Molecular Genetics & Genomic Medicine

Article	Citations
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Issue Information	20
Sequential application of copy number variation sequencing and quantitative fluorescence polymerase chain reaction in genetic analysis of miscarriage and stillbirth	18
Congenital adrenal hyperplasia due to two rare CYP21A2 variant alleles, including a novel attenuated CYP21A1P/CYP21A2 chimera	17
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
Issue Information	16
Autism spectrum disorder profiles in RASopathies: A systematic review	16
Diagnosis and treatment of MN1 C‐terminal truncation syndrome	15
Knowledge, Attitudes, and Practices of the General Population Regarding Peripheral Blood Chromosomal Testing in the Premarital or Preconception Context	14
Newborn Screening for Isovaleric Acidemia: Treatment With Pivalate‐Generating Antibiotics Contributed to False C5‐Carnitine Positivity in a Chinese Population	14
Ten‐year follow‐up of Nicolaides–Baraitser syndrome with a de novo mutation and analysis of 58 gene loci of SMARCA2‐associated NCBRS	14
Development of a Tagmentation‐Based Next‐Generation Sequencing Clinical Assay as an Alternative to Capillary Electrophoresis‐Based Sequencing	14
Loss‐of‐Function CARS1 Variants in a Patient With Microcephaly, Developmental Delay, and a Brittle Hair Phenotype	14
A Novel Biallelic Variant in IHH Causing Acrocapitofemoral Dysplasia in a Pakistani Family	14
COPA syndrome caused by a novel p.Arg227Cys COPA gene variant	13
Prenatal Exome Diagnostic Yield, Syndromic Landscape and Secondary Findings	13
Not just a carrier: Clinical presentation and management of patients with heterozygous disease‐causing alkaline phosphatase (ALPL) variants identified through expanded carrier screening	13
Hyaline fibromatosis syndrome with a novel 4.41‐kb deletion in ANTXR2 gene: A case report and literature review	13
Genetic mutations in ribosomal biogenesis gene TCOF1 identified in human neural tube defects	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	12
Mutated neuron navigator 3 as a candidate gene for a rare neurodevelopmental disorder	12
First preimplantation genetic testing case of Meckel syndrome with a novel homozygous TXNDC15 variant in a non‐consanguineous Chinese family	12
Recurrent human 16p11.2 microdeletions in type I Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome patients in Chinese Han population	12
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Exome sequencing‐aided precise diagnosis of four families with type I Stickler syndrome	12

Case report of a child with long QT syndrome type 14 caused by CALM1 gene mutation and literature review	12
Detection of pericentric inversion with breakpoint in DMD by whole genome sequencing	11
Further delineation of Wiedemann‐Rautenstrauch syndrome linked with POLR3A	11
A single heterozygous nonsense mutation in the TTC21B gene causes adult‐onset nephronophthisis 12: A case report and review of literature	11
Pyridoxine‐responsive KCNQ2 epileptic encephalopathy: Additional cases and literature review	11
Comprehensive characterization and building of National Registry of von Hippel–Lindau disease in Brazil	11
A monoallelic variant in EYA1 is associated with Branchio‐Otic syndrome in a Malian family	11
Adults with lysosomal storage diseases in the undiagnosed diseases network	11
The clinical, myopathological, and genetic analysis of 155 Chinese mitochondrial ophthalmoplegia patients with mitochondrial DNA single large deletions	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	10
Systematic review on gene–sun exposure interactions in skin cancer	10
A novel heterozygous variant of FOXJ1 in a Chinese female with primary ciliary dyskinesia and hydrocephalus: A case report and literature review	10
Bedtime extended release cornstarch improves biochemical profile and sleep quality for patients with glycogen storage disease type Ia	10
A homozygous stop codon in HORMAD2 in a patient with recurrent digynic triploid miscarriage	10
Genotype–Phenotype Correlations in Klinefelter and Turner Syndrome: A Decade of Sex Chromosome Aneuploidy Data From a Single Academic Medical Center	10
Frameshift Mutation in PAX2 Related to Focal Segmental Glomerular Sclerosis: A Case Report and Literature Review	10
Characterization of a novel non‐canonical splice site variant (c.886‐5T>A) in NBAS and description of the associated phenotype	10
Novel Compound Heterozygous Variants in the TCTN2 Gene Causing Meckel–Gruber Syndrome 8 in a Non‐C	10
Identification of rare missense variants in the BSN gene co‐segregating with chronic otitis media in a consanguineous Pakistani family	9
Genetic diagnosis of Alport syndrome in 16 Chinese families	9
