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Carlston, Colleen
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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