Molecular Genetics & Genomic Medicine

Article	Citations
Cover	91
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Exome sequencing and RNA analysis identify two novel CPLANE1 variants causing Joubert syndrome	30
Clinical findings from the landmark MEF2C‐related disorders natural history study	30
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	16
Sequential application of copy number variation sequencing and quantitative fluorescence polymerase chain reaction in genetic analysis of miscarriage and stillbirth	16
Congenital adrenal hyperplasia due to two rare CYP21A2 variant alleles, including a novel attenuated CYP21A1P/CYP21A2 chimera	15
Issue Information	14
Diagnosis and treatment of MN1 C‐terminal truncation syndrome	14
Ten‐year follow‐up of Nicolaides–Baraitser syndrome with a de novo mutation and analysis of 58 gene loci of SMARCA2‐associated NCBRS	14
Two novel presentations of KCNMA1‐related pathology––Expanding the clinical phenotype of a rare channelopathy	14
Autism spectrum disorder profiles in RASopathies: A systematic review	14
COPA syndrome caused by a novel p.Arg227Cys COPA gene variant	14
Three de novo variants in KMT2A (MLL) identified by whole exome sequencing in patients with Wiedemann–Steiner syndrome	13
Development of a Tagmentation‐Based Next‐Generation Sequencing Clinical Assay as an Alternative to Capillary Electrophoresis‐Based Sequencing	13
Activity of daily living in mucopolysaccharidosis IVA patients: Evaluation of therapeutic efficacy	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
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
Genetic of preimplantation diagnosis of dysmorphic facial features and intellectual developmental disorder (CHDFIDD) without congenital heart defects	11
Mutation spectrum of congenital heart disease in a consanguineous Turkish population	11
Exome sequencing‐aided precise diagnosis of four families with type I Stickler syndrome	11
First preimplantation genetic testing case of Meckel syndrome with a novel homozygous TXNDC15 variant in a non‐consanguineous Chinese family	11
Loss‐of‐Function CARS1 Variants in a Patient With Microcephaly, Developmental Delay, and a Brittle Hair Phenotype	11
Recurrent human 16p11.2 microdeletions in type I Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome patients in Chinese Han population	11
Hyaline fibromatosis syndrome with a novel 4.41‐kb deletion in ANTXR2 gene: A case report and literature review	10

Case report of a child with long QT syndrome type 14 caused by CALM1 gene mutation and literature review	10
A homozygous stop codon in HORMAD2 in a patient with recurrent digynic triploid miscarriage	10
The clinical, myopathological, and genetic analysis of 155 Chinese mitochondrial ophthalmoplegia patients with mitochondrial DNA single large deletions	10
Genetic mutations in ribosomal biogenesis gene TCOF1 identified in human neural tube defects	10
Newborn Screening for Isovaleric Acidemia: Treatment With Pivalate‐Generating Antibiotics Contributed to False C5‐Carnitine Positivity in a Chinese Population	10
Mutated neuron navigator 3 as a candidate gene for a rare neurodevelopmental disorder	10
A monoallelic variant in EYA1 is associated with Branchio‐Otic syndrome in a Malian family	10
A Novel Biallelic Variant in IHH Causing Acrocapitofemoral Dysplasia in a Pakistani Family	10
Knowledge, Attitudes, and Practices of the General Population Regarding Peripheral Blood Chromosomal Testing in the Premarital or Preconception Context	10
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Congenital Hypotonia: Cracking a SAGA of consanguineous kindred harboring four genetic variants	9
Detection of pericentric inversion with breakpoint in DMD by whole genome sequencing	9
Characterization of a novel non‐canonical splice site variant (c.886‐5T>A) in NBAS and description of the associated phenotype	9
Pyridoxine‐responsive KCNQ2 epileptic encephalopathy: Additional cases and literature review	9
Contribution of uniparental disomy in a clinical trio exome cohort of 2675 patients	9
Promoter hypermethylation of RARB and GSTP1 genes in plasma cell‐free DNA as breast cancer biomarkers in Peruvian women	9
Fetal akinesia deformation sequence and massive perivillous fibrin deposition resulting in fetal death in six fetuses from one consanguineous couple, including literature review	9
Adults with lysosomal storage diseases in the undiagnosed diseases network	9
