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 2021-05-01 to 2025-05-01.)

Article	Citations
Acknowledgement to Reviewers	31
Growth Hormone Deficiency due to p.(Gln467Argfs*64) Mutation in the <b><i>ARID1B</i></b> Gene in a Girl with Coffin-Siris Syndrome	15
Novel Pathogenic Variant (c.1171A>T) in <b><i>PHF21A</i></b> in a Female with Intellectual Disability and Craniofacial Anomalies	9
Microdeletion 1p32p31 Presenting with Moyamoya Disease and Incomplete Hippocampal Inversion	9
A Rare Treatable Cause of Cardiomyopathy: Primary Carnitine Deficiency	9
Findings in chromosomal microarray analysis during prenatal diagnosis in high-risk individuals	7
Co-Occurrence of Myotonic Dystrophy Type 1 and Limb-Girdle Muscular Dystrophy Type 2B: A Case Report	7
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	6
D-bifunctional protein deficiency type III: Two Turkish cases and a novel HSD17B4 gene variant	6
A Novel <b><i>ATM</i></b> Gene Mutation Affecting Splicing in an Ataxia-Telangiectasia Patient	6
A novel GATAD2B frameshift variant causes GATAD2B-associated neurodevelopmental disorder with camptodactyly	6
First Patient Diagnosed as Feingold Syndrome Type 2 with Alport Syndrome and Review of the Current Literature	5
Ophthalmological and Orthoptic Findings in Down Syndrome: Is Genotype-Phenotype Correlation Possible?	4
Dual Diagnosis of Trichohepatoenteric Syndrome and Lipoid Proteinosis in a Turkish Child	4
CLN3-Associated NCL Case with a Preliminary Diagnosis of Niemann Pick Type C	4
Dandy-Walker Malformation in a Girl with DDX3X-Related Intellectual Disability	4
Expanding the Phenotypic Spectrum of <b><i>HIVEP2</i></b>-Related Intellectual Disability: Description of Two Portuguese Patients and Review of the Literature	4
Kosaki Overgrowth Syndrome: Report of a Family with a Novel PDGFRB Variant	4
Hydrocephalus and Growth Retardation: A Fetal RNU4ATAC-opathy Missed by Whole-Exome Sequencing	4
Diverse Clinical Manifestations of Cardiofaciocutaneous Syndrome Type 3 in Two Patients from South East Asia	4
Prenatal Diagnosis of Intragenic HNF1B Variant-Associated Renal Disease by Exome Sequencing	4
Many Faces of Diencephalic-Mesencephalic Junction Dysplasia Syndrome with <i>GSX2</i> and <i>PCDH12</i> Variants	4
Kabuki Syndrome and Charcot-Marie-Tooth Disease Co-Occurrence: Unique Case with Novel Variant	4
Mutated Transcripts of ZEB2 Do Not Undergo Nonsense-Mediated Decay in Mowat-Wilson Syndrome	4
Two-Compound Heterozygous Deletions Affecting TUBGCP6 in a Patient with Microcephaly and Ocular Abnormalities and in an Unborn Sibling with Abnormal Sulcation	4

A Novel Homozygous Variant in CPLANE1 Gene in a Patient with Developmental Deficits	3
Evaluation of Cardiomyopathy-Related Target Genes by Next-Generation Sequencing Method and Investigation of the Phenotype-Genotype Relationship	3
Pure Interstitial Trisomy 11q Arising from a Nonrecurrent 11q13.1q22.3 Mosaic Intrachromosomal Duplication in a Patient with Craniofacial Dysmorphism and Genital Anomalies	3
A Mild Skeletal Dysplasia Caused by a Biallelic Missense Variant in the SLC35D1 Gene	3
Multicentric Carpotarsal Osteolysis Syndrome in a Mother and Daughter with a <b><i>MAFB</i></b> Missense Variant and Natural History of the Disease	3
Clinical and Genetic Characteristics of Patients with Unexplained Intellectual Disability/Developmental Delay without Epilepsy	3
Genotype-phenotype analysis and new clinical findings in a series of 24 patients presenting with Noonan syndrome and related disorders	3
