OOIR: Observatory of International Research

Papers

(The TQCC of Molecular Syndromology is 2. 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 2021-11-01 to 2025-11-01.)

Article	Citations
Familial Hyperekplexia Caused by a Novel Homozygous SLC6A5 Variant: A Case Report	22
Novel Pathogenic Variant (c.1171A>T) in <b><i>PHF21A</i></b> in a Female with Intellectual Disability and Craniofacial Anomalies	12
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	10
Growth Hormone Deficiency due to p.(Gln467Argfs*64) Mutation in the <b><i>ARID1B</i></b> Gene in a Girl with Coffin-Siris Syndrome	9
Co-Occurrence of Myotonic Dystrophy Type 1 and Limb-Girdle Muscular Dystrophy Type 2B: A Case Report	9
Acknowledgement to Reviewers	9
Findings in Chromosomal Microarray Analysis during Prenatal Diagnosis in High-Risk Individuals	8
Microdeletion 1p32p31 Presenting with Moyamoya Disease and Incomplete Hippocampal Inversion	8
A Rare Treatable Cause of Cardiomyopathy: Primary Carnitine Deficiency	6
CLN3-Associated NCL Case with a Preliminary Diagnosis of Niemann Pick Type C	6
D-bifunctional protein deficiency type III: Two Turkish cases and a novel HSD17B4 gene variant	5
First Patient Diagnosed as Feingold Syndrome Type 2 with Alport Syndrome and Review of the Current Literature	5
Expanding the Phenotypic Spectrum of <b><i>HIVEP2</i></b>-Related Intellectual Disability: Description of Two Portuguese Patients and Review of the Literature	5
Diverse Clinical Manifestations of Cardiofaciocutaneous Syndrome Type 3 in Two Patients from South East Asia	5
Dandy-Walker Malformation in a Girl with DDX3X-Related Intellectual Disability	5
A Rare Case of Bardet-Biedl Syndrome Caused by a Heterozygous Point Variant in BBS7 and a CNV Involved BBS7	5
A novel GATAD2B frameshift variant causes GATAD2B-associated neurodevelopmental disorder with camptodactyly	5
Hereditary Spastic Paraplegy Associated with the AP4S1 Gene: A Case Series Highlighting Diagnostic Pitfalls and Phenotypic Variability	5
Two-Compound Heterozygous Deletions Affecting TUBGCP6 in a Patient with Microcephaly and Ocular Abnormalities and in an Unborn Sibling with Abnormal Sulcation	4
Hydrocephalus and Growth Retardation: A Fetal RNU4ATAC-opathy Missed by Whole-Exome Sequencing	4
A Novel De Novo Exceptional Complex Chromosomal Rearrangement Involving 5 Chromosomes Resulting in Neurodevelopmental Delay and Dysmorphism	4
Kabuki Syndrome and Charcot-Marie-Tooth Disease Co-Occurrence: Unique Case with Novel Variant	4
Pure Interstitial Trisomy 11q Arising from a Nonrecurrent 11q13.1q22.3 Mosaic Intrachromosomal Duplication in a Patient with Craniofacial Dysmorphism and Genital Anomalies	4
Mutated Transcripts of ZEB2 Do Not Undergo Nonsense-Mediated Decay in Mowat-Wilson Syndrome	4
Many Faces of Diencephalic-Mesencephalic Junction Dysplasia Syndrome with <i>GSX2</i> and <i>PCDH12</i> Variants	4

