Molecular Genetics & Genomic Medicine

Article	Citations
Autism spectrum disorder profiles in RASopathies: A systematic review	26
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Diagnosis and treatment of MN1 C‐terminal truncation syndrome	22
Development of a Tagmentation‐Based Next‐Generation Sequencing Clinical Assay as an Alternative to Capillary Electrophoresis‐Based Sequencing	18
Newborn Screening for Isovaleric Acidemia: Treatment With Pivalate‐Generating Antibiotics Contributed to False C5‐Carnitine Positivity in a Chinese Population	17
Congenital adrenal hyperplasia due to two rare CYP21A2 variant alleles, including a novel attenuated CYP21A1P/CYP21A2 chimera	16
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Genetic mutations in ribosomal biogenesis gene TCOF1 identified in human neural tube defects	15
Recurrent human 16p11.2 microdeletions in type I Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome patients in Chinese Han population	15
Knowledge, Attitudes, and Practices of the General Population Regarding Peripheral Blood Chromosomal Testing in the Premarital or Preconception Context	15
First preimplantation genetic testing case of Meckel syndrome with a novel homozygous TXNDC15 variant in a non‐consanguineous Chinese family	14
Not just a carrier: Clinical presentation and management of patients with heterozygous disease‐causing alkaline phosphatase (ALPL) variants identified through expanded carrier screening	14
Prenatal Exome Diagnostic Yield, Syndromic Landscape and Secondary Findings	14
Sequential application of copy number variation sequencing and quantitative fluorescence polymerase chain reaction in genetic analysis of miscarriage and stillbirth	14
A Novel Biallelic Variant in IHH Causing Acrocapitofemoral Dysplasia in a Pakistani Family	14
Loss‐of‐Function CARS1 Variants in a Patient With Microcephaly, Developmental Delay, and a Brittle Hair Phenotype	14
Exome sequencing‐aided precise diagnosis of four families with type I Stickler syndrome	14
Prenatal whole‐exome sequencing in fetuses with increased nuchal translucency	13
COPA syndrome caused by a novel p.Arg227Cys COPA gene variant	13
Mutated neuron navigator 3 as a candidate gene for a rare neurodevelopmental disorder	13
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	13
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Case report of a child with long QT syndrome type 14 caused by CALM1 gene mutation and literature review	12
A homozygous stop codon in HORMAD2 in a patient with recurrent digynic triploid miscarriage	12
Identification of a novel heterozygous PTH1R variant in a Chinese family with incomplete penetrance	12

Genotype–Phenotype Correlations in Klinefelter and Turner Syndrome: A Decade of Sex Chromosome Aneuploidy Data From a Single Academic Medical Center	12
The clinical, myopathological, and genetic analysis of 155 Chinese mitochondrial ophthalmoplegia patients with mitochondrial DNA single large deletions	12
Social media use by patients with hypermobile Ehlers–Danlos syndrome	11
Further delineation of Wiedemann‐Rautenstrauch syndrome linked with POLR3A	11
Characterization of a novel non‐canonical splice site variant (c.886‐5T>A) in NBAS and description of the associated phenotype	11
Detection of pericentric inversion with breakpoint in DMD by whole genome sequencing	11
Novel Compound Heterozygous Variants in the TCTN2 Gene Causing Meckel–Gruber Syndrome 8 in a Non‐C	11
A single heterozygous nonsense mutation in the TTC21B gene causes adult‐onset nephronophthisis 12: A case report and review of literature	11
Comprehensive characterization and building of National Registry of von Hippel–Lindau disease in Brazil	11
Correction to “In silico validation revealed the role of SCN5A mutations and their genotype–phenotype correlations in Brugada syndrome”	11
Promoter hypermethylation of RARB and GSTP1 genes in plasma cell‐free DNA as breast cancer biomarkers in Peruvian women	11
A novel heterozygous variant of FOXJ1 in a Chinese female with primary ciliary dyskinesia and hydrocephalus: A case report and literature review	11
