Expanding the genetic and phenotypic landscape of replication factor C complex-related disorders: RFC4 deficiency is linked to a multisystemic disorder
Morimoto, Marie, Ryu, Eunjin, Steger, Benjamin J., Dixit, Abhijit, Saito, Yoshihiko, Yoo, Juyeong, van der Ven, Amelie T., Hauser, Natalie, Steinbach, Peter J., Oura, Kazumasa, Huang, Alden Y., Kortüm, Fanny, Ninomiya, Shinsuke, Rosenthal, Elisabeth A., Robinson, Hannah K., Guegan, Katie, Denecke, Jonas, Subramony, Sankarasubramoney H., Diamonstein, Callie J., Ping, Jie, Fenner, Mark, Balton, Elsa V., Strohbehn, Sam, Allworth, Aimee, Bamshad, Michael J., Gandhi, Mahi, Dipple, Katrina M., Blue, Elizabeth E., Jarvik, Gail P., Lau, C. Christopher, Holm, Ingrid A., Weisz-Hubshman, Monika, Solomon, Benjamin D., Nelson, Stanley F., Nishino, Ichizo, Adams, David R., Kang, Sukhyun, Gahl, William A., Toro, Camilo, Myung, Kyungjae, Malicdan, May Christine V.
Published in American journal of human genetics (05.09.2024)
Published in American journal of human genetics (05.09.2024)
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Journal Article
Genetic counseling in diabetes mellitus: A practice resource of the National Society of Genetic Counselors
Maloney, Kristin A., Mizerik, Elizabeth, King, Robin H., McGinnis, Erin M., Perkowitz, Susan, Diamonstein, Callie J., Schmanski, Andrew A., Saliganan, Sheila, Shipper, Andrea G., Udler, Miriam S., Guan, Yue, Pollin, Toni I.
Published in Journal of genetic counseling (01.06.2024)
Published in Journal of genetic counseling (01.06.2024)
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Journal Article
Endosomal trafficking defects in patient cells with KIAA1109 biallelic variants
Kane, Megan S., Diamonstein, Callie J., Hauser, Natalie, Deeken, John F., Niederhuber, John E., Vilboux, Thierry
Published in Genes & diseases (01.03.2019)
Published in Genes & diseases (01.03.2019)
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Journal Article
Baraitser-Winter syndrome in a male patient with a uterus
Perez, Carolina Saldarriaga, Diamonstein, Callie, Hauser, Natalie
Published in Pediatrics (Evanston) (01.07.2020)
Published in Pediatrics (Evanston) (01.07.2020)
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Journal Article
Physicians’ Awareness and Utilization of Genetic Services in Texas
Diamonstein, Callie, Stevens, Blair, Shahrukh Hashmi, S., Refuerzo, Jerrie, Sullivan, Cathy, Hoskovec, Jennifer
Published in Journal of genetic counseling (01.08.2018)
Published in Journal of genetic counseling (01.08.2018)
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Journal Article
A case study of atypical Larsen syndrome with absent hallmark joint dislocations
Kodra, Neslida, Diamonstein, Callie, Hauser, Natalie S.
Published in Molecular genetics & genomic medicine (01.05.2019)
Published in Molecular genetics & genomic medicine (01.05.2019)
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Journal Article