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 2020-11-01 to 2024-11-01.)

Article	Citations
Prevalence and Phenotypic Impact of Robertsonian Translocations	24
Lymphatic Abnormalities in Noonan Syndrome Spectrum Disorders: A Systematic Review	23
Genetic Mutations Associated with Pierre Robin Syndrome/Sequence: A Systematic Review	23
Homozygous Missense Variation in <b><i>PNPLA8</i></b> Causes Prenatal-Onset Severe Neurodegeneration	11
Asprosin, a C-Terminal Cleavage Product of Fibrillin 1 Encoded by the <b><i>FBN1</i></b> Gene, in Health and Disease	10
Wiedemann-Steiner Syndrome as a Differential Diagnosis of Cornelia de Lange Syndrome Using Targeted Next-Generation Sequencing: A Case Report	10
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome Resembling Juvenile Idiopathic Arthritis: A Single-Center Experience from Southern Turkey	10
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	8
Identification of the TTC26 Splice Variant in a Novel Complex Ciliopathy Syndrome with Biliary, Renal, Neurological, and Skeletal Manifestations	8
Building the Future Therapies for Down Syndrome: The Third International Conference of the T21 Research Society	7
Clinical Features of Okur-Chung Neurodevelopmental Syndrome: Case Report and Literature Review	7
Variants in the <b><i>PNPLA1</i></b> Gene in Families with Autosomal Recessive Congenital Ichthyosis Reveal Clinical Significance	7
Differential Expression of Long Noncoding RNAs in Patients with Coronary Artery Disease	7
SLC26A2/DTDST Spectrum: A Cohort of 12 Patients Associated with a Comprehensive Review of the Genotype-Phenotype Correlation	6
ALG1-CDG: A Patient with a Mild Phenotype and Literature Review	6
Multicentric Carpotarsal Osteolysis Syndrome in a Mother and Daughter with a <b><i>MAFB</i></b> Missense Variant and Natural History of the Disease	6
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
Biallelic Novel USP53 Splicing Variant Disrupting the Gene Function that Causes Cholestasis Phenotype and Review of the Literature	6
Clinical Implications of Chromosome 16 Copy Number Variation	6
<b><i>FIG4</i></b>-Associated Yunis-Varon Syndrome: Identification of a Novel Missense Variant	6
Kabuki Syndrome: Identification of Two Novel Variants in <b><i>KMT2D</i></b> and <b><i>KDM6A</i></b>	5
Clinical and Genetic Characteristics of Patients with Unexplained Intellectual Disability/Developmental Delay without Epilepsy	5
A Rare Contiguous Gene Deletion Leading to Trichothiodystrophy Type 4 and Glutaric Aciduria Type 3	5
First Report of Two Egyptian Patients with Desbuquois Dysplasia due to Homozygous <b><i>CANT1</i></b> Mutations	4
Goldberg-Shprintzen Syndrome Associated with a Novel Variant in the <b><i>KIFBP</i></b>Gene	4

