GIGYF1 disruption associates with autism and impaired IGF-1R signaling
Chen, Guodong, Yu, Bin, Tan, Senwei, Tan, Jieqiong, Jia, Xiangbin, Zhang, Qiumeng, Zhang, Xiaolei, Jiang, Qian, Hua, Yue, Han, Yaoling, Luo, Shengjie, Hoekzema, Kendra, Bernier, Raphael A, Earl, Rachel K, Kurtz-Nelson, Evangeline C, Idleburg, Michaela J, Madan-Khetarpal, Suneeta, Clark, Rebecca, Sebastian, Jessica, Fernandez-Jaen, Alberto, Alvarez, Sara, King, Staci D, Ramos, Luiza L.P, Santos, Mara Lucia S.F, Martin, Donna M, Brooks, Dan, Symonds, Joseph D, Cutcutache, Ioana, Pan, Qian, Hu, Zhengmao, Yuan, Ling, Eichler, Evan E, Xia, Kun, Guo, Hui
Published in The Journal of clinical investigation (01.10.2022)
Published in The Journal of clinical investigation (01.10.2022)
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Journal Article
CNTN6 copy number variations in 14 patients: a possible candidate gene for neurodevelopmental and neuropsychiatric disorders
Hu, Jie, Liao, Jun, Sathanoori, Malini, Kochmar, Sally, Sebastian, Jessica, Yatsenko, Svetlana A, Surti, Urvashi
Published in Journal of neurodevelopmental disorders (06.08.2015)
Published in Journal of neurodevelopmental disorders (06.08.2015)
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Journal Article
Milk Fermentation by Lacticaseibacillus rhamnosus GG and Streptococcus thermophilus SY-102: Proteolytic Profile and ACE-Inhibitory Activity
Sebastián-Nicolas, Jessica Lizbeth, Contreras-López, Elizabeth, Ramírez-Godínez, Juan, Cruz-Guerrero, Alma Elizabeth, Rodríguez-Serrano, Gabriela Mariana, Añorve-Morga, Javier, Jaimez-Ordaz, Judith, Castañeda-Ovando, Araceli, Pérez-Escalante, Emmanuel, Ayala-Niño, Alexis, González-Olivares, Luis Guillermo
Published in Fermentation (Basel) (01.12.2021)
Published in Fermentation (Basel) (01.12.2021)
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Journal Article
Missense variants in CTNNB1 can be associated with vitreoretinopathy—Seven new cases of CTNNB1‐associated neurodevelopmental disorder including a previously unreported retinal phenotype
Rossetti, Linda Z., Bekheirnia, Mir Reza, Lewis, Andrea M., Mefford, Heather C., Golden‐Grant, Katie, Tarczy‐Hornoch, Kristina, Briere, Lauren C., Sweetser, David A., Walker, Melissa A., Kravets, Elijah, Stevenson, David A., Bruenner, Georgette, Sebastian, Jessica, Knapo, Julia, Rosenfeld, Jill A., Marcogliese, Paul C., Wangler, Michael F.
Published in Molecular genetics & genomic medicine (01.01.2021)
Published in Molecular genetics & genomic medicine (01.01.2021)
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Journal Article
Estimation of thermodynamic properties of hydrogen isotopes and modeling of hydrogen isotope systems using Aspen Plus simulator
Noh, Jaehyun, Fulgueras, Alyssa Marie, Sebastian, Leah Jessica, Lee, Hyeon Gon, Kim, Dong Sun, Cho, Jungho
Published in Journal of industrial and engineering chemistry (Seoul, Korea) (25.02.2017)
Published in Journal of industrial and engineering chemistry (Seoul, Korea) (25.02.2017)
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Journal Article
Fuel filling time estimation for hydrogen-powered fuel cell electric vehicle at different initial conditions using dynamic simulation
Galanido, Russel J., Sebastian, Leah Jessica, Asante, Daniel Owusu, Kim, Dong Sun, Chun, Nam-Ju, Cho, Jungho
Published in The Korean journal of chemical engineering (2022)
Published in The Korean journal of chemical engineering (2022)
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Journal Article
Valorization of whey using a biorefinery
Sebastián‐Nicolás, Jessica L., González‐Olivares, Luis G., Vázquez‐Rodríguez, Gabriela A., Lucho‐Constatino, Carlos A., Castañeda‐Ovando, Araceli, Cruz‐Guerrero, Alma E.
