Molecular Genetics & Genomic Medicine

Article	Citations
Treatment efficacy of high‐dose creatine supplementation in a child with creatine transporter (SLC6A8) deficiency	70
Congenital adrenal hyperplasia due to two rare CYP21A2 variant alleles, including a novel attenuated CYP21A1P/CYP21A2 chimera	29
The clinical utility of a risk‐modifying SNP to detect carriers for spinal muscular atrophy with increased sensitivity	29
Recommendation of premarital genetic screening in the Syrian Jewish community based on mutation carrier frequencies within Syrian Jewish cohorts	27
A new line method; A direct test in spinal muscular atrophy screening for DBS	26
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New observation of severe tooth malformation in a female patient with ectodermal dysplasia due to the EDA splice acceptor variant c.742‐2A>G	25
Retraction: Population genetic data from 23 autosomal STR loci of Huaxia Platinum system in the Jining Han population	22
Retraction: Comprehensive genetic structure analysis of Han population from Dalian City revealed by 20 Y‐STRs	15
Concordance and characterization of massively parallel sequencing at 58 STRs in a Tibetan population	15
Retraction: Genetic diversity, forensic feature, and phylogenetic analysis of Guizhou Tujia population via 19 X‐STRs	14
Retracted: Yu, L., Li, H., Liu, W., Zhang, L., Tian, Q., Li, H., & Li, M. (2021). miR‐485‐3p serves as a biomarker and therapeutic target of Alzheimer's disease via regulating neuronal cell viabil	14
Three de novo variants in KMT2A (MLL) identified by whole exome sequencing in patients with Wiedemann–Steiner syndrome	13
Risk‐reducing mastectomy decisions among women with mutations in high‐ and moderate‐ penetrance breast cancer susceptibility genes	13
Correction to “Preliminary study on the function of the POLD1 (CDC2) EXON2 c.56G>A mutation”	13
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Silent variant in F8:c.222G>T (p.Thr74Thr) causes a partial exon skipping in a patient with mild hemophilia A	11
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The compound heterozygous mutations of c.607G>a and c.657delC in the FAH gene are associated with renal damage with hereditary tyrosinemia type 1 (HT1)	11
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Rapid high‐resolution melting method to identify human leukocyte antigen‐G (HLA‐G) 3′ untranslated region polymorphism +3142C/G (rs1063320)	10
Genetic mutations in ribosomal biogenesis gene TCOF1 identified in human neural tube defects	10
Issue Information	10
Issue Information	10

Recurrent human 16p11.2 microdeletions in type I Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome patients in Chinese Han population	10
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Genetic analysis and prenatal diagnosis of 76 Chinese families with X‐linked adrenoleukodystrophy	9
Novel compound heterozygous frameshift variants in WDR81 associated with congenital hydrocephalus 3 with brain anomalies: First Chinese prenatal case confirms WDR81 involvement	9
Exome sequencing‐aided precise diagnosis of four families with type I Stickler syndrome	9
Expanding the genetic spectrum of giant axonal neuropathy: Two novel variants in Iranian families	9
Deep analysis of the LRTOMTc.242G>A variant in non‐syndromic hearing loss North African patients and the Berber population: Implications for genetic diagnosis and genealogical studies	9
Precision therapy for a medically actionable ATP1A3 variant from a genomic medicine program in an underserved population	9
Evaluation of novel compound variants of CEP290 in prenatally suspected case of Meckel syndrome through whole exome sequencing	9
First preimplantation genetic testing case of Meckel syndrome with a novel homozygous TXNDC15 variant in a non‐consanguineous Chinese family	9
Two new cases of interstitial 7q35q36.1 deletion including CNTNAP2 and KMT2C	9
MRI characteristics due to gene mutations in a Chinese pedigree with Lafora disease	9
Exome sequencing and RNA analysis identify two novel CPLANE1 variants causing Joubert syndrome	9
A novel synonymous KMT2B variant in a patient with dystonia causes aberrant splicing	9
Novel hemizygous single‐nucleotide duplication in RPGR in a patient with retinal dystrophy and sensorineural hearing loss	9
Whole exome sequencing identified a novel compound heterozygous variation in COL7A1 gene causing dystrophic epidermolysis bullosa	9
Haplotype‐dependent HLA‐DRB1‐DQB1 susceptibility to occult HBV infection in Xi'an Han population	9
