Molecular Genetics & Genomic Medicine

Article	Citations
Congenital adrenal hyperplasia due to two rare CYP21A2 variant alleles, including a novel attenuated CYP21A1P/CYP21A2 chimera	89
The clinical utility of a risk‐modifying SNP to detect carriers for spinal muscular atrophy with increased sensitivity	30
A new line method; A direct test in spinal muscular atrophy screening for DBS	29
Recommendation of premarital genetic screening in the Syrian Jewish community based on mutation carrier frequencies within Syrian Jewish cohorts	29
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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	28
Issue Information	22
A Korean Patient With Leber Congenital Amaurosis and a Homozygous RPE65 Variant Originating From a Paternal Uniparental Isodisomy	16
Risk‐reducing mastectomy decisions among women with mutations in high‐ and moderate‐ penetrance breast cancer susceptibility genes	15
Issue Information	14
Rapid Whole Genome Sequencing Uncovers a Triple Diagnosis: X‐Linked Chondrodysplasia Punctata, MECP2‐Related Disorder, and Mosaic Jacobs Syndrome	14
Three de novo variants in KMT2A (MLL) identified by whole exome sequencing in patients with Wiedemann–Steiner syndrome	14
Loss‐of‐Function CARS1 Variants in a Patient With Microcephaly, Developmental Delay, and a Brittle Hair Phenotype	13
Novel De Novo RALA Missense Variants Expand the Genotype Spectrum of Hiatt‐Neu‐Cooper Neurodevelopmental Syndrome	13
The First Evidence for the Role of ACVR2A Gene Fetal Genotype in Preeclampsia Susceptibility	13
Unmasking a Recessive Allele by a Rare Interstitial Deletion at 10q26.13q26.2: Prenatal Diagnosis of MMP21 ‐Related Disorder and Further Refine INSYN2A Involvement	13
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Germline mutations in homologous recombination repair genes among Chinese pancreatic ductal adenocarcinoma patients detected using next‐generation sequencing	11
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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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Correction to “Preliminary study on the function of the POLD1 (CDC2) EXON2 c.56G>A mutation”	11
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	10
Genetic mutations in ribosomal biogenesis gene TCOF1 identified in human neural tube defects	10
Retraction: Population genetic data from 23 autosomal STR loci of Huaxia Platinum system in the Jining Han population	10

Issue Information	10
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Rapid high‐resolution melting method to identify human leukocyte antigen‐G (HLA‐G) 3′ untranslated region polymorphism +3142C/G (rs1063320)	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
Two new cases of interstitial 7q35q36.1 deletion including CNTNAP2 and KMT2C	9
Oculocutaneous albinism type 4: Novel compound heterozygous mutations in the SLC45A2 gene in a Chinese case	9
A novel synonymous KMT2B variant in a patient with dystonia causes aberrant splicing	9
Retraction: Genetic diversity, forensic feature, and phylogenetic analysis of Guizhou Tujia population via 19 X‐STRs	9
Recurrent human 16p11.2 microdeletions in type I Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome patients in Chinese Han population	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
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
Expanding the genetic spectrum of giant axonal neuropathy: Two novel variants in Iranian families	9
Issue Information	9
First preimplantation genetic testing case of Meckel syndrome with a novel homozygous TXNDC15 variant in a non‐consanguineous Chinese family	9
Retraction: Comprehensive genetic structure analysis of Han population from Dalian City revealed by 20 Y‐STRs	9
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Exome sequencing and RNA analysis identify two novel CPLANE1 variants causing Joubert syndrome	9
A case of polyglucosan body myopathy caused by an RBCK1 gene variant and literature review	9
Genetic analysis and prenatal diagnosis of 76 Chinese families with X‐linked adrenoleukodystrophy	9
A case of congenital cataracts with hypotrichosis caused by compound heterozygous variants in the LSS gene	8
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MRI characteristics due to gene mutations in a Chinese pedigree with Lafora disease	8
Identification and interruption of inheritance of familial cryptic translocations: A case report	8
Assessing population substructure in the Lebanese population: A population study using data on 23 autosomal short tandem repeats	8
Alpha‐enolase 1 knockdown facilitates the proliferation and invasion of villous trophoblasts by upregulating COX‐2	8
Exome sequencing‐aided precise diagnosis of four families with type I Stickler syndrome	8
