Connection

Co-Authors

This is a "connection" page, showing publications co-authored by JENNIFER POSEY and DAVUT PEHLIVAN.
Connection Strength

3.523
  1. Homozygous variants in WDR83OS lead to a neurodevelopmental disorder with hypercholanemia. Am J Hum Genet. 2024 Nov 07; 111(11):2566-2581.
    View in: PubMed
    Score: 0.247
  2. High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population. Am J Hum Genet. 2021 10 07; 108(10):1981-2005.
    View in: PubMed
    Score: 0.200
  3. The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance. Am J Hum Genet. 2019 07 03; 105(1):132-150.
    View in: PubMed
    Score: 0.171
  4. Insights into genetics, human biology and disease gleaned from family based genomic studies. Genet Med. 2019 04; 21(4):798-812.
    View in: PubMed
    Score: 0.166
  5. Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a severe developmental disorder spectrum. Genet Med. 2024 Sep 19; 101273.
    View in: PubMed
    Score: 0.061
  6. Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders. Genet Med. 2024 Sep 10; 101251.
    View in: PubMed
    Score: 0.061
  7. Correction: Multilocus pathogenic variants contribute to intrafamilial clinical heterogeneity: a retrospective study of sibling pairs with neurodevelopmental disorders. BMC Med Genomics. 2024 Aug 07; 17(1):201.
    View in: PubMed
    Score: 0.061
  8. PSMD11 loss-of-function variants correlate with a neurobehavioral phenotype, obesity, and increased interferon response. Am J Hum Genet. 2024 07 11; 111(7):1352-1369.
    View in: PubMed
    Score: 0.060
  9. Multilocus pathogenic variants contribute to intrafamilial clinical heterogeneity: a retrospective study of sibling pairs with neurodevelopmental disorders. BMC Med Genomics. 2024 04 16; 17(1):85.
    View in: PubMed
    Score: 0.060
  10. HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data. Nucleic Acids Res. 2024 Feb 28; 52(4):e18.
    View in: PubMed
    Score: 0.059
  11. The impact of the Turkish population variome on the genomic architecture of rare disease traits. Genet Med Open. 2024; 2:101830.
    View in: PubMed
    Score: 0.059
  12. Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disorders. medRxiv. 2024 Feb 13.
    View in: PubMed
    Score: 0.059
  13. RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS. medRxiv. 2024 Jan 09.
    View in: PubMed
    Score: 0.059
  14. Biallelic missense variants in COG3 cause a congenital disorder of glycosylation with impairment of retrograde vesicular trafficking. J Inherit Metab Dis. 2023 11; 46(6):1195-1205.
    View in: PubMed
    Score: 0.057
  15. 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: 0.057
  16. Novel LSS variants in alopecia and intellectual disability syndrome: New case report and clinical spectrum of LSS-related rare disease traits. Clin Genet. 2023 09; 104(3):344-349.
    View in: PubMed
    Score: 0.056
  17. 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: 0.055
  18. Biallelic variants in ADAMTS15 cause a novel form of distal arthrogryposis. Genet Med. 2023 May; 25(5):100799.
    View in: PubMed
    Score: 0.055
  19. Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly. Am J Hum Genet. 2023 03 02; 110(3):499-515.
    View in: PubMed
    Score: 0.055
  20. A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly. Am J Med Genet A. 2023 03; 191(3):794-804.
    View in: PubMed
    Score: 0.055
  21. TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions. Am J Hum Genet. 2022 12 01; 109(12):2270-2282.
    View in: PubMed
    Score: 0.054
  22. Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42?affected individuals. Genet Med. 2023 01; 25(1):90-102.
    View in: PubMed
    Score: 0.054
  23. 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: 0.054
  24. 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: 0.054
  25. Biallelic variants in ADAMTS15 cause a novel form of distal arthrogryposis. Genet Med. 2022 10; 24(10):2187-2193.
    View in: PubMed
    Score: 0.053
  26. 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: 0.053
  27. Developmental genomics of limb malformations: Allelic series in association with gene dosage effects contribute to the clinical variability. HGG Adv. 2022 Oct 13; 3(4):100132.
    View in: PubMed
    Score: 0.053
  28. Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia. Ann Neurol. 2022 08; 92(2):304-321.
    View in: PubMed
    Score: 0.052
  29. Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy. Brain. 2022 04 29; 145(3):909-924.
    View in: PubMed
    Score: 0.052