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Estimate of genetic variants using CNV‐Seq for fetuses with oligohydramnios or polyhydramnios	9
Prenatal whole‐exome sequencing in fetuses with increased nuchal translucency	9
Issue Information	9
Issue Information	9
Electronic Patient Portals as a Modality for Returning Reclassified Genetic Test Results	9
Mutations obstructing ATP's emplacement in KIF2A nucleotide‐binding pocket causes parenchymal malformations, motor developmental delay, with intellectual disability	9
Identification of a novel heterozygous PTH1R variant in a Chinese family with incomplete penetrance	9
The significance of the fusion partner gene genomic neighborhood analysis in translocation‐defined tumors	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
Association of MMP1 and MMP3 haplotypes with myocardial infarction and echocardiographic parameters of the left ventricle	9
Social media use by patients with hypermobile Ehlers–Danlos syndrome	9
Analysis of the clinical and genetic characteristics of a Chinese family with osteogenesis imperfecta type I	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
Studying carrier frequency of spinal muscular atrophy in the State of Qatar and comparison to other ethnic groups: Pilot study	8
Genetic analysis and outcomes of Omani children with steroid‐resistant nephrotic syndrome	8
Prenatal phenotype of Wolf–Hirschhorn syndrome: A case series and literature review	8
Pathogenicity of the LDLR c.97C>T (p.Gln33Ter) Mutation in Familial Hypercholesterolemia	8
Retraction: Population genetics of 24 Y‐STR loci in Chinese Han population from Jilin Province, Northeast China	8
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A Novel Intronic Variant Causes Aberrant Splicing of PCDH15 in a Family With Usher Syndrome Type 1F	8
Screening of Inherited Retinal Disease Patients in a Low‐Resource Setting Using an Augmented Next‐Generation Sequencing Panel	8
A somatic splice‐site variant in PIK3R1 in a patient with vascular overgrowth and low immunoglobulin levels: A case report	8
Severe Renal Phenotype Across A Multigenerational Tuberous Sclerosis Complex ( TSC ) Family	8
Retraction: Population genetic analysis of Shaanxi male Han Chinese population reveals genetic differentiation and homogenization of East Asians	8
Management of methylmalonic acidemia (MMA) with N‐carbamylglutamate: A case report from Italy	8
Deep Sequencing and Phenotyping in an Australian Tuberous Sclerosis Complex “No Mutations Identified” Cohort	8
Clinical report and genetic analysis of a Chinese patient with developmental and epileptic encephalopathy associated with novel biallelic variants in the ST3GAL3 gene	8
Association Between KLF1, BCL11A and HBS1L‐MYB Polymorphisms and Phenotypes With β‐Thalassemia Patients in Hainan	7

Novel mutations of PMFBP1 in a man with acephalic spermatozoa defects	7
Barriers and Facilitators to Participation in Clinical Trials Related to Familial Frontotemporal Dementia: A Qualitative Study	7
A Novel A‐Kinase‐Anchoring Protein 9 Variant in Premature Coronary Artery Disease: A Case Series	7
Novel IRF6 variant in orofacial cleft patients from Durban, South Africa	7
Clinical and ocular abnormalities in DEGCAGS syndrome—Developmental delay with gastrointestinal, cardiovascular, genitourinary, and skeletal abnormalities	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
Exome sequencing findings in children with annular pancreas	7
ABCG2 polymorphisms and susceptibility to ARV‐associated hepatotoxicity	7
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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	7
A new patient with congenital myasthenic syndrome type 20 due to compound heterozygous missense SLC5A7 variants suggests trends in genotype–phenotype correlation	7
The effect of a single SMARCA4 exon deletion on RNA splicing: Implications for variant classification	7
11q13.3q13.4 deletion plus 9q21.13q21.33 duplication in an affected girl arising from a familial four‐way balanced chromosomal translocation	7
Retraction: Genetic polymorphism and phylogenetic analyses of 21 non‐CODIS STR loci in a Chinese Han population from Shanghai	7
Novel insight into FCSK‐congenital disorder of glycosylation through a CRISPR‐generated cell model	7
The Utility of Whole Exome Sequencing in Fetuses With Isolated Increased Nuchal Translucency	7
Expanding the mutational spectrum of ZTTK syndrome: A de novo variant with global developmental delay and malnutrition in a Chinese patient	7
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Targeted gene sequencing of FYCO1 identified a novel mutation in a Pakistani family for autosomal recessive congenital cataract	7