Clinical features and underlying mechanisms of KAT6B disease in a Chinese boy	8
Matrilineal analysis of mutations in the DMD gene in a multigenerational South Indian cohort using DMD gene panel sequencing	8
Reasons for failure of noninvasive prenatal test for cell‐free fetal DNA in maternal peripheral blood	8
Diagnosis and treatment of MN1 C‐terminal truncation syndrome	8
COPA syndrome caused by a novel p.Arg227Cys COPA gene variant	8
Minor histocompatibility antigens HA‐8 and PANE1 in the TUNISIAN population	8
Issue Information	7
Synonymous variant at the terminal nucleotide in exon 3 of F7 causes abnormal splicing: A case report	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
Polymorphisms in the CYP2A6 and ABCC4 genes are associated with a protective effect on chronic myeloid leukemia in the Brazilian Amazon population	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
Ten‐year follow‐up of Nicolaides–Baraitser syndrome with a de novo mutation and analysis of 58 gene loci of SMARCA2‐associated NCBRS	7
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Sequential application of copy number variation sequencing and quantitative fluorescence polymerase chain reaction in genetic analysis of miscarriage and stillbirth	7
Blood group genotyping in alloimmunized multi‐transfused thalassemia patients from Iran	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
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
A novel SYNJ1 homozygous variant causing developmental and epileptic encephalopathy in an Afro‐Caribbean individual	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
Similarity of Phenotype in Three Male Patients With the c.320A>G Variant in ALG13: Possible Genotype–Phenotype Correlation	7
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Identification and functional analysis of a rare variant of gene DHX37 in a patient with 46,XY disorders of sex development	7
Issue Information	7
Identification of a novel LMX1B nonsense variant associated with congenital talipes equinovarus by prenatal exome sequencing: A case report	7
Asymptomatic ASS1 carriers with high blood citrulline levels	7
A novel heterozygous mutation in PTHLH causing autosomal dominant brachydactyly type E complicated with short stature	7
Identification of genetic characteristics in pediatric epilepsy with focal cortical dysplasia type 2 using deep whole‐exome sequencing	6
Same family, same mutation, different ECG	6
CANVAR: A Tool for Clinical Annotation of Variants Using ClinVar Databases	6
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Implementation of fragile X syndrome carrier screening during prenatal diagnosis: A pilot study at a single center	6
Next‐generation sequence‐based preimplantation genetic testing for monogenic disease resulting from maternal mosaicism	6
Issue Information	6
Cohen syndrome in two patients from China	6
The phenotype and rhGH treatment response of ring Chromosome 15 Syndrome: Case report and literature review	6
CRISPR/Cas9 in zebrafish: An attractive model for FBN1 genetic defects in humans	6
Novel heterozygous variants in the EP300 gene cause Rubinstein–Taybi syndrome 2: Reports from two Chinese children	6
Extremely Low Birth Weight Infant (Gestational Age of 29 Weeks) With Kabuki Syndrome Type I: Case Report and Literature Review	6
Atypical phenotype of a patient with Bardet–Biedl syndrome type 4	6
A homozygous variant of WDR45B results in global developmental delay: Additional case and literature review	6
Two novel presentations of KCNMA1‐related pathology––Expanding the clinical phenotype of a rare channelopathy	6
A Systematic Review Exploring Empirical Pharmacogenomics Research Within Global Indigenous Populations	6
A de novo variant of BICRA results in Coffin–Siris syndrome 12	6
Next‐generation sequencing through multi‐gene panel testing for the diagnosis of a Chinese patient with atypical Cockayne syndrome	6
Issue Information	6
Two nonsense GLI3 variants are associated with polydactyly and syndactyly in two families by affecting the sonic hedgehog signaling pathway	6
Preparing genomic revolution: Attitudes, clinical practice, and training needs in delivering genetic counseling in primary care in Hong Kong and Shenzhen, China	6
Tremor Ataxia With Central Hypomyelation Phenotype Related to a Recurrent POLR3A Mutation in Six Unrelated Tunisian Families	6
Issue Information	6
Height of non‐Hispanic white adults with homeostatic iron regulator HFE genotypes p.C282Y/p.C282Y and wt/wt	6
A novel frameshift mutation of DVL1‐induced Robinow syndrome: A case report and literature review	6
Clinical outcome and genotype analysis of four Chinese children with pyruvate kinase deficiency	6
A novel essential splice site variant in SPTB in a large hereditary spherocytosis family	6
Autism spectrum disorder profiles in RASopathies: A systematic review	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
