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| Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of function M Zilmer, AC Edmondson, SA Khetarpal, V Alesi, MS Zaki, K Rostasy, ... Brain 143 (4), 1114-1126, 2020 | 64 | 2020 |
| Loss of SMPD4 causes a developmental disorder characterized by microcephaly and congenital arthrogryposis P Magini, DJ Smits, L Vandervore, R Schot, M Columbaro, E Kasteleijn, ... The American Journal of Human Genetics 105 (4), 689-705, 2019 | 58 | 2019 |
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| Homozygous mutations in TBC1D23 lead to a non-degenerative form of pontocerebellar hypoplasia I Marin-Valencia, A Gerondopoulos, MS Zaki, T Ben-Omran, M Almureikhi, ... The American Journal of Human Genetics 101 (3), 441-450, 2017 | 52 | 2017 |
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Joseph G. GleesonUniversity of California, San DiegoVerified email at ucsd.edu