Molecular Genetics & Genomic Medicine

Article	Citations
	105
COPA syndrome caused by a novel p.Arg227Cys COPA gene variant	43
Exome sequencing‐aided precise diagnosis of four families with type I Stickler syndrome	19
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	17
Activity of daily living in mucopolysaccharidosis IVA patients: Evaluation of therapeutic efficacy	16
Development of a Tagmentation‐Based Next‐Generation Sequencing Clinical Assay as an Alternative to Capillary Electrophoresis‐Based Sequencing	15
Mutation spectrum of congenital heart disease in a consanguineous Turkish population	15
Recurrent human 16p11.2 microdeletions in type I Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome patients in Chinese Han population	15
First preimplantation genetic testing case of Meckel syndrome with a novel homozygous TXNDC15 variant in a non‐consanguineous Chinese family	14
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Autism spectrum disorder profiles in RASopathies: A systematic review	14
Three de novo variants in KMT2A (MLL) identified by whole exome sequencing in patients with Wiedemann–Steiner syndrome	13
Newborn Screening for Isovaleric Acidemia: Treatment With Pivalate‐Generating Antibiotics Contributed to False C5‐Carnitine Positivity in a Chinese Population	13
Two novel presentations of KCNMA1‐related pathology––Expanding the clinical phenotype of a rare channelopathy	13
Ten‐year follow‐up of Nicolaides–Baraitser syndrome with a de novo mutation and analysis of 58 gene loci of SMARCA2‐associated NCBRS	13
Clinical findings from the landmark MEF2C‐related disorders natural history study	13
Issue Information	13
Loss‐of‐Function CARS1 Variants in a Patient With Microcephaly, Developmental Delay, and a Brittle Hair Phenotype	13
Exome sequencing and RNA analysis identify two novel CPLANE1 variants causing Joubert syndrome	12
A Novel Biallelic Variant in IHH Causing Acrocapitofemoral Dysplasia in a Pakistani Family	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
Diagnosis and treatment of MN1 C‐terminal truncation syndrome	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
Congenital adrenal hyperplasia due to two rare CYP21A2 variant alleles, including a novel attenuated CYP21A1P/CYP21A2 chimera	11
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Adults with lysosomal storage diseases in the undiagnosed diseases network	11
Knowledge, Attitudes, and Practices of the General Population Regarding Peripheral Blood Chromosomal Testing in the Premarital or Preconception Context	11
Genetic mutations in ribosomal biogenesis gene TCOF1 identified in human neural tube defects	11
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Sequential application of copy number variation sequencing and quantitative fluorescence polymerase chain reaction in genetic analysis of miscarriage and stillbirth	11
Genetic of preimplantation diagnosis of dysmorphic facial features and intellectual developmental disorder (CHDFIDD) without congenital heart defects	11
Hyaline fibromatosis syndrome with a novel 4.41‐kb deletion in ANTXR2 gene: A case report and literature review	11
A monoallelic variant in EYA1 is associated with Branchio‐Otic syndrome in a Malian family	11
Detection of pericentric inversion with breakpoint in DMD by whole genome sequencing	11
Characterization of a novel non‐canonical splice site variant (c.886‐5T>A) in NBAS and description of the associated phenotype	10
Promoter hypermethylation of RARB and GSTP1 genes in plasma cell‐free DNA as breast cancer biomarkers in Peruvian women	10
Identification of a novel heterozygous PTH1R variant in a Chinese family with incomplete penetrance	10
Social media use by patients with hypermobile Ehlers–Danlos syndrome	10
Systematic review on gene–sun exposure interactions in skin cancer	10
Compound heterozygous null mutations of NOBOX in sisters with delayed puberty and primary amenorrhea	10
Comprehensive characterization and building of National Registry of von Hippel–Lindau disease in Brazil	10
Further delineation of Wiedemann‐Rautenstrauch syndrome linked with POLR3A	10
The clinical, myopathological, and genetic analysis of 155 Chinese mitochondrial ophthalmoplegia patients with mitochondrial DNA single large deletions	10
