Molecular Syndromology

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 2020-05-01 to 2024-05-01.)
ArticleCitations
Prevalence and Phenotypic Impact of Robertsonian Translocations20
Lymphatic Abnormalities in Noonan Syndrome Spectrum Disorders: A Systematic Review19
Genetic Mutations Associated with Pierre Robin Syndrome/Sequence: A Systematic Review19
Wiedemann-Steiner Syndrome as a Differential Diagnosis of Cornelia de Lange Syndrome Using Targeted Next-Generation Sequencing: A Case Report11
Homozygous Missense Variation in <b><i>PNPLA8</i></b> Causes Prenatal-Onset Severe Neurodegeneration8
Asprosin, a C-Terminal Cleavage Product of Fibrillin 1 Encoded by the <b><i>FBN1</i></b> Gene, in Health and Disease7
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.Gl7
Multicentric Carpotarsal Osteolysis Syndrome in a Mother and Daughter with a <b><i>MAFB</i></b> Missense Variant and Natural History of the Disease6
Clinical Features of Okur-Chung Neurodevelopmental Syndrome: Case Report and Literature Review6
Differential Expression of Long Noncoding RNAs in Patients with Coronary Artery Disease6
Variants in the <b><i>PNPLA1</i></b> Gene in Families with Autosomal Recessive Congenital Ichthyosis Reveal Clinical Significance6
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome Resembling Juvenile Idiopathic Arthritis: A Single-Center Experience from Southern Turkey6
Building the Future Therapies for Down Syndrome: The Third International Conference of the T21 Research Society6
A Recurrent Variant in <b><i>POLR1B</i></b>, c.3007C&#x3e;T; p.Arg1003Cys, Associated with Atresia of the External Canal and Microtia in Treacher Collins Syndrome Type 46
SLC26A2/DTDST Spectrum: A Cohort of 12 Patients Associated with a Comprehensive Review of the Genotype-Phenotype Correlation5
<b><i>FIG4</i></b>-Associated Yunis-Varon Syndrome: Identification of a Novel Missense Variant5
Clinical Implications of Chromosome 16 Copy Number Variation5
Identification of the TTC26 Splice Variant in a Novel Complex Ciliopathy Syndrome with Biliary, Renal, Neurological, and Skeletal Manifestations5
ALG1-CDG: A Patient with a Mild Phenotype and Literature Review4
Kabuki Syndrome: Identification of Two Novel Variants in <b><i>KMT2D</i></b> and <b><i>KDM6A</i></b>4
Pharmacological Treatment of Severe Breathing Abnormalities in a Case of HNRNPU Epileptic Encephalopathy4
Sensenbrenner Syndrome Presenting with Severe Anorexia, Failure to Thrive, Chronic Kidney Disease and Angel-Shaped Middle Phalanges in Two Siblings4
Biallelic Novel USP53 Splicing Variant Disrupting the Gene Function that Causes Cholestasis Phenotype and Review of the Literature4
Two Siblings with Kaufman Oculocerebrofacial Syndrome Resembling Oculoauriculovertebral Spectrum4
Co-Occurrence of Pallister-Killian Syndrome and Burkitt Lymphoma in a Patient with Near-Normal Neurocognitive Development4
Two New Cases of Primary Microcephaly with Neuronal Migration Defect Caused by Truncating Mutations in the <b><i>ASPM</i></b> Gene3
Neuroimaging Findings in Patients with <b><i>EBF3</i></b> Mutations: Report of Two Cases3
Bi-Allelic c.1746G&#x3e;T; p.Leu582= Variants in <b><i>TUBGCP4</i></b> in a Boy with Autism: Clinical Data and Literature Review3
Intracranial Calcification Associated with 3-Methylcrotonyl-CoA Carboxylase Deficiency3
Aicardi-Goutières Syndrome due to a SAMHD1 Mutation Presenting with Deep White Matter Cysts3
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 Turkey3
Clinical and Genetic Characteristics of Patients with Unexplained Intellectual Disability/Developmental Delay without Epilepsy3
A Rare Contiguous Gene Deletion Leading to Trichothiodystrophy Type 4 and Glutaric Aciduria Type 33
Persistent Hyperplastic Primary Vitreous with Microphthalmia and Coloboma in a Patient with Okur-Chung Neurodevelopmental Syndrome3
A Patient with a Novel <b><i>RARS2</i></b> Variant Exhibiting Liver Involvement as a New Clinical Feature and Review of the Literature3
Goldberg-Shprintzen Syndrome Associated with a Novel Variant in the <b><i>KIFBP</i></b>Gene3
Biallelic Mutations in <b><i>DNAJB11</i></b>are Associated with Prenatal Polycystic Kidney Disease in a Turkish Family3
