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SNAVI: Desktop application for analysis and visualization of large-scale signaling networks.
Published in:
BMC Systems Biology, 2009, v. 3, p. 1, doi. 10.1186/1752-0509-3-10
By:
- Ma'ayan, Avi;
- Jenkins, Sherry L.;
- Webb, Ryan L.;
- Berger, Seth I.;
- Purushothaman, Sudarshan P.;
- Abul-Husn, Noura S.;
- Posner, Jeremy M.;
- Flores, Tony;
- Iyengar, Ravi
Publication type:
Article
Cation leak through the ATP1A3 pump causes spasticity and intellectual disability.
Published in:
Brain: A Journal of Neurology, 2023, v. 146, n. 8, p. 3162, doi. 10.1093/brain/awad124
By:
- Calame, Daniel G;
- Vadillo, Cristina Moreno;
- Berger, Seth;
- Lotze, Timothy;
- Shinawi, Marwan;
- Poupak, Javaher;
- Heller, Corina;
- Cohen, Julie;
- Person, Richard;
- Telegrafi, Aida;
- Phitsanuwong, Chalongchai;
- Fiala, Kaylene;
- Thiffault, Isabelle;
- Viso, Florencia Del;
- Zhou, Dihong;
- Fleming, Emily A;
- Pastinen, Tomi;
- Fatemi, Ali;
- Thomas, Sruthi;
- Pascual, Samuel I
Publication type:
Article
Cohesin complex-associated holoprosencephaly.
Published in:
2019
By:
- Kruszka, Paul;
- Berger, Seth I;
- Casa, Valentina;
- Dekker, Mike R;
- Gaesser, Jenna;
- Weiss, Karin;
- Martinez, Ariel F;
- Murdock, David R;
- Louie, Raymond J;
- Prijoles, Eloise J;
- Lichty, Angie W;
- Brouwer, Oebele F;
- Zonneveld-Huijssoon, Evelien;
- Stephan, Mark J;
- Hogue, Jacob;
- Hu, Ping;
- Tanima-Nagai, Momoko;
- Everson, Joshua L;
- Prasad, Chitra;
- Cereda, Anna
Publication type:
journal article
Systematic analysis of the effect of multiple templates on the accuracy of comparative models of protein structure.
Published in:
BMC Structural Biology, 2008, v. 8, p. 1, doi. 10.1186/1472-6807-8-31
By:
- Chakravarty, Suvobrata;
- Godbole, Sucheta;
- Bing Zhang;
- Berger, Seth;
- Sanchez, Roberto
Publication type:
Article
RASopathies are the most common set of monogenic syndromes identified by exome sequencing for nonimmune hydrops fetalis: A systematic review and meta‐analysis.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 5, p. 1, doi. 10.1002/ajmg.a.63494
By:
- Makhamreh, Mona M.;
- Shivashankar, Kavya;
- Araji, Sarah;
- Critchlow, Elizabeth;
- O'Brien, Barbara M.;
- Wodoslawsky, Sascha;
- Berger, Seth I.;
- Al‐Kouatly, Huda B.
Publication type:
Article
Genomic and biochemical analysis of repeatedly observed variants in DBT in individuals with maple syrup urine disease of Central American ancestry.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 9, p. 2738, doi. 10.1002/ajmg.a.62893
By:
- Billington, Charles J.;
- Chapman, Kimberly A.;
- Leon, Eyby;
- Meltzer, Beatrix W.;
- Berger, Seth I.;
- Olson, Matthew;
- Figler, Robert A.;
- Hoang, Steve A.;
- Wanxing, Cui;
- Wamhoff, Brian R.;
- Collado, M. Sol;
- Cusmano‐Ozog, Kristina
Publication type:
Article
TFE3‐associated neurodevelopmental disorder: A distinct recognizable syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 3, p. 584, doi. 10.1002/ajmg.a.61437
By:
- Diaz, Jullianne;
- Berger, Seth;
- Leon, Eyby
Publication type:
Article
MAP1B related syndrome: Case presentation and review of literature.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 9, p. 1703, doi. 10.1002/ajmg.a.61280
By:
- Julca, Diana M.;
- Diaz, Jullianne;
- Berger, Seth;
- Leon, Eyby
Publication type:
Article
Precocious Puberty in a Boy With Bilateral Leydig Cell Tumors due to a Somatic Gain-of-Function LHCGR Variant.
Published in:
Journal of the Endocrine Society, 2022, v. 6, n. 10, p. 1, doi. 10.1210/jendso/bvac127
By:
- Flippo, Chelsi;
- Kolli, Vipula;
- Andrew, Melissa;
- Berger, Seth;
- Bhatti, Tricia;
- Boyce, Alison M;
- Casella, Daniel;
- Collins, Michael T;
- Délot, Emmanuèle;
- Devaney, Joseph;
- Hewitt, Stephen M;
- Kolon, Thomas;
- Mallappa, Ashwini;
- White, Perrin C;
- Merke, Deborah P;
- Dauber, Andrew
Publication type:
Article
Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants.