Population‐based screening of Uruguayan Ashkenazi Jews for recurrent BRCA1 and BRCA2 pathogenic sequence variants	10
A novel heterozygous variant of FOXJ1 in a Chinese female with primary ciliary dyskinesia and hydrocephalus: A case report and literature review	10
A homozygous stop codon in HORMAD2 in a patient with recurrent digynic triploid miscarriage	10
Bedtime extended release cornstarch improves biochemical profile and sleep quality for patients with glycogen storage disease type Ia	10
Case report of a child with long QT syndrome type 14 caused by CALM1 gene mutation and literature review	10
A single heterozygous nonsense mutation in the TTC21B gene causes adult‐onset nephronophthisis 12: A case report and review of literature	10
Prenatal whole‐exome sequencing in fetuses with increased nuchal translucency	10
Correction to “In silico validation revealed the role of SCN5A mutations and their genotype–phenotype correlations in Brugada syndrome”	10
Contribution of uniparental disomy in a clinical trio exome cohort of 2675 patients	9
Frameshift Mutation in PAX2 Related to Focal Segmental Glomerular Sclerosis: A Case Report and Literature Review	9
Retraction: Population genetic analysis of Shaanxi male Han Chinese population reveals genetic differentiation and homogenization of East Asians	9
Mutated neuron navigator 3 as a candidate gene for a rare neurodevelopmental disorder	9
Congenital Hypotonia: Cracking a SAGA of consanguineous kindred harboring four genetic variants	9
Issue Information	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
Pyridoxine‐responsive KCNQ2 epileptic encephalopathy: Additional cases and literature review	9
Genetic diagnosis of Alport syndrome in 16 Chinese families	8
Comprehensive variant calling from whole‐genome sequencing identifies a complex inversion that disrupts ZFPM2 in familial congenital diaphragmatic hernia	8
Expanding the clinical spectrum of autosomal‐recessive renal tubular dysgenesis: Two siblings with neonatal survival and review of the literature	8
Association of MMP1 and MMP3 haplotypes with myocardial infarction and echocardiographic parameters of the left ventricle	8
Mutations obstructing ATP's emplacement in KIF2A nucleotide‐binding pocket causes parenchymal malformations, motor developmental delay, with intellectual disability	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
The significance of the fusion partner gene genomic neighborhood analysis in translocation‐defined tumors	8
Deep Sequencing and Phenotyping in an Australian Tuberous Sclerosis Complex “No Mutations Identified” Cohort	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 phenotype of Wolf–Hirschhorn syndrome: A case series and literature review	8
Genetic analysis and outcomes of Omani children with steroid‐resistant nephrotic syndrome	8
Management of methylmalonic acidemia (MMA) with N‐carbamylglutamate: A case report from Italy	8
HINT1 founder mutation causing axonal neuropathy with neuromyotonia in South America: A case report	8
Clinicopathological and genetic study of a rare occurrence: Malignant transformation of fibrous dysplasia of the jaws	8
Distribution of vitamin D‐binding protein/group‐specific component gene subtypes in Kuwaiti population	8

Retraction: Population genetics of 24 Y‐STR loci in Chinese Han population from Jilin Province, Northeast China	8
Studying carrier frequency of spinal muscular atrophy in the State of Qatar and comparison to other ethnic groups: Pilot study	8
A somatic splice‐site variant in PIK3R1 in a patient with vascular overgrowth and low immunoglobulin levels: A case report	8
Estimate of genetic variants using CNV‐Seq for fetuses with oligohydramnios or polyhydramnios	8
A novel UBAP1 truncated variant in a Chinese family with hereditary spastic paraplegia	7
The effect of a single SMARCA4 exon deletion on RNA splicing: Implications for variant classification	7
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First‐time application of droplet digital PCR for methylation testing of the 11p15.5 imprinting regions	7
Issue Information	7
Targeted gene sequencing of FYCO1 identified a novel mutation in a Pakistani family for autosomal recessive congenital cataract	7
Novel mutations of PMFBP1 in a man with acephalic spermatozoa defects	7