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De Novo HNRNPU Pathogenic Variant Related to Developmental Epileptic Encephalopathy With Inherited KANSL1 Loss‐of‐Function Variant Resolved by RNA Analys	7
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
Identifying patients with EVEN‐plus syndrome using exome sequencing and clinical feature analysis: A case report	6
Prenatal diagnosis and preimplantation genetics testing of 3M syndrome in a Chinese family with novel biallelic variants of CUL7	6
Chinese familial central precocious puberty with hyperuricemia due to recurrent DLK1 mutation: Case report and review of the literature	6
A novel heterozygous ATP1A2 pathogenic variant in a Chinese child with MELAS‐like alternating hemiplegia	6
Identification of Pathogenic Copy Number Variants in Mexican Patients With Inherited Retinal Dystrophies Applying an Exome Sequencing Data‐Based Read‐Depth Approach	6
Retraction: Genetic diversity and phylogenetic structure of four Tibeto‐Burman‐speaking populations in Tibetan‐Yi corridor revealed by insertion/deletion polymorphisms	6
Molecular Analysis of the HGD Gene in 9 Families With Alkaptonuric Ochronosis in Iran and Identification of Two Novel Variants	6
Massively parallel sequencing uncovered disease‐associated variant spectra of glucose‐6‐phosphate dehydrogenase deficiency, phenylketonuria and galactosemia in Vietnamese pregnant women	6
Utility of whole‐exome sequencing for patients with multiple congenital anomalies with or without intellectual disability/developmental delay in East Asia population	6
Identification of a novel COL7A1 variant associated with dystrophic epidermolysis bullosa pruriginosa responding effectively to dupilumab	6
Identification of De Novo Chromosomal Translocations Disrupting NIPBL in a Patient With Cornelia de Lange Syndrome by Full Genome Analysis	6
Clinical Features and Treatment Strategies of Li‐Fraumeni Syndrome Patients With Inherited TP53 Mutations	6
APOL1 polymorphisms are not influencing acute coronary syndrome risk in Czech males	6
Long‐read Oxford nanopore sequencing reveals a de novo case of complex chromosomal rearrangement involving chromosomes 2, 7, and 13	6
Issue Information	6
A novel splice‐site mutation in CHMP2B associated with frontotemporal dementia: The first report from China and literature review	6
A novel splicing mutation in 5'UTR of GJB1 causes X‐linked Charcot—Marie–tooth disease	6
Issue Information	6
A novel missense variant in OTUD5 causes X‐linked multiple congenital anomalies‐neurodevelopmental syndrome	6
Identifying a Novel Causal FAM83H Variant for Autosomal Dominant Amelogenesis Imperfecta Using Exome‐Sequencing	6
Two novel AMHR2 gene variants in monozygotic twins with persistent Müllerian duct syndrome: A case report and functional study	6
46,XY/46,XY Chimerism: Prenatal Presentation and Postnatal Outcome	6
Case report: Compound heterozygous nonsense PCDH15 variant and a novel deep‐intronic variant in a Chinese child with profound hearing loss	6
Diagnosis of Arboleda‐Tham syndrome by whole‐exome sequencing in an Asian girl with severe developmental delay	6
Prenatally Diagnosed 7q11.23 Copy Number Variations: A Retrospective Case Series	6
Clinical study and genetic analysis of Cornelia de Lange syndrome caused by a novel MAU2 gene variant in a Chinese boy	6
A new genetic diagnosis strategy for paroxysmal kinesigenic dyskinesia: Targeted high‐throughput detection of PRRT2 gene c.649 locus	6
Pathogenic Variants and Olipudase Alfa Treatment of Patients With Acid Sphingomyelinase Deficiency in Taiwan	6
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Quality of life in children with Down syndrome and its association with parent and child demographic characteristics: Parent‐reported measures	6
Psychological Distress and Quality of Life in Families With a Germline CDKN2A Pathogenic Variant	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
Identification of a novel TSC1 gene variant in a patient with atypical vitiligo‐like skin lesions: Unveiling the hidden tuberous sclerosis complex	6
Next‐generation sequencing in identification of pathogenic variants in primary hyperoxaluria among 21 Egyptian families: Identification of two novel AGXT gene mutations	6
Early cardiomyopathy without severe metabolic dysregulation in a patient with cblB‐type methylmalonic acidemia	6
Noonan syndrome: rhGH treatment and PTPN11 mutation	6
Two Nonsense GLI3 Variants Are Identified in Two Chinese Families With Polydactyly	6
Mutation spectrum of non‐syndromic hearing loss in the UAE, a retrospective cohort study and literature review	6
