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Seth I. Berger, MD, PhD
Seth I. Berger, MD, PhD
Dirección de correo verificada de childrensnational.org - Página principal
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ChEA: transcription factor regulation inferred from integrating genome-wide ChIP-X experiments
A Lachmann, H Xu, J Krishnan, SI Berger, AR Mazloom, A Ma'ayan
Bioinformatics 26 (19), 2438-2444, 2010
7652010
Network analyses in systems pharmacology
SI Berger, R Iyengar
Bioinformatics 25 (19), 2466-2472, 2009
4482009
Genes2Networks: connecting lists of gene symbols using mammalian protein interactions databases
S Berger, J Posner, A Ma'ayan
BMC bioinformatics 8 (1), 372, 2007
1622007
Systems pharmacology of arrhythmias
SI Berger, A Ma’ayan, R Iyengar
Science signaling 3 (118), ra30, 2010
1402010
Role of systems pharmacology in understanding drug adverse events
SI Berger, R Iyengar
Wiley interdisciplinary reviews: systems biology and medicine 3 (2), 129-135, 2011
1182011
Systems pharmacology and genome medicine: a future perspective
AD Wist, SI Berger, R Iyengar
Genome medicine 1 (1), 1-9, 2009
962009
AVIS: AJAX viewer of interactive signaling networks
SI Berger, R Iyengar, A Ma’ayan
Bioinformatics 23 (20), 2803-2805, 2007
422007
Cohesin complex-associated holoprosencephaly
P Kruszka, SI Berger, V Casa, MR Dekker, J Gaesser, K Weiss, ...
Brain 142 (9), 2631-2643, 2019
392019
SNAVI: Desktop application for analysis and visualization of large-scale signaling networks
A Ma'ayan, SL Jenkins, RL Webb, SI Berger, SP Purushothaman, ...
BMC systems biology 3 (1), 1-11, 2009
382009
Rapid deployment of a telemedicine care model for genetics and metabolism during COVID‐19
N Shur, SM Atabaki, MS Kisling, A Tabarani, C Williams, JL Fraser, ...
American Journal of Medical Genetics Part A 185 (1), 68-72, 2021
342021
Systematic analysis of the effect of multiple templates on the accuracy of comparative models of protein structure
S Chakravarty, S Godbole, B Zhang, S Berger, R Sanchez
BMC structural biology 8 (1), 1-13, 2008
322008
A CCR4-NOT transcription complex, subunit 1, CNOT1, variant associated with holoprosencephaly
P Kruszka, SI Berger, K Weiss, JL Everson, AF Martinez, S Hong, ...
The American Journal of Human Genetics 104 (5), 990-993, 2019
312019
Exome analysis of Smith–Magenis-like syndrome cohort identifies de novo likely pathogenic variants
SI Berger, C Ciccone, KL Simon, MC Malicdan, T Vilboux, C Billington, ...
Human genetics 136 (4), 409-420, 2017
292017
Loss-of-function variants in PPP1R12A: from isolated sex reversal to holoprosencephaly spectrum and urogenital malformations
JJ Hughes, E Alkhunaizi, P Kruszka, LC Pyle, DK Grange, SI Berger, ...
The American Journal of Human Genetics 106 (1), 121-128, 2020
262020
Loss of function in ROBO1 is associated with tetralogy of Fallot and septal defects
P Kruszka, P Tanpaiboon, K Neas, K Crosby, SI Berger, AF Martinez, ...
Journal of Medical Genetics 54 (12), 825-829, 2017
262017
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 …
E Roessler, P Hu, J Marino, S Hong, R Hart, S Berger, A Martinez, Y Abe, ...
Human mutation 39 (10), 1416-1427, 2018
232018
Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1‐associated neurodevelopmental disorder (DAND …
L Chen, PJ Jensik, JT Alaimo, M Walkiewicz, S Berger, E Roeder, ...
Human mutation 38 (12), 1774-1785, 2017
202017
Nonimmune hydrops fetalis and congenital disorders of glycosylation: A systematic literature review
MM Makhamreh, N Cottingham, CR Ferreira, S Berger, HB Al‐Kouatly
Journal of Inherited Metabolic Disease 43 (2), 223-233, 2020
192020
A systematic review of monogenic etiologies of nonimmune hydrops fetalis
AM Quinn, BN Valcarcel, MM Makhamreh, HB Al-Kouatly, SI Berger
Genetics in Medicine 23 (1), 3-12, 2021
172021
Lysosomal storage disease spectrum in nonimmune hydrops fetalis: a retrospective case control study
HB Al‐Kouatly, L Felder, MM Makhamreh, SL Kass, NL Vora, V Berghella, ...
Prenatal diagnosis 40 (6), 738-745, 2020
172020
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