Severe Antenatal Hypertrophic Cardiomyopathy Secondary to ACAD9-Related Mitochondrial Complex I Deficiency3
Pure Distal 7q Duplication: Describing a Macrocephalic Neurodevelopmental Syndrome, Case Report and Review of the Literature3
First Report of Two Egyptian Patients with Desbuquois Dysplasia due to Homozygous <b><i>CANT1</i></b> Mutations3
Description of Phenotypic Heterogeneity in a GJC2-Related Family and Literature Review2
Co-Occurring Atypical Galactosemia and Wilson Disease2
A Frameshift Variant in <b><i>KIAA0825</i></b> Causes Postaxial Polydactyly2
Gene Mutations in Cushing’s Syndrome2
Novel Findings in Floating-Harbor Syndrome and a Mini-Review of the Literature2
Coexistence of Megaconial Congenital Muscular Dystrophy and Cystinuria: Mimicking Hypotonia-Cystinuria Syndrome2
Two Patients Diagnosed as Succinate Dehydrogenase Deficiency: Case Report2
Evaluation of Sporadic and Familial Cases with Craniofrontonasal Syndrome: A Wide Clinical Spectrum and Identification of a Novel <b><i>EFNB1</i></b> Gene Mutation2
Autosomal Recessive Primary Microcephaly (MCPH) and Novel Pathogenic Variants in <b><i>ASPM</i></b> and <b><i>WDR62</i></b> Genes2
Nonlethal Raine Syndrome in a Newborn Boy Caused by a Novel <b><i>FAM20C</i></b> Variant2
Genetic Characterization of Hereditary Cancer Syndromes Based on Targeted Next-Generation Sequencing2
Typical Face, Developmental Delay, and Hearing Loss in a Patient with 3M Syndrome: The Co-Occurrence of Two Rare Conditions2
Balanced at First Sight, but in Reality out of Balance2
<b><i>KMT2B</i></b>-Related Dystonia: Challenges in Diagnosis and Treatment2
Distinct Autism Spectrum Disorder Phenotype and Hand-Flapping Stereotypes: Two Siblings with Novel Homozygous Mutation in <b><i>TRAPPC9</i></b> Gene and Literature Review2
Prenatal Silver-Russell Syndrome in a Chinese Family Identified by Non-Invasive Prenatal Testing2
Genetic Landscape of <b><i>SCN1A</i></b> Variants in a Turkish Cohort with GEFS+ Spectrum and Dravet Syndrome2
Interstitial Deletion of 2q22.2q22.3 Involving the Entire <b><i>ZEB2</i></b> Gene in a Case of Mowat-Wilson Syndrome2
Further Expansion of the Mutational Spectrum of 3MC Syndrome: A Novel <b><i>MASP1</i></b> Pathogenic Variant in a Male Patient2
CLN3-Associated NCL Case with a Preliminary Diagnosis of Niemann Pick Type C2
A Case of Combined Oxidative Phosphorylation Deficiency 35 Associated with a Novel Missense Variant of the <b><i>TRIT1</i></b> Gene2
A Witteveen-Kolk Syndrome Patient with Reflux Disease and a de novo Deletion of the SIN3A Gene1
Diagnostic Gene Panel Testing in (Non)-Syndromic Patients with Cleft Lip, Alveolus and/or Palate in the Netherlands1
Left Ventricular Systolic Dysfunction Related to Adrenal Insufficiency in a Case due to Autoimmune Polyendocrine Syndrome Type 1 with a Novel Variant1
Novel Cranial Imaging Findings and a Splice-Site Variant in a Patient with Tyrosinemia Type III, and a Summary of Published Cases1
Genotype and Phenotype Characterization of Patients with Mucopolysaccharidosis IV-A in Chile1
Identification of a Novel de novo Splicing Mutation in Duchenne Muscular Dystrophy Gene in an Iranian Family1
Noonan Syndrome with Multiple Lentigines and <b><i>PTPN11</i></b> Mutation: A Case with Intracerebral Hemorrhage1
Report on a Case with Moreno-Nishimura-Schmidt Overgrowth Syndrome: A Clinically Delineated Disease Yet of an Unknown Origin!1
Identification of a Novel Nonsense Variant in the DLL3 Gene Underlying Spondylocostal Dysostosis in a Consanguineous Pakistani Family1
The New Youngest Case of Grange Syndrome with a Novel Biallelic Pathogenic Variant in YY1AP11
Delving into the Genetic Causes of Language Impairment in a Case of Partial Deletion of NRXN11
22q11 Copy Number Variations in a Brazilian Cohort of Children with Congenital Heart Disorders1
Mutated Transcripts of ZEB2 Do Not Undergo Nonsense-Mediated Decay in Mowat-Wilson Syndrome1
Two Novel Variants and One Previously Reported Variant in the <b><i>ATP2C1</i></b> Gene in Chinese Hailey-Hailey Disease Patients1
Sequence Variants in MEGF8 and GJA1 Underlying Syndactyly1
