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Article detail · 2017

De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development

Journal

Nature Genetics

ISSN 1061-4036

YÖKSİS OpenAlex Open access · green SJR Q1 JCR Q1 Citations 136 Top 10% Percentile 97.8% FWCI 7.04
Year
2017
DOI
10.1038/ng.3765
Type
article

Data source split

  • YÖKSİS YÖKSİS article record
  • YÖKSİS venue NATURE GENETICS
  • Catalog match (ISSN) Nature Genetics
  • OpenAlex OpenAlex enrichment (abstract, citations, topics)

OpenAlex record

Abstract

Abstract not compiled yet; it will appear after the DergiPark / OpenAlex queue runs.

Topics

Citations

OpenAlex cited_by_count. Not a WoS or Scopus citation count; those sources have no separate column here.

136 citations

OpenAlex cited_by_count (cache / database)

3 publications in the local catalog that cite this work (OpenAlex reference match; not the full global list).

  1. Neugeborenes mit Nasenagenesie: Neonatologische Herausforderungen bei der Versorgung eines Neugeborenen mit Bosma-Arhinie-Mikrophthalmie-Syndrom (BAMS) 2020 Citations 2 · OpenAlex
  2. A Newborn with Arhinia: Suspected BAM Syndrome 2023 Citations 1 · OpenAlex
  3. A Newborn with Arhinia: Suspected BAM Syndrome 2023 Citations 1 · OpenAlex

Authors

  1. Christopher T. Gordon
  2. Xue Shifeng
  3. Goekhan Yigit
  4. Hicham Filali
  5. Kelan Chen
  6. Nadine Rosins
  7. Koh-ichiro Yoshiura
  8. Myriam Oufadem
  9. Tamara J. Beck
  10. Ruth McGowan
  11. Magee Alex C.
  12. Altmueller Janine
  13. Camille Dion
  14. Holger Thiele
  15. Gurzau Alexandra D.
  16. Peter Nuernberg
  17. Meschede Dieter
  18. Wolfgang Muehlbauer
  19. Okamoto Nobuhiko
  20. Varghese Vinod
  21. Rachel Irving
  22. Sigaudy Sabine
  23. Williams Denise
  24. Ahmed S. Faisal
  25. Carine Bonnard
  26. Mung Kei Kong
  27. Ratbi Ilham
  28. Fejjal Nawfal
  29. Fikri Meriem
  30. Siham Chafai Elalaoui
  31. Reigstad Hallvard
  32. Bole-Feysot Christine
  33. Patrick Nitschke
  34. Nicola Ragge
  35. Levy Nicolas
  36. Goekhan Tuncbilek
  37. Teo Audrey S. M.
  38. Cunningham Michael L.
  39. Abdelaziz Sefiani
  40. HÜLYA KAYSERİLİ KARABEY KOÇ ÜNİVERSİTESİ
  41. Murphy James M.
  42. Chatdokmaiprai Chalermpong
  43. Hillmer Axel M.
  44. Duangrurdee Wattanasirichaigoon
  45. Lyonnet Stanislas
  46. Magdinier Frederique
  47. Javed Asif
  48. Blewitt Marnie E.
  49. Jeanne Amiel
  50. Bernd Wollnik
  51. Bruno Reversade