A Novel Intragenic Duplication of CREBBP in Rubinstein-Taybi Syndrome: A Case Report Expanding the Genotype-Phenotype Spectrum	4
A New Case of Nager Syndrome as a Rare Cause of Acrofacial Dysostosis	4
Dual Diagnosis of Trichohepatoenteric Syndrome and Lipoid Proteinosis in a Turkish Child	4
Rare Transient Infantile Hypertriglyceridemia with Hypoglycemia and Insulin Resistance Caused by a Novel <b><i>GPD1</i></b> Mutation	4
Ophthalmological and Orthoptic Findings in Down Syndrome: Is Genotype-Phenotype Correlation Possible?	4
Prenatal Diagnosis of Intragenic HNF1B Variant-Associated Renal Disease by Exome Sequencing	4
A Novel Homozygous Variant in CPLANE1 Gene in a Patient with Developmental Deficits	4
Identification of the genetic causes of inherited diseases in a North African biobank: implications for genetic diagnosis	4
Evaluation of Cardiomyopathy-Related Target Genes by Next-Generation Sequencing Method and Investigation of the Phenotype-Genotype Relationship	4
Genotype-phenotype analysis and new clinical findings in a series of 24 patients presenting with Noonan syndrome and related disorders	4
The First Congenital Disorders of Glycosylation Patient (Fetus) with Homozygous COG5 c.95T>G Variant	3
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	3
A Novel PNPLA2 Variant in a Female Patient with Neutral Lipid Storage Disease with Myopathy and Hypogonadotropic Hypogonadism	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
A Single-Center Genotype-Phenotype Correlation Cohort Study of Hyperphenylalaninemia Patients: Genetic Analysis as a Deterministic Tool for Treatment Consistency	3
C.655C>T Variant of Sepiapterin Reductase Deficiency: Genetic and Bioinformatic Analysis	3
A Mild Skeletal Dysplasia Caused by a Biallelic Missense Variant in the SLC35D1 Gene	3
Front & Back Matter	3
Clinical and Molecular Cytogenetic Characterization of 2 Sibling Cases with 17q25 Duplication due to Unbalanced Translocation	3
A Novel Splice Site Variant in <i>KLHL40</i> Gene in Multiple Affected NEM8 Family Members Who Present Phenotypic Variability	3
Pre- and Postnatal Characterization of Autosomal Recessive <b><i>KIDINS220</i></b>-Associated Ventriculomegaly	3
Erratum	3
Extensive, 3.8 Mb-Sized Deletion of 22q12 in a Patient with Bilateral Schwannoma, Intellectual Disability, Sensorineural Hearing Loss, and Epilepsy	3
Presentation of Pallister-Hall-Like Syndrome in a Girl with a Homozygous Rare Variant in the SMO Gene	3
Genetic Landscape of <b><i>SCN1A</i></b> Variants in a Turkish Cohort with GEFS+ Spectrum and Dravet Syndrome	3
Triosephosphate Isomerase Deficiency: E105D Mutation in Unrelated Patients and Review of the Literature	3
Clinical and Genetic Characteristics of Patients with Unexplained Intellectual Disability/Developmental Delay without Epilepsy	3
A Novel NDUFV2 Variant in an Asymptomatic Adolescent Girl with Progressive Cavitating Leukoencephalopathy	3
Clinical Variability of Shashi-Pena Syndrome: A Novel ASXL2 Variant Associated with Overgrowth and Minor Neurodevelopmental Features	3
Clinical and Biochemical Analysis of Glutamate-Cysteine Ligase Deficiency Presented with Late-Onset Spinocerebellar Ataxia and Hemolytic Anemia	3
A Novel KMT5B Frameshift Variant Presenting with Autism and Psychiatric Features: Intra-Familial Phenotypic Variation – A Case Report	3
Comparative Small RNA Sequencing Reveals Candidate Functional miRNAs in Nonketotic Hyperglycinemia	3
Sepiapterin Reductase Deficiency Misdiagnosed as Neurological Sequelae of Meningitis	3
A Homozygous Missense Variant in <i>HSD17B4</i> Identified in Two Different Families	3
SBIDDS Syndrome: A New Spoke of the Epigenetic Machinery Wheel	3
Novel Mutation in the <i>HSD17B10</i> Gene Accompanied by Dysmorphic Findings in Female Patients	3
Dicentric Recombinant Chromosome 18 due to Maternal Paracentric Inversion Analyzed by Array CGH	3
Genetics of Mitochondrial Aminoacyl-tRNA Synthetases Associated with Sensorineural Hearing Loss	3
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	3
The Opportunities and Challenges in the Molecular Mechanism Research of Congenital Heart Disease: A Review	3
Sequence Variants in MEGF8 and GJA1 Underlying Syndactyly	3
Investigation of Genetic Changes in Three Families with Bipolar Disease	3
Classification of Brain Magnetic Resonance Imaging Abnormalities and Spectrum of Neurological Findings in a Cohort with Copy Number Variation-Related Disorders	2
Expanding the Phenotypic and Genotypic Spectrum of Weaver Syndrome: A Missense Variant of the <i>EZH2</i> Gene	2
Microdeletion 3q13.2q21.2 in a Patient Previously Diagnosed with MOMO Syndrome	2
First Report of a Novel ZNF462 Variant Linked to Weiss-Kruszka Syndrome and Congenital Diaphragmatic Hernia: Insights into Potential Additional Malformations	2
Genotype-Phenotype Correlation in Lipoid Proteinosis: 15 Cases from Turkiye	2
Innovating Therapies for Down Syndrome: An International Virtual Conference of the T21 Research Society	2
A Novel Compound Heterozygous CYP27A1 Variant in Cerebrotendinous Xanthomatosis: A Case Report from a Non-Consanguineous Family	2
SLC26A2/DTDST Spectrum: A Cohort of 12 Patients Associated with a Comprehensive Review of the Genotype-Phenotype Correlation	2