Oculocutaneous albinism type 4: Novel compound heterozygous mutations in the SLC45A2 gene in a Chinese case	9
Identification of genetic characteristics in pediatric epilepsy with focal cortical dysplasia type 2 using deep whole‐exome sequencing	9
A case of polyglucosan body myopathy caused by an RBCK1 gene variant and literature review	9
COPA syndrome caused by a novel p.Arg227Cys COPA gene variant	8
Clinical features and underlying mechanisms of KAT6B disease in a Chinese boy	8
Assessing population substructure in the Lebanese population: A population study using data on 23 autosomal short tandem repeats	8
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Identification and interruption of inheritance of familial cryptic translocations: A case report	8
Diagnosis and treatment of MN1 C‐terminal truncation syndrome	8
Matrilineal analysis of mutations in the DMD gene in a multigenerational South Indian cohort using DMD gene panel sequencing	8
Estimation on risk of spontaneous abortions by genomic disorders from a meta‐analysis of microarray results on large case series of pregnancy losses	8
Reasons for failure of noninvasive prenatal test for cell‐free fetal DNA in maternal peripheral blood	8
Minor histocompatibility antigens HA‐8 and PANE1 in the TUNISIAN population	8
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Issue Information	7
The investigation of genetic and clinical features in patients with hereditary spastic paraplegia in central‐Southern China	7
Polymorphisms in the CYP2A6 and ABCC4 genes are associated with a protective effect on chronic myeloid leukemia in the Brazilian Amazon population	7
Custom Next‐Generation Sequencing Identifies Novel Mutations Expanding the Molecular and clinical spectrum of isolated Hearing Impairment or along with defects of the retina, the thyroid, and the kidn	7
Similarity of Phenotype in Three Male Patients With the c.320A>G Variant in ALG13: Possible Genotype–Phenotype Correlation	7
Identification of a novel COL10A1: c.1952 G>T variant in a family with Schmid metaphyseal chondrodysplasia and development of a noninvasive prenatal testing method	7
High throughput screening for expanded CTG repeats in myotonic dystrophy type 1 using melt curve analysis	7
Type 1 early infantile epileptic encephalopathy: A case report and literature review	7
Antenatal description of large 4q13.2q21.23 deletion and outcomes	7
Blood group genotyping in alloimmunized multi‐transfused thalassemia patients from Iran	7
A novel mutation in NF1 gene of patient with Neurofibromatosis type 1: A case report and functional study	7
LAMB2 novel variant c.2885‐9 C>A affects RNA splicing in a minigene assay	7
Issue Information	7
The impact of CYP19A1 variants and haplotypes on breast cancer risk, clinicopathological features and prognosis	7
A novel SYNJ1 homozygous variant causing developmental and epileptic encephalopathy in an Afro‐Caribbean individual	7
Association of MACROD2 gene variants with obesity and physical activity in a Korean population	7
A novel heterozygous mutation in PTHLH causing autosomal dominant brachydactyly type E complicated with short stature	7
Considerations of expanded carrier screening: Lessons learned from combined malonic and methylmalonic aciduria	7
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Synonymous variant at the terminal nucleotide in exon 3 of F7 causes abnormal splicing: A case report	7
Hereditary hemorrhagic telangiectasia: First demonstration of a founder effect in Italy; the ACVRL1 c.289_294del variant originated in the country of Bergamo 200 years ago	7
Identification of rare heterozygous linkage R965C‐R1309H mutations in the pore‐forming region of SCN5A gene associated with complex arrhythmia	7
Asymptomatic ASS1 carriers with high blood citrulline levels	7
Sequential application of copy number variation sequencing and quantitative fluorescence polymerase chain reaction in genetic analysis of miscarriage and stillbirth	7
CRISPR/Cas9 in zebrafish: An attractive model for FBN1 genetic defects in humans	6
Extremely Low Birth Weight Infant (Gestational Age of 29 Weeks) With Kabuki Syndrome Type I: Case Report and Literature Review	6
A de novo variant of BICRA results in Coffin–Siris syndrome 12	6
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Comprehensive application of multiple molecular diagnostic techniques in pre‐implantation genetic testing for monogenic	6
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A homozygous variant of WDR45B results in global developmental delay: Additional case and literature review	6
