|
| 37717890 | Prenatal vs postnatal diagnosis of 22q11.2 deletion syndrome: cardiac and noncardiac outcomes through 1 year of age. | Am J Obstet Gynecol | 2024 |
| 36599940 | Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome. | Eur J Hum Genet | 2023 |
| 36196002 | Epilepsy in KBG syndrome. | Developmental Medicine and Child Neurology | 2023 |
| 36404488 | Cardiac function in adolescents and young adults with 22q11.2 deletion syndrome without congenital heart disease. | European Journal of Medical Genetics | 2023 |
| 36399134 | Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities. | Genet Med | 2023 |
| 37923896 | Williams-Beuren syndrome shapes the gut microbiota metaproteome. | | 2023 |
| 37586838 | Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature. | J Med Genet | 2023 |
| 38002527 | A New Case of Autosomal-Dominant <i>POLR3B</i>-Related Disorder: Widening Genotypic and Phenotypic <i>Spectrum</i>. | Brain Sci | 2023 |
| 37895192 | From Feeding Challenges to Oral-Motor Dyspraxia: A Comprehensive Description of 10 New Cases with CTNNB1 Syndrome. | | 2023 |
| 36965478 | Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis. | Am J Hum Genet | 2023 |
| 37328513 | Analysis of gut microbiota in patients with Williams-Beuren Syndrome reveals dysbiosis linked to clinical manifestations. | | 2023 |
| 37455656 | Congenital heart defects in CTNNB1 syndrome: Raising clinical awareness. | | 2023 |
| 37063679 | Neurodevelopmental and genetic findings in neonates with intracranial arteriovenous shunts: A case series. | | 2023 |
| 36939501 | Next generation sequencing panel target genes: possible diagnostic tool for ectodermal dysplasia related diseases. | | 2023 |
| 37238595 | Deep Intronic LINE-1 Insertions in : Expanding the Spectrum of Neurofibromatosis Type 1-Associated Rearrangements. | | 2023 |
| 36672900 | Prenatal Screening and Diagnostic Considerations for 22q11.2 Microdeletions. | Genes (Basel) | 2023 |
| 36672887 | Insights into the Cardiac Phenotype in 9p Deletion Syndrome: A Multicenter Italian Experience and Literature Review. | | 2023 |
| 37041148 | FOXI3 pathogenic variants cause one form of craniofacial microsomia. | Nat Commun | 2023 |
| 34763108 | Congenital heart defects in the recurrent 2q13 deletion syndrome. | European Journal of Medical Genetics | 2022 |
| 35593432 | Anatomically corrected malposition of the great arteries (S,L,D) with mutation of Nodal gene. | Cardiology in the Young | 2022 |
| 35904974 | Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data. | Am J Med Genet A | 2022 |
| 35581385 | Genome-wide DNA methylation profiling and exome sequencing resolved a long-time misdiagnosed case. | J Hum Genet | 2022 |
| 35886049 | Differences and Similarities in Adaptive Functioning between Children with Autism Spectrum Disorder and Williams-Beuren Syndrome: A Longitudinal Study. | Genes | 2022 |
| 35575217 | Expanding the novel MAPKAPK5-related developmental disorder's genotype-phenotype correlation: Patient report and 19Â months of follow-up. | Clinical Genetics | 2022 |
| 36012925 | Obsessive Compulsive "Paper Handling": A Potential Distinctive Behavior in Children and Adolescents with KBG Syndrome. | Journal of Clinical Medicine | 2022 |
| 35879407 | Intragenic inversions in NF1 gene as pathogenic mechanism in neurofibromatosis type 1. | European Journal of Human Genetics | 2022 |
| 35689525 | Posterior fossa ependymoma in neurodevelopmental syndrome caused by a de novo germline pathogenic POLR2A variant. | American Journal of Medical Genetics, Part A | 2022 |