MiR‐766‐3p Inhibit the Proliferation, Stemness, and Cell Cycle of Pancreatic Cancer Cells Through the MAPK/ERK Signaling Pathway	5
A novel and recurrent KLHL40 pathogenic variants in a Chinese family of multiple affected neonates with nemaline myopathy 8	5
Mutation spectrum of congenital heart disease in a consanguineous Turkish population	5
Parental mosaicism rather than de novo variants in FOXG1‐related syndrome and TUBA1A‐associated Tubulinopathy: Familial case reports	5
Prevalence of Constitutional Pathogenic Variant in a Cohort of 348 Patients With Multiple Primary Cancer Addressed in Oncogenetic Consultation	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
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
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
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)	5
A review of causal discovery methods for molecular network analysis	5
Correction to “A novel, likely pathogenic variant in UBTF‐related neurodegeneration with brain atrophy is associated with a severe divergent neurodevelopmental phenotype”	5
The clinico‐radiological findings of MSUD in a group of Egyptian children: Contribution to early diagnosis and outcome	5
Newborn Screening for Isovaleric Acidemia: Treatment With Pivalate‐Generating Antibiotics Contributed to False C5‐Carnitine Positivity in a Chinese Population	5
Hyaline fibromatosis syndrome with a novel 4.41‐kb deletion in ANTXR2 gene: A case report and literature review	5
Hereditary breast cancer next‐generation sequencing panel evaluation in the south region of Brazil: A novel BRCA2 candidate pathogenic variant is reported	5
The first glycine‐to‐tryptophan substitution in the COL1A1 gene identified in a patient with progressively‐deforming Osteogenesis imperfecta	5
Novel and recurrent nuclear gene variations in a cohort of Chinese progressive external ophthalmoplegia patients with multiple mtDNA deletions	5
Identification of a novel microdeletion causative of Nance‐Horan syndrome	5
Mutation spectrum of hearing loss patients in Northwest China: Identification of 20 novel variants	5
A novel homozygous mutation of the PCNT gene in a Chinese patient with microcephalic osteodysplastic primordial dwarfism type II	5
Incomplete Trisomy Rescue Reveals the Mechanism Underlying Discordance Between Noninvasive Prenatal Screening and Prenatal Diagnosis	5
Genetic and clinical heterogeneity in Korean patients with Rubinstein–Taybi syndrome	5
SUMOylated Senataxin functions in genome stability, RNA degradation, and stress granule disassembly, and is linked with inherited ataxia and motor neuron disease	5
A nonsense mutation inMMEgene associates with autosomal recessive late‐onsetCharcot–Marie–Toothdisease	5
Activity of daily living in mucopolysaccharidosis IVA patients: Evaluation of therapeutic efficacy	5
Accelerated epigenetic age and shortened telomere length based on DNA methylation in Nicolaides–Baraitser syndrome	5
Parkinson's Disease Polygenic Risk Score and Neurological Involvement in Carriers of the FMR1 Premutation Allele: A Case for Genetic Modifier	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
Atypical mandibulofacial dysostosis with microcephaly diagnosed through the identification of a novel pathogenic mutation in EFTUD2	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
Decreased expression of autophagy‐related genes in the complete remission phase of acute myeloid leukemia	5
Mutation analysis in patients with nonsyndromic tooth agenesis using exome sequencing	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
NAT2 and CYP2E1 polymorphisms and antituberculosis drug‐induced hepatotoxicity in Peruvian patients	5
Clinical findings from the landmark MEF2C‐related disorders natural history study	5
Comprehensive application of multiple molecular diagnostic techniques in pre‐implantation genetic testing for monogenic	5
Dramatic Clinical Improvement With Biotin Mega‐Dose Therapy in a Neonate With Holocarboxylase Synthetase Deficiency	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
Developmental and epileptic encephalopathy related to a heterozygous variant of the RHOBTB2 gene: A case report from French Guiana	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
Estimation on risk of spontaneous abortions by genomic disorders from a meta‐analysis of microarray results on large case series of pregnancy losses	5

Development of a Tagmentation‐Based Next‐Generation Sequencing Clinical Assay as an Alternative to Capillary Electrophoresis‐Based Sequencing	5
Controversial molecular functions of CBS versus non‐CBS domain variants of PRKAG2 in arrhythmia and cardiomyopathy: A case report and literature review	5
Genetic testing and new variants in diagnosis of congenital ichthyoses	5
