OOIR: Observatory of International Research

Papers

(The TQCC of Molecular Syndromology is 1. 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 2021-04-01 to 2025-04-01.)

Article	Citations
A Recurrent c.416C>T Variant in the B3GAT3 Gene in the Turkish Population: Report of Two Siblings and Expanding the Clinical Spectrum	30
Atlantoaxial Instability due to Os Odontoideum in a Child with Christianson Syndrome	15
Determination of the Frequency of BCL-2 Polymorphisms (c.-717C>A and c.2364G>A) and LIF Polymorphism (c.1414T>G) in Patients with Congenital Anomalies of the Kidney and Urinary Tract	9
A Case of Opsismodysplasia with a Novel INPPL1 Variant	8
Microdeletion 1p32p31 Presenting with Moyamoya Disease and Incomplete Hippocampal Inversion	7
Whole-Exome Sequencing in Turkish Patients with Inherited Retinal Dystrophies Reveals Novel Variants in Ten Genes	7
Erratum	6
Dominant dystrophic epidermolysis bullosa with COL7A1 variant confirmed by whole-exome sequencing in a Chinese family and genotype-phenotype correlation analysis	6
Left Ventricular Systolic Dysfunction Related to Adrenal Insufficiency in a Case due to Autoimmune Polyendocrine Syndrome Type 1 with a Novel Variant	6
Two Patients Diagnosed as Succinate Dehydrogenase Deficiency: Case Report	5
Novel Variant in the USP9X Gene Is Associated with Congenital Heart Disease in a Male Patient: A Case Report and Literature Review	5
Front & Back Matter	4
Co-Occurrence of Myotonic Dystrophy Type 1 and Limb-Girdle Muscular Dystrophy Type 2B: A Case Report	4
A Rare Treatable Cause of Cardiomyopathy: Primary Carnitine Deficiency	4
Further Evidence of a Continuum in the Clinical Spectrum of Dominant <b><i>PIEZO2</i></b>-Related Disorders and Implications in Cerebellar Anomalies	4
Acknowledgement to Reviewers	4
A Case of Combined Oxidative Phosphorylation Deficiency 35 Associated with a Novel Missense Variant of the <b><i>TRIT1</i></b> Gene	4
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	4
The First Congenital Disorders of Glycosylation Patient (Fetus) with Homozygous COG5 c.95T>G Variant	4
Novel Pathogenic Variant (c.1171A>T) in <b><i>PHF21A</i></b> in a Female with Intellectual Disability and Craniofacial Anomalies	4
Association of <i>ABCA13</i> Gene Variants with Autism Spectrum Disorder and Other Neuropsychiatric Disorders	4
Sepiapterin Reductase Deficiency Misdiagnosed as Neurological Sequelae of Meningitis	4
Exploring the Genetic Etiology of Pediatric Epilepsy: Insights from Targeted Next-Generation Sequence Analysis	3
VAMP2 Gene-Related Neurodevelopmental Disorder: A Differential Diagnosis for Rett/Angelman-Type Spectrum of Disorders	3
Homozygous Intragenic Deletion in <i>WDR62</i> in Siblings with Primary Microcephaly	3

