Identification of Neuropsychiatric Copy Number Variants in a Health Care System Population
Martin, Christa Lese, Wain, Karen E, Oetjens, Matthew T, Tolwinski, Kasia, Palen, Emily, Hare-Harris, Abby, Habegger, Lukas, Maxwell, Evan K, Reid, Jeffrey G, Walsh, Lauren Kasparson, Myers, Scott M, Ledbetter, David H
Published in JAMA psychiatry (Chicago, Ill.) (01.12.2020)
Published in JAMA psychiatry (Chicago, Ill.) (01.12.2020)
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The value of genomic variant ClinVar submissions from clinical providers: Beyond the addition of novel variants
Wain, Karen E., Palen, Emily, Savatt, Juliann M., Shuman, Devin, Finucane, Brenda, Seeley, Andrea, Challman, Thomas D., Myers, Scott M., Martin, Christa Lese
Published in Human mutation (01.11.2018)
Published in Human mutation (01.11.2018)
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Expanding the KIF4A‐associated phenotype
Kalantari, Silvia, Carlston, Colleen, Alsaleh, Norah, Abdel‐Salam, Ghada M. H., Alkuraya, Fowzan, Kato, Mitsuhiro, Matsumoto, Naomichi, Miyatake, Satoko, Yamamoto, Tatsuya, Fares‐Taie, Lucas, Rozet, Jean‐Michel, Chassaing, Nicolas, Vincent‐Delorme, Catherine, Kang‐Bellin, Anjeung, McWalter, Kirsty, Bupp, Caleb, Palen, Emily, Wagner, Monisa D., Niceta, Marcello, Cesario, Claudia, Milone, Roberta, Kaplan, Julie, Wadman, Erin, Dobyns, William B., Filges, Isabel
Published in American journal of medical genetics. Part A (01.12.2021)
Published in American journal of medical genetics. Part A (01.12.2021)
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Population Genomic Screening for Genetic Etiologies of Neurodevelopmental/Psychiatric Disorders Demonstrates Personal Utility and Positive Participant Responses
Wain, Karen E., Tolwinski, Kasia, Palen, Emily, Heidlebaugh, Alexis R., Holdren, Karahlyn, Walsh, Lauren Kasparson, Oetjens, Matthew T., Ledbetter, David H., Martin, Christa Lese
Published in Journal of personalized medicine (01.05.2021)
Published in Journal of personalized medicine (01.05.2021)
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BEYOND MEDICAL ACTIONABILITY: PERSONAL UTILITY OF KNOWING A GENETIC ETIOLOGY
Finucane, Brenda, Martin, Christa, Wain, Karen, Palen, Emily, Ledbetter, David
Published in European neuropsychopharmacology (01.10.2019)
Published in European neuropsychopharmacology (01.10.2019)
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Recontacting registry participants with genetic updates through GenomeConnect, the ClinGen patient registry
Savatt, Juliann M, Azzariti, Danielle R, Ledbetter, David H, Palen, Emily, Rehm, Heidi L, Riggs, Erin Rooney, Martin, Christa Lese
Published in Genetics in medicine (01.09.2021)
Published in Genetics in medicine (01.09.2021)
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ClinGen's GenomeConnect registry enables patient‐centered data sharing
Savatt, Juliann M., Azzariti, Danielle R., Faucett, W. Andrew, Harrison, Steven, Hart, Jennifer, Kattman, Brandi, Landrum, Melissa J., Ledbetter, David H., Miller, Vanessa Rangel, Palen, Emily, Rehm, Heidi L., Rhode, Jud, Turner, Stefanie, Vidal, Jo Anne, Wain, Karen E., Riggs, Erin Rooney, Martin, Christa Lese
Published in Human mutation (01.11.2018)
Published in Human mutation (01.11.2018)
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IDENTIFICATION AND RESULTS DISCLOSURE: OF RARE, PATHOGENIC COPY NUMBER VARIANTS TO ADULT RESEARCH PARTICIPANTS WITH DEVELOPMENTAL BRAIN DISORDERS
Finucane, Brenda, Wain, Karen, Palen, Emily, Kasparson, Lauren, Hare-Harris, Abby, Overton, John, Habegger, Lukas, Maxwell, Evan, Reid, Jeffrey, Martin, Christa L., Ledbetter, David H.
Published in European neuropsychopharmacology (2019)
Published in European neuropsychopharmacology (2019)
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Heterozygous variants in SPTBN1 cause intellectual disability and autism
Rosenfeld, Jill A., Xiao, Rui, Bekheirnia, Mir Reza, Kanani, Farah, Parker, Michael J., Koenig, Mary K., Haeringen, Arie, Ruivenkamp, Claudia, Rosmaninho‐Salgado, Joana, Almeida, Pedro M., Sá, Joaquim, Pinto Basto, Jorge, Palen, Emily, Oetjens, Kathryn F., Burrage, Lindsay C., Xia, Fan, Liu, Pengfei, Eng, Christine M., Yang, Yaping, Posey, Jennifer E., Lee, Brendan H.
Published in American journal of medical genetics. Part A (01.07.2021)
Published in American journal of medical genetics. Part A (01.07.2021)
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Expanding the phenotype of ASXL3‐related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3
Schirwani, Schaida, Albaba, Shadi, Carere, Deanna Alexis, Guillen Sacoto, Maria J., Milan Zamora, Francisca, Si, Yue, Rabin, Rachel, Pappas, John, Renaud, Deborah L., Hauser, Natalie, Reid, Evan, Blanchet, Patricia, Foulds, Nichola, Dixit, Abhijit, Fisher, Richard, Armstrong, Ruth, Isidor, Bertrand, Cogne, Benjamin, Schrier Vergano, Samantha, Demirdas, Serwet, Dykzeul, Natalie, Cohen, Julie S., Grand, Katheryn, Morel, Dayna, Slavotinek, Anne, Albassam, Hessa F., Naik, Swati, Dean, John, Ragge, Nicola, Cinzia, Costa, Tedesco, Maria Giovanna, Harrison, Rachel E., Bouman, Arjan, Palen, Emily, Challman, Thomas D., Willemsen, Marjolein H., Vogt, Julie, Cunniff, Christopher, Bergstrom, Katherine, Walia, Jagdeep S., Bruel, Ange‐Line, Kini, Usha, Alkuraya, Fowzan S., Slegesky, Valerie, Meeks, Naomi, Girotto, Paula, Johnson, Diana, Newbury‐Ecob, Ruth, Ockeloen, Charlotte W., Prontera, Paolo, Lynch, Sally Ann, Li, Dong, Graham, John M., Balasubramanian, Meena
Published in American journal of medical genetics. Part A (01.11.2021)
Published in American journal of medical genetics. Part A (01.11.2021)
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