intrafamilial variability of Joubert syndrome in two siblings with CPLANE1 variants	6
CRISPR/Cas9 in zebrafish: An attractive model for FBN1 genetic defects in humans	6
Expanding the phenotype of CACNA1C mutation disorders	6
More severe phenotype of early‐onset osteoporosis associated with recessive form of LRP5 and combination with DKK1 or WNT3A	6
Systematic summarization of the expression profiles and prognostic roles of the dishevelled gene family in hepatocellular carcinoma	6
Missense NR2F1 variant in monozygotic twins affected with the Bosch–Boonstra–Schaaf optic atrophy syndrome	6
Association of long noncoding RNA MALAT1 polymorphisms with gastric cancer risk in Korean individuals	6
A homozygote variant in the tRNA splicing endonuclease subunit 54 causes pontocerebellar hypoplasia in a consanguineous Iranian family	6
Fine‐mapping of ZDHHC2 identifies risk variants for schizophrenia in the Han Chinese population	6
Identification of two novel homozygous nonsense mutations in TRAPPC9 in two unrelated consanguineous families with intellectual Disability from Iran	6
In silico modeling of the interaction between TEX19 and LIRE1, and analysis of TEX19 gene missense SNPs	6
Clinical features and genetic characteristics of homozygous spinocerebellar ataxia type 3	6
Association of the STAT4, CDKN1A, and IRF5 variants with risk of lupus nephritis and renal biopsy classification in patients in Vietnam	6
Severe brain calcification and migraine headache caused by SLC20A2 and PDGFRB heterozygous mutations in a five‐year‐old Chinese girl	6
Severe reaction to radiotherapy provoked by hypomorphic germline mutations in ATM (ataxia–telangiectasia mutated gene)	6
The association of lncRNA SNPs and SNPs‐environment interactions based on GWAS with HBV‐related HCC risk and progression	6
RETRACTED: Evaluation of a six‐dye multiplex composed of 27 markers for forensic analysis and databasing	6
A novel UBE3A sequence variant identified in eight related individuals with neurodevelopmental delay, results in a phenotype which does not match the clinical criteria of Angelman syndrome	6
Analysis of rare variants of autosomal‐dominant genes in a Chinese population with sporadic Parkinson’s disease	6
Novel compound heterozygous mutations of CLDN16 in a patient with familial hypomagnesemia with hypercalciuria and nephrocalcinosis	6
Family caregivers of rare disease: A survey on health‐related quality of life in family caregivers for Gaucher disease patients in China	6
Next‐generation sequence‐based preimplantation genetic testing for monogenic disease resulting from maternal mosaicism	6
Prevalence of Y chromosome microdeletion in azoospermia factor subregions among infertile men from West Bengal, India	6
Rapid screening of MMACHC gene mutations by high‐resolution melting curve analysis	6
Identification of novel ACAN mutations in two Chinese families and genotype–phenotype correlation in patients with 74 pathogenic ACAN variations	6
Confirming the contribution and genetic spectrum of de novo mutation in infantile spasms: Evidence from a Chinese cohort	6
The impact of CYP19A1 variants and haplotypes on breast cancer risk, clinicopathological features and prognosis	5
Clinical performance of DNA‐based prenatal screening using single‐nucleotide polymorphisms approach in Thai women with singleton pregnancy	5
Estimation on risk of spontaneous abortions by genomic disorders from a meta‐analysis of microarray results on large case series of pregnancy losses	5
Vitamin D status and CYP27B1‐1260 promoter polymorphism in Tunisian patients with systemic lupus erythematosus	5
Two novel presentations of KCNMA1‐related pathology––Expanding the clinical phenotype of a rare channelopathy	5