A Novel De Novo Exceptional Complex Chromosomal Rearrangement Involving 5 Chromosomes Resulting in Neurodevelopmental Delay and Dysmorphism	3
Novel Mutation in the <i>HSD17B10</i> Gene Accompanied by Dysmorphic Findings in Female Patients	3
C.655C>T Variant of Sepiapterin Reductase Deficiency: Genetic and Bioinformatic Analysis	3
Genetics of mitochondrial aminoacyl-tRNA synthetases associated with sensorineural hearing loss	3
Triosephosphate Isomerase Deficiency: E105D Mutation in Unrelated Patients and Review of the Literature	3
A New Case of Nager Syndrome as a Rare Cause of Acrofacial Dysostosis	3
Rare Transient Infantile Hypertriglyceridemia with Hypoglycemia and Insulin Resistance Caused by a Novel <b><i>GPD1</i></b> Mutation	3
Dicentric Recombinant Chromosome 18 due to Maternal Paracentric Inversion Analyzed by Array CGH	3
Genetic Landscape of <b><i>SCN1A</i></b> Variants in a Turkish Cohort with GEFS+ Spectrum and Dravet Syndrome	3
Extensive, 3.8 Mb-Sized Deletion of 22q12 in a Patient with Bilateral Schwannoma, Intellectual Disability, Sensorineural Hearing Loss, and Epilepsy	3
Innovating Therapies for Down Syndrome: An International Virtual Conference of the T21 Research Society	2
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	2
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	2
The First Congenital Disorders of Glycosylation Patient (Fetus) with Homozygous COG5 c.95T>G Variant	2
Pre- and Postnatal Characterization of Autosomal Recessive <b><i>KIDINS220</i></b>-Associated Ventriculomegaly	2
A Patient with Recurrent Severe Hypoglycemic Attacks and Mitochondrial Complex III Deficiency, Nuclear Type 3: a Novel <b><i>UQCRB</i></b> Variant	2
A Homozygous Missense Variant in <i>HSD17B4</i> Identified in Two Different Families	2
Erratum	2
Clinical Variability of Shashi-Pena Syndrome: A Novel ASXL2 Variant Associated with Overgrowth and Minor Neurodevelopmental Features	2
Severe Antenatal Hypertrophic Cardiomyopathy Secondary to ACAD9-Related Mitochondrial Complex I Deficiency	2
Mosaicism of a Truncating Variant of CASK Causes Congenital Heart Disease and Neurodevelopmental Disorder	2
A Novel Splice Site Variant in <i>KLHL40</i> Gene in Multiple Affected NEM8 Family Members Who Present Phenotypic Variability	2
Clinical and Biochemical Analysis of Glutamate-Cysteine Ligase Deficiency Presented with Late-Onset Spinocerebellar Ataxia and Hemolytic Anemia	2
Clinical and Molecular Cytogenetic Characterization of 2 Sibling Cases with 17q25 Duplication due to Unbalanced Translocation	2
Sepiapterin Reductase Deficiency Misdiagnosed as Neurological Sequelae of Meningitis	2
Presentation of Pallister-Hall-Like Syndrome in a Girl with a Homozygous Rare Variant in the SMO Gene	2
SBIDDS Syndrome: A New Spoke of the Epigenetic Machinery Wheel	2
A Novel Premature Termination Codon Mutation in TRAPPC2 is associated with X-linked Spondyloepiphyseal Dysplasia Tarda	2
Clinical and Molecular Findings in 17 Patients with Cornelia de Lange Syndrome: Four Novel Variants and an ANKRD11 gene variant	2
Microdeletion 3q13.2q21.2 in a Patient Previously Diagnosed with MOMO Syndrome	2
Expanding the Genetic Landscape of RASopathies: Significance of Including NF1 in Targeted Panels	2
Investigation of Genetic Changes in Three Families with Bipolar Disease	2
The Opportunities and Challenges in the Molecular Mechanism Research of Congenital Heart Disease: A Review	2
