OOIR: Observatory of International Research

Papers

(The median citation count of Molecular Syndromology is 0. The table below lists those papers that are above that threshold based on CrossRef citation counts [max. 250 papers]. The publications cover those that have been published in the past four years, i.e., from 2020-03-01 to 2024-03-01.)

Article	Citations
Genetic Mutations Associated with Pierre Robin Syndrome/Sequence: A Systematic Review	16
Lymphatic Abnormalities in Noonan Syndrome Spectrum Disorders: A Systematic Review	16
Prevalence and Phenotypic Impact of Robertsonian Translocations	16
Wiedemann-Steiner Syndrome as a Differential Diagnosis of Cornelia de Lange Syndrome Using Targeted Next-Generation Sequencing: A Case Report	11
Homozygous Missense Variation in <b><i>PNPLA8</i></b> Causes Prenatal-Onset Severe Neurodegeneration	8
A Recurrent Variant in <b><i>POLR1B</i></b>, c.3007C>T; p.Arg1003Cys, Associated with Atresia of the External Canal and Microtia in Treacher Collins Syndrome Type 4	6
Building the Future Therapies for Down Syndrome: The Third International Conference of the T21 Research Society	6
Differential Expression of Long Noncoding RNAs in Patients with Coronary Artery Disease	6
Expanding the Phenotype of <b><i>TUBB2A</i></b>-Related Tubulinopathy: Three Cases of a Novel, Heterozygous <b><i>TUBB2A</i></b> Pathogenic Variant p.Gl	6
Variants in the <b><i>PNPLA1</i></b> Gene in Families with Autosomal Recessive Congenital Ichthyosis Reveal Clinical Significance	6
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome Resembling Juvenile Idiopathic Arthritis: A Single-Center Experience from Southern Turkey	5
Clinical Implications of Chromosome 16 Copy Number Variation	5
Identification of the TTC26 Splice Variant in a Novel Complex Ciliopathy Syndrome with Biliary, Renal, Neurological, and Skeletal Manifestations	5
Asprosin, a C-Terminal Cleavage Product of Fibrillin 1 Encoded by the <b><i>FBN1</i></b> Gene, in Health and Disease	5
Clinical Features of Okur-Chung Neurodevelopmental Syndrome: Case Report and Literature Review	4
ALG1-CDG: A Patient with a Mild Phenotype and Literature Review	4
Kabuki Syndrome: Identification of Two Novel Variants in <b><i>KMT2D</i></b> and <b><i>KDM6A</i></b>	4
Multicentric Carpotarsal Osteolysis Syndrome in a Mother and Daughter with a <b><i>MAFB</i></b> Missense Variant and Natural History of the Disease	4
Two Siblings with Kaufman Oculocerebrofacial Syndrome Resembling Oculoauriculovertebral Spectrum	4
<b><i>FIG4</i></b>-Associated Yunis-Varon Syndrome: Identification of a Novel Missense Variant	4
Pharmacological Treatment of Severe Breathing Abnormalities in a Case of HNRNPU Epileptic Encephalopathy	4
Sensenbrenner Syndrome Presenting with Severe Anorexia, Failure to Thrive, Chronic Kidney Disease and Angel-Shaped Middle Phalanges in Two Siblings	4
Biallelic Novel USP53 Splicing Variant Disrupting the Gene Function that Causes Cholestasis Phenotype and Review of the Literature	4
Goldberg-Shprintzen Syndrome Associated with a Novel Variant in the <b><i>KIFBP</i></b>Gene	3
Two New Cases of Primary Microcephaly with Neuronal Migration Defect Caused by Truncating Mutations in the <b><i>ASPM</i></b> Gene	3

Co-Occurrence of Pallister-Killian Syndrome and Burkitt Lymphoma in a Patient with Near-Normal Neurocognitive Development	3
Pure Distal 7q Duplication: Describing a Macrocephalic Neurodevelopmental Syndrome, Case Report and Review of the Literature	3