| 35491976 | Crossed pulmonary arteries: An underestimated cardiovascular variant with a strong association with genetic syndromes-A report of 74 cases with systematic review of the literature. | American Journal of Medical Genetics, Part A | 2022 |
| 35740709 | 22q11.2 Deletion Syndrome: Impact of Genetics in the Treatment of Conotruncal Heart Defects. | Children | 2022 |
| 36421837 | Genome-Wide DNA Methylation Profiling Solves Uncertainty in Classifying <i>NSD1</i> Variants. | Genes (Basel) | 2022 |
| 35716097 | Genotype-phenotype spectrum and correlations in Xia-Gibbs syndrome: Report of five novel cases and literature review. | Birth Defects Research | 2022 |
| 36490374 | Neuropsychological features in RASopathies: A pilot study on parent training program involving families of children with Noonan syndrome. | | 2022 |
| 35042990 | Osteopathia striata with cranial sclerosis: a new case supporting the link with bilateral Wilms tumor. | European Journal of Human Genetics | 2022 |
| 35238837 | Two new cases of nonepileptic neurodevelopmental disorder due to GRIN2B variants and detailed clinical description of the behavioral phenotype. | Clinical Dysmorphology | 2022 |
| 34897976 | 8p23.1 deletion: Look out for left ventricular hypertrabeculation and not only congenital heart diseases. Single-center experience and literature revision. | American Journal of Medical Genetics, Part A | 2022 |
| 35200700 | Cardiomyopathies in Children and Systemic Disorders When Is It Useful to Look beyond the Heart? | Journal of Cardiovascular Development and Disease | 2022 |
| 34776080 | Hypertrophic Cardiomyopathy in RASopathies: Diagnosis, Clinical Characteristics, Prognostic Implications, and Management. | Heart Fail Clin | 2022 |
| 35160301 | Syndromic and Non-Syndromic Patients with Repaired Tetralogy of Fallot: Does It Affect the Long-Term Outcome? | Journal of Clinical Medicine | 2022 |
| 35002956 | Growth in Children With Noonan Syndrome and Effects of Growth Hormone Treatment on Adult Height. | Frontiers in Endocrinology | 2021 |
| 32015465 | Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion. | Mol Psychiatry | 2021 |
| 33811726 | Smith-Magenis syndrome: Report of morphological and new functional cardiac findings with review of the literature. | American Journal of Medical Genetics, Part A | 2021 |
| 34067464 | Establishment and Characterization of a Cell Line (S-RMS1) Derived from an Infantile Spindle Cell Rhabdomyosarcoma with Fusion Transcript. | International Journal of Molecular Sciences | 2021 |
| 33851733 | Severe herpes virus 6 interstitial pneumonia in an infant with three variants in genes predisposing to lung disease. | Journal of Medical Virology | 2021 |
| 33530447 | Genome-Wide DNA Methylation Analysis of a Cohort of 41 Patients Affected by Oculo-Auriculo-Vertebral Spectrum (OAVS). | Int J Mol Sci | 2021 |
| 33733458 | Expansion of the clinical and molecular spectrum of an XPD-related disorder linked to biallelic mutations in ERCC2 gene. | Clinical Genetics | 2021 |
| 33674768 | Clinical delineation, sex differences, and genotype-phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2. | Genet Med | 2021 |
| 33572736 | Recognition Memory in Noonan Syndrome. | Brain Sciences | 2021 |
| 33668418 | Manic and Depressive Symptoms in Children Diagnosed with Noonan Syndrome. | Brain Sci | 2021 |
| 33565183 | Biallelic hypomorphic variants in ALDH1A2 cause a novel lethal human multiple congenital anomaly syndrome encompassing diaphragmatic, pulmonary, and cardiovascular defects. | Hum Mutat | 2021 |
| 33988253 | Copy number variation analysis implicates novel pathways in patients with oculo-auriculo-vertebral-spectrum and congenital heart defects. | Clin Genet | 2021 |