576 results on '"Zackai, Elaine"'
Search Results
2. Secondary ACMG and non-ACMG genetic findings in a multiethnic cohort of 16,713 pediatric participants
3. Novel insights into the phenotypic spectrum and pathogenesis of Hardikar syndrome
4. Deleterious ZNRF3 germline variants cause neurodevelopmental disorders with mirror brain phenotypes via domain-specific effects on Wnt/β-catenin signaling
5. Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays
6. Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes
7. Genomic Contributors to Esophageal Atresia and Tracheoesophageal Fistula: A 12 Year Retrospective Review
8. Chromatin regulators in the TBX1 network confer risk for conotruncal heart defects in 22q11.2DS
9. Immunologic, Molecular, and Clinical Profile of Patients with Chromosome 22q11.2 Duplications
10. Pathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetrance
11. Dominant-negative variants in CBX1 cause a neurodevelopmental disorder
12. Genetics etiologies and genotype phenotype correlations in a cohort of individuals with central conducting lymphatic anomaly
13. Anesthesia and Sedation Exposure and Neurodevelopmental Outcomes in Infants Undergoing Congenital Cardiac Surgery: A Retrospective Cohort Study
14. Surgical insights and management in patients with the 22q11.2 deletion syndrome
15. Interstitial deletion 4p15.32p16.1 and complex chromoplexy in a female proband with severe neurodevelopmental delay, growth failure and dysmorphism
16. Prenatal vs postnatal diagnosis of 22q11.2 deletion syndrome: cardiac and noncardiac outcomes through 1 year of age
17. Altered functional brain dynamics in chromosome 22q11.2 deletion syndrome during facial affect processing
18. Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot
19. Chromatin Modifications in 22q11.2 Deletion Syndrome
20. Aortic Root Dilation in Patients with 22q11.2 Deletion Syndrome Without Intracardiac Anomalies
21. A binational study assessing risk and resilience factors in 22q11.2 deletion syndrome
22. Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome
23. Phenotypic spectrum and tumor risk in Simpson‐Golabi‐Behmel syndrome: Case series and comprehensive literature review.
24. Utility of genome sequencing in exome‐negative pediatric patients with neurodevelopmental phenotypes.
25. A Novel Approach to Dysmorphology to Enhance the Phenotypic Classification of Autism Spectrum Disorder in the Study to Explore Early Development
26. De novo loss-of-function variants in X-linked MED12 are associated with Hardikar syndrome in females
27. Enlarged cavum septum pellucidum and small thymus as markers for 22q11.2 deletion syndrome.
28. Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling
29. Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes
30. A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome
31. Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants
32. Pathogenic variants in CDC45 on the remaining allele in patients with a chromosome 22q11.2 deletion result in a novel autosomal recessive condition
33. The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype–phenotype correlations, and molecular basis
34. Attention deficit hyperactivity disorder symptoms as antecedents of later psychotic outcomes in 22q11.2 deletion syndrome
35. Management of velopharyngeal dysfunction in patients with 22q11.2 deletion syndrome: A survey of practice patterns
36. Olfactory deficits and psychosis-spectrum symptoms in 22q11.2 deletion syndrome
37. Primary lymphedema and other lymphatic anomalies are associated with 22q11.2 deletion syndrome
38. Hearing Loss after Cardiac Surgery in Infancy: An Unintended Consequence of Life-Saving Care
39. Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation
40. Human Chromosome 7: DNA Sequence and Biology
41. Impairment of different protein domains causes variable clinical presentation within Pitt-Hopkins syndrome and suggests intragenic molecular syndromology of TCF4
42. White matter microstructural deficits in 22q11.2 deletion syndrome
43. Negative subthreshold psychotic symptoms distinguish 22q11.2 deletion syndrome from other neurodevelopmental disorders: A two-site study
44. The dimensional structure of psychopathology in 22q11.2 Deletion Syndrome
45. Association of airway abnormalities with 22q11.2 deletion syndrome
46. Optical mapping of the 22q11.2DS region reveals complex repeat structures and preferred locations for non-allelic homologous recombination (NAHR)
47. Subdural Hemorrhage as an Early Presentation in a Case of Sotos Syndrome.
48. Characterization of the prenatal renal phenotype associated with 17q12, HNF1B, microdeletions.
49. Microcystic lymphatic malformations in Turner syndrome are due to somatic mosaicism of PIK3CA.
50. A case-control study of bleeding risk in children with 22q11.2 deletion syndrome undergoing cardiac surgery.
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