A Patient with a Novel <b><i>RARS2</i></b> Variant Exhibiting Liver Involvement as a New Clinical Feature and Review of the Literature	3
Clinical and Genetic Characteristics of Patients with Unexplained Intellectual Disability/Developmental Delay without Epilepsy	3
Neuroimaging Findings in Patients with <b><i>EBF3</i></b> Mutations: Report of Two Cases	3
Intracranial Calcification Associated with 3-Methylcrotonyl-CoA Carboxylase Deficiency	3
First Report of Two Egyptian Patients with Desbuquois Dysplasia due to Homozygous <b><i>CANT1</i></b> Mutations	3
Biallelic Mutations in <b><i>DNAJB11</i></b>are Associated with Prenatal Polycystic Kidney Disease in a Turkish Family	3
Severe Antenatal Hypertrophic Cardiomyopathy Secondary to ACAD9-Related Mitochondrial Complex I Deficiency	3
Persistent Hyperplastic Primary Vitreous with Microphthalmia and Coloboma in a Patient with Okur-Chung Neurodevelopmental Syndrome	3
Two Patients Diagnosed as Succinate Dehydrogenase Deficiency: Case Report	2
A Case of Combined Oxidative Phosphorylation Deficiency 35 Associated with a Novel Missense Variant of the <b><i>TRIT1</i></b> Gene	2
Description of Phenotypic Heterogeneity in a GJC2-Related Family and Literature Review	2
Co-Occurring Atypical Galactosemia and Wilson Disease	2
A Frameshift Variant in <b><i>KIAA0825</i></b> Causes Postaxial Polydactyly	2
Nonlethal Raine Syndrome in a Newborn Boy Caused by a Novel <b><i>FAM20C</i></b> Variant	2
Genetic Characterization of Hereditary Cancer Syndromes Based on Targeted Next-Generation Sequencing	2
Novel Findings in Floating-Harbor Syndrome and a Mini-Review of the Literature	2
Balanced at First Sight, but in Reality out of Balance	2
<b><i>KMT2B</i></b>-Related Dystonia: Challenges in Diagnosis and Treatment	2
Evaluation of Sporadic and Familial Cases with Craniofrontonasal Syndrome: A Wide Clinical Spectrum and Identification of a Novel <b><i>EFNB1</i></b> Gene Mutation	2
Autosomal Recessive Primary Microcephaly (MCPH) and Novel Pathogenic Variants in <b><i>ASPM</i></b> and <b><i>WDR62</i></b> Genes	2
X-Linked Spinal Muscular Atrophy 2 due to a Synonymous Variant in the <b><i>UBA1</i></b> Gene in a Family with Novel Findings from Turkey	2
SLC26A2/DTDST Spectrum: A Cohort of 12 Patients Associated with a Comprehensive Review of the Genotype-Phenotype Correlation	2
Interstitial Deletion of 2q22.2q22.3 Involving the Entire <b><i>ZEB2</i></b> Gene in a Case of Mowat-Wilson Syndrome	2
Further Expansion of the Mutational Spectrum of 3MC Syndrome: A Novel <b><i>MASP1</i></b> Pathogenic Variant in a Male Patient	2
CLN3-Associated NCL Case with a Preliminary Diagnosis of Niemann Pick Type C	2
Bi-Allelic c.1746G>T; p.Leu582= Variants in <b><i>TUBGCP4</i></b> in a Boy with Autism: Clinical Data and Literature Review	2
Distinct Autism Spectrum Disorder Phenotype and Hand-Flapping Stereotypes: Two Siblings with Novel Homozygous Mutation in <b><i>TRAPPC9</i></b> Gene and Literature Review	2
Prenatal Silver-Russell Syndrome in a Chinese Family Identified by Non-Invasive Prenatal Testing	2
Genetic Landscape of <b><i>SCN1A</i></b> Variants in a Turkish Cohort with GEFS+ Spectrum and Dravet Syndrome	2
Gene Mutations in Cushing’s Syndrome	2
A Rare Contiguous Gene Deletion Leading to Trichothiodystrophy Type 4 and Glutaric Aciduria Type 3	2
Typical Face, Developmental Delay, and Hearing Loss in a Patient with 3M Syndrome: The Co-Occurrence of Two Rare Conditions	2