A novel and recurrent KLHL40 pathogenic variants in a Chinese family of multiple affected neonates with nemaline myopathy 8	6
Compound hemizygous variants in SERPINA7 gene cause thyroxine‐binding globulin deficiency	6
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Issue Information	6
Next‐generation sequence‐based preimplantation genetic testing for monogenic disease resulting from maternal mosaicism	6
CANVAR: A Tool for Clinical Annotation of Variants Using ClinVar Databases	6
Clinical outcome and genotype analysis of four Chinese children with pyruvate kinase deficiency	6
Identification of a novel LMX1B nonsense variant associated with congenital talipes equinovarus by prenatal exome sequencing: A case report	6
Height of non‐Hispanic white adults with homeostatic iron regulator HFE genotypes p.C282Y/p.C282Y and wt/wt	6
Ten‐year follow‐up of Nicolaides–Baraitser syndrome with a de novo mutation and analysis of 58 gene loci of SMARCA2‐associated NCBRS	6
A review of causal discovery methods for molecular network analysis	6
Same family, same mutation, different ECG	6
A novel essential splice site variant in SPTB in a large hereditary spherocytosis family	6
Novel heterozygous variants in the EP300 gene cause Rubinstein–Taybi syndrome 2: Reports from two Chinese children	6
Clinical and genetic characterization of autosomal recessive stickler syndrome caused by novel compound heterozygous mutations in the COL9A3 gene	6
Tremor Ataxia With Central Hypomyelation Phenotype Related to a Recurrent POLR3A Mutation in Six Unrelated Tunisian Families	6
Correlation between large FBN1 deletions and severe cardiovascular phenotype in Marfan syndrome: Analysis of two novel cases and analytical review of the literature	6
A Systematic Review Exploring Empirical Pharmacogenomics Research Within Global Indigenous Populations	6
The phenotype and rhGH treatment response of ring Chromosome 15 Syndrome: Case report and literature review	6
Two novel presentations of KCNMA1‐related pathology––Expanding the clinical phenotype of a rare channelopathy	6
Accelerated epigenetic age and shortened telomere length based on DNA methylation in Nicolaides–Baraitser syndrome	6
Gene spectrum and clinical traits of 10 patients with primary carnitine deficiency	6
Two nonsense GLI3 variants are associated with polydactyly and syndactyly in two families by affecting the sonic hedgehog signaling pathway	6
Identification and functional analysis of a rare variant of gene DHX37 in a patient with 46,XY disorders of sex development	6
Cohen syndrome in two patients from China	6
Atypical phenotype of a patient with Bardet–Biedl syndrome type 4	6
Germline mutations in homologous recombination repair genes among Chinese pancreatic ductal adenocarcinoma patients detected using next‐generation sequencing	5
Genetic and clinical heterogeneity in Korean patients with Rubinstein–Taybi syndrome	5
Controversial molecular functions of CBS versus non‐CBS domain variants of PRKAG2 in arrhythmia and cardiomyopathy: A case report and literature review	5
In a cohort of 961 clinically suspected Duchenne muscular dystrophy patients, 105 were diagnosed to have other muscular dystrophies (OMDs), with LGMD2E (variant SGCB c.	5
Newborn Screening for Isovaleric Acidemia: Treatment With Pivalate‐Generating Antibiotics Contributed to False C5‐Carnitine Positivity in a Chinese Population	5
The first glycine‐to‐tryptophan substitution in the COL1A1 gene identified in a patient with progressively‐deforming Osteogenesis imperfecta	5
Next‐generation sequencing through multi‐gene panel testing for the diagnosis of a Chinese patient with atypical Cockayne syndrome	5
A novel frameshift mutation of DVL1‐induced Robinow syndrome: A case report and literature review	5
Developmental and epileptic encephalopathy related to a heterozygous variant of the RHOBTB2 gene: A case report from French Guiana	5
Clinical findings from the landmark MEF2C‐related disorders natural history study	5
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	5
Vitamin D status and CYP27B1‐1260 promoter polymorphism in Tunisian patients with systemic lupus erythematosus	5
Preparing genomic revolution: Attitudes, clinical practice, and training needs in delivering genetic counseling in primary care in Hong Kong and Shenzhen, China	5
Not just a carrier: Clinical presentation and management of patients with heterozygous disease‐causing alkaline phosphatase (ALPL) variants identified through expanded carrier screening	5