Clinical and ocular abnormalities in DEGCAGS syndrome—Developmental delay with gastrointestinal, cardiovascular, genitourinary, and skeletal abnormalities	7
De novo DYNC1H1 mutation causes infantile developmental and epileptic encephalopathy with brain malformations	7
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Detection of mobile elements insertions for routine clinical diagnostics in targeted sequencing data	7
The role of vitamin D receptor and IL‐6 in COVID‐19	7
Analysis of the clinical and genetic characteristics of a Chinese family with osteogenesis imperfecta type I	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
Identification of variants in ACAN and PAPSS2 leading to spondyloepi(meta)physeal dysplasias in four Chinese families	7
Prenatal diagnosis of combined methylmalonic acidemia and homocystinuria cobalamin C type using clinical exome sequencing and targeted gene analysis	7
Screening of Inherited Retinal Disease Patients in a Low‐Resource Setting Using an Augmented Next‐Generation Sequencing Panel	7
11q13.3q13.4 deletion plus 9q21.13q21.33 duplication in an affected girl arising from a familial four‐way balanced chromosomal translocation	7
Report of rare and novel mutations in candidate genes in a cohort of hearing‐impaired patients	7
Exome sequencing findings in children with annular pancreas	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
Expanding the mutational spectrum of ZTTK syndrome: A de novo variant with global developmental delay and malnutrition in a Chinese patient	7
Identification of rare missense variants in the BSN gene co‐segregating with chronic otitis media in a consanguineous Pakistani family	7
Electronic Patient Portals as a Modality for Returning Reclassified Genetic Test Results	7
Evaluation of optical genome mapping for detecting chromosomal translocation in clinical cytogenetics	7
Retraction: Genetic polymorphism and phylogenetic analyses of 21 non‐CODIS STR loci in a Chinese Han population from Shanghai	7
A novel unbalanced translocation between chromosomes 5p and 18q leading to dysmorphology and global developmental delay	7
Association of NQO1 levels and its genetic polymorphism with susceptibility to methamphetamine dependence	7
Compound heterozygous KCNV2 variants contribute to cone dystrophy with supernormal rod responses in a Chinese family	6
New Insight into the human genetic diversity in North African populations by genotyping of SNPs in DRD3, CSMD1 and NRG1 genes	6
A novel missense variant in OTUD5 causes X‐linked multiple congenital anomalies‐neurodevelopmental syndrome	6
Psychological Distress and Quality of Life in Families With a Germline CDKN2A Pathogenic Variant	6
A new patient with congenital myasthenic syndrome type 20 due to compound heterozygous missense SLC5A7 variants suggests trends in genotype–phenotype correlation	6
Identification of De Novo Chromosomal Translocations Disrupting NIPBL in a Patient With Cornelia de Lange Syndrome by Full Genome Analysis	6
CircFOXM1 acts as a ceRNA to upregulate SMAD2 and promote the progression of nasopharyngeal carcinoma	6
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Early cardiomyopathy without severe metabolic dysregulation in a patient with cblB‐type methylmalonic acidemia	6
Novel insight into FCSK‐congenital disorder of glycosylation through a CRISPR‐generated cell model	6
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	6
ABCG2 polymorphisms and susceptibility to ARV‐associated hepatotoxicity	6
Novel IRF6 variant in orofacial cleft patients from Durban, South Africa	6
Barriers and Facilitators to Participation in Clinical Trials Related to Familial Frontotemporal Dementia: A Qualitative Study	6
A novel heterozygous ATP1A2 pathogenic variant in a Chinese child with MELAS‐like alternating hemiplegia	6
Identifying patients with EVEN‐plus syndrome using exome sequencing and clinical feature analysis: A case report	6
Two novel AMHR2 gene variants in monozygotic twins with persistent Müllerian duct syndrome: A case report and functional study	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 a novel TSC1 gene variant in a patient with atypical vitiligo‐like skin lesions: Unveiling the hidden tuberous sclerosis complex	6
