CRISPR: a versatile tool for both forward and reverse genetics research
Gurumurthy, Channabasavaiah B., Grati, M’hamed, Ohtsuka, Masato, Schilit, Samantha L. P., Quadros, Rolen M., Liu, Xue Zhong
Published in Human genetics (01.09.2016)
Published in Human genetics (01.09.2016)
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Journal Article
SYCP2 Translocation-Mediated Dysregulation and Frameshift Variants Cause Human Male Infertility
Schilit, Samantha L.P., Menon, Shreya, Friedrich, Corinna, Kammin, Tammy, Wilch, Ellen, Hanscom, Carrie, Jiang, Sizun, Kliesch, Sabine, Talkowski, Michael E., Tüttelmann, Frank, MacQueen, Amy J., Morton, Cynthia C.
Published in American journal of human genetics (02.01.2020)
Published in American journal of human genetics (02.01.2020)
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Journal Article
Targeted insertion of conditional expression cassettes into the mouse genome using the modified i-PITT
Miura, Hiromi, Nakamura, Ayaka, Kurosaki, Aki, Kotani, Ai, Motojima, Masaru, Tanaka, Keiko, Kakuta, Shigeru, Ogiwara, Sanae, Ohmi, Yuhsuke, Komaba, Hirotaka, Schilit, Samantha L P, Morton, Cynthia C, Gurumurthy, Channabasavaiah B, Ohtsuka, Masato
Published in BMC genomics (05.06.2024)
Published in BMC genomics (05.06.2024)
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Journal Article
Novel Loss-of-Function SYCP2 Variants in Infertile Males Upgrade the Gene-Disease Clinical Validity Classification for SYCP2 and Male Infertility to Strong
Li, Jinli, Schilit, Samantha L P, Liang, Shanshan, Qin, Ningxin, Teng, Xiaoming, Zhang, Junyu
Published in Genes (19.08.2024)
Published in Genes (19.08.2024)
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Journal Article
Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group
Schmidt, Ryan J., Steeves, Marcie, Bayrak-Toydemir, Pinar, Benson, Katherine A., Coe, Bradley P., Conlin, Laura K., Ganapathi, Mythily, Garcia, John, Gollob, Michael H., Jobanputra, Vaidehi, Luo, Minjie, Ma, Deqiong, Maston, Glenn, McGoldrick, Kelly, Palculict, T. Blake, Pesaran, Tina, Pollin, Toni I., Qian, Emily, Rehm, Heidi L., Riggs, Erin R., Schilit, Samantha L.P., Sergouniotis, Panagiotis I., Tvrdik, Tatiana, Watkins, Nicholas, Zec, Lauren, Zhang, Wenying, Lebo, Matthew S., Byrne, Alicia, Spurdle, Amanda, Palculict, Blake, Coe, Bradley, Deqiong, Ma, Lyon, Elaine, Groopman, Emily, Qian, Emily, Puffenberger, Erik, Riggs, Erin, Couch, Fergus, Maston, Glenn, Dziadzio, Hannah, Harraway, James, Mester, Jessica, Garcia, John, Lerner-Ellis, Jordan, Benson, Katherine, Avello, Kayleigh, McGoldrick, Kelly, Conlin, Laura, Zec, Lauren, Steeves, Marcie, Richardson, Marcy, Lebo, Matt, Kelly, Melissa, Gollob, Michael, Luo, Minjie, Ganapathi, Mythily, Watkins, Nicholas, Niu, Nifang, Sergouniotis, Panagiotis, Bayrak-Toydemir, Pinar, Schmidt, Ryan, Schilit, Samantha, Richards, Sarah, Pesaran, Tina, Pollin, Toni, Jobanputra, Vaidehi, Zhang, Wenying, Chen, Wuyan, Fan, Yuxin
Published in Genetics in medicine (01.03.2024)
Published in Genetics in medicine (01.03.2024)
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Journal Article
Reproductive Risk Estimation Calculator for Balanced Translocation Carriers
Trunca, Carolyn, Mendell, Nancy R, Schilit, Samantha L P
Published in Current protocols (01.12.2022)
Published in Current protocols (01.12.2022)
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Journal Article
My Identical Twin Sequenced our Genome
Schilit, Samantha L.P., Schilit Nitenson, Arielle
Published in Journal of genetic counseling (01.04.2017)
Published in Journal of genetic counseling (01.04.2017)
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Journal Article
BNC1 Promotes Spermatogenesis by Regulating Transcription of Ybx2 and Papolb via Direct Binding to Their Promotor Elements
Li, Jing-Yi, Ying, Yan-Yun, Qian, Yu-Li, Chen, Jian-Peng, Huang, Yun, Liu, Juan, Lv, Ping-Ping, Liu, Yi-Feng, Hu, Xiao-Ling, Schilit, Samantha L. P., Sheng, Jian-Zhong, Huang, He-Feng, Zhang, Dan
Published in Reproductive sciences (Thousand Oaks, Calif.) (01.03.2021)
Published in Reproductive sciences (Thousand Oaks, Calif.) (01.03.2021)
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Journal Article
A multicenter analysis of individuals with a 47,XXY/46,XX karyotype
Guess, Tiffany, Wheeler, Ferrin C., Yenamandra, Ashwini, Schilit, Samantha L.P., Anderson, Hannah S., Bone, Kathleen M., Carstens, Billie, Conlin, Laura, Dulik, Matthew C., Dupont, Barbra R., Fanning, Elizabeth, Gardner, Juli-Anne, Haag, Mary, Hilton, Benjamin A., Johnson, Jill, Kogan, Jillene, Murry, Jacyln, Polonis, Katarzyna, Quigley, Denise I., Repnikova, Elena A., Rowsey, Ross A., Spinner, Nancy, Stoeker, Mikayla, Thurston, Virginia, Wiley, Margaret, Zhang, Lei
