Search Results - Seth Berger

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  1. 1
    Systems pharmacology and genome medicine: a future perspective

    Systems pharmacology and genome medicine: a future perspective by Aislyn D Wist, Seth Berger, Ravi Iyengar

    Published 2009
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  2. 2
    Genes2Networks: connecting lists of gene symbols using mammalian protein interactions databases

    Genes2Networks: connecting lists of gene symbols using mammalian protein interactions databases by Seth Berger, Jeremy M Posner, Avi Ma’ayan

    Published 2007
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  3. 3
    A systematic review of monogenic etiologies of nonimmune hydrops fetalis

    A systematic review of monogenic etiologies of nonimmune hydrops fetalis by Andrea Quinn, Breanna Valcarcel, Mona M. Makhamreh, Huda B. Al‐Kouatly, Seth Berger

    Published 2020
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  4. 4
    ChEA: transcription factor regulation inferred from integrating genome-wide ChIP-X experiments

    ChEA: transcription factor regulation inferred from integrating genome-wide ChIP-X experiments by Alexander Lachmann, Huilei Xu, Jayanth Krishnan, Seth Berger, Amin R. Mazloom, Avi Ma’ayan

    Published 2010
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  5. 5
    A CCR4-NOT Transcription Complex, Subunit 1, CNOT1, Variant Associated with Holoprosencephaly

    A CCR4-NOT Transcription Complex, Subunit 1, CNOT1, Variant Associated with Holoprosencephaly by Paul Kruszka, Seth Berger, Karin Weiss, Joshua L. Everson, Ariel F. Martinez, Sung‐Kook Hong, Kwame Anyane‐Yeboa, Robert J. Lipinski, Maximilian Muenke

    Published 2019
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  6. 6
    High diagnosis rate for nonimmune hydrops fetalis with prenatal clinical exome from the Hydrops-Yielding Diagnostic Results of Prenatal Sequencing (HYDROPS) Study

    High diagnosis rate for nonimmune hydrops fetalis with prenatal clinical exome from the Hydrops-Yielding Diagnostic Results of Prenatal Sequencing (HYDROPS) Study by Huda B. Al‐Kouatly, Mona M. Makhamreh, Stephanie M. Rice, Kelsey C. Smith, Christopher Harman, Andrea Quinn, Breanna Valcarcel, Brandy Firman, Ruby Liu, Madhuri Hegde, Elizabeth Critchlow, Seth Berger

    Published 2021
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  7. 7
    Diagnostic yield from prenatal exome sequencing for non‐immune hydrops fetalis: A systematic review and meta‐analysis

    Diagnostic yield from prenatal exome sequencing for non‐immune hydrops fetalis: A systematic review and meta‐analysis by Huda B. Al‐Kouatly, Kavya Shivashankar, Matthew H. Mossayebi, Mona M. Makhamreh, Elizabeth Critchlow, Zimeng Gao, Luther‐King Fasehun, Fowzan S. Alkuraya, Erin Ryan, Madhuri Hegde, Sascha Wodoslawsky, Joel J. Hughes, Seth Berger

    Published 2023
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  8. 8
    Common genetic causes of holoprosencephaly are limited to a small set of evolutionarily conserved driver genes of midline development coordinated by TGF-β, hedgehog, and FGF signaling

    Common genetic causes of holoprosencephaly are limited to a small set of evolutionarily conserved driver genes of midline development coordinated by TGF-β, hedgehog, and FGF signal... by Erich Roessler, Ping Hu, Juliana Marino, Sung‐Kook Hong, Rachel Hart, Seth Berger, Ariel F. Martinez, Yu Abe, Paul Kruszka, James W. Thomas, James C. Mullikin, Yupeng Wang, Wendy S.W. Wong, John E. Niederhuber, Benjamin D. Solomon, Antônio Richieri‐Costa, Lucilene Arilho Ribeiro, Maximilian Muenke

    Published 2018
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  9. 9
    Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations

    Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations by Joel J. Hughes, Ebba Alkhunaizi, Paul Kruszka, Louise C. Pyle, Dorothy K. Grange, Seth Berger, Katelyn Payne, Diane Masser‐Frye, Tommy Hu, Michelle R. Christie, Nancy J. Clegg, Joshua L. Everson, Ariel F. Martinez, Laurence E. Walsh, Emma Bedoukian, Marilyn C. Jones, Catharine Harris, Korbinian M. Riedhammer, Daniela Choukair, Patricia Y. Fechner, Meilan M. Rutter, Sophia B. Hufnagel, Maian Roifman, Gad B. Kletter, Emmanuèle C. Délot, Éric Vilain, Robert J. Lipinski, Chad M. Vezina, Maximilian Muenke, David Chitayat