Identification of a Novel IQCE Large Deletion through Copy Number Variant Analysis from Whole-Exome Sequencing Data of a Patient with Postaxial Polydactyly Type A7	1
An Apparently Balanced Complex Chromosome Rearrangement Involving Seven Breaks and Four Chromosomes in a Healthy Female and Segregation/Recombination in Her Affected Son	1
Two Novel Variants and One Previously Reported Variant in the <b><i>ATP2C1</i></b> Gene in Chinese Hailey-Hailey Disease Patients	1
Coexistence of Megaconial Congenital Muscular Dystrophy and Cystinuria: Mimicking Hypotonia-Cystinuria Syndrome	1
Comprehensive Genetic Analysis of RASopathy in the Era of Next-Generation Sequencing and Definition of a Novel Likely Pathogenic <b><i>KRAS</i></b> Variation	1
Homozygous Missense Variant in the N-Terminal Region of ANK3 Gene Is Associated with Developmental Delay, Seizures, Speech Abnormality, and Aggressive Behavior	1
Novel Cranial Imaging Findings and a Splice-Site Variant in a Patient with Tyrosinemia Type III, and a Summary of Published Cases	1
Novel Pathogenic Variant (c.1171A>T) in <b><i>PHF21A</i></b> in a Female with Intellectual Disability and Craniofacial Anomalies	1
FBLN5-Related Cutis Laxa Syndrome: A Case with a Novel Variant and Review of the Literature	1
Deciphering the Pathogenic Nature of Two de novo Sequence Variations in a Patient with Shprintzen-Goldberg Syndrome	1
Deletion of 16q22.2q23.3 in a Boy with a Phenotype Reminiscent of Silver-Russell Syndrome	1
Gene Ontology Enrichment Analysis of Renal Agenesis: Improving Prenatal Molecular Diagnosis	1
A Case with NAD(P)HX Dehydratase (NAXD) Deficiency: A Newly Defined Mutation in a Novel Neurodegenerative Disorder	1
Identification of a Novel Nonsense Variant in the DLL3 Gene Underlying Spondylocostal Dysostosis in a Consanguineous Pakistani Family	1
Main Physical Features, Echocardiographic and Renal Ultrasonographic Findings of Turner Syndrome in 107 Pediatric Patients	1
22q11 Copy Number Variations in a Brazilian Cohort of Children with Congenital Heart Disorders	1

New Report of a Different Clinical Presentation of <b><i>CD151</i></b> Splicing Mutation (c.351+2T>C): Could <b><i>TSPAN11</i></b> be Considere	1
Aicardi-Goutières Syndrome due to a SAMHD1 Mutation Presenting with Deep White Matter Cysts	1
COL7A1 Homozygous Arg2471Ter Mutation Leads to the Severe Phenotype of Autosomal Recessive Dystrophic Epidermolysis Bullosa in the Fetus	1
Diagnostic Gene Panel Testing in (Non)-Syndromic Patients with Cleft Lip, Alveolus and/or Palate in the Netherlands	1
A Witteveen-Kolk Syndrome Patient with Reflux Disease and a de novo Deletion of the SIN3A Gene	1
Left Ventricular Systolic Dysfunction Related to Adrenal Insufficiency in a Case due to Autoimmune Polyendocrine Syndrome Type 1 with a Novel Variant	1
Spondylometaepiphyseal Dysplasia Short Limb-Abnormal Calcification Type in Turkish Patients Reveals a Novel Mutation and New Features	1
Further Evidence of a Continuum in the Clinical Spectrum of Dominant <b><i>PIEZO2</i></b>-Related Disorders and Implications in Cerebellar Anomalies	1
Expanding the p.(Arg85Trp) Variant-Specific Phenotype of HNF4A: Features of Glycogen Storage Disease, Liver Cirrhosis, Impaired Mitochondrial Function, and Glomerular Changes	1
Report on a Case with Moreno-Nishimura-Schmidt Overgrowth Syndrome: A Clinically Delineated Disease Yet of an Unknown Origin!	1
Identification of a Novel de novo Splicing Mutation in Duchenne Muscular Dystrophy Gene in an Iranian Family	1