Published in Genetics in medicine (01.10.2024)
Published in Genetics in medicine (01.10.2024)
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Journal Article
Genome-wide association study meta-analysis of dizygotic twinning illuminates genetic regulation of female fecundity
Mbarek, Hamdi, Gordon, Scott D, Duffy, David L, Hubers, Nikki, Mortlock, Sally, Beck, Jeffrey J, Hottenga, Jouke-Jan, Pool, René, Dolan, Conor V, Actkins, Ky’Era V, Gerring, Zachary F, Van Dongen, Jenny, Ehli, Erik A, Iacono, William G, Mcgue, Matt, Chasman, Daniel I, Gallagher, C Scott, Schilit, Samantha L P, Morton, Cynthia C, Paré, Guillaume, Willemsen, Gonneke, Whiteman, David C, Olsen, Catherine M, Derom, Catherine, Vlietinck, Robert, Gudbjartsson, Daniel, Cannon-Albright, Lisa, Krapohl, Eva, Plomin, Robert, Magnusson, Patrik K E, Pedersen, Nancy L, Hysi, Pirro, Mangino, Massimo, Spector, Timothy D, Palviainen, Teemu, Milaneschi, Yuri, Penninnx, Brenda W, Campos, Adrian I, Ong, Ken K, Perry, John R B, Lambalk, Cornelis B, Kaprio, Jaakko, Ólafsson, Ísleifur, Duroure, Karine, Revenu, Céline, Rentería, Miguel E, Yengo, Loic, Davis, Lea, Derks, Eske M, Medland, Sarah E, Stefansson, Hreinn, Stefansson, Kari, Del Bene, Filippo, Reversade, Bruno, Montgomery, Grant W, Boomsma, Dorret I, Martin, Nicholas G
Published in Human reproduction (Oxford) (05.01.2024)
Published in Human reproduction (Oxford) (05.01.2024)
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Journal Article
Estrogen-related receptor gamma implicated in a phenotype including hearing loss and mild developmental delay
Schilit, Samantha Lp, Currall, Benjamin B, Yao, Ruen, Hanscom, Carrie, Collins, Ryan L, Pillalamarri, Vamsee, Lee, Dong-Young, Kammin, Tammy, Zepeda-Mendoza, Cinthya J, Mononen, Tarja, Nolan, Lisa S, Gusella, James F, Talkowski, Michael E, Shen, Jun, Morton, Cynthia C
Published in European journal of human genetics : EJHG (01.11.2016)
Published in European journal of human genetics : EJHG (01.11.2016)
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Journal Article
O31: Risk allele evidence curation, classification, and reporting: Recommendations from the ClinGen Low Penetrance/Risk Allele Working Group
Lebo, Matthew, Steeves, Marcie, Benson, Katherine, Conlin, Laura, Ganapathi, Mythily, Jobanputra, Vaidehi, Luo, Minjie, Ma, Deqiong, McGoldrick, Kelly, Palculict, Blake, Rehm, Heidi, Sergouniotis, Panagiotis, Schilit, Samantha, Bayrak-Toydemir, Pinar, Tvrdik, Tatiana, Watkins, Nicholas, Zec, Lauren, Zhang, Wenying Zhang, Schmidt, Ryan
Published in Genetics in Medicine Open (2023)
Published in Genetics in Medicine Open (2023)
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Journal Article
Pronuclear Injection-Based Targeted Transgenesis
Schilit, Samantha L P, Ohtsuka, Masato, Quadros, Rolen M, Gurumurthy, Channabasavaiah B
Published in Current protocols in human genetics (11.10.2016)
Published in Current protocols in human genetics (11.10.2016)
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Journal Article
eP395: Calculating recurrence risk in an individual with an intrachromosomal structural rearrangement
Schilit, Samantha, Bell, Avery, Rowsey, Ross, Sassaman, Abby, Galinsky, Andrew, Studwell, Courtney, Mason-Suares, Heather
Published in Genetics in medicine (01.03.2022)
Published in Genetics in medicine (01.03.2022)
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Journal Article
Chromosomal microarray testing of products of conception tissues: experiences from a hospital cytogenetics laboratory
Schilit, Samantha, Studwell, Courtney, Flatley, Pamela, Listewnik, Marc, Mertens, Lauren, Ligon, Azra, Mason-Suares, Heather
Published in Molecular genetics and metabolism (01.04.2021)
Published in Molecular genetics and metabolism (01.04.2021)
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Journal Article
eP481 - Chromosomal microarray testing of products of conception tissues: experiences from a hospital cytogenetics laboratory
Schilit, Samantha, Studwell, Courtney, Flatley, Pamela, Listewnik, Marc, Mertens, Lauren, Ligon, Azra, Mason-Suares, Heather
Published in Molecular genetics and metabolism (01.04.2021)
Published in Molecular genetics and metabolism (01.04.2021)
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Journal Article
SYCP2 translocation-mediated dysregulation and frameshift variants cause human male infertility
Samantha Lp Schilit, Menon, Shreya, Friedrich, Corinna, Kammin, Tammy, Wilch, Ellen, Hanscom, Carrie, Jiang, Sizun, Kliesch, Sabine, Talkowski, Michael E, Tüttelmann, Frank, Macqueen, Amy J, Morton, Cynthia C
Published in bioRxiv (17.05.2019)
Published in bioRxiv (17.05.2019)
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