Expanding the genetic and clinical spectrum of the NONO‐associated X‐linked intellectual disability syndrome
Carlston, Colleen M., Bleyl, Steven B., Andrews, Ashley, Meyers, Lindsay, Brown, Sara, Bayrak‐Toydemir, Pinar, Bale, James F., Botto, Lorenzo D.
Published in American journal of medical genetics. Part A (01.05.2019)
Published in American journal of medical genetics. Part A (01.05.2019)
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Journal Article
Interpreting variants in genes affected by clonal hematopoiesis in population data
Gudmundsson, Sanna, Carlston, Colleen M., O’Donnell-Luria, Anne
Published in Human genetics (01.04.2024)
Published in Human genetics (01.04.2024)
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Journal Article
Diagnostic gene sequencing panels: from design to report—a technical standard of the American College of Medical Genetics and Genomics (ACMG)
Bean, Lora, Funke, Birgit, Carlston, Colleen M., Gannon, Jennifer L., Kantarci, Sibel, Krock, Bryan L., Zhang, Shulin, Bayrak-Toydemir, Pinar
Published in Genetics in medicine (01.03.2020)
Published in Genetics in medicine (01.03.2020)
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Journal Article
Loss of coordinated expression between ribosomal and mitochondrial genes revealed by comprehensive characterization of a large family with a rare Mendelian disorder
Panici, Brendan, Nakajima, Hosei, Carlston, Colleen M., Ozadam, Hakan, Cenik, Can, Cenik, Elif Sarinay
Published in Genomics (San Diego, Calif.) (01.07.2021)
Published in Genomics (San Diego, Calif.) (01.07.2021)
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Journal Article
Pathogenic ASXL1 somatic variants in reference databases complicate germline variant interpretation for Bohring–Opitz Syndrome
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
Published in Human mutation (01.05.2017)
Published in Human mutation (01.05.2017)
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Journal Article
The spectrum of DNMT3A variants in Tatton–Brown–Rahman syndrome overlaps with that in hematologic malignancies
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., Shinawi, Marwan, Carey, John C.
Published in American journal of medical genetics. Part A (01.11.2017)
Published in American journal of medical genetics. Part A (01.11.2017)
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Journal Article
Delayed Environmental Enrichment Reverses Sevoflurane-induced Memory Impairment in Rats
SHIH, Jennifer, MAY, Laura D. V, WOODWARD, Elliott, KANG, Heejae, WILK, Alan J, CARLSTON, Colleen M, MENDOZA, Mortay V, GUGGENHEIM, Jeremy N, SCHAEFER, Maximilian, ROWE, Allison M, STRATMANN, Greg, GONZALEZ, Heidi E, LEE, Elaine W, ALVI, Rehan S, SALL, Jeffrey W, RAU, Vinuta, BICKLER, Philip E, LALCHANDANI, Gopal R, YUSUPOVA, Marianna
Published in Anesthesiology (Philadelphia) (01.03.2012)
Published in Anesthesiology (Philadelphia) (01.03.2012)
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Journal Article
Extrapolation of Variant Phase in Mitochondrial Short-Chain Enoyl-CoA Hydratase (ECHS1) Deficiency
Carlston, Colleen M., Ferdinandusse, Sacha, Hobert, Judith A., Mao, Rong, Longo, Nicola
Published in JIMD Reports, Volume 43 (2019)
Published in JIMD Reports, Volume 43 (2019)
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Book Chapter
Journal Article
Variable expressivity and incomplete penetrance in a large family with non‐classical Diamond‐Blackfan anemia associated with ribosomal protein L11 splicing variant
Carlston, Colleen M., Afify, Zeinab A., Palumbos, Janice C., Bagley, Heidi, Barbagelata, Carlos, Wooderchak‐Donahue, Whitney L., Mao, Rong, Carey, John C.
Published in American journal of medical genetics. Part A (01.10.2017)
Published in American journal of medical genetics. Part A (01.10.2017)
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Journal Article
Three novel GJB2 (connexin 26) variants associated with autosomal dominant syndromic and nonsyndromic hearing loss
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.
Published in American journal of medical genetics. Part A (01.04.2018)
Published in American journal of medical genetics. Part A (01.04.2018)
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Journal Article
Diagnostic gene sequencing panels: from design to report—atechnical standard of the American College of Medical Genetics and Genomics(ACMG)
Bean Lora J H, Funke Birgit, Carlston, Colleen M, Gannon, Jennifer L, Kantarci Sibel, Krock, Bryan L, Zhang, Shulin, Bayrak-Toydemir Pinar
Published in Genetics in medicine (01.03.2020)
Published in Genetics in medicine (01.03.2020)
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Journal Article
De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations
Dias, Kerith-Rae, Carlston, Colleen M., Blok, Laura E.R., De Hayr, Lachlan, Nawaz, Urwah, Evans, Carey-Anne, Bayrak-Toydemir, Pinar, Htun, Stephanie, Zhu, Ying, Ma, Alan, Lynch, Sally Ann, Moorwood, Catherine, Stals, Karen, Ellard, Sian, Bainbridge, Matthew N., Friedman, Jennifer, Pappas, John G., Rabin, Rachel, Nowak, Catherine B., Douglas, Jessica, Wilson, Theodore E., Guillen Sacoto, Maria J., Mullegama, Sureni V., Palculict, Timothy Blake, Kirk, Edwin P., Pinner, Jason R., Edwards, Matthew, Montanari, Francesca, Graziano, Claudio, Pippucci, Tommaso, Dingmann, Bri, Glass, Ian, Mefford, Heather C., Shimoji, Takeyoshi, Suzuki, Toshimitsu, Yamakawa, Kazuhiro, Streff, Haley, Schaaf, Christian P., Slavotinek, Anne M., Voineagu, Irina, Carey, John C., Buckley, Michael F., Schenck, Annette, Harvey, Robert J., Roscioli, Tony
Published in Genetics in medicine (01.09.2022)
Published in Genetics in medicine (01.09.2022)
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Journal Article
Pathogenic ASXL1 somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz Syndrome: CARLSTON et al
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
Published in Human mutation (01.05.2017)
Published in Human mutation (01.05.2017)
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Journal Article
Loss of coordinated expression between ribosomal and mitochondrial genes revealed by comprehensive characterization of a large family with a rare mendelian disorder
Panici, Brendan, Nakajima, Hosei, Carlston, Colleen M, Ozadam, Hakan, Cenik, Can, Cenik, Elif Sarinay
Published in bioRxiv (26.11.2020)
Published in bioRxiv (26.11.2020)
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Paper
Pathogenic ASXL1 somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz Syndrome
Carlston, Colleen M, O'donnell-Luria, Anne, Underhill, Hunter R, Cummings, Beryl B, Weisburd, Ben, Minikel, Eric V, Birnbaum, Daniel P, Consortium, Exome Aggregation, Tvrdik, Tatiana, Macarthur, Daniel G, Mao, Rong
Published in bioRxiv (07.12.2016)
Published in bioRxiv (07.12.2016)
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Paper