De novo Pure Partial Trisomy 6p Associated with Facial Dysmorphism, Developmental Delay, Brain Anomalies, and Primary Congenital Hypothyroidism	1
The New Youngest Case of Grange Syndrome with a Novel Biallelic Pathogenic Variant in YY1AP1	1
First Patient Diagnosed as Feingold Syndrome Type 2 with Alport Syndrome and Review of the Current Literature	1
Diverse Clinical Manifestations of Cardiofaciocutaneous Syndrome Type 3 in Two Patients from South East Asia	1
The Role of Copy Number Variations and FHIT Gene on Phenotypic Characteristics of Cases Diagnosed with Autism Spectrum Disorder	1
Mutated Transcripts of ZEB2 Do Not Undergo Nonsense-Mediated Decay in Mowat-Wilson Syndrome	1
Clinical and Molecular Update on the Fourth Reported Family with Hamamy Syndrome	1
Potential Pitfalls in Pre-implantation Genetic Diagnosis in a Patient with Tuberous Sclerosis and Isolated Mosaicism for a <b><i>TSC2</i></b> Variant in Renal Tissue	1
Pre- and Postnatal Characterization of Autosomal Recessive <b><i>KIDINS220</i></b>-Associated Ventriculomegaly	1
Expanded Phenotypic Spectrum or Multiple Syndromes?	1
The Methylation Status in the Chromosome 11p15.5 Region and Metabolic Disorders in Children with Syndromic and Nonsyndromic Intrauterine Growth Restriction	1
Genotype and Phenotype Characterization of Patients with Mucopolysaccharidosis IV-A in Chile	1
A New Family with a Novel <b><i>OTUD6B</i></b> Mutation: Practicing Whole Exome Sequencing for Antenatal Diagnosis of Tetralogy of Fallot	1
Partial Trisomy 13q/Monosomy 3p Resulting from a Paternal Reciprocal 3p;13q Translocation in a Boy with Facial Dysmorphism and Hypertrophic Cardiomyopathy	1
X-Linked Hydrocephalus with New L1CAM Pathogenic Variants: Review of the Most Prevalent Molecular and Phenotypic Features	1
Noonan Syndrome with Multiple Lentigines and <b><i>PTPN11</i></b> Mutation: A Case with Intracerebral Hemorrhage	1
A Novel Homozygous <b><i>ALG12</i></b> Mutation in a Patient with CDG Type Ig: New Report of a Case with a Mild Phenotype	1
Novel Compound Heterozygous Mutation c.3955_3958dup and c.5825C>T in the <b><i>ATM</i></b> Gene: Clinical Evidence of Ataxia-Telangiectasia and Cancer in a Peruvian Fa	1
Sequence Variants in MEGF8 and GJA1 Underlying Syndactyly	1
A Missense Pathogenic Variant in a Conserved Region of CNTNAP2 Is Associated with Obesity, Seizures, and Language Impairment in a Pakistani Family	0
Publisher's Note	0
Prenatal Diagnosis of Intragenic HNF1B Variant-Associated Renal Disease by Exome Sequencing	0
A Boy with Sandestig-Stefanova Syndrome and Genital Abnormalities	0
An 88.8-kb Novel Deletion of 19q13.2 Encompassing the <b><i>ATP1A3</i></b>Gene Detected by Array CGH in a Patient with Delayed Psychomotor Development, Generalized Hypotonia an	0
Molecular Modeling and Phenotypic Description of a Patient with a Novel Exonic Deletion of <b><i>GALNS</i></b> with Resultant Morquio Syndrome with Two Successful Pregnancies	0
A Novel Variant in <i>AKAP9</i> Gene, a Controversial Gene, in Long QT Syndrome	0
A New Case of Rare Microdeletion 10q22.3q23 along with Mosaic Klinefelter Syndrome Associated with Facial Dysmorphic Finding, Atrial Ventricular Septal Defect, and Motor Retardation	0
Delving into the Genetic Causes of Language Impairment in a Case of Partial Deletion of NRXN1	0
Contents, Vol. 12, 2021	0
Clinical and Molecular Characterization of Mucopolysaccharidosis Type 3A and 3B in a Turkish Series	0