Unraveling Alström syndrome: Homozygous mutation c.2729C>G in ALMS1 gene across an extended family	5
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Molecular Pathology of Myotonic Dystrophy Type 1 in Iceland	4
Clinical report and genetic analysis of rare premature infant nephronophthisis caused by biallelic TTC21B variants	4
Comprehensive characterization and building of National Registry of von Hippel–Lindau disease in Brazil	4
Imputed expression of schizophrenia‐associated genes and cognitive measures in patients with schizophrenia	4
Mutation of FLNA attenuating the migration of abdominal muscles contributed to Melnick–Needles syndrome (MNS) in a family with recurrent miscarriage	4
Monochorionic twins with 15q26.3 duplication presenting with selective intrauterine growth restriction and discordant cardiac anomalies: A case report	4
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Clinical characteristics and genotype analysis of a Chinese patient with juvenile arthritis due to novel LACC1 frameshift mutation and literature review	4
Elevated plasma miR‐210 expression is associated with atypical genitalia in patients with 46,XY differences in sex development	4
Diaphragmatic paralysis in a neonate with circumferential skin creases Kunze type	4
Hypertension in NF1: A closer look at the primacy of essential hypertension versus secondary causes	4
Case report of a child with long QT syndrome type 14 caused by CALM1 gene mutation and literature review	4
A new phenotype of EVEN‐PLUS syndrome in a Chinese family and literature review	4
Further delineation of Wiedemann‐Rautenstrauch syndrome linked with POLR3A	4
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Genetic of preimplantation diagnosis of dysmorphic facial features and intellectual developmental disorder (CHDFIDD) without congenital heart defects	4
Clinicoradiographic and genetic features of cerebral small vessel disease indicate variability in mode of inheritance for monoallelic HTRA1 variants	4
A Novel Biallelic Variant in IHH Causing Acrocapitofemoral Dysplasia in a Pakistani Family	4
Genetic screening of 15 hearing loss variants in 77,647 neonates with clinical follow‐up	4
Clinical observation and genetic analysis of a SYNS1 family caused by novel NOG gene mutation	4
Novel compound heterozygous SUCLG1 variants may contribute to mitochondria DNA depletion syndrome‐9	4
Issue Information	4
A genotype and phenotype analysis of SMAD6 mutant patients with radioulnar synostosis	4
“Progressive myoclonic ataxia and developmental/epileptic encephalopathy associated with a novel homozygous mutation in TCN2 gene”	4
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Novel De Novo Intronic Variant of SYNGAP1 Associated With the Neurodevelopmental Disorders	4
A novel CLCNKB variant in a Chinese family with classic Bartter syndrome and prenatal genetic diagnosis	4
Opitz GBBB syndrome with total anomalous pulmonary venous connection: A new MID1 gene variant	4
Adults with lysosomal storage diseases in the undiagnosed diseases network	4
Novel de novo mutation in ZBTB20 in a Chinese Primrose syndrome family and a review of the literature	4
Mutations in exon region of BRCA1‐related RING domain 1 gene and risk of breast cancer	4
A novel heterozygous PKD1 variant causing alternative splicing in a Chinese family with autosomal dominant polycystic kidney disease	4
Clinically significant findings in a decade‐long retrospective study of prenatal chromosomal microarray testing	4
Assessing the association of common genetic variants in EPHB4 and RASA1 with phenotype severity in familial cerebral cavernous malformation	4
Whole exome sequencing identified a rare WT1 loss‐of‐function variant in a non‐syndromic POI patient	4
Association of family sequence similarity gene 13A gene polymorphism and interstitial lung disease susceptibility: A systematic review and meta‐analysis	4
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G378X‐I148T CFTR variant: A new complex allele in a cystic fibrosis newborn with pancreatic insufficiency	4
A novel partial de novo duplication of JARID2 gene causing a neurodevelopmental phenotype	4
Systematic analysis of the causes of NIPS sex chromosome aneuploidy false‐positive results	4
Next‐generation phenotyping in cat‐eye syndrome based on computer‐aided facial dysmorphology analysis of normal photographs	4
The value of primary transcripts to the clinical and non‐clinical genomics community: Survey results and roadmap for improvements	4
Prenatal whole‐exome sequencing in fetuses with increased nuchal translucency	4
In silico modeling of the interaction between TEX19 and LIRE1, and analysis of TEX19 gene missense SNPs	4
Exome sequencing in a child with neurodevelopmental disorder and epilepsy: Variant analysis of the AHNAK2 gene	4