COQ2‐Associated Primary Coenzyme Q10 Deficiency Presenting With Proteinuria: A Case Report and Literature Review	10
Frameshift Mutation in PAX2 Related to Focal Segmental Glomerular Sclerosis: A Case Report and Literature Review	10
RETRACTION : Lnc‐ GIHCG Promotes Cell Proliferation and Migration in Gastric Cancer through m	10
Systematic review on gene–sun exposure interactions in skin cancer	10
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Bedtime extended release cornstarch improves biochemical profile and sleep quality for patients with glycogen storage disease type Ia	10
Genetic diagnosis of Alport syndrome in 16 Chinese families	9
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A somatic splice‐site variant in PIK3R1 in a patient with vascular overgrowth and low immunoglobulin levels: A case report	9
Mutations obstructing ATP's emplacement in KIF2A nucleotide‐binding pocket causes parenchymal malformations, motor developmental delay, with intellectual disability	9
Clinical report and genetic analysis of a Chinese patient with developmental and epileptic encephalopathy associated with novel biallelic variants in the ST3GAL3 gene	9
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Identification of rare missense variants in the BSN gene co‐segregating with chronic otitis media in a consanguineous Pakistani family	9
Expanding the genetic spectrum for Chinese familial hypercholesterolemia population with six genetic mutations identified using a next‐generation sequencing‐based laboratory‐developed screening test	9
Studying carrier frequency of spinal muscular atrophy in the State of Qatar and comparison to other ethnic groups: Pilot study	9
11q13.3q13.4 deletion plus 9q21.13q21.33 duplication in an affected girl arising from a familial four‐way balanced chromosomal translocation	8
Clinical Features and PLCZ1 Gene Variants in Two Cases of Male Infertility: A Case Series and Lite	8
Prenatal phenotype of Wolf–Hirschhorn syndrome: A case series and literature review	8
Retraction: Population genetic analysis of Shaanxi male Han Chinese population reveals genetic differentiation and homogenization of East Asians	8
A Novel Intronic Variant Causes Aberrant Splicing of PCDH15 in a Family With Usher Syndrome Type 1F	8
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Correction to “Identification and Functional Analysis of a Novel NSD2 Missense Variant in a Patien	8
A Prenatal Ultrasound Study of Cerebral Cortical Sulci and Gyri Development in Fetuses With Overgrowth Syndrome and/or Cerebral Malformations due to Abnormalities in MTOR Pathway Genes	8
De Novo HNRNPU Pathogenic Variant Related to Developmental Epileptic Encephalopathy With Inherited KANSL1 Loss‐of‐Function Variant Resolved by RNA Analys	8
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The effect of a single SMARCA4 exon deletion on RNA splicing: Implications for variant classification	8
Deep Sequencing and Phenotyping in an Australian Tuberous Sclerosis Complex “No Mutations Identified” Cohort	8
Screening of Inherited Retinal Disease Patients in a Low‐Resource Setting Using an Augmented Next‐Generation Sequencing Panel	8
Severe Renal Phenotype Across A Multigenerational Tuberous Sclerosis Complex ( TSC ) Family	8
Management of methylmalonic acidemia (MMA) with N‐carbamylglutamate: A case report from Italy	8
Electronic Patient Portals as a Modality for Returning Reclassified Genetic Test Results	8
Expanding the mutational spectrum of ZTTK syndrome: A de novo variant with global developmental delay and malnutrition in a Chinese patient	8
Clinical and ocular abnormalities in DEGCAGS syndrome—Developmental delay with gastrointestinal, cardiovascular, genitourinary, and skeletal abnormalities	8
X‐Linked Intellectual Developmental Disorder‐93 Caused by BRWD3 Mutation in Females: A Case Report and Literature Review	8
Genetic analysis and outcomes of Omani children with steroid‐resistant nephrotic syndrome	8
Pathogenicity of the LDLR c.97C>T (p.Gln33Ter) Mutation in Familial Hypercholesterolemia	8