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 Tissue1
Further Evidence of a Continuum in the Clinical Spectrum of Dominant <b><i>PIEZO2</i></b>-Related Disorders and Implications in Cerebellar Anomalies1
Expanded Phenotypic Spectrum or Multiple Syndromes?1
Pre- and Postnatal Characterization of Autosomal Recessive <b><i>KIDINS220</i></b>-Associated Ventriculomegaly1
The Methylation Status in the Chromosome 11p15.5 Region and Metabolic Disorders in Children with Syndromic and Nonsyndromic Intrauterine Growth Restriction1
Expanding the p.(Arg85Trp) Variant-Specific Phenotype of HNF4A: Features of Glycogen Storage Disease, Liver Cirrhosis, Impaired Mitochondrial Function, and Glomerular Changes1
FBLN5-Related Cutis Laxa Syndrome: A Case with a Novel Variant and Review of the Literature1
Deciphering the Pathogenic Nature of Two de novo Sequence Variations in a Patient with Shprintzen-Goldberg Syndrome1
Novel Hemizygous Missense Variant of Spermine Synthase (<b><i>SMS</i></b>) Gene Causes Snyder-Robinson Syndrome in a Four-Year-Old Boy1
A Case with NAD(P)HX Dehydratase (NAXD) Deficiency: A Newly Defined Mutation in a Novel Neurodegenerative Disorder1
Novel Compound Heterozygous Mutation c.3955_3958dup and c.5825C&#x3e;T in the <b><i>ATM</i></b> Gene: Clinical Evidence of Ataxia-Telangiectasia and Cancer in a Peruvian Fa1
A Case of Short Stature Caused by a Mutation in the ACAN Gene1
The Role of Copy Number Variations and FHIT Gene on Phenotypic Characteristics of Cases Diagnosed with Autism Spectrum Disorder1
Identification of a Novel IQCE Large Deletion through Copy Number Variant Analysis from Whole-Exome Sequencing Data of a Patient with Postaxial Polydactyly Type A71
Clinical and Molecular Update on the Fourth Reported Family with Hamamy Syndrome1
Diverse Clinical Manifestations of Cardiofaciocutaneous Syndrome Type 3 in Two Patients from South East Asia1
Comprehensive Genetic Analysis of RASopathy in the Era of Next-Generation Sequencing and Definition of a Novel Likely Pathogenic <b><i>KRAS</i></b> Variation1
Homozygous Missense Variant in the N-Terminal Region of ANK3 Gene Is Associated with Developmental Delay, Seizures, Speech Abnormality, and Aggressive Behavior1
Spondylometaepiphyseal Dysplasia Short Limb-Abnormal Calcification Type in Turkish Patients Reveals a Novel Mutation and New Features1
A New Family with a Novel <b><i>OTUD6B</i></b> Mutation: Practicing Whole Exome Sequencing for Antenatal Diagnosis of Tetralogy of Fallot1
Novel Pathogenic Variant (c.1171A&#x3e;T) in <b><i>PHF21A</i></b> in a Female with Intellectual Disability and Craniofacial Anomalies1
Prenatal Diagnosis of Acromelic Frontonasal Dysostosis1
Partial Trisomy 13q/Monosomy 3p Resulting from a Paternal Reciprocal 3p;13q Translocation in a Boy with Facial Dysmorphism and Hypertrophic Cardiomyopathy1
X-Linked Hydrocephalus with New L1CAM Pathogenic Variants: Review of the Most Prevalent Molecular and Phenotypic Features1
Deletion of 16q22.2q23.3 in a Boy with a Phenotype Reminiscent of Silver-Russell Syndrome1
Gene Ontology Enrichment Analysis of Renal Agenesis: Improving Prenatal Molecular Diagnosis1
A Novel Homozygous <b><i>ALG12</i></b> Mutation in a Patient with CDG Type Ig: New Report of a Case with a Mild Phenotype1
De novo Pure Partial Trisomy 6p Associated with Facial Dysmorphism, Developmental Delay, Brain Anomalies, and Primary Congenital Hypothyroidism1
New Report of a Different Clinical Presentation of <b><i>CD151</i></b> Splicing Mutation (c.351+2T&#x3e;C): Could <b><i>TSPAN11</i></b> be Considere1
An Apparently Balanced Complex Chromosome Rearrangement Involving Seven Breaks and Four Chromosomes in a Healthy Female and Segregation/Recombination in Her Affected Son1
First Patient Diagnosed as Feingold Syndrome Type 2 with Alport Syndrome and Review of the Current Literature1
COL7A1 Homozygous Arg2471Ter Mutation Leads to the Severe Phenotype of Autosomal Recessive Dystrophic Epidermolysis Bullosa in the Fetus1
Main Physical Features, Echocardiographic and Renal Ultrasonographic Findings of Turner Syndrome in 107 Pediatric Patients1
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