Published in Biofuels, bioproducts and biorefining (01.09.2020)
Published in Biofuels, bioproducts and biorefining (01.09.2020)
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Journal Article
Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons
Bell, Scott, Rousseau, Justine, Peng, Huashan, Aouabed, Zahia, Priam, Pierre, Theroux, Jean-Francois, Jefri, Malvin, Tanti, Arnaud, Wu, Hanrong, Kolobova, Ilaria, Silviera, Heika, Manzano-Vargas, Karla, Ehresmann, Sophie, Hamdan, Fadi F., Hettige, Nuwan, Zhang, Xin, Antonyan, Lilit, Nassif, Christina, Ghaloul-Gonzalez, Lina, Sebastian, Jessica, Vockley, Jerry, Begtrup, Amber G., Wentzensen, Ingrid M., Crunk, Amy, Nicholls, Robert D., Herman, Kristin C., Deignan, Joshua L., Al-Hertani, Walla, Efthymiou, Stephanie, Salpietro, Vincenzo, Miyake, Noriko, Makita, Yoshio, Matsumoto, Naomichi, Østern, Rune, Houge, Gunnar, Hafström, Maria, Fassi, Emily, Houlden, Henry, Klein Wassink-Ruiter, Jolien S., Nelson, Dominic, Goldstein, Amy, Dabir, Tabib, van Gils, Julien, Bourgeron, Thomas, Delorme, Richard, Cooper, Gregory M., Martinez, Jose E., Finnila, Candice R., Carmant, Lionel, Lortie, Anne, Oegema, Renske, van Gassen, Koen, Mehta, Sarju G., Huhle, Dagmar, Abou Jamra, Rami, Martin, Sonja, Brunner, Han G., Lindhout, Dick, Au, Margaret, Graham, John M., Coubes, Christine, Turecki, Gustavo, Gravel, Simon, Mechawar, Naguib, Rossignol, Elsa, Michaud, Jacques L., Lessard, Julie, Ernst, Carl, Campeau, Philippe M.
Published in American journal of human genetics (02.05.2019)
Published in American journal of human genetics (02.05.2019)
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Journal Article
Chromosome 2q12.3-q13 copy number variants in patients with neurodevelopmental disorders: genotype-phenotype correlation and new hotspots
Aarabi, Mahmoud, Baumann, Jacqueline, Babcock, Melanie, Kessler, Elena, Sebastian, Jessica, Madan-Khetarpal, Suneeta, Hu, Jie, Ou, Zhishuo, Yatsenko, Svetlana
Published in Psychiatric genetics (01.10.2022)
Published in Psychiatric genetics (01.10.2022)
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Journal Article
Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases
Murakami, Yoshiko, Nguyen, Thi Tuyet Mai, Baratang, Nissan, Raju, Praveen K., Knaus, Alexej, Ellard, Sian, Jones, Gabriela, Lace, Baiba, Rousseau, Justine, Ajeawung, Norbert Fonya, Kamei, Atsushi, Minase, Gaku, Akasaka, Manami, Araya, Nami, Koshimizu, Eriko, van den Ende, Jenneke, Erger, Florian, Altmüller, Janine, Krumina, Zita, Strautmanis, Jurgis, Inashkina, Inna, Stavusis, Janis, El-Gharbawy, Areeg, Sebastian, Jessica, Puri, Ratna Dua, Kulshrestha, Samarth, Verma, Ishwar C., Maier, Esther M., Haack, Tobias B., Israni, Anil, Baptista, Julia, Gunning, Adam, Rosenfeld, Jill A., Liu, Pengfei, Joosten, Marieke, Rocha, María Eugenia, Hashem, Mais O., Aldhalaan, Hesham M., Alkuraya, Fowzan S., Miyatake, Satoko, Matsumoto, Naomichi, Krawitz, Peter M., Rossignol, Elsa, Kinoshita, Taroh, Campeau, Philippe M.