Retraction: Forensic features and genetic background exploration of a new 47‐autosomal InDel panel in five representative Han populations residing in Northern China	8
Association of MMP1 and MMP3 haplotypes with myocardial infarction and echocardiographic parameters of the left ventricle	8

Estimate of genetic variants using CNV‐Seq for fetuses with oligohydramnios or polyhydramnios	8
Retraction: Population genetics of 24 Y‐STR loci in Chinese Han population from Jilin Province, Northeast China	8
A Novel A‐Kinase‐Anchoring Protein 9 Variant in Premature Coronary Artery Disease: A Case Series	8
Association Between KLF1, BCL11A and HBS1L‐MYB Polymorphisms and Phenotypes With β‐Thalassemia Patients in Hainan	8
Retraction: Genetic diversity and phylogenetic structure of four Tibeto‐Burman‐speaking populations in Tibetan‐Yi corridor revealed by insertion/deletion polymorphisms	7
Molecular Analysis of the HGD Gene in 9 Families With Alkaptonuric Ochronosis in Iran and Identification of Two Novel Variants	7
Novel insight into FCSK‐congenital disorder of glycosylation through a CRISPR‐generated cell model	7
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The Utility of Whole Exome Sequencing in Fetuses With Isolated Increased Nuchal Translucency	7
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ABCG2 polymorphisms and susceptibility to ARV‐associated hepatotoxicity	7
Identification of a novel TSC1 gene variant in a patient with atypical vitiligo‐like skin lesions: Unveiling the hidden tuberous sclerosis complex	7
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Retraction: Genetic polymorphism and phylogenetic analyses of 21 non‐CODIS STR loci in a Chinese Han population from Shanghai	7
Exome sequencing findings in children with annular pancreas	7
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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	7
A novel missense variant in OTUD5 causes X‐linked multiple congenital anomalies‐neurodevelopmental syndrome	7
The role of vitamin D receptor and IL‐6 in COVID‐19	7
First‐time application of droplet digital PCR for methylation testing of the 11p15.5 imprinting regions	7
A new patient with congenital myasthenic syndrome type 20 due to compound heterozygous missense SLC5A7 variants suggests trends in genotype–phenotype correlation	7
A novel splicing mutation in 5'UTR of GJB1 causes X‐linked Charcot—Marie–tooth disease	6
Identification of a novel COL7A1 variant associated with dystrophic epidermolysis bullosa pruriginosa responding effectively to dupilumab	6
A new genetic diagnosis strategy for paroxysmal kinesigenic dyskinesia: Targeted high‐throughput detection of PRRT2 gene c.649 locus	6
Identification of De Novo Chromosomal Translocations Disrupting NIPBL in a Patient With Cornelia de Lange Syndrome by Full Genome Analysis	6
46,XY/46,XY Chimerism: Prenatal Presentation and Postnatal Outcome	6
Clinical study and genetic analysis of Cornelia de Lange syndrome caused by a novel MAU2 gene variant in a Chinese boy	6
Identifying a Novel Causal FAM83H Variant for Autosomal Dominant Amelogenesis Imperfecta Using Exome‐Sequencing	6
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Psychological Distress and Quality of Life in Families With a Germline CDKN2A Pathogenic Variant	6
A novel splice‐site mutation in CHMP2B associated with frontotemporal dementia: The first report from China and literature review	6
Prenatal diagnosis and preimplantation genetics testing of 3M syndrome in a Chinese family with novel biallelic variants of CUL7	6
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Mutation spectrum of non‐syndromic hearing loss in the UAE, a retrospective cohort study and literature review	6
Hope, but never expect? Comparing parents' pre‐ and post‐disclosure attitudes toward return of results from diagnostic exome sequencing for their child	6
Accelerated Identification and Preliminary Validation of a Pathogenic Missense Variant in the L1CAM	6