Novel SARS2 variants identified in a Chinese girl with HUPRA syndrome	5
NAT2 and CYP2E1 polymorphisms and antituberculosis drug‐induced hepatotoxicity in Peruvian patients	5
Autism spectrum disorder profiles in RASopathies: A systematic review	5
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	5
Parental mosaicism rather than de novo variants in FOXG1‐related syndrome and TUBA1A‐associated Tubulinopathy: Familial case reports	5
Genetic testing and new variants in diagnosis of congenital ichthyoses	5
Development of a Tagmentation‐Based Next‐Generation Sequencing Clinical Assay as an Alternative to Capillary Electrophoresis‐Based Sequencing	5
Correction to “A novel, likely pathogenic variant in UBTF‐related neurodegeneration with brain atrophy is associated with a severe divergent neurodevelopmental phenotype”	5
A novel missense variant located within the zinc finger domain of the GLI3 gene was identified in a Vietnamese pedigree with index finger polydactyly	5
A case of congenital cataracts with hypotrichosis caused by compound heterozygous variants in the LSS gene	5
A nonsense mutation inMMEgene associates with autosomal recessive late‐onsetCharcot–Marie–Toothdisease	5
Whole exome sequencing identified a rare WT1 loss‐of‐function variant in a non‐syndromic POI patient	5
The clinico‐radiological findings of MSUD in a group of Egyptian children: Contribution to early diagnosis and outcome	5
MiR‐766‐3p Inhibit the Proliferation, Stemness, and Cell Cycle of Pancreatic Cancer Cells Through the MAPK/ERK Signaling Pathway	5
Activity of daily living in mucopolysaccharidosis IVA patients: Evaluation of therapeutic efficacy	5
Novel and recurrent nuclear gene variations in a cohort of Chinese progressive external ophthalmoplegia patients with multiple mtDNA deletions	5
Hyaline fibromatosis syndrome with a novel 4.41‐kb deletion in ANTXR2 gene: A case report and literature review	5
Identification of a homozygous frameshift mutation in the FGF3 gene in a consanguineous Iranian family: First report of labyrinthine aplasia, microtia, and microdontia syndrome in Iran and lite	5
SUMOylated Senataxin functions in genome stability, RNA degradation, and stress granule disassembly, and is linked with inherited ataxia and motor neuron disease	5
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Unraveling Alström syndrome: Homozygous mutation c.2729C>G in ALMS1 gene across an extended family	5
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	5
Genetic evaluation of cardiomyopathies in Qatar identifies enrichment of pathogenic sarcomere gene variants and possible founder disease mutations in the Arabs	5
Parkinson's Disease Polygenic Risk Score and Neurological Involvement in Carriers of the FMR1 Premutation Allele: A Case for Genetic Modifier	5
Decreased expression of autophagy‐related genes in the complete remission phase of acute myeloid leukemia	5
A novel homozygous mutation of the PCNT gene in a Chinese patient with microcephalic osteodysplastic primordial dwarfism type II	5
Mutation spectrum of hearing loss patients in Northwest China: Identification of 20 novel variants	5

Clinical exome sequencing reveals a mutation in PDHA1 in Leigh syndrome: A case of a Chinese boy with lethal neuropathy	5
Genetic of preimplantation diagnosis of dysmorphic facial features and intellectual developmental disorder (CHDFIDD) without congenital heart defects	5
Alpha‐enolase 1 knockdown facilitates the proliferation and invasion of villous trophoblasts by upregulating COX‐2	5
Implementation of fragile X syndrome carrier screening during prenatal diagnosis: A pilot study at a single center	5
Identification of a novel microdeletion causative of Nance‐Horan syndrome	5
Update on a previously reported missense mutation: The c.1160 C>A mutation in the UGT1A1 gene result in Crigler–Najjar syndrome type 1	5
Mutation analysis in patients with nonsyndromic tooth agenesis using exome sequencing	5
Mutation spectrum of congenital heart disease in a consanguineous Turkish population	5
Atypical mandibulofacial dysostosis with microcephaly diagnosed through the identification of a novel pathogenic mutation in EFTUD2	5
A novel partial de novo duplication of JARID2 gene causing a neurodevelopmental phenotype	4
Identification of potential molecular mechanism related to craniofacial dysmorphism caused by FOXI3 deficiency	4
Novel compound heterozygous variants in MARVELD2 causing autosomal recessive hearing loss in two Chinese families	4
