Connection

DAVUT PEHLIVAN to Mice

This is a "connection" page, showing publications DAVUT PEHLIVAN has written about Mice.
Connection Strength

0.269
  1. Modeling antisense oligonucleotide therapy in MECP2 duplication syndrome human iPSC-derived neurons reveals gene expression programs responsive to MeCP2 levels. Hum Mol Genet. 2024 11 08; 33(22):1986-2001.
    View in: PubMed
    Score: 0.018
  2. Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a severe developmental disorder spectrum. Genet Med. 2025 Jan; 27(1):101273.
    View in: PubMed
    Score: 0.018
  3. Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy. Nat Commun. 2024 Aug 22; 15(1):7239.
    View in: PubMed
    Score: 0.018
  4. Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease. Am J Hum Genet. 2023 08 03; 110(8):1394-1413.
    View in: PubMed
    Score: 0.016
  5. Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage. Am J Hum Genet. 2023 04 06; 110(4):681-690.
    View in: PubMed
    Score: 0.016
  6. Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder. Am J Hum Genet. 2022 11 03; 109(11):2068-2079.
    View in: PubMed
    Score: 0.016
  7. Loss of non-motor kinesin KIF26A causes congenital brain malformations via dysregulated neuronal migration and axonal growth as well as apoptosis. Dev Cell. 2022 10 24; 57(20):2381-2396.e13.
    View in: PubMed
    Score: 0.015
  8. Biallelic variants in ADAMTS15 cause a novel form of distal arthrogryposis. Genet Med. 2022 10; 24(10):2187-2193.
    View in: PubMed
    Score: 0.015
  9. A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode. Am J Hum Genet. 2022 09 01; 109(9):1713-1723.
    View in: PubMed
    Score: 0.015
  10. Biallelic pathogenic variants in roundabout guidance receptor 1 associate with syndromic congenital anomalies of the kidney and urinary tract. Kidney Int. 2022 05; 101(5):1039-1053.
    View in: PubMed
    Score: 0.015
  11. Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder. Am J Hum Genet. 2021 06 03; 108(6):1069-1082.
    View in: PubMed
    Score: 0.014
  12. NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease. Nat Commun. 2020 09 15; 11(1):4625.
    View in: PubMed
    Score: 0.013
  13. Human and mouse studies establish TBX6 in Mendelian CAKUT and as a potential driver of kidney defects associated with the 16p11.2 microdeletion syndrome. Kidney Int. 2020 10; 98(4):1020-1030.
    View in: PubMed
    Score: 0.013
  14. Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide. Eur J Hum Genet. 2020 09; 28(9):1243-1264.
    View in: PubMed
    Score: 0.013
  15. TBX6-associated congenital scoliosis (TACS) as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene dosage model. Genet Med. 2019 07; 21(7):1548-1558.
    View in: PubMed
    Score: 0.012
  16. Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations. Am J Hum Genet. 2014 Jun 05; 94(6):915-23.
    View in: PubMed
    Score: 0.009
  17. Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system function. Cell. 2014 Apr 24; 157(3):636-50.
    View in: PubMed
    Score: 0.009
  18. Recurrent CNVs and SNVs at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome. Am J Hum Genet. 2014 May 01; 94(5):745-54.
    View in: PubMed
    Score: 0.009
  19. Curcumin facilitates a transitory cellular stress response in Trembler-J mice. Hum Mol Genet. 2013 Dec 01; 22(23):4698-705.
    View in: PubMed
    Score: 0.008
  20. ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry. Am J Hum Genet. 2013 Aug 08; 93(2):357-67.
    View in: PubMed
    Score: 0.008
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.