A novel heterozygous ATP1A2 pathogenic variant in a Chinese child with MELAS‐like alternating hemiplegia	6
Prenatally Diagnosed 7q11.23 Copy Number Variations: A Retrospective Case Series	6
Germline mutations in pediatric cancer cohort with mixed‐ancestry Mexicans	6
Diagnosis of Arboleda‐Tham syndrome by whole‐exome sequencing in an Asian girl with severe developmental delay	6
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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
Utility of whole‐exome sequencing for patients with multiple congenital anomalies with or without intellectual disability/developmental delay in East Asia population	6
Novel IRF6 variant in orofacial cleft patients from Durban, South Africa	6
Identification of genetic characteristics in pediatric epilepsy with focal cortical dysplasia type 2 using deep whole‐exome sequencing	6
Pathogenic Variants and Olipudase Alfa Treatment of Patients With Acid Sphingomyelinase Deficiency in Taiwan	6
Quality of life in children with Down syndrome and its association with parent and child demographic characteristics: Parent‐reported measures	6
Chinese familial central precocious puberty with hyperuricemia due to recurrent DLK1 mutation: Case report and review of the literature	6
Two Nonsense GLI3 Variants Are Identified in Two Chinese Families With Polydactyly	6
Case report: Compound heterozygous nonsense PCDH15 variant and a novel deep‐intronic variant in a Chinese child with profound hearing loss	6
RETRACTION : LncRNA NEAT1 /mir‐185‐5p/igf2 Axis Regulates the Invasion and Migration of Colon Cancer	6
Noonan syndrome: rhGH treatment and PTPN11 mutation	6
Identifying patients with EVEN‐plus syndrome using exome sequencing and clinical feature analysis: A case report	6
APOL1 polymorphisms are not influencing acute coronary syndrome risk in Czech males	6
Barriers and Facilitators to Participation in Clinical Trials Related to Familial Frontotemporal Dementia: A Qualitative Study	6
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Clinical Features and Treatment Strategies of Li‐Fraumeni Syndrome Patients With Inherited TP53 Mutations	6
Atypical mandibulofacial dysostosis with microcephaly diagnosed through the identification of a novel pathogenic mutation in EFTUD2	6
Congenital disorder of glycosylation with defective fucosylation 2 (FCSK gene defect): The third report in the literature with a mild phenotype	5
Whole exome sequencing reveals several novel variants in congenital disorders of glycosylation and glycogen storage diseases in seven patients from Iran	5
ABCA4 ‐Associated Retinal Degeneration in 8 Families From the Three Provinces of Northeast China: Identification and C	5
Association of family sequence similarity gene 13A gene polymorphism and interstitial lung disease susceptibility: A systematic review and meta‐analysis	5
GPIHBP1 Autoantibody‐Related Hypertriglyceridemia in Children: A Report of Two Cases and a Review of Pediatric Cases From the Literature	5
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A new phenotype of EVEN‐PLUS syndrome in a Chinese family and literature review	5
The clinical value of optical genome mapping in the rapid characterization of RB1 duplication and 15q23q24.2 triplication, for more appropriate prenatal genetic counselling	5
Early onset horizontal gaze palsy and progressive scoliosis due to a noncanonical splicing‐site variant and a missense variant in the ROBO3 gene	5
Identification of a de novo variant in the ASXL2 gene related to Shashi‐Pena syndrome	5
The current benefit of genome sequencing compared to exome sequencing in patients with developmental or epileptic encephalopathies	5
Assessing population substructure in the Lebanese population: A population study using data on 23 autosomal short tandem repeats	5
Gene polymorphisms of cyclin‐dependent kinase inhibitor and matrix metalloproteinase‐9 in Sudanese patients with esophageal squamous cell carcinoma	5
Rare Biallelic CTU2 Variants in an Individual With CAKUT	5