Assessing the association of common genetic variants in EPHB4 and RASA1 with phenotype severity in familial cerebral cavernous malformation	4
Promoter hypermethylation of RARB and GSTP1 genes in plasma cell‐free DNA as breast cancer biomarkers in Peruvian women	4
The use of telemedicine in cardiogenetics clinical practice during the COVID‐19 pandemic	4
Issue Information	4
KBG syndrome: Clinical features and molecular findings in seven unrelated Korean families with a review of the literature	4
Dramatic Clinical Improvement With Biotin Mega‐Dose Therapy in a Neonate With Holocarboxylase Synthetase Deficiency	4
Compound heterozygous null mutations of NOBOX in sisters with delayed puberty and primary amenorrhea	4
Identification of a de novo variant in the ASXL2 gene related to Shashi‐Pena syndrome	4
Hyperhaemolysis in a pregnant woman with a homozygous β0‐thalassemia mutation and two genetic modifiers	4
Two heterozygous mutations in the calcium/calmodulin‐dependent serine protein kinase gene (CASK) in cases with developmental disorders	4
Identification of two novel COL3A1 variants in patients with vascular Ehlers‐Danlos syndrome	4
Population‐based screening of Uruguayan Ashkenazi Jews for recurrent BRCA1 and BRCA2 pathogenic sequence variants	4
A new phenotype of EVEN‐PLUS syndrome in a Chinese family and literature review	4
Non‐invasive prenatal testing for the prenatal screening of sex chromosome aneuploidies: A systematic review and meta‐analysis of diagnostic test accuracy studies	4
Clinical report and genetic analysis of a Chinese neonate with craniofacial microsomia caused by a splicing variant of the splicing factor 3b subunit 2 gene	4
Clinical approach for managing patients with unexpected CDH1 mutations: A case report	4
Panel‐based genetic testing for inherited retinal disease screening 176 genes	4
Mutated neuron navigator 3 as a candidate gene for a rare neurodevelopmental disorder	4
Further delineation of Wiedemann‐Rautenstrauch syndrome linked with POLR3A	4
Worldwide variation of the COL14A1 gene is shaped by genetic drift rather than selective pressure	4
Targeted copy number variant identification across the neurodegenerative disease spectrum	4
Frameshift Mutation in PAX2 Related to Focal Segmental Glomerular Sclerosis: A Case Report and Literature Review	4
Clinical features and molecular characterization of Chinese patients with FKBP10 variants	4
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A single heterozygous nonsense mutation in the TTC21B gene causes adult‐onset nephronophthisis 12: A case report and review of literature	4
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A novel heterozygous PKD1 variant causing alternative splicing in a Chinese family with autosomal dominant polycystic kidney disease	4
Case report of a child with long QT syndrome type 14 caused by CALM1 gene mutation and literature review	4
Association of family sequence similarity gene 13A gene polymorphism and interstitial lung disease susceptibility: A systematic review and meta‐analysis	4
Association of the STAT4, CDKN1A, and IRF5 variants with risk of lupus nephritis and renal biopsy classification in patients in Vietnam	4
A novel CLCNKB variant in a Chinese family with classic Bartter syndrome and prenatal genetic diagnosis	4
Rare variant of TBL1XR1 in West syndrome: A case report	4
Elevated plasma miR‐210 expression is associated with atypical genitalia in patients with 46,XY differences in sex development	4
The value of primary transcripts to the clinical and non‐clinical genomics community: Survey results and roadmap for improvements	4
Novel de novo mutation in ZBTB20 in a Chinese Primrose syndrome family and a review of the literature	4
Gnathodiaphyseal dysplasia with a novel genetic variant in a large family from Iran	4
Novel HPD mutation p.A244V compound with p.T219M causing tyrosinemia type III in a Chinese girl and review of the genotype–phenotype spectrum	4
Clinical and genetic variability among Bulgarian patients with autosomal recessive spastic ataxia of Charlevoix–Saguenay	4
Two novel ectodysplasin A gene mutations and prenatal diagnosis of X‐linked hypohidrotic ectodermal dysplasia	4
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A Leigh syndrome caused by compound heterozygous mutations on NDUFAF5 induce early infant death: A case report	4
Clinically significant findings in a decade‐long retrospective study of prenatal chromosomal microarray testing	4
