Colleen M. Carlston

ScholarGPS® ID: 58036798136308

Affiliation
University of California, San Francisco, San Francisco, United States
Affiliation History

Field
Medicine
Discipline
Pediatrics
Top Specialties
Medical Genetics | Hearing Loss
Metrics Summary
Publication Count
14
Predicted Citations
489
Predicted h-index
8
Ranking

Publications and Citation History

Publications based on Top Specialties

Types of Publication

  • Publications
  • Books
  • Patents
  • NIH/NSF
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Exome Sequencing Identifies a Novel <b><i>SIN3A</i></b> Variant in a Patient with Witteveen-Kolk Syndrome (journal article)
Penon-Portmann, Monica | Carlston, Colleen M. | Martin, Pierre-Marie | Slavotinek, Anne
Molecular Syndromology (2022).
10.1159/000520042
Cite | Source
Expanding the KIF4A ‐associated phenotype (journal article)
Kalantari, Silvia | Carlston, Colleen | Alsaleh, Norah | Abdel‐Salam, Ghada M. H. | Alkuraya, Fowzan | Kato, Mitsuhiro | Matsumoto, Naomichi | Miyatake, Satoko | Yamamoto, Tatsuya | Fares‐Taie, Lucas | ... | Filges, Isabel
American Journal of Medical Genetics Part A, volume 185, issue 12, pages 3728-3739 (2021).
10.1002/ajmg.a.62443
Cited by (5) | Cite | Source
PQN-59 antagonizes microRNA-mediated repression during post-embryonic temporal patterning and modulates translation and stress granule formation in C. elegans (journal article)
Carlston, Colleen | Weinmann, Robin | Stec, Natalia | Abbatemarco, Simona | Schwager, Francoise | Wang, Jing | Ouyang, Huiwu | Ewald, Collin Y. | Gotta, Monica | Hammell, Christopher M.
PLOS Genetics, volume 17, issue 11, pages e1009599- (2021).
10.1371/journal.pgen.1009599
Cited by (5) | Cite | Source
Loss of coordinated expression between ribosomal and mitochondrial genes revealed by comprehensive characterization of a large family with a rare Mendelian disorder (journal article)
Panici, Brendan | Nakajima, Hosei | Carlston, Colleen M. | Ozadam, Hakan | Cenik, Can | Cenik, Elif Sarinay
Genomics, volume 113, issue 4, pages 1895-1905 (2021).
10.1016/j.ygeno.2021.04.020
Cited by (2) | Cite | Source
Homozygous PISD truncating variant in an adult patient presenting with chronic dysphagia, hoarseness, pectus carinatum, hearing loss, and hemiparesis (journal article)
Carlston, Colleen | Martin, Pierre-Marie | Archibald, Hannah | Wamsley, Maria | Greene, Maxwell | Vogel, Hannes | Slavotinek, Anne
Molecular Genetics and Metabolism, volume 132 (2021).
10.1016/S1096-7192(21)00375-9
Cite | Source
Baraitser–Winter cerebrofrontofacial syndrome: Report of two adult siblings (journal article)
Hampshire, Karly | Martin, Pierre‐Marie | Carlston, Colleen | Slavotinek, Anne
American Journal of Medical Genetics Part A, volume 182, issue 8, pages 1923-1932 (2020).
10.1002/ajmg.a.61637
Cited by (2) | Cite | Source
Diagnostic gene sequencing panels: from design to report—a technical standard of the American College of Medical Genetics and Genomics (ACMG) (journal article)
Bean, Lora | Funke, Birgit | Carlston, Colleen M. | Gannon, Jennifer L. | Kantarci, Sibel | Krock, Bryan L. | Zhang, Shulin | Bayrak-Toydemir, Pinar