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Prevalence of Constitutional Pathogenic Variant in a Cohort of 348 Patients With Multiple Primary Cancer Addressed in Oncogenetic Consultation	5
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Identification of potential molecular mechanism related to craniofacial dysmorphism caused by FOXI3 deficiency	5
A novel splicing variant of VCAN identified in a Chinese family initially diagnosed with familial exudative vitreoretinopathy	5
Association of family sequence similarity gene 13A gene polymorphism and interstitial lung disease susceptibility: A systematic review and meta‐analysis	5
Congenital disorder of glycosylation with defective fucosylation 2 (FCSK gene defect): The third report in the literature with a mild phenotype	5
Clinical characteristics of a case of multiple mitochondrial dysfunction syndrome 3	5
KBG syndrome: Clinical features and molecular findings in seven unrelated Korean families with a review of the literature	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
Identification of a novel LMX1B nonsense variant associated with congenital talipes equinovarus by prenatal exome sequencing: A case report	5
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NAT2 and CYP2E1 polymorphisms and antituberculosis drug‐induced hepatotoxicity in Peruvian patients	5
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Germline mutations in pediatric cancer cohort with mixed‐ancestry Mexicans	5

Atypical mandibulofacial dysostosis with microcephaly diagnosed through the identification of a novel pathogenic mutation in EFTUD2	5
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
Identification of a de novo variant in the ASXL2 gene related to Shashi‐Pena syndrome	5
Whole exome sequencing reveals several novel variants in congenital disorders of glycosylation and glycogen storage diseases in seven patients from Iran	5
Clinical report and genetic analysis of rare premature infant nephronophthisis caused by biallelic TTC21B variants	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
Mutation spectrum of hearing loss patients in Northwest China: Identification of 20 novel variants	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
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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Asymptomatic ASS1 carriers with high blood citrulline levels	5
A new line method; A direct test in spinal muscular atrophy screening for DBS	5
Assessing population substructure in the Lebanese population: A population study using data on 23 autosomal short tandem repeats	5
Rapid Whole Genome Sequencing Uncovers a Triple Diagnosis: X‐Linked Chondrodysplasia Punctata, MECP2‐Related Disorder, and Mosaic Jacobs Syndrome	5
Unraveling CBS Mutations and Their Clinical Impact in a Chinese Family With Classical Homocystinuria	5
Gene polymorphisms of cyclin‐dependent kinase inhibitor and matrix metalloproteinase‐9 in Sudanese patients with esophageal squamous cell carcinoma	5
Systematic analysis of the causes of NIPS sex chromosome aneuploidy false‐positive results	5
Targeted nanopore sequencing enables complete characterisation of structural deletions initially identified using exon‐based short‐read sequencing strategies	5
Clinical and Genetic Analysis of SMARCC2 ‐Related Diseases in Three Chinese Patients	5
Novel De Novo Intronic Variant of SYNGAP1 Associated With the Neurodevelopmental Disorders	5
Targeted copy number variant identification across the neurodegenerative disease spectrum	5
Identification of genetic characteristics in pediatric epilepsy with focal cortical dysplasia type 2 using deep whole‐exome sequencing	5
Whole‐genome sequencing revealed a novel long‐range deletion mutation spanning GNAS in familial pseudohypoparathyroidism	5
The first glycine‐to‐tryptophan substitution in the COL1A1 gene identified in a patient with progressively‐deforming Osteogenesis imperfecta	5
Novel compound heterozygous mutations of the FBP1 gene in a patient with hypoglycemia and lactic acidosis: A case report	4
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A novel CLCNKB variant in a Chinese family with classic Bartter syndrome and prenatal genetic diagnosis	4
Genetic Insights Into Craniosynostosis: Identification of Novel IL11RA Variants in Chinese Pediatric Patients	4
The current benefit of genome sequencing compared to exome sequencing in patients with developmental or epileptic encephalopathies	4
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A rare case of dysferlinopathy with paternal isodisomy for chromosome 2 determined by exome sequencing	4
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Characterization of a germline variant MSH6 c.4001G > C in a Lynch syndrome family	4