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Rapid Whole Genome Sequencing Uncovers a Triple Diagnosis: X‐Linked Chondrodysplasia Punctata, MECP2‐Related Disorder, and Mosaic Jacobs Syndrome	5
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A novel CLCNKB variant in a Chinese family with classic Bartter syndrome and prenatal genetic diagnosis	5
Individualised human phenotype ontology gene panels improve clinical whole exome and genome sequencing analytical efficacy in a cohort of developmental and epileptic encephalopathies	5

A novel splicing variant of VCAN identified in a Chinese family initially diagnosed with familial exudative vitreoretinopathy	5
Clinical report and genetic analysis of rare premature infant nephronophthisis caused by biallelic TTC21B variants	5
Novel De Novo Intronic Variant of SYNGAP1 Associated With the Neurodevelopmental Disorders	5
Clinical and Genetic Analysis of SMARCC2 ‐Related Diseases in Three Chinese Patients	5
Haplotype‐dependent HLA‐DRB1‐DQB1 susceptibility to occult HBV infection in Xi'an Han population	5
Clinical approach for managing patients with unexpected CDH1 mutations: A case report	5
Prevalence of Constitutional Pathogenic Variant in a Cohort of 348 Patients With Multiple Primary Cancer Addressed in Oncogenetic Consultation	5
Mutation spectrum of hearing loss patients in Northwest China: Identification of 20 novel variants	5
Identification of a novel LMX1B nonsense variant associated with congenital talipes equinovarus by prenatal exome sequencing: A case report	5
A new line method; A direct test in spinal muscular atrophy screening for DBS	5
Hereditary breast cancer next‐generation sequencing panel evaluation in the south region of Brazil: A novel BRCA2 candidate pathogenic variant is reported	5
Identification of potential molecular mechanism related to craniofacial dysmorphism caused by FOXI3 deficiency	5
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Clinical characteristics of a case of multiple mitochondrial dysfunction syndrome 3	5
Familial gigantiform cementoma with recurrent ANO5 p.Cys356Tyr mutations: Clinicopathological and genetic study with literature review	4
Correction to “Phenotypic and Genetic Characteristics of 24 Cases of Early Infantile Epileptic Encephalopathy in East China, Including a Rare Case of Biallelic UGDH	4
Correction to “Analysis of the clinical and genetic characteristics of a Chinese family with osteogenesis imperfecta type I”	4
Implementation of an Inherited Diseases Gene Panel to Accelerate Precision Medicine in the South African Public Healthcare System	4
A novel variant in the FLCN gene in a Chinese family with Birt–Hogg–Dubé syndrome	4
A De Novo Frameshift Variant in SMC1A Causes Non‐Classic Cornelia de Lange Syndrome With Epilepsy: A Case Report and Literature Review	4
Novel compound heterozygous mutations of the FBP1 gene in a patient with hypoglycemia and lactic acidosis: A case report	4
Clinical and genetic findings in Chinese families with congenital ectopia lentis	4
A new syndromic case of hearing loss and ectodermal anomalies associated with a recurrent missense variation in GJB6 gene	4
Clinical outcomes of fetuses with chromosome 16 short arm copy number variants	4
Prevalence and clinical implications of germline mutations among Jordanian patients with ovarian cancer. The Jordanian exploratory cancer genetics (Jo‐ECAG) ovarian study	4
Two novel pathogenic variants in the TCOF1 found in two Chinese cases of Treacher Collins syndrome	4
The Functions and Implications of MicroRNAs in Premature Ovarian Insufficiency	4
Targeted nanopore sequencing enables complete characterisation of structural deletions initially identified using exon‐based short‐read sequencing strategies	4
Unraveling CBS Mutations and Their Clinical Impact in a Chinese Family With Classical Homocystinuria	4
Spinal muscular atrophy carrier frequency in Saudi Arabia	4
Examining neurodevelopmental problems in 15q11.2 (BP1‐BP2) copy number variation carriers at ages 9/12 and 18 in a Swedish twin sample	4
Characterization of a germline variant MSH6 c.4001G > C in a Lynch syndrome family	4