    Published 2019
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  10. 10
    Defining the clinical phenotype of Saul–Wilson syndrome

    Defining the clinical phenotype of Saul–Wilson syndrome by Carlos R. Ferreira, Wadih M. Zein, Laryssa A. Huryn, Andrea Merker, Seth Berger, William G. Wilson, George E. Tiller, Lynne A. Wolfe, Melissa A. Merideth, Daniel R. Carvalho, Angela L. Duker, Heiko Bratke, Marte G. Haug, Luis Rohena, Hanne Hove, Zhi‐Jie Xia, Bobby G. Ng, Hudson H. Freeze, Melissa Gabriel, Alvaro H. Serrano Russi, Lauren Brick, Mariya Kozenko, Dawn Earl, Emma Tham, Gen Nishimura, John A. Phillips, William A. Gahl, Rizwan Hamid, Andrew P. Jackson, Giedre Grigelioniené, Michael B. Bober

    Published 2020
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  11. 11
    Cohesin complex-associated holoprosencephaly

    Cohesin complex-associated holoprosencephaly by Paul Kruszka, Seth Berger, Valentina Casà, Mike R. Dekker, Jenna Gaesser, Karin Weiss, Ariel F. Martinez, David R. Murdock, Raymond J. Louie, Eloise J. Prijoles, Angie Lichty, Oebele F. Brouwer, Evelien Zonneveld‐Huijssoon, Mark J. Stephan, Jacob S. Hogue, Ping Hu, Momoko Tanima-Nagai, Joshua L. Everson, Chitra Prasad, Anna Cereda, Maria Iascone, Allison Schreiber, Vickie Zurcher, Nicole Corsten‐Janssen, Luis Escobar, Nancy J. Clegg, Mauricio R. Delgado, Omkar Hajirnis, Meena Balasubramanian, Hülya Kayserili, Matthew A. Deardorff, Raymond A. Poot, Kerstin S. Wendt, Robert J. Lipinski, Maximilian Muenke

    Published 2019
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  12. 12
    Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases

    Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases by Sarah L. Stenton, Kristen M. Laricchia, Nicole J. Lake, Sushma Chaluvadi, Vijay Ganesh, Stephanie DiTroia, Ikeoluwa Osei‐Owusu, Lynn Pais, Emily O’Heir, Christina Austin‐Tse, Melanie O’Leary, Mayada Abu Shanap, Chelsea Barrows, Seth Berger, Carsten G. Bönnemann, Kinga M. Bujakowska, Dean R. Campagna, Alison G. Compton, Sandra Donkervoort, Mark D. Fleming, Lyndon Gallacher, Joseph G. Gleeson, Göknur Haliloğlu, Eric A. Pierce, Emily Place, Vijay G. Sankaran, Akiko Shimamura, Zornitza Stark, Tiong Yang Tan, David R. Thorburn, Susan M. White, Maha S. Zaki, Éric Vilain, Monkol Lek, Heidi L. Rehm, Anne O’Donnell‐Luria

    Published 2025
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  13. 13
    Beyond the exome: What’s next in diagnostic testing for Mendelian conditions

