|
| 36914163 | Subdural Hemorrhage as an Early Presentation in a Case of Sotos Syndrome. | Neuropediatrics | 2024 |
| 37717890 | Prenatal vs postnatal diagnosis of 22q11.2 deletion syndrome: cardiac and noncardiac outcomes through 1 year of age. | Am J Obstet Gynecol | 2024 |
| 37962958 | Spliceosome malfunction causes neurodevelopmental disorders with overlapping features. | J Clin Invest | 2024 |
| 37632214 | Characterization of the prenatal renal phenotype associated with 17q12, HNF1B, microdeletions. | Prenat Diagn | 2024 |
| 37705207 | Microcystic lymphatic malformations in Turner syndrome are due to somatic mosaicism of PIK3CA. | Am J Med Genet A | 2024 |
| 36075864 | Platelet findings in 22q11.2 deletion syndrome correlate with disease manifestations but do not correlate with GPIb surface expression. | Clin Genet | 2023 |
| 37126546 | Abrogation of MAP4K4 protein function causes congenital anomalies in humans and zebrafish. | Sci Adv | 2023 |
| 37087635 | Dominant-negative variants in CBX1 cause a neurodevelopmental disorder. | Genet Med | 2023 |
| 37154149 | Pathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetrance. | Genet Med | 2023 |
| 36987693 | Psychosis spectrum features, neurocognition and functioning in a longitudinal study of youth with 22q11.2 deletion syndrome. | Psychol Med | 2023 |
| 36980952 | Coexisting Conditions Modifying Phenotypes of Patients with 22q11.2 Deletion Syndrome. | Genes (Basel) | 2023 |
| 37377026 | Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms. | Am J Med Genet A | 2023 |
| 37440275 | Anesthesia and Sedation Exposure and Neurodevelopmental Outcomes in Infants Undergoing Congenital Cardiac Surgery: A Retrospective Cohort Study. | Anesthesiology | 2023 |
| 37227088 | TOPORS as a novel causal gene for Joubert syndrome. | Am J Med Genet A | 2023 |
| 36610046 | Genomic sequencing in a cohort of individuals with fibular aplasia, tibial campomelia, and oligosyndactyly (FATCO) syndrome. | Am J Med Genet A | 2023 |
| 36735193 | Immunologic, Molecular, and Clinical Profile of Patients with Chromosome 22q11.2 Duplications. | J Clin Immunol | 2023 |
| 36794641 | Expanding the reproductive organ phenotype of CHD7-spectrum disorder. | Am J Med Genet A | 2023 |
| 36757831 | The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders. | Brain | 2023 |
| 34655156 | A novel MBTPS2 variant associated with BRESHECK syndrome impairs sterol-regulated transcription and the endoplasmic reticulum stress response. | Am J Med Genet A | 2022 |
| 35411495 | Surgical insights and management in patients with the 22q11.2 deletion syndrome. | Pediatr Surg Int | 2022 |
| 35642503 | Clinical Effectiveness of Telemedicine-Based Pediatric Genetics Care. | Pediatrics | 2022 |
| 35641891 | Gastrointestinal Features of 22q11.2 Deletion Syndrome Include Chronic Motility Problems From Childhood to Adulthood. | J Pediatr Gastroenterol Nutr | 2022 |
| 35606495 | Genetics etiologies and genotype phenotype correlations in a cohort of individuals with central conducting lymphatic anomaly. | Eur J Hum Genet | 2022 |
| 35430246 | The Genomics of Congenital Diaphragmatic Hernia: A 10-Year Retrospective Review. | J Pediatr | 2022 |
| 35654890 | Correction to: Genetics etiologies and genotype phenotype correlations in a cohort of individuals with central conducting lymphatic anomaly. | Eur J Hum Genet | 2022 |
| 36408368 | A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder. | HGG Adv | 2022 |
| 36672801 | Improved Outcomes in Patients with 22q11.2 Deletion Syndrome and Diagnosis of Interrupted Aortic Arch Prior to Birth Hospital Discharge, a Retrospective Study. | Genes (Basel) | 2022 |
| 35906847 | The experience of one pediatric geneticist with telemedicine-based clinical diagnosis. | Am J Med Genet A | 2022 |
| 36140835 | A Novel Non-Allelic Homologous Recombination Event in a Parent with an 11;22 Reciprocal Translocation Leading to 22q11.2 Deletion Syndrome. | Genes (Basel) | 2022 |
| 35932041 | Interstitial deletion 4p15.32p16.1 and complex chromoplexy in a female proband with severe neurodevelopmental delay, growth failure and dysmorphism. | Mol Cytogenet | 2022 |
| 36292685 | Influence of Parent-of-Origin on Intellectual Outcomes in the Chromosome 22q11.2 Deletion Syndrome. | Genes (Basel) | 2022 |
| 36395323 | Childhood exposures to environmental chemicals and neurodevelopmental outcomes in congenital heart disease. | PLoS One | 2022 |
| 36083290 | Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants. | Genet Med | 2022 |
| 33615640 | Effects of copy number variations on brain structure and risk for psychiatric illness: Large-scale studies from the ENIGMA working groups on CNVs. | Hum Brain Mapp | 2022 |
| 35314152 | Molecular Mechanisms Contributing to the Etiology of Congenital Diaphragmatic Hernia: A Review and Novel Cases. | J Pediatr | 2022 |
| 34881817 | Further supporting SMARCC2-related neurodevelopmental disorder through exome analysis and reanalysis in two patients. | Am J Med Genet A | 2022 |
| 35065284 | Molecular Diagnostic Outcomes from 700 Cases: What Can We Learn from a Retrospective Analysis of Clinical Exome Sequencing? | J Mol Diagn | 2022 |
| 34906488 | Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency. | Genet Med | 2022 |
| 35232796 | Consolidation of the clinical and genetic definition of a <i>SOX4-</i>related neurodevelopmental syndrome. | J Med Genet | 2022 |
| 34686764 | Altered functional brain dynamics in chromosome 22q11.2 deletion syndrome during facial affect processing. | Mol Psychiatry | 2022 |
| 32925199 | Chromosome 4q28.3q32.3 duplication in a patient with lymphatic malformations, craniosynostosis, and dysmorphic features. | Clin Dysmorphol | 2021 |
| 33683002 | Congenital polyvalvular disease expands the cardiac phenotype of the RASopathies. | Am J Med Genet A | 2021 |
| 33876226 | Disruption of the blood-brain barrier in 22q11.2 deletion syndrome. | Brain | 2021 |
| 33783954 | Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome. | Am J Med Genet A | 2021 |
| 33894539 | A binational study assessing risk and resilience factors in 22q11.2 deletion syndrome. | J Psychiatr Res | 2021 |
| 33811546 | Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome. | Hum Genet | 2021 |
| 33751773 | Understanding the phenotypic spectrum of ASXL-related disease: Ten cases and a review of the literature. | Am J Med Genet A | 2021 |
| 34435264 | Chromatin Modifications in 22q11.2 Deletion Syndrome. | J Clin Immunol | 2021 |
| 34702355 | De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures. | Mol Autism | 2021 |
| 34478656 | Response to Hamosh et al. | Am J Hum Genet | 2021 |