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Massively parallel sequencing uncovered disease‐associated variant spectra of glucose‐6‐phosphate dehydrogenase deficiency, phenylketonuria and galactosemia in Vietnamese pregnant women	6
Identification of Pathogenic Copy Number Variants in Mexican Patients With Inherited Retinal Dystrophies Applying an Exome Sequencing Data‐Based Read‐Depth Approach	6
A novel splicing mutation in 5'UTR of GJB1 causes X‐linked Charcot—Marie–tooth disease	6
Chinese familial central precocious puberty with hyperuricemia due to recurrent DLK1 mutation: Case report and review of the literature	6
Identifying a Novel Causal FAM83H Variant for Autosomal Dominant Amelogenesis Imperfecta Using Exome‐Sequencing	6
Case report: Compound heterozygous nonsense PCDH15 variant and a novel deep‐intronic variant in a Chinese child with profound hearing loss	5
Issue Information	5
Noonan syndrome: rhGH treatment and PTPN11 mutation	5
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Clinical study and genetic analysis of Cornelia de Lange syndrome caused by a novel MAU2 gene variant in a Chinese boy	5
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Assessing population substructure in the Lebanese population: A population study using data on 23 autosomal short tandem repeats	5
Genetic and functional analyses detect an EXT1 splicing pathogenic variant in a Chinese hereditary multiple exostosis (HME) family	5
Prevalence of Constitutional Pathogenic Variant in a Cohort of 348 Patients With Multiple Primary Cancer Addressed in Oncogenetic Consultation	5
Long‐read Oxford nanopore sequencing reveals a de novo case of complex chromosomal rearrangement involving chromosomes 2, 7, and 13	5
Issue Information	5
Identification of a novel LMX1B nonsense variant associated with congenital talipes equinovarus by prenatal exome sequencing: A case report	5
Clinical and molecular characterization of five Chinese patients with autosomal recessive osteopetrosis	5
Decreased expression of autophagy‐related genes in the complete remission phase of acute myeloid leukemia	5
A new genetic diagnosis strategy for paroxysmal kinesigenic dyskinesia: Targeted high‐throughput detection of PRRT2 gene c.649 locus	5
Quality of life in children with Down syndrome and its association with parent and child demographic characteristics: Parent‐reported measures	5
Whole exome sequencing identified a novel compound heterozygous variation in COL7A1 gene causing dystrophic epidermolysis bullosa	5
Prenatal diagnosis and preimplantation genetics testing of 3M syndrome in a Chinese family with novel biallelic variants of CUL7	5
Developmental and epileptic encephalopathy related to a heterozygous variant of the RHOBTB2 gene: A case report from French Guiana	5
Identification of a novel COL7A1 variant associated with dystrophic epidermolysis bullosa pruriginosa responding effectively to dupilumab	5
APOL1 polymorphisms are not influencing acute coronary syndrome risk in Czech males	5
Issue Information	5

Haplotype‐dependent HLA‐DRB1‐DQB1 susceptibility to occult HBV infection in Xi'an Han population	5
The first glycine‐to‐tryptophan substitution in the COL1A1 gene identified in a patient with progressively‐deforming Osteogenesis imperfecta	5
Issue Information	5
Rapid Whole Genome Sequencing Uncovers a Triple Diagnosis: X‐Linked Chondrodysplasia Punctata, MECP2‐Related Disorder, and Mosaic Jacobs Syndrome	5
Detection of TSC1/TSC2 mosaic variants in patients with cardiac rhabdomyoma and tuberous sclerosis complex by hybrid‐capture next‐generation sequencing	5
Identification of genetic characteristics in pediatric epilepsy with focal cortical dysplasia type 2 using deep whole‐exome sequencing	5
Hereditary breast cancer next‐generation sequencing panel evaluation in the south region of Brazil: A novel BRCA2 candidate pathogenic variant is reported	5
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The clinical utility of a risk‐modifying SNP to detect carriers for spinal muscular atrophy with increased sensitivity	5
Hope, but never expect? Comparing parents' pre‐ and post‐disclosure attitudes toward return of results from diagnostic exome sequencing for their child	5
Germline mutations in pediatric cancer cohort with mixed‐ancestry Mexicans	5
Issue Information	5
