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Jayasinghe, K, White, SM, Kerr, PG, MacGregor, D, Stark, Z, Wilkins, E, Simons, C, Mallett, A, Quinlan, C.
Isolated proteinuria due to CUBN homozygous mutation – challenging the investigative paradigm.
BMC Nephrology
20(1)
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330
2019
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Tan, NB, Tan, TY, Martyn, MM, Savarirayan, R, Amor, DJ, Moody, A, White, SM, Stark, Z.
Diagnostic and service impact of genomic testing technologies in a neonatal intensive care unit.
Journal of Paediatrics and Child Health
55(11)
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1309 -1314
2019
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Schofield, D, Rynehart, L, Shresthra, R, White, SM, Stark, Z.
Long-term economic impacts of exome sequencing for suspected monogenic disorders: diagnosis, management, and reproductive outcomes.
Genetics in Medicine
21(11)
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2586 -2593
2019
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Raible, SE, Mehta, D, Bettale, C, Fiordaliso, S, Kaur, M, Medne, L, Rio, M, Haan, E, White, SM, Cusmano‐Ozog, K, et al.
Clinical and molecular spectrum of CHOPS syndrome.
American Journal of Medical Genetics Part A
179(7)
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1126 -1138
2019
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Bauer, CK, Schneeberger, PE, Kortüm, F, Altmüller, J, Santos-Simarro, F, Baker, L, Keller-Ramey, J, White, SM, Campeau, PM, Gripp, KW, et al.
Gain-of-Function Mutations in KCNN3 Encoding the Small-Conductance Ca2+-Activated K+ Channel SK3 Cause Zimmermann-Laband Syndrome.
American Journal of Human Genetics
104(6)
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1139 -1157
2019
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