Compound heterozygous null mutations of NOBOX in sisters with delayed puberty and primary amenorrhea	9
Correction to “In silico validation revealed the role of SCN5A mutations and their genotype–phenotype correlations in Brugada syndrome”	9
A novel heterozygous variant of FOXJ1 in a Chinese female with primary ciliary dyskinesia and hydrocephalus: A case report and literature review	9
Further delineation of Wiedemann‐Rautenstrauch syndrome linked with POLR3A	9
Identification of a novel heterozygous PTH1R variant in a Chinese family with incomplete penetrance	9
Systematic review on gene–sun exposure interactions in skin cancer	9
In silico modeling of the interaction between TEX19 and LIRE1, and analysis of TEX19 gene missense SNPs	9
Frameshift Mutation in PAX2 Related to Focal Segmental Glomerular Sclerosis: A Case Report and Literature Review	9
The significance of the fusion partner gene genomic neighborhood analysis in translocation‐defined tumors	8
Bedtime extended release cornstarch improves biochemical profile and sleep quality for patients with glycogen storage disease type Ia	8
A single heterozygous nonsense mutation in the TTC21B gene causes adult‐onset nephronophthisis 12: A case report and review of literature	8
Issue Information	8
Pathogenicity of the LDLR c.97C>T (p.Gln33Ter) Mutation in Familial Hypercholesterolemia	8
Profiling of circulating chromosome 21‐encoded microRNAs, miR‐155, and let‐7c, in down syndrome	8
Prenatal whole‐exome sequencing in fetuses with increased nuchal translucency	8
Social media use by patients with hypermobile Ehlers–Danlos syndrome	8
Genetic diagnosis of Alport syndrome in 16 Chinese families	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
Deep Sequencing and Phenotyping in an Australian Tuberous Sclerosis Complex “No Mutations Identified” Cohort	8
Estimate of genetic variants using CNV‐Seq for fetuses with oligohydramnios or polyhydramnios	8
Population‐based screening of Uruguayan Ashkenazi Jews for recurrent BRCA1 and BRCA2 pathogenic sequence variants	8
Comprehensive characterization and building of National Registry of von Hippel–Lindau disease in Brazil	8
Management of methylmalonic acidemia (MMA) with N‐carbamylglutamate: A case report from Italy	8
Genetic analysis and outcomes of Omani children with steroid‐resistant nephrotic syndrome	8
Comprehensive variant calling from whole‐genome sequencing identifies a complex inversion that disrupts ZFPM2 in familial congenital diaphragmatic hernia	8
Issue Information	7
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Retraction: Population genetics of 24 Y‐STR loci in Chinese Han population from Jilin Province, Northeast China	7
A somatic splice‐site variant in PIK3R1 in a patient with vascular overgrowth and low immunoglobulin levels: A case report	7
Identification of rare missense variants in the BSN gene co‐segregating with chronic otitis media in a consanguineous Pakistani family	7
Clinical and ocular abnormalities in DEGCAGS syndrome—Developmental delay with gastrointestinal, cardiovascular, genitourinary, and skeletal abnormalities	7

Analysis of the clinical and genetic characteristics of a Chinese family with osteogenesis imperfecta type I	7
Expanding the clinical spectrum of autosomal‐recessive renal tubular dysgenesis: Two siblings with neonatal survival and review of the literature	7
Association of MMP1 and MMP3 haplotypes with myocardial infarction and echocardiographic parameters of the left ventricle	7
Retraction: Population genetic analysis of Shaanxi male Han Chinese population reveals genetic differentiation and homogenization of East Asians	7
More severe phenotype of early‐onset osteoporosis associated with recessive form ofLRP5and combination withDKK1orWNT3A	7
Studying carrier frequency of spinal muscular atrophy in the State of Qatar and comparison to other ethnic groups: Pilot study	7
Prenatal phenotype of Wolf–Hirschhorn syndrome: A case series and literature review	7
Distribution of vitamin D‐binding protein/group‐specific component gene subtypes in Kuwaiti population	7
HINT1 founder mutation causing axonal neuropathy with neuromyotonia in South America: A case report	7
A novel EDAR missense mutation identified by whole‐exome sequencing with non‐syndromic tooth agenesis in a Chinese family	7
Mutations obstructing ATP's emplacement in KIF2A nucleotide‐binding pocket causes parenchymal malformations, motor developmental delay, with intellectual disability	7