Identification of High-Risk Single Nucleotide Polymorphisms in the Human CYB5R3 Gene Responsible for Recessive Congenital Methemoglobinemia: A Computational Approach	0
Identification of Two Novel Frameshift Mutations in Exostosin 1 in Two Families with Multiple Osteochondromas	0
Front & Back Matter	0
Reanalysis of Chromosomal Microarray Data Using a Smaller Copy Number Variant Call Threshold Identifies Four Cases with Heterozygous Multiexon Deletions of ARID1B, EHMT1, and FOXP1 Genes	0
Delayed Bone Age in a Child with a Novel Loss-of-Function Variant in <i>SETBP1</i> Gene Sheds Light on the Potential Role of SETBP1 Protein in Skeletal Development	0
Clinical Presentation and Molecular Characterization of 3 Patients with Vici Syndrome: Two Novel Variants in the <i>EPG5</i> Gene	0
Smith-Lemli-Opitz Syndrome with Biallelic c.1295A>G (p.Tyr432Cys) Variant in the <i>DHCR7</i> Gene in a 73-Year-Old Woman: Report of the Oldest Patient	0
Homozygous Val6Gly Variation in PRDM5 Gene Causing Brittle Cornea Syndrome: A New Turkish Case	0
Exome Sequencing Identifies a Novel <b><i>SIN3A</i></b> Variant in a Patient with Witteveen-Kolk Syndrome	0
Clinical Exome Sequencing Enables Congenital Sialidosis Type II Diagnosis in Two Siblings Presenting with Unreported Clinical Features from a Rare Homozygous Sequence Variant p.(Tyr370Cys) in <b>	0
Triple-A Syndrome in Morocco: Founder Effect, Age Estimation of the AAAS c.1331+1G>A Variant, and Implications for Genetic Diagnosis	0
Erratum	0
A Family with EEC Syndrome in the Son and ADULT Syndrome in His Father Caused by the c.797G>A (p.Arg266Gln) Pathogenic Variant in the <i>TP63</i> Gene	0
Association <b><i>SOD2</i></b> and <b><i>PON1</i></b> Gene Polymorphisms with Polycystic Ovary Syndrome in Saudi Women	0
Novel Insights from Clinical Practice: Xia-Gibbs Syndrome with Pes Cavus, Conjunctival Melanosis, and Eye Asymmetry due to a de novo AHDC1 Gene Variant – A Case Report and a Brief Review of the Litera	0
VAMP2 Gene-Related Neurodevelopmental Disorder: A Differential Diagnosis for Rett/Angelman-Type Spectrum of Disorders	0
Erratum	0
Front & Back Matter	0
Dual Diagnosis of Trichohepatoenteric Syndrome and Lipoid Proteinosis in a Turkish Child	0
Growth Hormone Deficiency due to p.(Gln467Argfs*64) Mutation in the <b><i>ARID1B</i></b> Gene in a Girl with Coffin-Siris Syndrome	0
A Novel Homozygous <i>ACBD5</i> Variant in an Emerging Peroxisomal Disorder Presenting with Retinal Dystrophy and a Review of the Literature	0
Pterin Profiling in Serum, Dried Blood Spot, and Urine Samples Using LC-MS/MS in Patients with Inherited Hyperphenylalaninemia	0
Copy Number Variations in Hereditary Spastic Paraplegia-Related Genes: Evaluation of an Iranian Hereditary Spastic Paraplegia Cohort and Literature Review	0
A Mild Phenotype of Mitochondrial DNA Depletion Syndrome Type 13 with a Novel <b><i>FBXL4</i></b> Variant	0
Reanalysis of Whole-Exome Sequencing Data of an Infant with Suspected Diagnosis of Jeune Syndrome Revealed a Likely Pathogenic Variant in <i>GRK2:</i> A Newly Associated Gene for Jeune Syn	0
First Co-Occurrence of Griscelli Syndrome Type 2 and Neurofibromatosis Type 1	0
Acknowledgement to Reviewers	0
Front & Back Matter	0
First Report of Mexican Patients with PACS1-Related Neurodevelopmental Disorder and Review of the PACS1-, PACS2-, and WDR37-Related Ophthalmological Manifestations	0
A Mild Skeletal Dysplasia Caused by a Biallelic Missense Variant in the SLC35D1 Gene	0
Front & Back Matter	0
Front & Back Matter	0