Published in:
Human Genetics, 2017, v. 136, n. 4, p. 409, doi. 10.1007/s00439-017-1767-x
By:
- Vilboux, Thierry;
- Gahl, William;
- Berger, Seth;
- Ciccone, Carla;
- Simon, Karen;
- Malicdan, May;
- Billington, Charles;
- Fischer, Roxanne;
- Huizing, Marjan;
- Introne, Wendy;
- Smith, Ann;
- Gropman, Andrea;
- Blancato, Jan;
- Mullikin, James
Publication type:
Article
SIX3 deletions and incomplete penetrance in families affected by holoprosencephaly.
Published in:
Congenital Anomalies, 2018, v. 58, n. 1, p. 29, doi. 10.1111/cga.12234
By:
- Stokes, Bethany;
- Berger, Seth I.;
- Hall, Beth A.;
- Weiss, Karin;
- Martinez, Ariel F.;
- Hadley, Donald W.;
- Murdock, David R.;
- Ramanathan, Subhadra;
- Clark, Robin D.;
- Roessler, Erich;
- Kruszka, Paul;
- Muenke, Maximilian
Publication type:
Article
Using a chat-based informed consent tool in large-scale genomic research.
Published in:
Journal of the American Medical Informatics Association, 2024, v. 31, n. 2, p. 472, doi. 10.1093/jamia/ocad181
By:
- Savage, Sarah K;
- LoTempio, Jonathan;
- Smith, Erica D;
- Andrew, E Hallie;
- Mas, Gloria;
- Kahn-Kirby, Amanda H;
- Délot, Emmanuèle;
- Cohen, Andrea J;
- Pitsava, Georgia;
- Nussbaum, Robert;
- Fusaro, Vincent A;
- Berger, Seth;
- Vilain, Eric
Publication type:
Article
Hydrops fetalis: Incidence, Etiologies, Management Strategies, and Outcomes.
Published in:
Research & Reports in Neonatology, 2023, v. 13, p. 81, doi. 10.2147/RRN.S411736
By:
- Younge, Tamiko;
- Ottolini, Katherine M;
- Al-Kouatly, Huda B;
- Berger, Seth I
Publication type:
Article
Increased diagnostic yield from negative whole genome‐slice panels using automated reanalysis.
Published in:
Clinical Genetics, 2023, v. 104, n. 3, p. 377, doi. 10.1111/cge.14360
By:
- Berger, Seth I.;
- Pitsava, Georgia;
- Cohen, Andrea J.;
- Délot, Emmanuèle C.;
- LoTempio, Jonathan;
- Andrew, Erin Hallie;
- Martin, Gloria Mas;
- Marmolejos, Sofia;
- Albert, Jessica;
- Meltzer, Beatrix;
- Fraser, Jamie;
- Regier, Debra S.;
- Kahn‐Kirby, Amanda H.;
- Smith, Erica;
- Knoblach, Susan;
- Ko, Arthur;
- Fusaro, Vincent A.;
- Vilain, Eric
Publication type:
Article
Diagnostic yield from prenatal exome sequencing for non‐immune hydrops fetalis: A systematic review and meta‐analysis.
Published in:
Clinical Genetics, 2023, v. 103, n. 5, p. 503, doi. 10.1111/cge.14309
By:
- Al‐Kouatly, Huda B.;
- Shivashankar, Kavya;
- Mossayebi, Matthew H.;
- Makhamreh, Mona;
- Critchlow, Elizabeth;
- Gao, Zimeng;
- Fasehun, Luther‐King;
- Alkuraya, Fowzan S.;
- Ryan, Erin E.;
- Hegde, Madhuri;
- Wodoslawsky, Sascha;
- Hughes, Joel;
- Berger, Seth I.
Publication type:
Article
Nonimmune hydrops fetalis and congenital disorders of glycosylation: A systematic literature review.
Published in:
Journal of Inherited Metabolic Disease, 2020, v. 43, n. 2, p. 223, doi. 10.1002/jimd.12162
By:
- Makhamreh, Mona M.;
- Cottingham, Naiga;
- Ferreira, Carlos R.;
- Berger, Seth;
- Al‐Kouatly, Huda B.
Publication type:
Article
AVIS: AJAX viewer of interactive signaling networks.
Published in:
Bioinformatics, 2007, v. 23, n. 20, p. 2803, doi. 10.1093/bioinformatics/btm444
By:
- Berger, Seth I.;
- Iyengar, Ravi;
- Ma'ayan, Avi
Publication type:
Article
Setting Reasonable and Proportional Credit Card Late Fees: Easier Said than Done.
Published in:
North Carolina School Banking Institute Journal, 2024, v. 28, n. 1, p. 203
By:
- BERGER, SETH W.
Publication type:
Article
Prenatal Phenotype of Alkuraya‐Kučinskas Syndrome: A Novel Case and Systematic Literature Review.
Published in:
Prenatal Diagnosis, 2024, v. 44, n. 11, p. 1381, doi. 10.1002/pd.6637
By:
- Rice, Stephanie M.;
- Varotsis, Dante F.;
- Wodoslawsky, Sascha;
- Critchlow, Elizabeth;
- Liu, Ruby;
- McLaren, Rodney A.;
- Makhamreh, Mona M.;
- Firman, Brandy;
- Berger, Seth I.;
- Al‐Kouatly, Huda B.