Retraction: Forensic features and genetic background exploration of a new 47‐autosomal InDel panel in five representative Han populations residing in Northern China	7
Clinicopathological and genetic study of a rare occurrence: Malignant transformation of fibrous dysplasia of the jaws	7
STAT3 polymorphisms in North Africa and its implication in breast cancer	7
Detection of mobile elements insertions for routine clinical diagnostics in targeted sequencing data	7
Screening of Inherited Retinal Disease Patients in a Low‐Resource Setting Using an Augmented Next‐Generation Sequencing Panel	7
Clinical report and genetic analysis of a Chinese patient with developmental and epileptic encephalopathy associated with novel biallelic variants in the ST3GAL3 gene	7
A novel unbalanced translocation between chromosomes 5p and 18q leading to dysmorphology and global developmental delay	6
Prenatal diagnosis of combined methylmalonic acidemia and homocystinuria cobalamin C type using clinical exome sequencing and targeted gene analysis	6
A novel UBAP1 truncated variant in a Chinese family with hereditary spastic paraplegia	6
Targeted gene sequencing of FYCO1 identified a novel mutation in a Pakistani family for autosomal recessive congenital cataract	6
Retraction: Genetic polymorphism and phylogenetic analyses of 21 non‐CODIS STR loci in a Chinese Han population from Shanghai	6
Early cardiomyopathy without severe metabolic dysregulation in a patient with cblB‐type methylmalonic acidemia	6
Evaluation of optical genome mapping for detecting chromosomal translocation in clinical cytogenetics	6
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Two novel AMHR2 gene variants in monozygotic twins with persistent Müllerian duct syndrome: A case report and functional study	6
11q13.3q13.4 deletion plus 9q21.13q21.33 duplication in an affected girl arising from a familial four‐way balanced chromosomal translocation	6
First‐time application of droplet digital PCR for methylation testing of the 11p15.5 imprinting regions	6
Association of NQO1 levels and its genetic polymorphism with susceptibility to methamphetamine dependence	6
The effect of a single SMARCA4 exon deletion on RNA splicing: Implications for variant classification	6
Report of rare and novel mutations in candidate genes in a cohort of hearing‐impaired patients	6
Expanding the mutational spectrum of ZTTK syndrome: A de novo variant with global developmental delay and malnutrition in a Chinese patient	6
A study of elective genome sequencing and pharmacogenetic testing in an unselected population	6
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Epimutation of MMACHC compound to a genetic mutation in cblC cases	6
New Insight into the human genetic diversity in North African populations by genotyping of SNPs in DRD3, CSMD1 and NRG1 genes	6
Retraction: Genetic diversity and phylogenetic structure of four Tibeto‐Burman‐speaking populations in Tibetan‐Yi corridor revealed by insertion/deletion polymorphisms	6
Identification of variants in ACAN and PAPSS2 leading to spondyloepi(meta)physeal dysplasias in four Chinese families	6
Low‐level germline mosaicism of a novel SMARCA2 missense variant: Expanding the phenotypic spectrum and mode of genetic transmission	6
Novel mutations of PMFBP1 in a man with acephalic spermatozoa defects	6
Exome sequencing findings in children with annular pancreas	6
The role of vitamin D receptor and IL‐6 in COVID‐19	6
Novel insight into FCSK‐congenital disorder of glycosylation through a CRISPR‐generated cell model	6
Novel IRF6 variant in orofacial cleft patients from Durban, South Africa	6
Massively parallel sequencing uncovered disease‐associated variant spectra of glucose‐6‐phosphate dehydrogenase deficiency, phenylketonuria and galactosemia in Vietnamese pregnant women	6
De novo DYNC1H1 mutation causes infantile developmental and epileptic encephalopathy with brain malformations	6
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Identification of Pathogenic Copy Number Variants in Mexican Patients With Inherited Retinal Dystrophies Applying an Exome Sequencing Data‐Based Read‐Depth Approach	5
Hope, but never expect? Comparing parents' pre‐ and post‐disclosure attitudes toward return of results from diagnostic exome sequencing for their child	5
