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Carlston, Colleen
51
results:
Search for persons
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Online (51)
Mediatypes
Articles (Online) (14)
Bookchapter (Online) (1)
OpenAccess-fulltext (36)
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1
Brief, Resolved, Unexplained Events Explained in a Two-mont..:
Bowen, Caitlin J.
;
Jones, Maggie J.
;
Stein, Deborah
...
The Journal of Pediatrics. , 2024
Link:
https://doi.org/10.1016/..
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2
PQN-59 antagonizes microRNA-mediated repression during post..:
Carlston, Colleen
;
Weinmann, Robin
;
Stec, Natalia
...
PLOS Genetics. 17 (2021) 11 - p. e1009599 , 2021
Link:
https://doi.org/10.1371/..
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3
Expanding the KIF4A‐associated phenotype:
Kalantari, Silvia
;
Carlston, Colleen
;
Alsaleh, Norah
...
American Journal of Medical Genetics Part A. 185 (2021) 12 - p. 3728-3739 , 2021
Link:
https://doi.org/10.1002/..
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4
Homozygous PISD truncating variant in an adult patient pres..:
Carlston, Colleen
;
Martin, Pierre-Marie
;
Archibald, Hannah
...
Molecular Genetics and Metabolism. 132 (2021) - p. S185 , 2021
Link:
https://doi.org/10.1016/..
?
5
Baraitser–Wintercerebrofrontofacial syndrome: Report of two..:
Hampshire, Karly
;
Martin, Pierre‐Marie
;
Carlston, Colleen
.
American Journal of Medical Genetics Part A. 182 (2020) 8 - p. 1923-1932 , 2020
Link:
https://doi.org/10.1002/..
?
6
Interpreting variants in genes affected by clonal hematopoi..:
Gudmundsson, Sanna
;
Carlston, Colleen M.
;
O'Donnell-Luria, Anne
Human Genetics. 143 (2023) 4 - p. 545-549 , 2023
Link:
https://doi.org/10.1007/..
?
7
De Novo ZMYND8 variants result in an autosomal dominant neu..:
Dias, Kerith-Rae
;
Carlston, Colleen M.
;
Blok, Laura E.R.
...
Genetics in Medicine. 24 (2022) 9 - p. 1952-1966 , 2022
Link:
https://doi.org/10.1016/..
?
8
Exome Sequencing Identifies a Novel SIN3A Variant in a Pati..:
Penon-Portmann, Monica
;
Carlston, Colleen M.
;
Martin, Pierre-Marie
.
Molecular Syndromology. , 2022
Link:
https://doi.org/10.1159/..
?
9
Loss of coordinated expression between ribosomal and mitoch..:
Panici, Brendan
;
Nakajima, Hosei
;
Carlston, Colleen M.
...
Genomics. 113 (2021) 4 - p. 1895-1905 , 2021
Link:
https://doi.org/10.1016/..
?
10
Diagnostic gene sequencing panels: from design to report—a ..:
Bean, Lora
;
Funke, Birgit
;
Carlston, Colleen M.
...
Genetics in Medicine. 22 (2020) 3 - p. 453-461 , 2020
Link:
https://doi.org/10.1038/..
?
11
Expanding the genetic and clinical spectrum of the NONO‐ass..:
Carlston, Colleen M.
;
Bleyl, Steven B.
;
Andrews, Ashley
...
American Journal of Medical Genetics Part A. 179 (2019) 5 - p. 792-796 , 2019
Link:
https://doi.org/10.1002/..
?
12
Three novel GJB2 (connexin 26) variants associated with aut..:
DeMille, Desiree
;
Carlston, Colleen M.
;
Tam, Oliver H.
...
American Journal of Medical Genetics Part A. 176 (2018) 4 - p. 945-950 , 2018
Link:
https://doi.org/10.1002/..
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13
Extrapolation of Variant Phase in Mitochondrial Short-Chain..:
, In:
JIMD Reports; JIMD Reports, Volume 43
,
Carlston, Colleen M.
;
Ferdinandusse, Sacha
;
Hobert, Judith A.
.. - p. 103-109 , 2018
Link:
https://doi.org/10.1007/..
?
14
The spectrum of DNMT3A variants in Tatton–Brown–Rahman synd..:
Shen, Wei
;
Heeley, Jennifer M.
;
Carlston, Colleen M.
...
American Journal of Medical Genetics Part A. 173 (2017) 11 - p. 3022-3028 , 2017
Link:
https://doi.org/10.1002/..
?
15
Variable expressivity and incomplete penetrance in a large ..:
Carlston, Colleen M.
;
Afify, Zeinab A.
;
Palumbos, Janice C.
...
American Journal of Medical Genetics Part A. 173 (2017) 10 - p. 2622-2627 , 2017
Link:
https://doi.org/10.1002/..
1-15