Genetic Characterization of Hereditary Cancer Syndromes Based on Targeted Next-Generation Sequencing	4
Co-Occurrence of Pallister-Killian Syndrome and Burkitt Lymphoma in a Patient with Near-Normal Neurocognitive Development	4
Pure Distal 7q Duplication: Describing a Macrocephalic Neurodevelopmental Syndrome, Case Report and Review of the Literature	4
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	4
Description of Phenotypic Heterogeneity in a GJC2-Related Family and Literature Review	4
Two Siblings with Kaufman Oculocerebrofacial Syndrome Resembling Oculoauriculovertebral Spectrum	4
Severe Antenatal Hypertrophic Cardiomyopathy Secondary to ACAD9-Related Mitochondrial Complex I Deficiency	4
Sensenbrenner Syndrome Presenting with Severe Anorexia, Failure to Thrive, Chronic Kidney Disease and Angel-Shaped Middle Phalanges in Two Siblings	4
Pharmacological Treatment of Severe Breathing Abnormalities in a Case of HNRNPU Epileptic Encephalopathy	4
Aicardi-Goutières Syndrome due to a SAMHD1 Mutation Presenting with Deep White Matter Cysts	4
Two New Cases of Primary Microcephaly with Neuronal Migration Defect Caused by Truncating Mutations in the <b><i>ASPM</i></b> Gene	4
Neuroimaging Findings in Patients with <b><i>EBF3</i></b> Mutations: Report of Two Cases	4
Persistent Hyperplastic Primary Vitreous with Microphthalmia and Coloboma in a Patient with Okur-Chung Neurodevelopmental Syndrome	4
<b><i>KMT2B</i></b>-Related Dystonia: Challenges in Diagnosis and Treatment	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
Biallelic Mutations in <b><i>DNAJB11</i></b>are Associated with Prenatal Polycystic Kidney Disease in a Turkish Family	3
Main Physical Features, Echocardiographic and Renal Ultrasonographic Findings of Turner Syndrome in 107 Pediatric Patients	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
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	3
Novel Findings in Floating-Harbor Syndrome and a Mini-Review of the Literature	3
Further Expansion of the Mutational Spectrum of 3MC Syndrome: A Novel <b><i>MASP1</i></b> Pathogenic Variant in a Male Patient	3
Intracranial Calcification Associated with 3-Methylcrotonyl-CoA Carboxylase Deficiency	3
Prenatal Silver-Russell Syndrome in a Chinese Family Identified by Non-Invasive Prenatal Testing	3
CLN3-Associated NCL Case with a Preliminary Diagnosis of Niemann Pick Type C	3
Pre- and Postnatal Characterization of Autosomal Recessive <b><i>KIDINS220</i></b>-Associated Ventriculomegaly	3
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
Interstitial Deletion of 2q22.2q22.3 Involving the Entire <b><i>ZEB2</i></b> Gene in a Case of Mowat-Wilson Syndrome	2
Typical Face, Developmental Delay, and Hearing Loss in a Patient with 3M Syndrome: The Co-Occurrence of Two Rare Conditions	2
Coexistence of Megaconial Congenital Muscular Dystrophy and Cystinuria: Mimicking Hypotonia-Cystinuria Syndrome	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	2
Two Patients Diagnosed as Succinate Dehydrogenase Deficiency: Case Report	2
The Role of Copy Number Variations and FHIT Gene on Phenotypic Characteristics of Cases Diagnosed with Autism Spectrum Disorder	2
Co-Occurring Atypical Galactosemia and Wilson Disease	2
An Apparently Balanced Complex Chromosome Rearrangement Involving Seven Breaks and Four Chromosomes in a Healthy Female and Segregation/Recombination in Her Affected Son	2
Spondylometaepiphyseal Dysplasia Short Limb-Abnormal Calcification Type in Turkish Patients Reveals a Novel Mutation and New Features	2
A Frameshift Variant in <b><i>KIAA0825</i></b> Causes Postaxial Polydactyly	2
A Second Family with Myhre Syndrome Caused by the Same Recurrent SMAD4 Pathogenic Variation (p.Arg496Cys)	2
Gene Ontology Enrichment Analysis of Renal Agenesis: Improving Prenatal Molecular Diagnosis	2
Sequence Variants in MEGF8 and GJA1 Underlying Syndactyly	2
Balanced at First Sight, but in Reality out of Balance	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
Clinical and Molecular Update on the Fourth Reported Family with Hamamy Syndrome	2
Homozygous Missense Variant in the N-Terminal Region of ANK3 Gene Is Associated with Developmental Delay, Seizures, Speech Abnormality, and Aggressive Behavior	2
Molecular Diagnosis of Limb-Girdle Muscular Dystrophy Using Next-Generation Sequencing Panels	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
A Novel Homozygous <i>ACBD5</i> Variant in an Emerging Peroxisomal Disorder Presenting with Retinal Dystrophy and a Review of the Literature	2
Prenatal Diagnosis of Acromelic Frontonasal Dysostosis	2
Dual Diagnosis of Trichohepatoenteric Syndrome and Lipoid Proteinosis in a Turkish Child	2
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	2

A Case with NAD(P)HX Dehydratase (NAXD) Deficiency: A Newly Defined Mutation in a Novel Neurodegenerative Disorder	2
Diverse Clinical Manifestations of Cardiofaciocutaneous Syndrome Type 3 in Two Patients from South East Asia	2
Duplication of 12q24.21q24.33 in a Girl with Epilepsy, Expanding the Phenotype	2
A Case of Combined Oxidative Phosphorylation Deficiency 35 Associated with a Novel Missense Variant of the <b><i>TRIT1</i></b> Gene	2
<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	2
Diagnostic Gene Panel Testing in (Non)-Syndromic Patients with Cleft Lip, Alveolus and/or Palate in the Netherlands	2
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	2
Autosomal Recessive Primary Microcephaly (MCPH) and Novel Pathogenic Variants in <b><i>ASPM</i></b> and <b><i>WDR62</i></b> Genes	2
Nonlethal Raine Syndrome in a Newborn Boy Caused by a Novel <b><i>FAM20C</i></b> Variant	2