Chromosomal Microarray Analysis as a Diagnostic Tool in Congenital Heart Diseases	2
Deep White Matter Cysts in a Patient with Aicardi-Goutières Syndrome and <b><i>SAMHD1</i></b> Variants	2
Plastic Bronchitis in Noonan Syndrome: Further Evidence Suggesting a Higher Risk of Lymphatic Abnormalities in Individuals Harboring Variants in PTPN11 Residue p.Phe285	2
Front & Back Matter	2
Expanding the Genetic Landscape of RASopathies: Significance of Including NF1 in Targeted Panels	2
Mosaicism of a Truncating Variant of CASK Causes Congenital Heart Disease and Neurodevelopmental Disorder	2
A Novel Premature Termination Codon Mutation in TRAPPC2 Is Associated with X-Linked Spondyloepiphyseal Dysplasia Tarda	2
Two Moroccan Families with Emery-Dreifuss Muscular Dystrophy and Report of a Novel LMNA Pathogenic Variant	2
Copy Number Variations in Hereditary Spastic Paraplegia-Related Genes: Evaluation of an Iranian Hereditary Spastic Paraplegia Cohort and Literature Review	2
Autism Spectrum Disorder in Two Unrelated Patients with Homozygous Variants in Either ALG8 or ALG11	2
Front & Back Matter	2
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	2
Delineation of a Phenotype Caused by a <b><i>KAT6B</i></b> Missense Variant Not Resembling Say-Barber-Biesecker-Young-Simpson and Genitopatellar Syndromes	2
Severe Antenatal Hypertrophic Cardiomyopathy Secondary to ACAD9-Related Mitochondrial Complex I Deficiency	2
A Rare Contiguous Gene Deletion Leading to Trichothiodystrophy Type 4 and Glutaric Aciduria Type 3	2
Clinical and Molecular Findings in 17 Patients with Cornelia de Lange Syndrome: Four Novel Variants and an ANKRD11 Gene Variant	2
Out-of-frame transcript and in-frame deletion owing to a novel splice mutation of COL2A1 (c.1266+2T>A) in an adult with Kniest dysplasia: A case report	2
Prenatal Silver-Russell Syndrome in a Chinese Family Identified by Non-Invasive Prenatal Testing	2
Meckel–Gruber syndrome due to homozygous c.16del (p.Leu6SerfsTer15) variant in the TCTN1: first case from Türkiye	2