New insights from trio whole‐exome sequencing in the children with kidney disease: A single‐center retrospective cohort study	4
Implementation of an Inherited Diseases Gene Panel to Accelerate Precision Medicine in the South African Public Healthcare System	4
Novel biallelic mutations in TTC29 cause asthenoteratospermia and male infertility	4
Spinal muscular atrophy carrier frequency in Saudi Arabia	4
Familial gigantiform cementoma with recurrent ANO5 p.Cys356Tyr mutations: Clinicopathological and genetic study with literature review	4
The Functions and Implications of MicroRNAs in Premature Ovarian Insufficiency	4
Clinical details of individuals with Rauch–Steindl syndrome due to NSD2 truncating variants	4
Evaluation of the clinical effects of non‐invasive prenatal screening for diseases associated with aneuploidy and copy number variation	4
A novel variant in the FLCN gene in a Chinese family with Birt–Hogg–Dubé syndrome	4
A new syndromic case of hearing loss and ectodermal anomalies associated with a recurrent missense variation in GJB6 gene	4
Clinicopathological features of Lynch syndrome pedigrees with MSH2 c.351G>A gene variant	4
Defective C3d caused by C3 p.W1034R in inherited atypical hemolytic uremic syndrome	4
Two novel pathogenic variants in the TCOF1 found in two Chinese cases of Treacher Collins syndrome	4
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A De Novo Splicing Mutation of SRP72 in Bone Marrow Failure Syndrome Type 1: Case Report and Review of the Literature	4
Approaches to Evaluate Whole Exome Sequencing Data That Incorporate Genetic Intolerance Scores for Congenital Anomalies, Including Intronic Regions Adjacent to Exons	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
Early‐onset diabetes mellitus as a presenting feature of Werner's syndrome in an Indian family	4
Atypical Prader–Willi Syndrome Deletions: Insights Into the Complex Regulation and Phenotypic Variability	4
Prenatal Diagnosis of Autosomal Recessive Primary Microcephaly Type 2 Caused by Compound Heterozygous WDR62	4
Clinical and genetic findings in Chinese families with congenital ectopia lentis	4
Correction to “Analysis of the clinical and genetic characteristics of a Chinese family with osteogenesis imperfecta type I”	4
A De Novo Frameshift Variant in SMC1A Causes Non‐Classic Cornelia de Lange Syndrome With Epilepsy: A Case Report and Literature Review	4
Clinical outcomes of fetuses with chromosome 16 short arm copy number variants	4
Pharmacogenomic Calling From Whole‐Exome Sequencing in the Taiwanese Population—A Real‐World Experience	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
SRY+ Derivative X Chromosome in a Female With Apparently Typical Sexual Development	4
Correction to “Influence of the Sex of Translocation Carrier on Clinical Outcomes of Couples Undergoing Preimplantation Genetic Testing”	4
Multicolor melting curve analysis discloses high carrier frequency of hearing loss‐associated variants among neonates in Jiangsu province	4
A KCNQ4 Gene Variant (c.701A > G; p.His234Arg) in a Chinese Family With Nonsyndromic Deafness 2A	4
Prevalence and clinical implications of germline mutations among Jordanian patients with ovarian cancer. The Jordanian exploratory cancer genetics (Jo‐ECAG) ovarian study	4
Unveiling the Genetic and Phenotypic Landscape of a Chinese Cohort With Retinitis Pigmentosa	4
Reporting a Homozygous Case of Neurodevelopmental Disorder Associated With a Novel PRPF8 Variant	4
Diagnosis of Menke‐Hennekam syndrome by prenatal whole exome sequencing and review of prenatal signs	4
Novel LAMA1 Mutations in a Pedigree With Poretti‐Boltshauser Syndrome: Implications for Hypomyelination	4
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Genetic Manifestations and Phenotype Spectrum in Infants With Feeding Difficulty	4
Mutation profiling in South African patients with Cornelia de Lange syndrome phenotype	4
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
New pathogenic variants in ARMC5 gene in a series of Italian patients affected by primary bilateral macronodular adrenocortical hyperplasia (PBMAH)	4
A Maternal Loss‐of‐Function Variant in KHDC3L Gene Causes a Range of Adverse Pregnancy Outcomes: A Case Report	4
Mutation spectrum of retinoblastoma patients in Vietnam	4
Maculopathy and adult‐onset ataxia in patients with biallelic MFSD8 variants	4
Allele‐specific long‐range sequencing as a method for ABO haplotyping in clinical blood group diagnosis and immunohematology research	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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A Novel Intronic Mutation in MBD5 Results in Autosomal Dominant Intellectual Disability Type 1 due to Abnormal Splicing	4