Bi-Allelic c.1746G>T; p.Leu582= Variants in <b><i>TUBGCP4</i></b> in a Boy with Autism: Clinical Data and Literature Review	3
Persistent Hyperplastic Primary Vitreous with Microphthalmia and Coloboma in a Patient with Okur-Chung Neurodevelopmental Syndrome	3
Kniest Dysplasia without Ocular and Auditory Abnormalities in a Boy of 12 Months	3
A Novel <b><i>ATM</i></b> Gene Mutation Affecting Splicing in an Ataxia-Telangiectasia Patient	3
A Patient with Recurrent Severe Hypoglycemic Attacks and Mitochondrial Complex III Deficiency, Nuclear Type 3: a Novel <b><i>UQCRB</i></b> Variant	3
A New Family with a Novel <b><i>OTUD6B</i></b> Mutation: Practicing Whole Exome Sequencing for Antenatal Diagnosis of Tetralogy of Fallot	3
Key Clinical and X-Ray Characteristics for the Diagnosis of Kenny-Caffey Syndrome Types 1 and 2	3
The Methylation Status in the Chromosome 11p15.5 Region and Metabolic Disorders in Children with Syndromic and Nonsyndromic Intrauterine Growth Restriction	3
A Novel NDUFV2 Variant in an Asymptomatic Adolescent Girl with Progressive Cavitating Leukoencephalopathy	2
Genetic variations in BCL3, MDM4, KLF14, and miR-146a and their associations with the predisposition and progression of myeloproliferative disorder and chronic myeloid leukemia patients	2
Screening for TSEN54 Variants in Egyptian Patients with Pontocerebellar Malformations	2
A Novel HERC2 Variant in Two Siblings with Autosomal Recessive Intellectual Developmental Disorder-38 and Cardiomyopathy	2
Homozygous Missense Variant in the N-Terminal Region of ANK3 Gene Is Associated with Developmental Delay, Seizures, Speech Abnormality, and Aggressive Behavior	2
Biallelic Novel USP53 Splicing Variant Disrupting the Gene Function that Causes Cholestasis Phenotype and Review of the Literature	2
Findings in chromosomal microarray analysis during prenatal diagnosis in high-risk individuals	2
RMND1 Mutation Case Report and Literature Review	2
Clinical And Molecular Evaluation of Beckwith-Wiedemann Syndrome With The BWSICS Score	2
Growth Hormone Deficiency due to p.(Gln467Argfs*64) Mutation in the <b><i>ARID1B</i></b> Gene in a Girl with Coffin-Siris Syndrome	2
Contents Vol. 15, 2024	2
<b><i>KMT2B</i></b>-Related Dystonia: Challenges in Diagnosis and Treatment	2
Expanding the Phenotypic Spectrum of <b><i>HIVEP2</i></b>-Related Intellectual Disability: Description of Two Portuguese Patients and Review of the Literature	2
A Novel Variant in the Cyto-Tail of SMO Gene Underlying Isolated Postaxial Polydactyly	2
Clinical and Molecular Cytogenetic Characterization of 2 Sibling Cases with 17q25 Duplication due to Unbalanced Translocation	2
Phenotypic Delineation of Combined Oxidative Phosphorylation Deficiency-12: Clinical Features of 2 Patients	2
Erratum	2
Pre- and Postnatal Characterization of Autosomal Recessive <b><i>KIDINS220</i></b>-Associated Ventriculomegaly	2
Diagnostic Gene Panel Testing in (Non)-Syndromic Patients with Cleft Lip, Alveolus and/or Palate in the Netherlands	2
A Missense Pathogenic Variant in a Conserved Region of CNTNAP2 Is Associated with Obesity, Seizures, and Language Impairment in a Pakistani Family	2
The Opportunities and Challenges in the Molecular Mechanism Research of Congenital Heart Disease: A Review	1
Front & Back Matter	1
Clinical and Biochemical Analysis of Glutamate-Cysteine Ligase Deficiency Presented with Late-Onset Spinocerebellar Ataxia and Hemolytic Anemia	1
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
A Cockayne-Syndrome-Like Phenotype with a Homozygous Truncating <i>UVSSA </i>Variant: Might This Be a New Cause?	1
First Co-Occurrence of Griscelli Syndrome Type 2 and Neurofibromatosis Type 1	1
Clinical and Molecular Findings in 17 Patients with Cornelia de Lange Syndrome: Four Novel Variants and an ANKRD11 gene variant	1
Delving into the Genetic Causes of Language Impairment in a Case of Partial Deletion of NRXN1	1
Dandy-Walker Malformation in a Girl with DDX3X-Related Intellectual Disability	1
Detecting a Novel <i>NOTCH3</i> Variant in Patients with Suspected CADASIL: A Single Center Study	1
Case Report of Two Siblings Diagnosed with Osteogenesis Imperfecta Type XV with a New Mutation in the WNT1 Gene and Review of the Literature	1
Co-Occurrence of Variants in 3 Genes in a Patient with Congenital Skeletal Dysplasia and Cardiac Anomalies: Diagnostic Challenge Posed by a Blended Phenotype	1
Coexistence of Rare Genetic Disorders in a Consanguineous Family: Case Study of KLHL24-Related Hypertrophic Cardiomyopathy and Char Syndrome	1
Diverse Clinical Manifestations of Cardiofaciocutaneous Syndrome Type 3 in Two Patients from South East Asia	1
A New Case with Weaver Syndrome: Delineating Natural Course and Growth Pattern, Further Clarifying Clinical Phenotype	1
Pterin Profiling in Serum, Dried Blood Spot, and Urine Samples Using LC-MS/MS in Patients with Inherited Hyperphenylalaninemia	1
Front & Back Matter	1
A Novel Premature Termination Codon Mutation in TRAPPC2 is associated with X-linked Spondyloepiphyseal Dysplasia Tarda	1
Front & Back Matter	1
Delineating the Disease Boundaries: Homozygous <i>CDC14A</i> Variants Underlying Nonsyndromic Hearing Loss and Hearing Impairment Infertile Male Syndrome	1
Cerebellar Hypoperfusion in Two Patients with Cornelia de Lange Syndrome with Novel NIPBL Variants	1
Co-Occurrence of Pallister-Killian Syndrome and Burkitt Lymphoma in a Patient with Near-Normal Neurocognitive Development	1