Utility of whole‐exome sequencing for patients with multiple congenital anomalies with or without intellectual disability/developmental delay in East Asia population	5
A novel splice‐site mutation in CHMP2B associated with frontotemporal dementia: The first report from China and literature review	5
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Atypical mandibulofacial dysostosis with microcephaly diagnosed through the identification of a novel pathogenic mutation in EFTUD2	5
A new line method; A direct test in spinal muscular atrophy screening for DBS	5
Heritability and genome‐wide association study of blood pressure in Chinese adult twins	5
NAT2 and CYP2E1 polymorphisms and antituberculosis drug‐induced hepatotoxicity in Peruvian patients	5
Two Nonsense GLI3 Variants Are Identified in Two Chinese Families With Polydactyly	5
Mutation spectrum of hearing loss patients in Northwest China: Identification of 20 novel variants	5
Mutation spectrum of non‐syndromic hearing loss in the UAE, a retrospective cohort study and literature review	5
Asymptomatic ASS1 carriers with high blood citrulline levels	5
Next‐generation sequencing in identification of pathogenic variants in primary hyperoxaluria among 21 Egyptian families: Identification of two novel AGXT gene mutations	5
Rapid high‐resolution melting method to identify human leukocyte antigen‐G (HLA‐G) 3′ untranslated region polymorphism +3142C/G (rs1063320)	5
Issue Information	5
Diagnosis of Arboleda‐Tham syndrome by whole‐exome sequencing in an Asian girl with severe developmental delay	5
Atypical phenotype of a patient with Bardet–Biedl syndrome type 4	5
A De Novo Frameshift Variant in SMC1A Causes Non‐Classic Cornelia de Lange Syndrome With Epilepsy: A Case Report and Literature Review	4
Allelic and genotypic frequencies of NAT2, CYP2E1, and AADAC genes in a cohort of Peruvian tuberculosis patients	4
Congenital cataract: An ocular manifestation of classical homocystinuria	4
Identification of potential molecular mechanism related to craniofacial dysmorphism caused by FOXI3 deficiency	4
Correction to “Analysis of the clinical and genetic characteristics of a Chinese family with osteogenesis imperfecta type I”	4
Approaches to Evaluate Whole Exome Sequencing Data That Incorporate Genetic Intolerance Scores for Congenital Anomalies, Including Intronic Regions Adjacent to Exons	4
Systematic analysis of the causes of NIPS sex chromosome aneuploidy false‐positive results	4
Novel compound heterozygous mutations of the FBP1 gene in a patient with hypoglycemia and lactic acidosis: A case report	4
Gene polymorphisms of cyclin‐dependent kinase inhibitor and matrix metalloproteinase‐9 in Sudanese patients with esophageal squamous cell carcinoma	4
Mutation spectrum of retinoblastoma patients in Vietnam	4
Imputed expression of schizophrenia‐associated genes and cognitive measures in patients with schizophrenia	4
A new phenotype of EVEN‐PLUS syndrome in a Chinese family and literature review	4
Current status of beta‐thalassemia and its treatment strategies	4
Issue Information	4
Prevalence and clinical implications of germline mutations among Jordanian patients with ovarian cancer. The Jordanian exploratory cancer genetics (Jo‐ECAG) ovarian study	4
Novel biallelic mutations in TTC29 cause asthenoteratospermia and male infertility	4
The current benefit of genome sequencing compared to exome sequencing in patients with developmental or epileptic encephalopathies	4
Reporting a Homozygous Case of Neurodevelopmental Disorder Associated With a Novel PRPF8 Variant	4
Clinical characteristics of a case of multiple mitochondrial dysfunction syndrome 3	4
Novel homozygous nonsynonymous variant of CNNM4 gene in a Chinese family with Jalili syndrome	4
Mutations in exon region of BRCA1‐related RING domain 1 gene and risk of breast cancer	4
Case report of the first molecular diagnosis of Stickler syndrome with a pathogenic COL2A1 variant in a Mongolia family	4
KBG syndrome: Clinical features and molecular findings in seven unrelated Korean families with a review of the literature	4
Issue Information	4
Congenital disorder of glycosylation with defective fucosylation 2 (FCSK gene defect): The third report in the literature with a mild phenotype	4
Novel De Novo Intronic Variant of SYNGAP1 Associated With the Neurodevelopmental Disorders	4