Front & Back Matter	2
A Novel NDUFV2 Variant in an Asymptomatic Adolescent Girl with Progressive Cavitating Leukoencephalopathy	2
A Patient with a Novel <b><i>RARS2</i></b> Variant Exhibiting Liver Involvement as a New Clinical Feature and Review of the Literature	2
A Novel PNPLA2 Variant in a Female Patient with Neutral Lipid Storage Disease with Myopathy and Hypogonadotropic Hypogonadism	2
Sequence Variants in MEGF8 and GJA1 Underlying Syndactyly	2
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	2
A Rare Contiguous Gene Deletion Leading to Trichothiodystrophy Type 4 and Glutaric Aciduria Type 3	2
GENOTYPE PHENOTYPE CORRELATION IN LIPOID PROTEINOSIS: 15 cases from Turkey	2
A Missense Pathogenic Variant in a Conserved Region of CNTNAP2 Is Associated with Obesity, Seizures, and Language Impairment in a Pakistani Family	1
Exome Sequencing Identifies a Novel <b><i>SIN3A</i></b> Variant in a Patient with Witteveen-Kolk Syndrome	1

Ocular Manifestations of Hurler-Scheie Syndrome: Recurrence of Host Disease in the Corneal Transplant	1
Spondylometaepiphyseal Dysplasia Short Limb-Abnormal Calcification Type in Turkish Patients Reveals a Novel Mutation and New Features	1
Co-Occurrence of Pallister-Killian Syndrome and Burkitt Lymphoma in a Patient with Near-Normal Neurocognitive Development	1
Plastic Bronchitis in Noonan Syndrome: Further Evidence Suggesting a Higher Risk of Lymphatic Abnormalities in Individuals Harboring Variants in PTPN11 Residue p.Phe285	1
A Cockayne-Syndrome-Like Phenotype with a Homozygous Truncating <i>UVSSA </i>Variant: Might This Be a New Cause?	1
Autism Spectrum Disorder in Two Unrelated Patients with Homozygous Variants in Either ALG8 or ALG11	1
Copy Number Variations in Hereditary Spastic Paraplegia-Related Genes: Evaluation of an Iranian Hereditary Spastic Paraplegia Cohort and Literature Review	1
Front & Back Matter	1
A Novel Variant in the Cyto-Tail of SMO Gene Underlying Isolated Postaxial Polydactyly	1
<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	1
Novel Variant in the USP9X Gene Is Associated with Congenital Heart Disease in a Male Patient: A Case Report and Literature Review	1
A Witteveen-Kolk Syndrome Patient with Reflux Disease and a de novo Deletion of the SIN3A Gene	1
22q11 Copy Number Variations in a Brazilian Cohort of Children with Congenital Heart Disorders	1
Kniest Dysplasia without Ocular and Auditory Abnormalities in a Boy of 12 Months	1
Prenatal Diagnosis of a de novo 2q14.3-q22.1 Deletion with Complex Chromosomal Rearrangement	1
Expanding the p.(Arg85Trp) Variant-Specific Phenotype of HNF4A: Features of Glycogen Storage Disease, Liver Cirrhosis, Impaired Mitochondrial Function, and Glomerular Changes	1
Clinical And Molecular Evaluation of Beckwith-Wiedemann Syndrome With The BWSICS Score	1
Deep White Matter Cysts in a Patient with Aicardi-Goutières Syndrome and <b><i>SAMHD1</i></b> Variants	1
Dysmorphic Findings in SAHH Deficiency with a Novel Variant in the AHCY Gene	1
Novel Cranial Imaging Findings and a Splice-Site Variant in a Patient with Tyrosinemia Type III, and a Summary of Published Cases	1
<i>TPP1</i> Variants in Iranian patients: A Novel Pathogenic Homozygous Variant Causing Neuronal Ceroid Lipofuscinosis 2	1
Front & Back Matter	1
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	1
Front & Back Matter	1
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	1
Currarino Syndrome in Two Moroccan Siblings with Inherited 7q36 Deletion due to Maternal t(7;21)(q36;p11)mat: A Case Report	1
