-
Vegas, N, Demir, Z, Gordon, CT, Breton, S, Romanelli Tavares, VL, Moisset, H, Zechi-Ceide, R, Kokitsu-Nakata, NM, Kido, Y, Marlin, S, et al.
Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases..
Hum Mutat
43(5)
:
582 -594
2022
view publication
-
Goranitis, I, Wu, Y, Lunke, S, White, SM, Tan, TY, Yeung, A, Hunter, MF, Martyn, M, Gaff, C, Stark, Z.
Is faster better? An economic evaluation of rapid and ultra-rapid genomic testing in critically ill infants and children..
Genet Med
24(5)
:
1037 -1044
2022
view publication
-
Stephenson, SEM, Costain, G, Blok, LER, Silk, MA, Nguyen, TB, Dong, X, Alhuzaimi, DE, Dowling, JJ, Walker, S, Amburgey, K, et al.
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome..
Am J Hum Genet
109(4)
:
601 -617
2022
view publication
-
Listyasari, NA, Robevska, G, Ayers, KL, Tan, TY, Sinclair, AH, Faradz, SMH.
Clinical lesson learned from genetic analysis in patients prior to surgical repair of hypospadias..
Asian J Urol
9(2)
:
186 -189
2022
view publication
-
Bournazos, AM, Riley, LG, Bommireddipalli, S, Ades, L, Akesson, LS, Al-Shinnag, M, Alexander, SI, Archibald, AD, Balasubramaniam, S, Berman, Y, et al.
Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants..
Genet Med
24(1)
:
130 -145
2022
view publication