Clinicopathological features of Lynch syndrome pedigrees with MSH2 c.351G>A gene variant	4
A rare case of dysferlinopathy with paternal isodisomy for chromosome 2 determined by exome sequencing	4
A Novel Intronic Mutation in MBD5 Results in Autosomal Dominant Intellectual Disability Type 1 due to Abnormal Splicing	4
Diagnosis of Menke‐Hennekam syndrome by prenatal whole exome sequencing and review of prenatal signs	4
Pharmacogenomic Calling From Whole‐Exome Sequencing in the Taiwanese Population—A Real‐World Experience	4
A De Novo Splicing Mutation of SRP72 in Bone Marrow Failure Syndrome Type 1: Case Report and Review of the Literature	4
Prenatal Diagnosis of Autosomal Recessive Primary Microcephaly Type 2 Caused by Compound Heterozygous WDR62	4
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A Maternal Loss‐of‐Function Variant in KHDC3L Gene Causes a Range of Adverse Pregnancy Outcomes: A Case Report	4
Whole‐genome sequencing revealed a novel long‐range deletion mutation spanning GNAS in familial pseudohypoparathyroidism	4
Unveiling the Genetic and Phenotypic Landscape of a Chinese Cohort With Retinitis Pigmentosa	4
SRY+ Derivative X Chromosome in a Female With Apparently Typical Sexual Development	4
A KCNQ4 Gene Variant (c.701A > G; p.His234Arg) in a Chinese Family With Nonsyndromic Deafness 2A	4
New pathogenic variants in ARMC5 gene in a series of Italian patients affected by primary bilateral macronodular adrenocortical hyperplasia (PBMAH)	4
Approaches to Evaluate Whole Exome Sequencing Data That Incorporate Genetic Intolerance Scores for Congenital Anomalies, Including Intronic Regions Adjacent to Exons	4
Mutation spectrum of retinoblastoma patients in Vietnam	4
Clinical details of individuals with Rauch–Steindl syndrome due to NSD2 truncating variants	4
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	4
New insights from trio whole‐exome sequencing in the children with kidney disease: A single‐center retrospective cohort study	4
Atypical Prader–Willi Syndrome Deletions: Insights Into the Complex Regulation and Phenotypic Variability	4
Correction to “Influence of the Sex of Translocation Carrier on Clinical Outcomes of Couples Undergoing Preimplantation Genetic Testing”	4
Evaluation of the clinical effects of non‐invasive prenatal screening for diseases associated with aneuploidy and copy number variation	4
Mutation profiling in South African patients with Cornelia de Lange syndrome phenotype	4
Genetic Insights Into Craniosynostosis: Identification of Novel IL11RA Variants in Chinese Pediatric Patients	4
Novel LAMA1 Mutations in a Pedigree With Poretti‐Boltshauser Syndrome: Implications for Hypomyelination	4
Maculopathy and adult‐onset ataxia in patients with biallelic MFSD8 variants	4
Reporting a Homozygous Case of Neurodevelopmental Disorder Associated With a Novel PRPF8 Variant	4
Novel biallelic mutations in TTC29 cause asthenoteratospermia and male infertility	4
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Defective C3d caused by C3 p.W1034R in inherited atypical hemolytic uremic syndrome	4
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Allele‐specific long‐range sequencing as a method for ABO haplotyping in clinical blood group diagnosis and immunohematology research	4
KBG syndrome: Clinical features and molecular findings in seven unrelated Korean families with a review of the literature	4
Multicolor melting curve analysis discloses high carrier frequency of hearing loss‐associated variants among neonates in Jiangsu province	4
Early‐onset diabetes mellitus as a presenting feature of Werner's syndrome in an Indian family	4
A compound heterozygote case of glutaric aciduria type II in a patient carrying a novel candidate variant in ETFDH gene: A case report and literature review on compound he	4
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Historical Control Analysis Demonstrates Greater Long‐Term Reduction in Plasma Globotriaosylceramide (Gb3) by Venglustat Compared With Placebo or Agalsidase Beta in Male Patients With Classic Fabry Di	4