Clinical and molecular characterization of five Chinese patients with autosomal recessive osteopetrosis	5
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A novel heterozygous ATP1A2 pathogenic variant in a Chinese child with MELAS‐like alternating hemiplegia	5
Diagnosis of Arboleda‐Tham syndrome by whole‐exome sequencing in an Asian girl with severe developmental delay	5
Mutation spectrum of non‐syndromic hearing loss in the UAE, a retrospective cohort study and literature review	5
Two Nonsense GLI3 Variants Are Identified in Two Chinese Families With Polydactyly	5
Issue Information	5
Clinical study and genetic analysis of Cornelia de Lange syndrome caused by a novel MAU2 gene variant in a Chinese boy	5
A novel splicing mutation in 5'UTR of GJB1 causes X‐linked Charcot—Marie–tooth disease	5
Detection of TSC1/TSC2 mosaic variants in patients with cardiac rhabdomyoma and tuberous sclerosis complex by hybrid‐capture next‐generation sequencing	5
Compound heterozygous KCNV2 variants contribute to cone dystrophy with supernormal rod responses in a Chinese family	5
Long‐read Oxford nanopore sequencing reveals a de novo case of complex chromosomal rearrangement involving chromosomes 2, 7, and 13	5
A novel missense variant in OTUD5 causes X‐linked multiple congenital anomalies‐neurodevelopmental syndrome	5
Chinese familial central precocious puberty with hyperuricemia due to recurrent DLK1 mutation: Case report and review of the literature	5
A new patient with congenital myasthenic syndrome type 20 due to compound heterozygous missense SLC5A7 variants suggests trends in genotype–phenotype correlation	5
A new GNPAT variant of foetal rhizomelic chondrodysplasia punctata	5
Genetic analysis and prenatal diagnosis in a Chinese with growth retardation, abnormal liver function, and microcephaly	5
Issue Information	5
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APOL1 polymorphisms are not influencing acute coronary syndrome risk in Czech males	5
Autosomal dominant variants inFOXJ1causing primary ciliary dyskinesia in two patients with obstructive hydrocephalus	5
Quality of life in children with Down syndrome and its association with parent and child demographic characteristics: Parent‐reported measures	5
A novel splice‐site mutation in CHMP2B associated with frontotemporal dementia: The first report from China and literature review	5
Identifying patients with EVEN‐plus syndrome using exome sequencing and clinical feature analysis: A case report	5
Heritability and genome‐wide association study of blood pressure in Chinese adult twins	5
Genetic and functional analyses detect an EXT1 splicing pathogenic variant in a Chinese hereditary multiple exostosis (HME) family	5
CD40LG mutations in Vietnamese patients with X‐linked hyper‐IgM syndrome; catastrophic anti‐phospholipid syndrome as a new complication	5
ABCG2 polymorphisms and susceptibility to ARV‐associated hepatotoxicity	5
Prenatal diagnosis and preimplantation genetics testing of 3M syndrome in a Chinese family with novel biallelic variants of CUL7	5
Barriers and Facilitators to Participation in Clinical Trials Related to Familial Frontotemporal Dementia: A Qualitative Study	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 and functional analysis of a novel de novo missense mutation located in the initiation codon of LAMP2 associated with early onset female Danon disease	5
Identification of a novel TSC1 gene variant in a patient with atypical vitiligo‐like skin lesions: Unveiling the hidden tuberous sclerosis complex	5
Issue Information	5
Mutation spectrum of hearing loss patients in Northwest China: Identification of 20 novel variants	5
Germline mutations in pediatric cancer cohort with mixed‐ancestry Mexicans	5
Rapid high‐resolution melting method to identify human leukocyte antigen‐G (HLA‐G) 3′ untranslated region polymorphism +3142C/G (rs1063320)	5
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Identification of a novel COL7A1 variant associated with dystrophic epidermolysis bullosa pruriginosa responding effectively to dupilumab	5
Noonan syndrome: rhGH treatment and PTPN11 mutation	5
Issue Information	5
CircFOXM1 acts as a ceRNA to upregulate SMAD2 and promote the progression of nasopharyngeal carcinoma	5
A new genetic diagnosis strategy for paroxysmal kinesigenic dyskinesia: Targeted high‐throughput detection of PRRT2 gene c.649 locus	5
Pathogenic gene variation spectrum and carrier screening for Wilson’s disease in Qingdao area	5