Dystonia and Contractures are Potential Early Signs of <b><i>CACNA1E</i></b>-Related Epileptic Encephalopathy	0
A Male Child with Infantile Epilepsy due to a Mosaic Missense Variant of PCDH19	0
An Atypical Presentation of Mevalonate Kinase Deficiency in Response to Colchicine Treatment	0
Mosaic Variegated Aneuploidy Syndrome and Noonan Syndrome in the Same Family	0
Hydrocephalus and Growth Retardation: A Fetal RNU4ATAC-opathy Missed by Whole-Exome Sequencing	0
Shifting the Focus of Molecular Syndromology from Individual Diagnoses to Outcome Analyses	0
New <b><i>SHH</i></b> and Known <b><i>SIX3</i></b> Variants in a Series of Latin American Patients with Holoprosencephaly	0

Blended Phenotype of Pelger-Huet Anomaly with Osteochondroma and Autosomal Recessive Deafness with Enlarged Vestibular Aqueduct	0
A Homozygous Missense Variant in <i>HSD17B4</i> Identified in Two Different Families	0
Currarino Syndrome in Two Moroccan Siblings with Inherited 7q36 Deletion due to Maternal t(7;21)(q36;p11)mat: A Case Report	0
First Report of a de novo 10q23.31q23.33 Microdeletion: Obesity, Intellectual Disability and Microcephaly	0
Delineation of a Phenotype Caused by a <b><i>KAT6B</i></b> Missense Variant Not Resembling Say-Barber-Biesecker-Young-Simpson and Genitopatellar Syndromes	0
Expanding Phenotype of SYT1-Related Neurodevelopmental Disorder: Case Report and Literature Review	0
A Second Family with Myhre Syndrome Caused by the Same Recurrent SMAD4 Pathogenic Variation (p.Arg496Cys)	0
Deep White Matter Cysts in a Patient with Aicardi-Goutières Syndrome and <b><i>SAMHD1</i></b> Variants	0
Dandy-Walker Malformation in a Girl with DDX3X-Related Intellectual Disability	0
The Expanding Phenotypic Spectrum of <b><i>NUP188</i></b> Variants Points Toward Multiple Biological Pathways	0
SBIDDS Syndrome: A New Spoke of the Epigenetic Machinery Wheel	0
Clinical Heterogeneity in Patients with Long QT Syndrome and Segregation of Single Nucleotide Variants and Clinical Symptoms in 17 Affected Families	0
Two Sibling Cases of Spastic Paraplegia-45 with a Novel Pathogenic Variant in <i>NT5C2</i> Gene: Concomitant <i>RYR1</i> Gene in One Sibling	0
Cerebellar Hypoperfusion in Two Patients with Cornelia de Lange Syndrome with Novel NIPBL Variants	0
Mosaicism of a Truncating Variant of CASK Causes Congenital Heart Disease and Neurodevelopmental Disorder	0
Intrafamilial Phenotypic Heterogeneity in a Chinese Family with a <b><i>POLR1D</i></b> p.Q31Rfs*10 Variant: A Challenge in Prenatal Diagnosis	0
Further Clinical Delineation of Prolidase Deficiency Associated with c.1103T>G Variant	0
Dual Diagnosis of Nongoitrous Congenital Hypothyroidism-6 and Snijders Blok-Campeau Syndrome	0
A Case of Short Stature Caused by a Mutation in the ACAN Gene	0
Precision Medicine: from Molecular Diagnoses to Treatment Opportunities in Medical Genetics	0
First Report of Jacobsen Syndrome with Dextrocardia Diagnosed with del(11)(q24q25)	0
Detection of Modified Histones from Oral Mucosa of a Patient with DYT-KMT2B Dystonia	0
Novel Variant in the USP9X Gene Is Associated with Congenital Heart Disease in a Male Patient: A Case Report and Literature Review	0
Report of a Novel Homozygous Intragenic <i>DCC</i> Duplication and a Review of Literature of Developmental Split-Brain Syndrome aka Horizontal Gaze Palsy with Progressive Scoliosis-2 with	0
A Cockayne-Syndrome-Like Phenotype with a Homozygous Truncating <i>UVSSA </i>Variant: Might This Be a New Cause?	0
