De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly
Lee, Jeong Ho, Huynh, My, Silhavy, Jennifer L, Kim, Sangwoo, Dixon-Salazar, Tracy, Heiberg, Andrew, Scott, Eric, Bafna, Vineet, Hill, Kiley J, Collazo, Adrienne, Funari, Vincent, Russ, Carsten, Gabriel, Stacey B, Mathern, Gary W, Gleeson, Joseph G
Published in Nature genetics (01.08.2012)
Published in Nature genetics (01.08.2012)
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Exome sequencing can improve diagnosis and alter patient management
Dixon-Salazar, Tracy J, Silhavy, Jennifer L, Udpa, Nitin, Schroth, Jana, Bielas, Stephanie, Schaffer, Ashleigh E, Olvera, Jesus, Bafna, Vineet, Zaki, Maha S, Abdel-Salam, Ghada H, Mansour, Lobna A, Selim, Laila, Abdel-Hadi, Sawsan, Marzouki, Naima, Ben-Omran, Tawfeg, Al-Saana, Nouriya A, Sonmez, F Müjgan, Celep, Figen, Azam, Matloob, Hill, Kiley J, Collazo, Adrienne, Fenstermaker, Ali G, Novarino, Gaia, Akizu, Naiara, Garimella, Kiran V, Sougnez, Carrie, Russ, Carsten, Gabriel, Stacey B, Gleeson, Joseph G
Published in Science translational medicine (13.06.2012)
Published in Science translational medicine (13.06.2012)
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Journal Article
Evolutionarily Assembled cis-Regulatory Module at a Human Ciliopathy Locus
JEONG HO LEE, SILHAVY, Jennifer L, GABRIEL, Stacey B, RUSS, Carsten, LOGAN, Clare V, MALIK SHARIF, Saghira, BENNETT, Christopher P, ABE, Masumi, HILDEBRANDT, Friedhelm, DIPLAS, Bill H, ATTIE-BITACH, Tania, KATSANIS, Nicholas, JI EUN LEE, RAJAB, Anna, KOUL, Roshan, SZTRIHA, Laszlo, WATERS, Elizabeth R, FERRO-NOVICK, Susan, GEOFFREY WOODS, C, JOHNSON, Colin A, MARIA VALENCE, Enza, ZAKI, Maha S, GLEESON, Joseph G, AL-GAZALI, Lihadh, THOMAS, Sophie, DAVIS, Erica E, BIELAS, Stephanie L, HILL, Kiley J, LANNICELLI, Miriam, BRANCATI, Francesco
Published in Science (American Association for the Advancement of Science) (24.02.2012)
Published in Science (American Association for the Advancement of Science) (24.02.2012)
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Journal Article
Affiliative behavior in Williams syndrome: Social perception and real-life social behavior
Järvinen-Pasley, Anna, Adolphs, Ralph, Yam, Anna, Hill, Kiley J., Grichanik, Mark, Reilly, Judy, Mills, Debra, Reiss, Allan L., Korenberg, Julie R., Bellugi, Ursula
Published in Neuropsychologia (01.06.2010)
Published in Neuropsychologia (01.06.2010)
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Atypical hemispheric asymmetry in the perception of negative human vocalizations in individuals with Williams syndrome
Järvinen-Pasley, Anna, Pollak, Seth D., Yam, Anna, Hill, Kiley J., Grichanik, Mark, Mills, Debra, Reiss, Allan L., Korenberg, Julie R., Bellugi, Ursula
Published in Neuropsychologia (01.03.2010)
Published in Neuropsychologia (01.03.2010)
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Cross-modal influences of affect across social and non-social domains in individuals with Williams syndrome
Järvinen-Pasley, Anna, Vines, Bradley W., Hill, Kiley J., Yam, Anna, Grichanik, Mark, Mills, Debra, Reiss, Allan L., Korenberg, Julie R., Bellugi, Ursula
Published in Neuropsychologia (01.01.2010)
Published in Neuropsychologia (01.01.2010)
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Journal Article
Evolutionary Assembled cis-Regulatory Module at a Human Ciliopathy Locus
Lee, Jeong Ho, Silhavy, Jennifer L., Lee, Ji Eun, Al-Gazali, Lihadh, Thomas, Sophie, Davis, Erica E., Bielas, Stephanie L., Hill, Kiley J., Iannicelli, Miriam, Brancati, Francesco, Gabriel, Stacey B., Russ, Carsten, Logan, Clare V., Sharif, Saghira Malik, Bennett, Christopher P., Abe, Masumi, Hildebrandt, Friedhelm, Diplas, Bill H., Attié-Bitach, Tania, Katsanis, Nicholas, Rajab, Anna, Koul, Roshan, Sztriha, Laszlo, Waters, Elizabeth R., Ferro-Novick, Susan, Woods, C. Geoffrey, Johnson, Colin A., Valente, Enza Maria, Zaki, Maha S., Gleeson, Joseph G.
Published in Science (American Association for the Advancement of Science) (24.02.2012)
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Published in Science (American Association for the Advancement of Science) (24.02.2012)
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