Published in American journal of human genetics (01.08.2019)
Published in American journal of human genetics (01.08.2019)
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Journal Article
eP362: Mosaic RAS family in-frame insertion variants in patients with hemangiomas and vascular malformations
Claire Hou, Ying-Chen, Evenson, Michael, Corliss, Meagan, Coughlin, Carrie, Pet, Mitchell, Willing, Marcia, Mahapatra, Lily, Carpentieri, David, Kulungowski, Ann, Chamlin, Sarah, El-Haffaf, Zaki, Madan-Khetarpal, Suneeta, Sebastian, Jessica, Heusel, Jonathan, Neidich, Julie, Cao, Yang
Published in Genetics in medicine (01.03.2022)
Published in Genetics in medicine (01.03.2022)
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Journal Article
A homozygous CAP2 pathogenic variant in a neonate presenting with rapidly progressive cardiomyopathy and nemaline rods
Gurunathan, Sharavana, Sebastian, Jessica, Baker, Jennifer, Abdel‐Hamid, Hoda Z., West, Shawn C., Feingold, Brian, Peche, Vivek, Reyes‐Múgica, Miguel, Madan‐Khetarpal, Suneeta, Field, Jeffrey
Published in American journal of medical genetics. Part A (01.03.2022)
Published in American journal of medical genetics. Part A (01.03.2022)
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Journal Article
Reticular Dysgenesis and Mitochondriopathy Induced by Adenylate Kinase 2 Deficiency with Atypical Presentation
Ghaloul-Gonzalez, Lina, Mohsen, Al-Walid, Karunanidhi, Anuradha, Seminotti, Bianca, Chong, Hey, Madan-Khetarpal, Suneeta, Sebastian, Jessica, Vockley, Catherine Walsh, Reyes-Múgica, Miguel, Vander Lugt, Mark T., Vockley, Jerry
Published in Scientific reports (31.10.2019)
Published in Scientific reports (31.10.2019)
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Journal Article
A comparative analysis of RAS variants in patients with disorders of somatic mosaicism
Claire Hou, Ying-Chen, Evenson, Michael J., Corliss, Meagan M., Mahapatra, Lily, Aldawood, Ali, Carpentieri, David F., Chamlin, Sarah L., Kulungowski, Ann M., Madan-Khetarpal, Suneeta, Sebastian, Jessica, Pet, Mitchell A., Coughlin, Carrie C., Willing, Marcia C., Pearson, Gregory D., Setty, Bhuvana A., El-Haffaf, Zaki, Cottrell, Catherine E., Parikh, Bijal A., Krysiak, Kilannin, Schroeder, Molly C., Heusel, Jonathan W., Neidich, Julie A., Cao, Yang
Published in Genetics in medicine (01.03.2023)
Published in Genetics in medicine (01.03.2023)
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Retrospective analysis of a clinical exome sequencing cohort reveals the mutational spectrum and identifies candidate disease–associated loci for BAFopathies
Chen, Chun-An, Lattier, John, Zhu, Wenmiao, Rosenfeld, Jill, Wang, Lei, Scott, Tiana M., Du, Haowei, Patel, Vipulkumar, Dang, Anh, Magoulas, Pilar, Streff, Haley, Sebastian, Jessica, Svihovec, Shayna, Curry, Kathryn, Delgado, Mauricio R., Hanchard, Neil A., Lalani, Seema, Marom, Ronit, Madan-Khetarpal, Suneeta, Saenz, Margarita, Dai, Hongzheng, Meng, Linyan, Xia, Fan, Bi, Weimin, Liu, Pengfei, Posey, Jennifer E., Scott, Daryl A., Lupski, James R., Eng, Christine M., Xiao, Rui, Yuan, Bo
Published in Genetics in medicine (01.02.2022)
Published in Genetics in medicine (01.02.2022)
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Four children with postnatally diagnosed mosaic trisomy 12: Clinical features, literature review, and current diagnostic capabilities of genetic testing
Hu, Jie, Ou, Zhishuo, Surti, Urvashi, Kochmar, Sally, Hoffner, Lori, Madan‐Khetarpal, Suneeta, Arnold, Georgianne L., Walsh, Leslie, Acquaro, Roxanne, Sebastian, Jessica, Yatsenko, Svetlana A.
Published in American journal of medical genetics. Part A (01.04.2020)
Published in American journal of medical genetics. Part A (01.04.2020)
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Journal Article
Ocular findings of albinism in DYRK1A- related intellectual disability syndrome
Ernst, Julia, Alabek, Michelle L, Eldib, Amgad, Madan-Khetarpal, Suneeta, Sebastian, Jessica, Bhatia, Aashim, Liasis, Alkiviades, Nischal, Ken K
Published in Ophthalmic genetics (01.12.2020)
Published in Ophthalmic genetics (01.12.2020)
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Journal Article
Familial deletion of the HOXA gene cluster associated with Hand–Foot–Genital syndrome and phenotypic variability
Tas, Emir, Sebastian, Jessica, Madan‐Khetarpal, Suneeta, Sweet, Philip, Yatsenko, Alexander N., Pollock, Nijole, Rajkovic, Aleksandar, Schneck, Francis X., Yatsenko, Svetlana A., Witchel, Selma Feldman
Published in American journal of medical genetics. Part A (01.01.2017)
Published in American journal of medical genetics. Part A (01.01.2017)
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