    Beyond the exome: What’s next in diagnostic testing for Mendelian conditions by Monica H. Wojcik, Chloe M. Reuter, Shruti Marwaha, Medhat Mahmoud, Michael H. Duyzend, Hayk Barseghyan, Bo Yuan, Philip M. Boone, Emily Groopman, Emmanuèle C. Délot, Deepti Jain, Alba Sanchis‐Juan, Lea M. Starita, Michael E. Talkowski, Stephen B. Montgomery, Michael J. Bamshad, Jessica X. Chong, Matthew T. Wheeler, Seth Berger, Anne O’Donnell‐Luria, Fritz J. Sedlazeck, Danny E. Miller, Siwaar Abouhala, Jessica Albert, Miguel Almalvez, Raquel Alvarez, Mutaz Amin, Peter Anderson, Swaroop Aradhya, Euan A. Ashley, Themistocles L. Assimes, Light Auriga, Christina Austin‐Tse, Mike Bamshad, Hayk Barseghyan, Samantha Baxter, Sairam Behera, Shaghayegh Beheshti, Gill Bejerano, Seth Berger, Jon Bernstein, Sabrina Best, Benjamin Blankenmeister, Elizabeth Blue, Eric Boerwinkle, Emily Bonkowski, Devon Bonner, Philip Boone, Miriam Bornhorst, Tugce Bozkurt‐Yozgatli, Harrison Brand, Kati J. Buckingham, Daniel G. Calame, Silvia Casadei, Lisa H. Chadwick, Clarisa Chavez, Ziwei Chen, Iván K. Chinn, Jessica X. Chong, Zeynep Coban‐Akdemir, Andrea J. Cohen, Sarah J. Conner, Matthew P. Conomos, Karen J. Coveler, Ya Allen Cui, Sara Currin, Robert Daber, Zain Dardas, Colleen Davis, Moez Dawood, Ivan De Dios, Celine De Esch, Meghan Delaney, Emmanuèle C. Délot, Stephanie DiTroia, HarshaVardhan Doddapaneni, Haowei Du, Ruizhi Duan, Shannon Dugan‐Perez, Nhat Duong, Michael H. Duyzend, Evan E. Eichler, Sara Emami, Jawid M. Fatih, Jamie L. Fraser, Vincent A. Fusaro, Miranda Galey, Vijay Ganesh, Kiran Garimella, Richard A. Gibbs, Casey A. Gifford, Amy Ginsburg, Pagé C. Goddard, Stephanie M. Gogarten, Nikhita Gogate, William Gordon, John E. Gorzynski, William J. Greenleaf, Christopher M. Grochowski, Emily Groopman

    Published 2023
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  14. 14
    Sequence variants in HECTD1 result in a variable neurodevelopmental disorder

    Sequence variants in HECTD1 result in a variable neurodevelopmental disorder by Gazelle Zerafati‐Jahromi, Elias Oxman, Hieu D. Hoang, Wu‐Lin Charng, Tanvitha Kotla, Weimin Yuan, Kenichi Ishibashi, Sonia Sebaoui, Kathryn Luedtke, Bryce Winrow, Rebecca Ganetzky, Anna Ruiz, Carmen Manso-Basúz, Nino Spataro, Pekka Kannus, Taryn Athey, Christina Peroutka, Caitlin Barnes, Richard Sidlow, George Anadiotis, Kari Magnussen, Irene Valenzuela, Alejandro Moles‐Fernández, Seth Berger, Christina Grant, Éric Vilain, Gudny A. Arnadottir, Patrick Sulem, Telma Sulem, Kāri Stefánsson, Shavonne L. Massey, Natalie Ginn, Annapurna Poduri, Alissa M. D’Gama, Rozalia Valentine, Sara Trowbridge, Chaya N. Murali, Rachel Franciskovich, Thi Hai Yen Tran, Bryn D. Webb, Kim M. Keppler‐Noreuil, April Hall, Bobbi McGivern, Kristin G. Monaghan, Maria J. Guillen Sacoto, Dustin Baldridge, Gary A. Silverman, Sonika Dahiya, Tychele N. Turner, Tim Schedl, Jackie D. Corbin, Stephen C. Pak, Irene E. Zohn, Christina A. Gurnett

    Published 2025
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  15. 15
    <i>De novo</i>variants in the non-coding spliceosomal snRNA gene<i>RNU4-2</i>are a frequent cause of syndromic neurodevelopmental disorders