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A novel de novo TP63 mutation in whole‐exome sequencing of a Syrian family with Oral cleft and ectrodactyly	4
RAF1 mutation leading to hypertrophic cardiomyopathy in a Chinese family with a history of sudden cardiac death: A diagnostic insight into Noonan syndrome	4
A Korean Patient With Leber Congenital Amaurosis and a Homozygous RPE65 Variant Originating From a Paternal Uniparental Isodisomy	4
Mutation of FLNA attenuating the migration of abdominal muscles contributed to Melnick–Needles syndrome (MNS) in a family with recurrent miscarriage	4
Hereditary breast cancer next‐generation sequencing panel evaluation in the south region of Brazil: A novel BRCA2 candidate pathogenic variant is reported	4
Mutations in exon region of BRCA1‐related RING domain 1 gene and risk of breast cancer	4
Clinicoradiographic and genetic features of cerebral small vessel disease indicate variability in mode of inheritance for monoallelic HTRA1 variants	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
Congenital Hypotonia: Cracking a SAGA of consanguineous kindred harboring four genetic variants	4
Pyridoxine‐responsive KCNQ2 epileptic encephalopathy: Additional cases and literature review	4
Third‐generation sequencing identified two rare α‐chain variants leading to hemoglobin variants in Chinese population	4
The causes of Fanconi anemia in South Asia and the Middle East: A case series and review of the literature	4
Hypertension in NF1: A closer look at the primacy of essential hypertension versus secondary causes	4
In silico modeling of the interaction between TEX19 and LIRE1, and analysis of TEX19 gene missense SNPs	4
Opitz GBBB syndrome with total anomalous pulmonary venous connection: A new MID1 gene variant	4
Targeted next‐generation sequencing reveals the genetic mechanism of Chinese Marfan syndrome cohort with ocular manifestation	4
Clinical report and genetic analysis of rare premature infant nephronophthisis caused by biallelic TTC21B variants	4
The face of Non‐photosensitive trichothiodystrophy phenotypic spectrum: A subsequent study on paediatric population	4
Delineation of the Genetic Architecture and Clinical Polymorphism of 3q29 Duplication Syndrome: A Review of the Literature and a Report of Two Novel Patients With Single‐Gene BDH1 Duplications	3
A novel, likely pathogenic variant in UBTF‐related neurodegeneration with brain atrophy is associated with a severe divergent neurodevelopmental phenotype	3
A homozygous stop codon in HORMAD2 in a patient with recurrent digynic triploid miscarriage	3
Variants of ATP1A3 in residue 756 cause a separate phenotype of relapsing encephalopathy with cerebellar ataxia (RECA)—Report of two cases and literature review	3
Comparison of first‐tier whole‐exome sequencing with a multi‐step traditional approach for diagnosing paediatric outpatients: An Italian prospective study	3
Prenatal whole‐exome sequencing in fetuses with increased nuchal translucency	3
A novel splicing variant of VCAN identified in a Chinese family initially diagnosed with familial exudative vitreoretinopathy	3
Imputed expression of schizophrenia‐associated genes and cognitive measures in patients with schizophrenia	3
Congenital disorder of glycosylation with defective fucosylation 2 (FCSK gene defect): The third report in the literature with a mild phenotype	3
A novel de novo HDAC8 missense mutation causing Cornelia de Lange syndrome	3
Malformations of cortical development: Fetal imaging and genetics	3
Social media use by patients with hypermobile Ehlers–Danlos syndrome	3
Further delineation of phenotype and genotype of Kenny–Caffey syndrome type 2 (phenotype and genotype of KCS type 2)	3
Successful Diagnosis of Sengers Syndrome Using a Comprehensive Genomic Analysis	3
First reported CABP2‐related non‐syndromic hearing loss in Northern Europe	3
Novel homozygous protein‐truncating mutation of BBS9 identified in a Chinese consanguineous family with Bardet–Biedl syndrome	3
A novel heterozygous variant of FOXJ1 in a Chinese female with primary ciliary dyskinesia and hydrocephalus: A case report and literature review	3
Adult‐onset Niemann–Pick disease type C masquerading as spinocerebellar ataxia	3
A genotype and phenotype analysis of SMAD6 mutant patients with radioulnar synostosis	3
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The clinical value of optical genome mapping in the rapid characterization of RB1 duplication and 15q23q24.2 triplication, for more appropriate prenatal genetic counselling	3