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	1
First Patient Diagnosed as Feingold Syndrome Type 2 with Alport Syndrome and Review of the Current Literature	1
Recurrent Mutation (p.Arg718Pro) in the COMP Gene with Clinical Heterogeneity of Pseudoachondroplasia	1
Homozygous Val6Gly Variation in PRDM5 Gene Causing Brittle Cornea Syndrome: A New Turkish Case	1
Front & Back Matter	1
Association of MicroRNA-146a-5p Polymorphism with Cognitive Impairment in Adolescents with Depressive Disorder	1
Discovery of a Novel CUL3 Variant: Unveiling Epilepsy and Newly Associated Dysmorphic Traits in a Turkish Patient	1
ALG1-CDG: A Patient with a Mild Phenotype and Literature Review	1
Ellis-Van Creveld Syndrome with Severe Mitral Valve Insufficiency Caused by a Homozygous Intragenic Deletion of the EVC Gene	1
Coexistence of Megaconial Congenital Muscular Dystrophy and Cystinuria: Mimicking Hypotonia-Cystinuria Syndrome	1
PACS2, PACS1, and VACTERL: A Clinical Overlap	1
Front & Back Matter	1
Clinical Variability of Shashi-Pena Syndrome: A Novel ASXL2 Variant Associated with Overgrowth and Minor Neurodevelopmental Features	1
Homozygous Paternally Inherited <i>ASPA</i> Variant in a Patient with Canavan Disease	1
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome Caused by Truncating Mutations in the Prg4 Gene: Case Series and Literature Review	1
Sequence Variants in the <i>WNT10B</i> Underlying Non-Syndromic Split-Hand/Foot Malformation	1
An Atypical Presentation of Mevalonate Kinase Deficiency in Response to Colchicine Treatment	1
A Case of Short Stature Caused by a Mutation in the ACAN Gene	1
Mutated Transcripts of ZEB2 Do Not Undergo Nonsense-Mediated Decay in Mowat-Wilson Syndrome	1
Whole Exome Sequencing of a Multiplex Family of Indian Origin Identifies Variants in the RAI1 and FLII Genes within the 17p11.2 Region in Siblings with Autism and Smith Magenis Syndrome	1
Homozygous PGAP2 mutation cause hyperphosphatasia with mental retardation syndrome-3 (HPMRS3): Genetic and clinical evaluation of the ultra rare inherited glycosylphosphatidylinositol (GPI) biosynthes	1
A Novel Splice Site Variant in <i>KLHL40</i> Gene in Multiple Affected NEM8 Family Members Who Present Phenotypic Variability	1
Sequence Variants in MEGF8 and GJA1 Underlying Syndactyly	1