    <i>De novo</i>variants in the non-coding spliceosomal snRNA gene<i>RNU4-2</i>are a frequent cause of syndromic neurodevelopmental disorders by Yuyang Chen, Ruebena Dawes, Hyung Chul Kim, Sarah L. Stenton, Susan Walker, Alicia Ljungdahl, Jenny Lord, Vijay S Ganesh, Jialan Ma, Alexandra C Martin-Geary, Gabrielle Lemire, Elston N. D’Souza, Shan Dong, Jamie M. Ellingford, David R. Adams, Kirsten Allan, Madhura Bakshi, Erin E. Baldwin, Seth Berger, Jonathan A. Bernstein, Natasha J. Brown, Lindsay C. Burrage, Kimberly A. Chapman, Alison G. Compton, Chloe A Cunningham, Precilla D’Souza, Emmanuèle C. Délot, Kerith‐Rae Dias, Ellen Roy Elias, Carey‐Anne Evans, Lisa Ewans, Kimberly Ezell, Jamie L. Fraser, Lyndon Gallacher, Casie A. Genetti, Christina Grant, Tobias B. Haack, Alma Kuechler, Seema R. Lalani, Elsa Leitão, Anna Le Fevre, Richard J. Leventer, Jan Liebelt, Paul J. Lockhart, Alan Ma, Ellen F. Macnamara, T. Maurer, Rodrigo Mendez, Stephen B. Montgomery, Marie‐Cécile Nassogne, Serena Neumann, Melanie O’Leary, Elizabeth E. Palmer, John A. Phillips, Georgia Pitsava, Ryan Pysar, Heidi L. Rehm, Chloe M. Reuter, Nicole Revençu, Angelika Rieß, Rocío Rius, Lance H. Rodan, Tony Roscioli, Jill A. Rosenfeld, Rani Sachdev, Cas Simons, Sanjay M. Sisodiya, Penny Snell, Laura St Clair, Zornitza Stark, Tiong Yang Tan, Natalie B. Tan, Suzanna E.L. Temple, David R. Thorburn, Cynthia J. Tifft, Eloise Uebergang, Grace E. VanNoy, Éric Vilain, David Viskochil, Laura Wedd, Matthew T. Wheeler, Susan M. White, Monica H. Wojcik, Lynne A. Wolfe, Zoe Wolfenson, Changrui Xiao, David Zocche, John L.R. Rubenstein, Eirene Markenscoff-Papadimitriou, Sebastian M. Fica, Diana Baralle, Christel Depienne, Daniel G. MacArthur, Joanna M. M. Howson, Stephan Sanders, Anne O’Donnell‐Luria, Nicola Whiffin

    Published 2024
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  16. 16
    De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome

    De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome by Yuyang Chen, Ruebena Dawes, Hyung Chul Kim, Alicia Ljungdahl, Sarah L. Stenton, Susan Walker, Jenny Lord, Gabrielle Lemire, Alexandra C Martin-Geary, Vijay S Ganesh, Jialan Ma, Jamie M. Ellingford, Erwan Delage, Elston N. D’Souza, Shan Dong, David R. Adams, Kirsten Allan, Madhura Bakshi, Erin E. Baldwin, Seth Berger, Jonathan A. Bernstein, Ishita Bhatnagar, Ed Blair, Natasha J. Brown, Lindsay C. Burrage, Kimberly A. Chapman, David Coman, Alison G. Compton, Chloe A Cunningham, Precilla D’Souza, Petr Danecek, Emmanuèle C. Délot, Kerith‐Rae Dias, Ellen Roy Elias, Frances Elmslie, Care-Anne Evans, Lisa Ewans, Kimberly Ezell, Jamie L. Fraser, Lyndon Gallacher, Casie A. Genetti, Anne Goriely, Christina Grant, Tobias B. Haack, Jenny Higgs, Anjali Gupta Hinch, Matthew E. Hurles, Alma Kuechler, Katherine Lachlan, Seema R. Lalani, François Lecoquierre, Elsa Leitão, Anna Le Fevre, Richard J. Leventer, Jan Liebelt, Sarah Lindsay, Paul J. Lockhart, Alan Ma, Ellen F. Macnamara, Sahar Mansour, T. Maurer, Rodrigo Mendez, Kay Metcalfe, Stephen B. Montgomery, Mariya Moosajee, Marie‐Cécile Nassogne, Serena Neumann, Michael O’Donoghue, Melanie O’Leary, Elizabeth E. Palmer, Nikhil Pattani, John Phillips, Georgia Pitsava, Ryan Pysar, Heidi L. Rehm, Chloe M. Reuter, Nicole Revençu, Angelika Rieß, Rocío Rius, Lance H. Rodan, Tony Roscioli, Jill A. Rosenfeld, Rani Sachdev, Charles Shaw‐Smith, Cas Simons, Sanjay M. Sisodiya, Penny Snell, Laura St Clair, Zornitza Stark, Helen Stewart, Tiong Yang Tan, Natalie B. Tan, Suzanna E.L. Temple, David R. Thorburn, Cynthia J. Tifft, Eloise Uebergang, Grace E. VanNoy, Pradeep Vasudevan, Éric Vilain, David Viskochil

    Published 2024
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