Carey-Anne Evans
发表
Carey-Anne Evans,
2010
.
E. Zackai,
S. Grant,
T. Roscioli,
2020
.
T. Groza,
J. Mattick,
T. Roscioli,
2020,
Journal of Medical Genetics.
R. Pfundt,
M. Reijnders,
G. Meister,
2020,
Nature Communications.
H. Mefford,
K. Yamakawa,
M. Bainbridge,
2022,
Genetics in medicine : official journal of the American College of Medical Genetics.
M. Cowley,
M. Dinger,
A. Minoche,
2022,
European Journal of Human Genetics.
CBX1 mutations cause a neurodevelopmental syndrome due to heterochromatin organizational alterations
E. Zackai,
S. Grant,
T. Roscioli,
2020
.
P. Lockhart,
I. Scheffer,
H. Mefford,
2022,
American journal of human genetics.
T. Roscioli,
J. Pinner,
D. Mowat,
2019,
American journal of medical genetics. Part A.
Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly.
J. Rosenfeld,
E. Roeder,
J. Lupski,
2023,
American journal of human genetics.
Maeson S. Latsko,
E. Zackai,
D. Koboldt,
2023,
bioRxiv.
Clinically Responsive Genomic Analysis Pipelines: Elements to improve detection rate and efficiency.
S. Sandaradura,
T. Roscioli,
J. Fletcher,
2021,
The Journal of molecular diagnostics : JMD.
Maeson S. Latsko,
D. Koboldt,
C. Obuse,
2023,
Genetics in medicine : official journal of the American College of Medical Genetics.