Case report: Compound heterozygous nonsense PCDH15 variant and a novel deep‐intronic variant in a Chinese child with profound hearing loss	5
Psychological Distress and Quality of Life in Families With a Germline CDKN2A Pathogenic Variant	5
Next‐generation sequencing in identification of pathogenic variants in primary hyperoxaluria among 21 Egyptian families: Identification of two novel AGXT gene mutations	5
Haplotype‐dependent HLA‐DRB1‐DQB1 susceptibility to occult HBV infection in Xi'an Han population	4
A novel CLCNKB variant in a Chinese family with classic Bartter syndrome and prenatal genetic diagnosis	4
Identification of a novel LMX1B nonsense variant associated with congenital talipes equinovarus by prenatal exome sequencing: A case report	4
A novel splicing variant of VCAN identified in a Chinese family initially diagnosed with familial exudative vitreoretinopathy	4
Assessing population substructure in the Lebanese population: A population study using data on 23 autosomal short tandem repeats	4
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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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A new line method; A direct test in spinal muscular atrophy screening for DBS	4
A new phenotype of EVEN‐PLUS syndrome in a Chinese family and literature review	4
Identification of genetic characteristics in pediatric epilepsy with focal cortical dysplasia type 2 using deep whole‐exome sequencing	4
Allelic and genotypic frequencies of NAT2, CYP2E1, and AADAC genes in a cohort of Peruvian tuberculosis patients	4
A novel and recurrent KLHL40 pathogenic variants in a Chinese family of multiple affected neonates with nemaline myopathy 8	4
The current benefit of genome sequencing compared to exome sequencing in patients with developmental or epileptic encephalopathies	4
NAT2 and CYP2E1 polymorphisms and antituberculosis drug‐induced hepatotoxicity in Peruvian patients	4
Novel De Novo Intronic Variant of SYNGAP1 Associated With the Neurodevelopmental Disorders	4
The clinical utility of a risk‐modifying SNP to detect carriers for spinal muscular atrophy with increased sensitivity	4
Gene polymorphisms of cyclin‐dependent kinase inhibitor and matrix metalloproteinase‐9 in Sudanese patients with esophageal squamous cell carcinoma	4
Implementation of fragile X syndrome carrier screening during prenatal diagnosis: A pilot study at a single center	4
Clinical report and genetic analysis of rare premature infant nephronophthisis caused by biallelic TTC21B variants	4
The impact of CYP19A1 variants and haplotypes on breast cancer risk, clinicopathological features and prognosis	4
Issue Information	4
Atypical mandibulofacial dysostosis with microcephaly diagnosed through the identification of a novel pathogenic mutation in EFTUD2	4
Identification of a de novo variant in the ASXL2 gene related to Shashi‐Pena syndrome	4
The first glycine‐to‐tryptophan substitution in the COL1A1 gene identified in a patient with progressively‐deforming Osteogenesis imperfecta	4
Issue Information	4
Targeted copy number variant identification across the neurodegenerative disease spectrum	4
KBG syndrome: Clinical features and molecular findings in seven unrelated Korean families with a review of the literature	4
Targeted nanopore sequencing enables complete characterisation of structural deletions initially identified using exon‐based short‐read sequencing strategies	4
New pathogenic variants in ARMC5 gene in a series of Italian patients affected by primary bilateral macronodular adrenocortical hyperplasia (PBMAH)	4
Hereditary breast cancer next‐generation sequencing panel evaluation in the south region of Brazil: A novel BRCA2 candidate pathogenic variant is reported	4
Current status of beta‐thalassemia and its treatment strategies	4
Prevalence of Constitutional Pathogenic Variant in a Cohort of 348 Patients With Multiple Primary Cancer Addressed in Oncogenetic Consultation	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
Asymptomatic ASS1 carriers with high blood citrulline levels	4
Association of family sequence similarity gene 13A gene polymorphism and interstitial lung disease susceptibility: A systematic review and meta‐analysis	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
Whole exome sequencing reveals several novel variants in congenital disorders of glycosylation and glycogen storage diseases in seven patients from Iran	4