A Novel Frameshift Variant of the <b><i>MITF</i></b> Gene in a Chinese Family with Waardenburg Syndrome Type 2	0
Microdeletion 1p32p31 Presenting with Moyamoya Disease and Incomplete Hippocampal Inversion	0
Extensive, 3.8 Mb-Sized Deletion of 22q12 in a Patient with Bilateral Schwannoma, Intellectual Disability, Sensorineural Hearing Loss, and Epilepsy	0
Recurrent Mutation (p.Arg718Pro) in the COMP Gene with Clinical Heterogeneity of Pseudoachondroplasia	0
TRAPPC9-Related Intellectual Disability: Report of Two New Cases and Review of the Literature	0
Evaluation of the Effect of <b><i>FOXO3</i></b> rs13217795 Genotype and Minor Allele (C) on Clinical Chemistry and Genetic Risk of Diabetes Among the Elderly Individuals from N	0
Front & Back Matter	0
Front & Back Matter	0
DPAGT1-CDG: Report of Two New Pediatric Patients and Brief Review of the Literature	0
A Patient with Recurrent Severe Hypoglycemic Attacks and Mitochondrial Complex III Deficiency, Nuclear Type 3: a Novel <b><i>UQCRB</i></b> Variant	0
Front & Back Matter	0
Duplication of 12q24.21q24.33 in a Girl with Epilepsy, Expanding the Phenotype	0
Expanding the Phenotypic and Genotypic Spectrum of Weaver Syndrome: A Missense Variant of the EZH2 Gene	0
Front & Back Matter	0
Kosaki Overgrowth Syndrome: Report of a Family with a Novel PDGFRB Variant	0
Autism Spectrum Disorder in Two Unrelated Patients with Homozygous Variants in Either ALG8 or ALG11	0
Front & Back Matter	0
Front & Back Matter	0
Sepiapterin Reductase Deficiency Misdiagnosed as Neurological Sequelae of Meningitis	0
Front & Back Matter	0
239-kb Microdeletion Spanning <b><i>KMT2E</i></b> in a Child with Developmental Delay: Further Delineation of the Phenotype	0
Rare Transient Infantile Hypertriglyceridemia with Hypoglycemia and Insulin Resistance Caused by a Novel <b><i>GPD1</i></b> Mutation	0
Cri-du-Chat Syndrome: Revealing a Familial Atypical Deletion in 5p	0
Novel Mutation in the <i>HSD17B10</i> Gene Accompanied by Dysmorphic Findings in Female Patients	0
Case Report of Two Siblings Diagnosed with Osteogenesis Imperfecta Type XV with a New Mutation in the WNT1 Gene and Review of the Literature	0
Xq21.1q21.31 Duplication in Two Male Siblings	0
<b><i>BEND4</i></b> as a Candidate Gene for an Infection-Induced Acute Encephalopathy Characterized by a Cyst and Calcification of the Pons and Cerebellar Atrophy	0
<i>TPP1</i> Variants in Iranian patients: A Novel Pathogenic Homozygous Variant Causing Neuronal Ceroid Lipofuscinosis 2	0
What Can We Learn from the Parents of Children Affected with Mucopolysaccharidosis Type III-A in Israel?	0
Further Expanding the Mutational Spectrum of Gorlin Syndrome in Three Unrelated Families	0
Cytogenomic Characterization of a Novel de novo Balanced Reciprocal Translocation t(1;12) by Genome Sequencing Leading to Fusion Gene Formation of <b><i>EYA3/EFCAB4b</i></b>	0
Identification of a de novo, Novel Pathogenic Variant in the Splice Region of the SOX10 Gene in an Iranian Azeri Turkish Family with Waardenburg Syndrome	0
Prenatal Diagnosis of Acromelic Frontonasal Dysostosis	0
Front & Back Matter	0
Innovating Therapies for Down Syndrome: An International Virtual Conference of the T21 Research Society	0
Recurrent Vein of Galen Aneurysmal Malformation as a Presentation of Hereditary Hemorrhagic Telangiectasia	0
Further Evidence for RFWD3 Gene Causing Fanconi Anemia Complementation Group W: Detailed Clinical Report of the Second Case in the Literature	0