  30. Novel RETREG1 (FAM134B) founder allele is linked to HSAN2B and renal disease in a Turkish family. Am J Med Genet A. 2022 07; 188(7):2153-2161.
    View in: PubMed
    Score: 0.052
  31. 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: 0.051
  32. Quantitative dissection of multilocus pathogenic variation in an Egyptian infant with severe neurodevelopmental disorder resulting from multiple molecular diagnoses. Am J Med Genet A. 2022 03; 188(3):735-750.
    View in: PubMed
    Score: 0.050
  33. Deep clinicopathological phenotyping identifies a previously unrecognized pathogenic EMD splice variant. Ann Clin Transl Neurol. 2021 10; 8(10):2052-2058.
    View in: PubMed
    Score: 0.050
  34. Biallelic loss-of-function variants in the splicing regulator NSRP1 cause a severe neurodevelopmental disorder with spastic cerebral palsy and epilepsy. Genet Med. 2021 12; 23(12):2455-2460.
    View in: PubMed
    Score: 0.050
  35. Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies. Genet Med. 2021 09; 23(9):1715-1725.
    View in: PubMed
    Score: 0.049
  36. Two novel bi-allelic KDELR2 missense variants cause osteogenesis imperfecta with neurodevelopmental features. Am J Med Genet A. 2021 07; 185(7):2241-2249.
    View in: PubMed
    Score: 0.049
  37. Biallelic Pathogenic Variants in TNNT3 Associated With Congenital Myopathy. Neurol Genet. 2021 Jun; 7(3):e589.
    View in: PubMed
    Score: 0.049
  38. A novel homozygous SLC13A5 whole-gene deletion generated by Alu/Alu-mediated rearrangement in an Iraqi family with epileptic encephalopathy. Am J Med Genet A. 2021 07; 185(7):1972-1980.
    View in: PubMed
    Score: 0.048
  39. MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia. Ann Neurol. 2021 04; 89(4):828-833.
    View in: PubMed
    Score: 0.048
  40. Neurodevelopmental disorder in an Egyptian family with a biallelic ALKBH8 variant. Am J Med Genet A. 2021 04; 185(4):1288-1293.
    View in: PubMed
    Score: 0.048
  41. Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome. Am J Med Genet A. 2021 01; 185(1):119-133.
    View in: PubMed
    Score: 0.047
  42. Phenotypic expansion in KIF1A-related dominant disorders: A description of novel variants and review of published cases. Hum Mutat. 2020 12; 41(12):2094-2104.
    View in: PubMed
    Score: 0.047
  43. Author Correction: NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease. Nat Commun. 2020 Oct 01; 11(1):5022.
    View in: PubMed
    Score: 0.047
  44. Biallelic in-frame deletion in TRAPPC4 in a family with developmental delay and cerebellar atrophy. Brain. 2020 10 01; 143(10):e83.
    View in: PubMed
    Score: 0.047
  45. 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: 0.046
  46. 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: 0.045
  47. 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: 0.045
  48. Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy. Ann Clin Transl Neurol. 2020 05; 7(5):610-627.
    View in: PubMed
    Score: 0.045
  49. Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability. Brain. 2020 01 01; 143(1):112-130.
    View in: PubMed
    Score: 0.044
  50. Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder. Am J Hum Genet. 2019 11 07; 105(5):1048-1056.
    View in: PubMed
    Score: 0.044
  51. Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders. Am J Hum Genet. 2019 11 07; 105(5):1005-1015.
    View in: PubMed
    Score: 0.044
  52. Exome Sequencing of a Primary Ovarian Insufficiency Cohort Reveals Common Molecular Etiologies for a Spectrum of Disease. J Clin Endocrinol Metab. 2019 08 01; 104(8):3049-3067.
    View in: PubMed
    Score: 0.043
  53. Biallelic CACNA2D2 variants in epileptic encephalopathy and cerebellar atrophy. Ann Clin Transl Neurol. 2019 08; 6(8):1395-1406.
    View in: PubMed
    Score: 0.043
  54. 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: 0.041
  55. Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay. Am J Hum Genet. 2018 11 01; 103(5):794-807.
    View in: PubMed
    Score: 0.041
  56. Phenotypic expansion in DDX3X - a common cause of intellectual disability in females. Ann Clin Transl Neurol. 2018 Oct; 5(10):1277-1285.
    View in: PubMed
    Score: 0.040
  57. Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies. Genet Med. 2019 03; 21(3):663-675.
    View in: PubMed
    Score: 0.040
  58. Phenotypic expansion illuminates multilocus pathogenic variation. Genet Med. 2018 12; 20(12):1528-1537.
    View in: PubMed
    Score: 0.039
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.