Connection

CHRISTINE ENG to Pedigree

This is a "connection" page, showing publications CHRISTINE ENG has written about Pedigree.
Connection Strength

0.443
  1. Contribution of uniparental disomy in a clinical trio exome cohort of 2675 patients. Mol Genet Genomic Med. 2021 11; 9(11):e1792.
    View in: PubMed
    Score: 0.035
  2. Compound heterozygous KCTD7 variants in progressive myoclonus epilepsy. J Neurogenet. 2021 Mar-Jun; 35(2):74-83.
    View in: PubMed
    Score: 0.034
  3. A Genocentric Approach to Discovery of Mendelian Disorders. Am J Hum Genet. 2019 11 07; 105(5):974-986.
    View in: PubMed
    Score: 0.031
  4. Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function. Hum Mutat. 2019 03; 40(3):267-280.
    View in: PubMed
    Score: 0.029
  5. Clinical and molecular characterization of de novo loss of function variants in HNRNPU. Am J Med Genet A. 2017 Oct; 173(10):2680-2689.
    View in: PubMed
    Score: 0.027
  6. Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features. Am J Hum Genet. 2017 Apr 06; 100(4):676-688.
    View in: PubMed
    Score: 0.026
  7. A de novo mutation in the X-linked PAK3 gene is the underlying cause of intellectual disability and macrocephaly in monozygotic twins. Eur J Med Genet. 2017 Apr; 60(4):212-216.
    View in: PubMed
    Score: 0.026
  8. Homozygous variants in pyrroline-5-carboxylate reductase 2 (PYCR2) in patients with progressive microcephaly and hypomyelinating leukodystrophy. Am J Med Genet A. 2017 Feb; 173(2):460-470.
    View in: PubMed
    Score: 0.025
  9. MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death. Genome Med. 2016 11 01; 8(1):106.
    View in: PubMed
    Score: 0.025
  10. Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene. Genet Med. 2017 04; 19(4):412-420.
    View in: PubMed
    Score: 0.025
  11. Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans. Am J Hum Genet. 2016 Oct 06; 99(4):886-893.
    View in: PubMed
    Score: 0.025
  12. De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive. Am J Hum Genet. 2016 09 01; 99(3):720-727.
    View in: PubMed
    Score: 0.025
  13. CRIPT exonic deletion and a novel missense mutation in a female with short stature, dysmorphic features, microcephaly, and pigmentary abnormalities. Am J Med Genet A. 2016 08; 170(8):2206-11.
    View in: PubMed
    Score: 0.024
  14. Whole exome sequencing identifies the first STRADA point mutation in a patient with polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome (PMSE). Am J Med Genet A. 2016 08; 170(8):2181-5.
    View in: PubMed
    Score: 0.024
  15. Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations. Am J Hum Genet. 2016 Feb 04; 98(2):347-57.
    View in: PubMed
    Score: 0.024
  16. De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome. Am J Hum Genet. 2015 Dec 03; 97(6):904-13.
    View in: PubMed
    Score: 0.024
  17. Recognition and diagnosis of mucopolysaccharidosis II (Hunter syndrome). Pediatrics. 2008 Feb; 121(2):e377-86.
    View in: PubMed
    Score: 0.014
Connection Strength

The connection strength for concepts is the sum of the scores for each matching publication.

Publication scores are based on many factors, including how long ago they were written and whether the person is a first or senior author.