A Deeper Insight into <i>COL4A3</i>, <i>COL4A4</i>, and <i>COL4A5 </i>Variants and Genotype-Phenotype Correlation of a Turkish Cohort with Alport Syndrome	0
Overlapping Interstitial Deletions of the Region 9q22.33 to 9q33.3 of Three Patients Allow Pinpointing Candidate Genes for Epilepsy and Cleft Lip and Palate	0
Dyggve-Melchior-Clausen Syndrome Caused by a Novel Frameshift Variant in a Japanese Patient	0
Characterization of Associated Nonclassical Phenotypes in Patients with Deletion in the WAGR Region Identified by Chromosomal Microarray: New Insights and Literature Review	0
Front & Back Matter	0
Association of <i>ABCA13</i> Gene Variants with Autism Spectrum Disorder and Other Neuropsychiatric Disorders	0
Fibular Agenesis and Ball-Like Toes Mimicking Preaxial Polydactyly: Prenatal Presentation of Du Pan Syndrome	0
Novel Hemizygous Missense Variant of Spermine Synthase (<b><i>SMS</i></b>) Gene Causes Snyder-Robinson Syndrome in a Four-Year-Old Boy	0
Pure Interstitial Trisomy 11q Arising from a Nonrecurrent 11q13.1q22.3 Mosaic Intrachromosomal Duplication in a Patient with Craniofacial Dysmorphism and Genital Anomalies	0
The First Congenital Disorders of Glycosylation Patient (Fetus) with Homozygous COG5 c.95T>G Variant	0
Proteomic Analysis of m.8296A>G Variation in the Mitochondrial <b><i>tRNA</i></b><sup>Lys</sup> Gene	0
Homozygous Paternally Inherited <i>ASPA</i> Variant in a Patient with Canavan Disease	0
Severe Early-Onset Obesity and Diabetic Ketoacidosis due to a Novel Homozygous c.169C>T p.Arg57* Variant in <i>CEP19</i> Gene	0
Whole-Exome Sequencing in Turkish Patients with Inherited Retinal Dystrophies Reveals Novel Variants in Ten Genes	0
Analysis of Dopamine Receptor D2 Gene Polymorphism and Correlation with Dyslipidemia in the Chinese Population	0
Detecting a Novel NOTCH3 Variant in Patients with Suspected CADASIL: A Single Center Study	0
Contents	0
A Novel <b><i>ATM</i></b> Gene Mutation Affecting Splicing in an Ataxia-Telangiectasia Patient	0
Front & Back Matter	0
Delineating the Disease Boundaries: Homozygous <i>CDC14A</i> Variants Underlying Nonsyndromic Hearing Loss and Hearing Impairment Infertile Male Syndrome	0
Triosephosphate Isomerase Deficiency: E105D Mutation in Unrelated Patients and Review of the Literature	0
Acknowledgement to Reviewers	0
A Genetics Study in the Foreskin of Boys with Hypospadias	0
Novel SYNGAP1 Variant in an Adult Individual Affected by Intellectual Disability and Epilepsy: A Cold Case Solved through Whole-Exome Sequencing	0
Expanding the Phenotypic Spectrum of <b><i>HIVEP2</i></b>-Related Intellectual Disability: Description of Two Portuguese Patients and Review of the Literature	0
Laboratory and Genotype Relationship of Patients with SDHA-Related Mitochondrial Disease	0
Co-Occurrence of Myotonic Dystrophy Type 1 and Limb-Girdle Muscular Dystrophy Type 2B: A Case Report	0
Is 5-Oxoprolinase Deficiency More than Just a Benign Condition?	0
Sequence Variants in the <i>WNT10B</i> Underlying Non-Syndromic Split-Hand/Foot Malformation	0
A Novel Mutation in Melanocortin Receptor 2 and a Reported Mutation in Melanocortin Receptor 2 Accessory Protein: Three Chinese Cases with Familial Glucocorticoid Deficiency	0
A Rare Treatable Cause of Cardiomyopathy: Primary Carnitine Deficiency	0
Ocular Manifestations of Hurler-Scheie Syndrome: Recurrence of Host Disease in the Corneal Transplant	0
Dicentric Recombinant Chromosome 18 due to Maternal Paracentric Inversion Analyzed by Array CGH	0