Third‐generation sequencing identified two rare α‐chain variants leading to hemoglobin variants in Chinese population	4
Identification of two novel COL3A1 variants in patients with vascular Ehlers‐Danlos syndrome	4
Analysis of L1CAM gene mutation and imaging appearance in three Chinese families with L1 syndrome: Three case reports	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
Identification of a de novo variant in the ASXL2 gene related to Shashi‐Pena syndrome	4
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Identification of potential molecular mechanism related to craniofacial dysmorphism caused by FOXI3 deficiency	4
A novel de novo HDAC8 missense mutation causing Cornelia de Lange syndrome	4
Clinical characteristics of a case of multiple mitochondrial dysfunction syndrome 3	3
Frameshift Mutation in PAX2 Related to Focal Segmental Glomerular Sclerosis: A Case Report and Literature Review	3
Congenital disorder of glycosylation with defective fucosylation 2 (FCSK gene defect): The third report in the literature with a mild phenotype	3
Whole exome sequencing reveals several novel variants in congenital disorders of glycosylation and glycogen storage diseases in seven patients from Iran	3
The causes of Fanconi anemia in South Asia and the Middle East: A case series and review of the literature	3
Compound heterozygous ABCA12 variants identified in a Chinese patient with congenital ichthyosiform erythroderma: Advancing genotype–phenotype correlations and literature review	3
A novel mutation of AMHR2 in two brothers with persistent Müllerian duct syndrome and their intracytoplasmic sperm injection outcome	3
Targeted copy number variant identification across the neurodegenerative disease spectrum	3
KBG syndrome: Clinical features and molecular findings in seven unrelated Korean families with a review of the literature	3
A novel CEP57 variant associated with mosaic variegated aneuploidy syndrome in a Chinese female presenting with short stature, microcephaly, brachydactyly, and small teeth	3
Promoter hypermethylation of RARB and GSTP1 genes in plasma cell‐free DNA as breast cancer biomarkers in Peruvian women	3
Two novel ectodysplasin A gene mutations and prenatal diagnosis of X‐linked hypohidrotic ectodermal dysplasia	3
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Hyperhaemolysis in a pregnant woman with a homozygous β0‐thalassemia mutation and two genetic modifiers	3
A novel heterozygous variant of FOXJ1 in a Chinese female with primary ciliary dyskinesia and hydrocephalus: A case report and literature review	3
Clinical approach for managing patients with unexpected CDH1 mutations: A case report	3
Comparison of first‐tier whole‐exome sequencing with a multi‐step traditional approach for diagnosing paediatric outpatients: An Italian prospective study	3
A novel fusion between CDC42BPB and ALK in a patient with quadruple wild‐type gastrointestinal stromal tumor	3
Early onset horizontal gaze palsy and progressive scoliosis due to a noncanonical splicing‐site variant and a missense variant in the ROBO3 gene	3
Population‐based screening of Uruguayan Ashkenazi Jews for recurrent BRCA1 and BRCA2 pathogenic sequence variants	3
Contribution of uniparental disomy in a clinical trio exome cohort of 2675 patients	3
Mutated neuron navigator 3 as a candidate gene for a rare neurodevelopmental disorder	3
The use of telemedicine in cardiogenetics clinical practice during the COVID‐19 pandemic	3
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Social media use by patients with hypermobile Ehlers–Danlos syndrome	3
Targeted next‐generation sequencing reveals the genetic mechanism of Chinese Marfan syndrome cohort with ocular manifestation	3
Clinical application value of pre‐pregnancy carrier screening in Chinese Han childbearing population	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
A novel de novo TP63 mutation in whole‐exome sequencing of a Syrian family with Oral cleft and ectrodactyly	3
A homozygous stop codon in HORMAD2 in a patient with recurrent digynic triploid miscarriage	3
Clinical and genetic variability among Bulgarian patients with autosomal recessive spastic ataxia of Charlevoix–Saguenay	3
A Leigh syndrome caused by compound heterozygous mutations on NDUFAF5 induce early infant death: A case report	3
Gnathodiaphyseal dysplasia with a novel genetic variant in a large family from Iran	3
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	3
The clinical, myopathological, and genetic analysis of 155 Chinese mitochondrial ophthalmoplegia patients with mitochondrial DNA single large deletions	3
X‐chromosomal inactivation patterns in women with Fabry disease	3
Prenatal diagnosis of a skeletal disorder characterized by rhizomelic shortening of limbs caused by compound heterozygous variants in the PKDCC gene: Case report and literature revie	3