Publication type:
Article
PIEZO1 is the most common monogenic etiology of non‐immune hydrops fetalis detected by prenatal exome sequencing.
Published in:
Prenatal Diagnosis, 2023, v. 43, n. 12, p. 1556, doi. 10.1002/pd.6451
By:
- Brewer, Casey J.;
- Makhamreh, Mona M.;
- Shivashankar, Kavya;
- McLaren, Rodney;
- Toro, Mariella;
- Berger, Seth I.;
- Al‐Kouatly, Huda B.
Publication type:
Article
Lysosomal storage disease spectrum in nonimmune hydrops fetalis: a retrospective case control study.
Published in:
2020
By:
- Al‐Kouatly, Huda B.;
- Felder, Laura;
- Makhamreh, Mona M.;
- Kass, Stephanie L.;
- Vora, Neeta L.;
- Berghella, Vincenzo;
- Berger, Seth;
- Wenger, David A.;
- Luzi, Paola;
- Al-Kouatly, Huda B
Publication type:
journal article
Functional analysis of Sonic Hedgehog variants associated with holoprosencephaly in humans using a CRISPR/Cas9 zebrafish model.
Published in:
Human Mutation, 2020, v. 41, n. 12, p. 2155, doi. 10.1002/humu.24119
By:
- Hong, Sungkook;
- Hu, Ping;
- Jang, Jae Hee;
- Carrington, Blake;
- Sood, Raman;
- Berger, Seth I.;
- Roessler, Erich;
- Muenke, Maximilian
Publication type:
Article
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.
Published in:
Human Mutation, 2018, v. 39, n. 10, p. 1416, doi. 10.1002/humu.23590
By:
- Roessler, Erich;
- Hu, Ping;
- Marino, Juliana;
- Hong, Sungkook;
- Hart, Rachel;
- Berger, Seth;
- Martinez, Ariel;
- Abe, Yu;
- Kruszka, Paul;
- Thomas, James W.;
- Mullikin, James C.;
- NISC Comparative Sequencing Program;
- Wang, Yupeng;
- Wong, Wendy S. W.;
- Niederhuber, John E.;
- Solomon, Benjamin D.;
- Richieri‐Costa, Antônio;
- Ribeiro‐Bicudo, L. A.;
- Muenke, Maximilian
Publication type:
Article
Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.
Published in:
Human Mutation, 2017, v. 38, n. 12, p. 1774, doi. 10.1002/humu.23339
By:
- Chen, Li;
- Jensik, Philip J.;
- Alaimo, Joseph T.;
- Walkiewicz, Magdalena;
- Berger, Seth;
- Roeder, Elizabeth;
- Faqeih, Eissa A.;
- Bernstein, Jonathan A.;
- Smith, Ann C. M.;
- Mullegama, Sureni V.;
- Saffen, David W.;
- Elsea, Sarah H.
Publication type:
Article
ChEA: transcription factor regulation inferred from integrating genome-wide ChIP-X experiments.
Published in:
Bioinformatics, 2010, v. 26, n. 19, p. 2438, doi. 10.1093/bioinformatics/btq466
By:
- Lachmann, Alexander;
- Huilei Xu;
- Krishnan, Jayanth;
- Berger, Seth I.;
- Mazloom, Amin R.;
- Ma'ayan, Avi
Publication type:
Article
Network analyses in systems pharmacology.
Published in:
Bioinformatics, 2009, v. 25, n. 19, p. 2466, doi. 10.1093/bioinformatics/btp465
By:
- Berger, Seth I.;
- Iyengar, Ravi
Publication type:
Article
Somatic Mosaicism of IDH1 R132H Predisposes to Anaplastic Astrocytoma: A Case of Two Siblings.
Published in:
Frontiers in Oncology, 2020, v. 9, p. 1, doi. 10.3389/fonc.2019.01507
By:
- Lee, Sulgi;
- Kambhampati, Madhuri;
- Almira-Suarez, M. Isabel;
- Ho, Cheng-Ying;
- Panditharatna, Eshini;
- Berger, Seth I.;
- Turner, Joyce;
- Van Mater, David;
- Kilburn, Lindsay;
- Packer, Roger J.;
- Myseros, John S.;
- Vilain, Eric;
- Nazarian, Javad;
- Bornhorst, Miriam
Publication type:
Article
Systems Pharmacology of Arrhythmias.
Published in:
Science Signaling, 2010, v. 3, n. 121, p. 1, doi. 10.1126/scisignal.2000723
By:
- Berger, Seth I.;
- Ma'ayan, Avi;
- Iyengar, Ravi
Publication type:
Article
Systems Pharmacology of Arrhythmias.
Published in:
Science Signaling, 2010, v. 3, n. 118, p. 1, doi. 10.1126/scisignal.2000723
By:
- Berger, Seth I.;
- Ma'ayan, Avi;
- Iyengar, Ravi
Publication type:
Article

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