Novel homozygous variant in WISP3 in a family with unrecognized progressive pseudorheumatoid dysplasia by Chandreshkumar Patel, Anas M. Khanshour, David Wilkes, Jonathan J. Rios, Kelly W. Sheff, Lorien Nassi, Carol A. Wise

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Interrogating Causal Effects of Body Composition and Puberty‐Related Risk Factors on Adolescent Idiopathic Scoliosis: A Two‐Sample Mendelian Randomization Study by Faegheh Ghanbari, Nao Otomo, Isabel Gamache, Takuro Iwami, Yoshinao Koike, Anas M. Khanshour, Shiro Ikegawa, Carol A. Wise, Chikashi Terao, Despoina Manousaki

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Deletion of Pax1 scoliosis-associated regulatory elements leads to a female-biased tail abnormality by Aki Ushiki, Rory R. Sheng, Yichi Zhang, Jingjing Zhao, Mai Nobuhara, Elizabeth Murray, Xin Ruan, Jonathan J. Rios, Carol A. Wise, Nadav Ahituv

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Saturation mutagenesis defines novel mouse models of severe spine deformity by Jonathan J. Rios, Kristin Denton, Hao Yu, Kandamurugu Manickam, Shannon Garner, Jamie Russell, Sara Ludwig, Jill A. Rosenfeld, Pengfei Liu, Jake Munch, Daniel J. Sucato, Bruce Beutler, Carol A. Wise

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Deep Learning-Based Automated Measurement of Murine Bone Length in Radiographs by Ruichen Rong, Kristin Denton, Kevin W. Jin, Peiran Quan, Zhuoyu Wen, Julia Kozlitina, Stephen Lyon, Aileen Wang, Carol A. Wise, Bruce Beutler, Donghan M. Yang, Qiwei Li, Jonathan J. Rios, Guanghua Xiao

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Evidence of causality of low body mass index on risk of adolescent idiopathic scoliosis: a Mendelian randomization study by Nao Otomo, Nao Otomo, Nao Otomo, Anas M. Khanshour, Masaru Koido, Masaru Koido, Kazuki Takeda, Yukihide Momozawa, Michiaki Kubo, Yoichiro Kamatani, Yoichiro Kamatani, John A. Herring, John A. Herring, Yoji Ogura, Yohei Takahashi, Shohei Minami, Koki Uno, Noriaki Kawakami, Manabu Ito, Tatsuya Sato, Kei Watanabe, Takashi Kaito, Haruhisa Yanagida, Hiroshi Taneichi, Katsumi Harimaya, Yuki Taniguchi, Hideki Shigematsu, Takahiro Iida, Takahiro Iida, Satoru Demura, Ryo Sugawara, Nobuyuki Fujita, Nobuyuki Fujita, Mitsuru Yagi, Mitsuru Yagi, Eijiro Okada, Naobumi Hosogane, Naobumi Hosogane, Katsuki Kono, Katsuki Kono, Masaya Nakamura, Kazuhiro Chiba, Kazuhiro Chiba, Toshiaki Kotani, Tsuyoshi Sakuma, Tsutomu Akazawa, Teppei Suzuki, Kotaro Nishida, Kenichiro Kakutani, Taichi Tsuji, Hideki Sudo, Akira Iwata, Satoshi Inami, Carol A. Wise, Carol A. Wise, Carol A. Wise, Yuta Kochi, Morio Matsumoto, Shiro Ikegawa, Kota Watanabe, Chikashi Terao, Chikashi Terao, Chikashi Terao

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Biallelic SLC13A1 loss-of-function variants result in impaired sulfate transport and skeletal phenotypes, including short stature, scoliosis, and skeletal dysplasia by Christina G. Tise, Katie Ashton, Lachlan de Hayr, Kun-Di Lee, Omkar L. Patkar, Emma Krzesinski, Jennifer A. Bassetti, Erin M. Carter, Cathleen Raggio, Andreas Zankl, Anas M. Khanshour, Kristhen N. Atala, Jonathan J. Rios, Carol A. Wise, Ying Zhu, Futao Zhang, Tony Roscioli, Michael Buckley, Robert J. Harvey, Paul A. Dawson

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Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis by Hao Yu, Anas M Khanshour, Aki Ushiki, Nao Otomo, Yoshinao Koike, Elisabet Einarsdottir, Yanhui Fan, Lilian Antunes, Yared H Kidane, Reuel Cornelia, Rory R Sheng, Yichi Zhang, Jimin Pei, Nick V Grishin, Bret M Evers, Jason Pui Yin Cheung, John A Herring, Chikashi Terao, You-qiang Song, Christina A Gurnett, Paul Gerdhem, Shiro Ikegawa, Jonathan J Rios, Nadav Ahituv, Carol A Wise

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Regulatory polymorphisms modulate the expression of HLA class II molecules and promote autoimmunity by Prithvi Raj, Ekta Rai, Ran Song, Shaheen Khan, Benjamin E Wakeland, Kasthuribai Viswanathan, Carlos Arana, Chaoying Liang, Bo Zhang, Igor Dozmorov, Ferdicia Carr-Johnson, Mitja Mitrovic, Graham B Wiley, Jennifer A Kelly, Bernard R Lauwerys, Nancy J Olsen, Chris Cotsapas, Christine K Garcia, Carol A Wise, John B Harley, Swapan K Nath, Judith A James, Chaim O Jacob, Betty P Tsao, Chandrashekhar Pasare, David R Karp, Quan Zhen Li, Patrick M Gaffney, Edward K Wakeland

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Rare variant enrichment analysis supports GREB1L as a contributory driver gene in the etiology of Mayer-Rokitansky-Küster-Hauser syndrome by Angad Jolly, Haowei Du, Christelle Borel, Na Chen, Sen Zhao, Christopher M. Grochowski, Ruizhi Duan, Jawid M. Fatih, Moez Dawood, Sejal Salvi, Shalini N. Jhangiani, Donna M. Muzny, André Koch, Konstantinos Rouskas, Stavros Glentis, Efthymios Deligeoroglou, Flora Bacopoulou, Carol A. Wise, Jennifer E. Dietrich, Ignatia B. Van den Veyver, Antigone S. Dimas, Sara Brucker, V. Reid Sutton, Richard A. Gibbs, Stylianos E. Antonarakis, Nan Wu, Zeynep H. Coban-Akdemir, Lan Zhu, Jennifer E. Posey, James R. Lupski

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