Genetics in Medicine, volume 22, issue 3, pages 453-461 (2020).
10.1038/s41436-019-0666-z
Cited by (76) | Cite | Source
Expanding the genetic and clinical spectrum of the NONO‐associated X‐linked intellectual disability syndrome (journal article)
Carlston, Colleen M. | Bleyl, Steven B. | Andrews, Ashley | Meyers, Lindsay | Brown, Sara | Bayrak‐Toydemir, Pinar | Bale, James F. | Botto, Lorenzo D.
American Journal of Medical Genetics Part A, volume 179, issue 5, pages 792-796 (2019).
10.1002/ajmg.a.61091
Cited by (20) | Cite | Source
Three novel GJB2 (connexin 26) variants associated with autosomal dominant syndromic and nonsyndromic hearing loss (journal article)
DeMille, Desiree | Carlston, Colleen M. | Tam, Oliver H. | Palumbos, Janice C. | Stalker, Heather J. | Mao, Rong | Zori, Roberto T. | Viskochil, David H. | Park, Albert H. | Carey, John C.
American Journal of Medical Genetics Part A, volume 176, issue 4, pages 945-950 (2018).
10.1002/ajmg.a.38648
Cited by (7) | Cite | Source
Extrapolation of Variant Phase in Mitochondrial Short-Chain Enoyl-CoA Hydratase (ECHS1) Deficiency (book chapter)
In JIMD Reports
Carlston, Colleen M. | Ferdinandusse, Sacha | Hobert, Judith A. | Mao, Rong | Longo, Nicola
Springer Berlin Heidelberg (2018)
10.1007/8904_2018_111
Cited by (14) | Cite | Source
The spectrum of DNMT3A variants in Tatton–Brown–Rahman syndrome overlaps with that in hematologic malignancies (journal article)
Shen, Wei | Heeley, Jennifer M. | Carlston, Colleen M. | Acuna‐Hidalgo, Rocio | Nillesen, Willy M. | Dent, Karin M. | Douglas, Ganka V. | Levine, Kara L. | Bayrak‐Toydemir, Pinar | Marcelis, Carlo L. | ... | Carey, John C.
American Journal of Medical Genetics Part A, volume 173, issue 11, pages 3022-3028 (2017).
10.1002/ajmg.a.38485
Cited by (41) | Cite | Source
Variable expressivity and incomplete penetrance in a large family with non‐classical Diamond‐Blackfan anemia associated with ribosomal protein L11 splicing variant (journal article)
Carlston, Colleen M. | Afify, Zeinab A. | Palumbos, Janice C. | Bagley, Heidi | Barbagelata, Carlos | Wooderchak‐Donahue, Whitney L. | Mao, Rong | Carey, John C.
American Journal of Medical Genetics Part A, volume 173, issue 10, pages 2622-2627 (2017).
10.1002/ajmg.a.38360
Cited by (12) | Cite | Source
Pathogenic ASXL1 somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz Syndrome (journal article)
Carlston, Colleen M. | O'Donnell-Luria, Anne H. | Underhill, Hunter R. | Cummings, Beryl B. | Weisburd, Ben | Minikel, Eric V. | Birnbaum, Daniel P. | Tvrdik, Tatiana | MacArthur, Daniel G. | Mao, Rong
Human Mutation, volume 38, issue 5, pages 517-523 (2017).
10.1002/humu.23203
Cited by (43) | Cite | Source | Open Access
Delayed Environmental Enrichment Reverses Sevoflurane-induced Memory Impairment in Rats (journal article)
Shih, Jennifer | May, Laura D. V. | Gonzalez, Heidi E. | Lee, Elaine W. | Alvi, Rehan S. | Sall, Jeffrey W. | Rau, Vinuta | Bickler, Philip E. | Lalchandani, Gopal R. | Yusupova, Marianna | ... | Stratmann, Greg
Anesthesiology, volume 116, issue 3, pages 586-602 (2012).
10.1097/ALN.0b013e318247564d
Cited by (142) | Cite | Source | Open Access