Immediate Impact
3 from Science/Nature 60 standout
Citing Papers
Understanding the genetics of human infertility
2023 StandoutScience
Regulation of pre-mRNA splicing: roles in physiology and disease, and therapeutic prospects
2022 Standout
Works of Sylvia De Bie being referenced
Occipital horn syndrome and classical Menkes Syndrome caused by deep intronic mutations, leading to the activation of ATP7A pseudo-exon
2013
Kallmann syndrome in a patient with congenital spherocytosis and an interstitial 8p11.2 deletion
2002
Author Peers
| Author | Last Decade | Papers | Cites | ||||
|---|---|---|---|---|---|---|---|
| Sylvia De Bie | 135 | 108 | 40 | 129 | 14 | 308 | |
| Sanford J. Jensen | 186 | 55 | 21 | 202 | 11 | 330 | |
| Sira Moreno | 154 | 83 | 38 | 69 | 17 | 331 | |
| Andrea Evans | 154 | 37 | 26 | 164 | 9 | 291 | |
| Ruthann Pfau | 146 | 98 | 11 | 201 | 16 | 342 | |
| A G McGuckin | 195 | 90 | 27 | 266 | 11 | 362 | |
| Piero Pignataro | 153 | 48 | 35 | 132 | 14 | 367 | |
| Lishi Chen | 194 | 58 | 21 | 123 | 17 | 358 | |
| Kanade Katsura | 137 | 59 | 39 | 30 | 22 | 307 | |
| Fergus J. Couch | 209 | 72 | 39 | 32 | 10 | 298 | |
| Satu‐Leena Sallinen | 146 | 99 | 12 | 41 | 10 | 354 |
All Works
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