Front & Back Matter	1
SLC26A2/DTDST Spectrum: A Cohort of 12 Patients Associated with a Comprehensive Review of the Genotype-Phenotype Correlation	1
Dyggve-Melchior-Clausen Syndrome Caused by a Novel Frameshift Variant in a Japanese Patient	1
Clinical Features of Okur-Chung Neurodevelopmental Syndrome: Case Report and Literature Review	1
Coexistence of Rare Genetic Disorders in a Consanguineous Family: Case Study of KLHL24-Related Hypertrophic Cardiomyopathy and Char Syndrome	1
Expanding Phenotype of SYT1-Related Neurodevelopmental Disorder: Case Report and Literature Review	1
Aicardi-Goutières Syndrome due to a SAMHD1 Mutation Presenting with Deep White Matter Cysts	1
Leigh Syndrome due to <i>MT-ATP6</i> Variants: A Case Presentation and the Review of the Literature	1
Expanding the Phenotypic and Genotypic Spectrum of Weaver Syndrome: A Missense Variant of the <i>EZH2</i> Gene	1
Acknowledgement to Reviewers	1
A Novel Truncating Variant in Sandestig-Stefanova Syndrome with Hydrocephalus	1
Front & Back Matter	1
Shifting the Focus of Molecular Syndromology from Individual Diagnoses to Outcome Analyses	1
The Methylation Status in the Chromosome 11p15.5 Region and Metabolic Disorders in Children with Syndromic and Nonsyndromic Intrauterine Growth Restriction	1
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	1
Triple-A Syndrome in Morocco: Founder Effect, Age Estimation of the <i>AAAS</i> c.1331+1G>A Variant, and Implications for Genetic Diagnosis	1
Meckel–Gruber syndrome due to homozygous c.16del (p.Leu6SerfsTer15) variant in the TCTN1: first case from Türkiye	1
A Unique Derivative Chromosome 4 with a Predominant 4p16.3 Microduplication Phenotype and a Literature Review	1
A New Case with Weaver Syndrome: Delineating Natural Course and Growth Pattern, Further Clarifying Clinical Phenotype	1
Classification of Brain Magnetic Resonance Imaging Abnormalities and Spectrum of Neurological Findings in a Cohort with Copy Number Variation-Related Disorders	1
Duplication of 12q24.21q24.33 in a Girl with Epilepsy, Expanding the Phenotype	1
Prenatal Silver-Russell Syndrome in a Chinese Family Identified by Non-Invasive Prenatal Testing	1
Delineation of a Phenotype Caused by a <b><i>KAT6B</i></b> Missense Variant Not Resembling Say-Barber-Biesecker-Young-Simpson and Genitopatellar Syndromes	1
Two Moroccan Families with Emery-Dreifuss Muscular Dystrophy and Report of a Novel LMNA Pathogenic Variant	1
Chromosomal Microarray Analysis as a Diagnostic Tool in Congenital Heart Diseases	1
A Report of Dual Presentations of Pseudo-TORCH Syndrome 1 and MCC2 Deficiency and Review of the Literature	1
Homozygous Intragenic Deletion in <i>WDR62</i> in Siblings with Primary Microcephaly	1
Autosomal Recessive Primary Microcephaly (MCPH) and Novel Pathogenic Variants in <b><i>ASPM</i></b> and <b><i>WDR62</i></b> Genes	1
Expanded Phenotypic Spectrum or Multiple Syndromes?	1
A Male Child with Infantile Epilepsy due to a Mosaic Missense Variant of PCDH19	1
Clinical and Radiological Profile of Nine Patients with Metachromatic Leukodystrophy	1
Erratum	1
A Novel HERC2 Variant in Two Siblings with Autosomal Recessive Intellectual Developmental Disorder-38 and Cardiomyopathy	1
A novel X-linked variant c.1772delG (p.G591fs*20) in IRS4 in two related patients with central hypothyroidism	1
What Can We Learn from the Parents of Children Affected with Mucopolysaccharidosis Type III-A in Israel?	1