CRISPR/Cas9 in zebrafish: An attractive model for FBN1 genetic defects in humans	4
Imputed expression of schizophrenia‐associated genes and cognitive measures in patients with schizophrenia	4
Rapid Whole Genome Sequencing Uncovers a Triple Diagnosis: X‐Linked Chondrodysplasia Punctata, MECP2‐Related Disorder, and Mosaic Jacobs Syndrome	4
Whole‐genome sequencing revealed a novel long‐range deletion mutation spanning GNAS in familial pseudohypoparathyroidism	4
Whole exome sequencing identified a novel compound heterozygous variation in COL7A1 gene causing dystrophic epidermolysis bullosa	4
Atypical phenotype of a patient with Bardet–Biedl syndrome type 4	4
Clinical approach for managing patients with unexpected CDH1 mutations: A case report	4
Clinical characteristics of a case of multiple mitochondrial dysfunction syndrome 3	4
Mutations in exon region of BRCA1‐related RING domain 1 gene and risk of breast cancer	4
Issue Information	4
Identification of potential molecular mechanism related to craniofacial dysmorphism caused by FOXI3 deficiency	4
Decreased expression of autophagy‐related genes in the complete remission phase of acute myeloid leukemia	4
Approaches to Evaluate Whole Exome Sequencing Data That Incorporate Genetic Intolerance Scores for Congenital Anomalies, Including Intronic Regions Adjacent to Exons	4
SUMOylated Senataxin functions in genome stability, RNA degradation, and stress granule disassembly, and is linked with inherited ataxia and motor neuron disease	4
Progressive cerebellar atrophy in a patient with complex II and III deficiency and a novel deleterious variant in SDHA: A Counseling Conundrum	4
Congenital disorder of glycosylation with defective fucosylation 2 (FCSK gene defect): The third report in the literature with a mild phenotype	4
Systematic analysis of the causes of NIPS sex chromosome aneuploidy false‐positive results	4
Developmental and epileptic encephalopathy related to a heterozygous variant of the RHOBTB2 gene: A case report from French Guiana	4
Autosomal recessive nonsyndromic hearing impairment in two Finnish families due to the population enriched CABP2 c.637+1G>T variant	4
A Novel Mutation of FOXC1 (P136L) in an Axenfeld–Rieger Syndrome Patient With a Systematized Delusion of Jealousy: A Case Report and Literature Review	3
Correction to “Influence of the Sex of Translocation Carrier on Clinical Outcomes of Couples Undergoing Preimplantation Genetic Testing”	3
A novel variant in the FLCN gene in a Chinese family with Birt–Hogg–Dubé syndrome	3
Unveiling the Genetic and Phenotypic Landscape of a Chinese Cohort With Retinitis Pigmentosa	3
A Maternal Loss‐of‐Function Variant in KHDC3L Gene Causes a Range of Adverse Pregnancy Outcomes: A Case Report	3
Landscape of IDH1/2 mutations in Chinese patients with solid tumors: A pan‐cancer analysis	3
Genetic evaluation of hyperphenylalaninemia patients with tetrahydrobiopterin deficiency in Iranian population: Identification of four novel disease‐causing variants	3
A case of congenital fiber‐type disproportion syndrome presenting dilated cardiomyopathy with ACTA1 mutation	3
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Familial gigantiform cementoma with recurrent ANO5 p.Cys356Tyr mutations: Clinicopathological and genetic study with literature review	3
Maculopathy and adult‐onset ataxia in patients with biallelic MFSD8 variants	3
Variable expressivity in a family with an aggrecanopathy	3
Mutation profiling in South African patients with Cornelia de Lange syndrome phenotype	3
Analysis of X‐inactivation status in a Rett syndrome natural history study cohort	3
CHL1 deletion is associated with cognitive and language disabilities – Case report and review of literature	3
MiR‐191‐5p inhibits lung adenocarcinoma by repressing SATB1 to inhibit Wnt pathway	3
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Clinicopathological features of Lynch syndrome pedigrees with MSH2 c.351G>A gene variant	3
Clinical and genetic findings in Chinese families with congenital ectopia lentis	3
A KCNQ4 Gene Variant (c.701A > G; p.His234Arg) in a Chinese Family With Nonsyndromic Deafness 2A	3
Clinical outcomes of fetuses with chromosome 16 short arm copy number variants	3
Clinical characteristics and identification of a novel TGFB1 variant in three unrelated Chinese families with Camurati‐Engelmann disease	3