204 results on '"Manickam, Kandamurugu"'
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2. Expanding the phenotypic and molecular spectrum of NFS1‐related disorders that cause functional deficiencies in mitochondrial and cytosolic iron–sulfur cluster containing enzymes
3. Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome
4. Dominant-negative variants in CBX1 cause a neurodevelopmental disorder
5. Exploring the Weight and Health Status of Adults with Down Syndrome
6. Autosomal Recessive ACTG2-Related Visceral Myopathy in Brothers
7. DNA-based screening and population health: a points to consider statement for programs and sponsoring organizations from the American College of Medical Genetics and Genomics (ACMG)
8. Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis.
9. De novo variants in H3-3A and H3-3B are associated with neurodevelopmental delay, dysmorphic features, and structural brain abnormalities
10. A pediatric perspective on genomics and prevention in the twenty-first century
11. Generation of an induced pluripotent stem cell line (NCHi010-A) from a 6-year-old female with Down syndrome and without congenital heart disease
12. Trajectory of exonic variant discovery in a large clinical population: implications for variant curation
13. P025: Characterization of a silent variant in a neonate with presentation of clinical variant classic galactosemia
14. Correction to: Early cancer diagnoses through BRCA1/2 screening of unselected adult biobank participants
15. Genetic identification of familial hypercholesterolemia within a single U.S. health care system
16. Quality of life measures in children with Down syndrome with disorders of gut–brain interaction.
17. Early cancer diagnoses through BRCA1/2 screening of unselected adult biobank participants
18. Disorders of Gut-Brain Interaction in a National Cohort of Children With Down Syndrome
19. Outcomes of a Randomized Controlled Trial of Genomic Counseling for Patients Receiving Personalized and Actionable Complex Disease Reports
20. ClinGen’s Pediatric Actionability Working Group: Clinical actionability of secondary findings from genome-scale sequencing in children and adolescents
21. Medication therapy disease management: Geisingerʼs approach to population health management
22. Inherited and de novo variants extend the etiology of TAOK1-associated neurodevelopmental disorder
23. Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)
24. EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy
25. Saturation mutagenesis defines novel mouse models of severe spine deformity
26. Evaluating the mutational spectrum of SIN3A alterations: a case series of patients profiled by next generation sequencing
27. Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner Syndrome
28. Utility of specific amino acid ratios in screening for pyruvate dehydrogenase complex deficiencies and other disorders associated with lactic acidosis
29. ClinGen’s actionability working groups: development and early implementation of an assertion rubric for clinical actionability
30. Clinical actionability of secondary findings in the pediatric context
31. Outcomes of in-house rapid genome sequencing at a Children’s Hospital
32. Direct-to-Consumer Personal Genomic Testing: A Case Study and Practical Recommendations for “Genomic Counseling”
33. Genotype–phenotype correlation in interstitial 6q deletions: a report of 12 new cases
34. Suppression of severe achondroplasia with developmental delay and acanthosis nigricans by the p.Thr651Pro mutation
35. A Genome-First Approach to Characterize DICER1 Pathogenic Variant Prevalence, Penetrance, and Phenotype
36. Impact of Previous Genetic Counseling and Objective Numeracy on Accurate Interpretation of a Pharmacogenetics Test Report
37. Implementation of a clinical research pharmacogenomics program at an academic medical center: role of the genetics healthcare professional
38. Program in Pharmacogenomics at the Ohio State University Medical Center
39. Dominant-negative mutations inCBX1cause a neurodevelopmental disorder
40. Utility of specific amino acid ratios in screening for pyruvate dehydrogenase complex deficiencies and other mitochondrial disorders associated with congenital lactic acidosis and newborn screening prospects
41. BiallelicGRM7variants cause epilepsy, microcephaly, and cerebral atrophy
42. Unexplained regression in Down syndrome: 35 cases from an international Down syndrome database
43. Healthcare Utilization and Costs after Receiving a Positive BRCA1/2 Result from a Genomic Screening Program
44. Unexpected detection of dystrophin gene deletions by array comparative genomic hybridization
45. A pediatric perspective on genomics and prevention in the twenty-first century
46. Mutations in PLS1 , encoding fimbrin, cause autosomal dominant nonsyndromic hearing loss
47. De novo loss-of-function variants in NSD2 (WHSC1) associate with a subset of Wolf–Hirschhorn syndrome
48. Utility of specific amino acid ratios in screening for pyruvate dehydrogenase complex deficiencies and other mitochondrial disorders associated with congenital lactic acidosis and newborn screening prospects.
49. Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy.
50. Exome Sequencing–Based Screening for BRCA1/2 Expected Pathogenic Variants Among Adult Biobank Participants
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