Allele‐specific long‐range sequencing as a method for ABO haplotyping in clinical blood group diagnosis and immunohematology research	4
A novel CLCNKB variant in a Chinese family with classic Bartter syndrome and prenatal genetic diagnosis	4
Autosomal recessive nonsyndromic hearing impairment in two Finnish families due to the population enriched CABP2 c.637+1G>T variant	4
Association of family sequence similarity gene 13A gene polymorphism and interstitial lung disease susceptibility: A systematic review and meta‐analysis	4
A new syndromic case of hearing loss and ectodermal anomalies associated with a recurrent missense variation in GJB6 gene	4
New insights from trio whole‐exome sequencing in the children with kidney disease: A single‐center retrospective cohort study	4
Identification of a de novo variant in the ASXL2 gene related to Shashi‐Pena syndrome	4
SRY+ Derivative X Chromosome in a Female With Apparently Typical Sexual Development	4
Genome sequencing reveals novel noncoding variants in PLA2G6 and LMNB1 causing progressive neurologic disease	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
The Functions and Implications of MicroRNAs in Premature Ovarian Insufficiency	4
Clinical approach for managing patients with unexpected CDH1 mutations: A case report	4
New pathogenic variants in ARMC5 gene in a series of Italian patients affected by primary bilateral macronodular adrenocortical hyperplasia (PBMAH)	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
Issue Information	4
Whole exome sequencing reveals several novel variants in congenital disorders of glycosylation and glycogen storage diseases in seven patients from Iran	4
Whole‐genome sequencing revealed a novel long‐range deletion mutation spanning GNAS in familial pseudohypoparathyroidism	4
Multicolor melting curve analysis discloses high carrier frequency of hearing loss‐associated variants among neonates in Jiangsu province	4
A novel splicing variant of VCAN identified in a Chinese family initially diagnosed with familial exudative vitreoretinopathy	4
Issue Information	4
Targeted copy number variant identification across the neurodegenerative disease spectrum	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
Defective C3d caused by C3 p.W1034R in inherited atypical hemolytic uremic syndrome	4
A rare case of dysferlinopathy with paternal isodisomy for chromosome 2 determined by exome sequencing	4
Targeted nanopore sequencing enables complete characterisation of structural deletions initially identified using exon‐based short‐read sequencing strategies	4
Spinal muscular atrophy carrier frequency in Saudi Arabia	4
A case of Fibrodysplasia Ossificans Progressiva associated with a novel variant of theACVR1gene	4
Clinical report and genetic analysis of rare premature infant nephronophthisis caused by biallelic TTC21B variants	4
Whole‐exome sequencing facilitates the differential diagnosis of Ehlers–Danlos syndrome (EDS)	3
Rapid and long‐lasting efficacy of high‐dose ambroxol therapy for neuronopathic Gaucher disease: A case report and literature review	3
Mutations in CFAP47, a previously reported MMAF causative gene, also contribute to the respiratory defects in patients with PCD	3
Identification of novel pathogenic variants of CUBN in patients with isolated proteinuria	3
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
Saliva Sample‐Based Non‐Invasive Carrier Screening for Spinal Muscular Atrophy, Hereditary Hearing Loss, and Thalassemia in 13,926 Women of Reproductive Age From South Zhejiang	3
A novel frameshift mutation in SOX10 gene induced Waardenburg syndrome type II	3
Phenotype and genotype spectrum of variants in guanine nucleotide exchange factor genes in a broad cohort of Iranian patients	3
A case of inherited glycosylphosphatidylinositol deficiency caused by PGAP3 variant with uniparental isodisomy on chromosome 17	3
Genetic Manifestations and Phenotype Spectrum in Infants With Feeding Difficulty	3
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Brainstem dominant form of X‐linked adrenoleukodystrophy with a novel ABCD1 missense variant: A case report and literature review	3
Founder genetic variants of ABCC4 and ABCC11 in the Japanese population are not associated with the development of subacute myelo‐optico‐neuropathy (SMON)	3