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Harnessing rare variants in neuropsychiatric and neurodevelopment disorders—a Keystone Symposia report.
Published in:
Annals of the New York Academy of Sciences, 2021, v. 1506, n. 1, p. 5, doi. 10.1111/nyas.14658
By:
- Cable, Jennifer;
- Purcell, Ryan H.;
- Robinson, Elise;
- Vorstman, Jacob A. S.;
- Chung, Wendy K.;
- Constantino, John N.;
- Sanders, Stephan J.;
- Sahin, Mustafa;
- Dolmetsch, Ricardo E.;
- Shah, Bina Maniar;
- Thurm, Audrey;
- Martin, Christa L.;
- Bearden, Carrie E.;
- Mulle, Jennifer G.
Publication type:
Article
Characterization of De Novo Promoter Variants in Autism Spectrum Disorder with Massively Parallel Reporter Assays.
Published in:
International Journal of Molecular Sciences, 2023, v. 24, n. 4, p. 3509, doi. 10.3390/ijms24043509
By:
- Koesterich, Justin;
- An, Joon-Yong;
- Inoue, Fumitaka;
- Sohota, Ajuni;
- Ahituv, Nadav;
- Sanders, Stephan J.;
- Kreimer, Anat
Publication type:
Article
Constructing and optimizing 3D atlases from 2D data with application to the developing mouse brain.
Published in:
eLife, 2021, p. 1, doi. 10.7554/eLife.61408
By:
- Young, David M.;
- Darbandi, Siavash Fazel;
- Schwartz, Grace;
- Bonzell, Zachary;
- Yuruk, Deniz;
- Nojima, Mai;
- Gole, Laurent C.;
- Rubenstein, John L. R.;
- Weimiao Yu;
- Sanders, Stephan J.
Publication type:
Article
Examining Sex Differences in Autism Heritability.
Published in:
JAMA Psychiatry, 2024, v. 81, n. 7, p. 673, doi. 10.1001/jamapsychiatry.2024.0525
By:
- Sandin, Sven;
- Yip, Benjamin H. K.;
- Yin, Weiyao;
- Weiss, Lauren A.;
- Dougherty, Joseph D.;
- Fass, Stuart;
- Constantino, John N.;
- Hailin, Zhu;
- Turner, Tychele N.;
- Marrus, Natasha;
- Gutmann, David H.;
- Sanders, Stephan J.;
- Christoffersson, Benjamin
Publication type:
Article
Developmental dynamics of voltage-gated sodium channel isoform expression in the human and mouse brain.
Published in:
Genome Medicine, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s13073-021-00949-0
By:
- Liang, Lindsay;
- Fazel Darbandi, Siavash;
- Pochareddy, Sirisha;
- Gulden, Forrest O.;
- Gilson, Michael C.;
- Sheppard, Brooke K.;
- Sahagun, Atehsa;
- An, Joon-Yong;
- Werling, Donna M.;
- Rubenstein, John L. R.;
- Sestan, Nenad;
- Bender, Kevin J.;
- Sanders, Stephan J.
Publication type:
Article
A framework for the interpretation of de novo mutation in human disease.
Published in:
Nature Genetics, 2014, v. 46, n. 9, p. 944, doi. 10.1038/ng.3050
By:
- Samocha, Kaitlin E;
- Robinson, Elise B;
- Sanders, Stephan J;
- Stevens, Christine;
- Sabo, Aniko;
- McGrath, Lauren M;
- Kosmicki, Jack A;
- Rehnström, Karola;
- Mallick, Swapan;
- Kirby, Andrew;
- Wall, Dennis P;
- MacArthur, Daniel G;
- Gabriel, Stacey B;
- DePristo, Mark;
- Purcell, Shaun M;
- Palotie, Aarno;
- Boerwinkle, Eric;
- Buxbaum, Joseph D;
- Cook, Edwin H;
- Gibbs, Richard A
Publication type:
Article
Most genetic risk for autism resides with common variation.
Published in:
Nature Genetics, 2014, v. 46, n. 8, p. 881, doi. 10.1038/ng.3039
By:
- Gaugler, Trent;
- Klei, Lambertus;
- Sanders, Stephan J;
- Bodea, Corneliu A;
- Goldberg, Arthur P;
- Lee, Ann B;
- Mahajan, Milind;
- Manaa, Dina;
- Pawitan, Yudi;
- Reichert, Jennifer;
- Ripke, Stephan;
- Sandin, Sven;
- Sklar, Pamela;
- Svantesson, Oscar;
- Reichenberg, Abraham;
- Hultman, Christina M;
- Devlin, Bernie;
- Roeder, Kathryn;
- Buxbaum, Joseph D
Publication type:
Article
Artificial intelligence-assisted quantification and assessment of whole slide images for pediatric kidney disease diagnosis.
Published in:
Bioinformatics, 2024, v. 40, n. 1, p. 1, doi. 10.1093/bioinformatics/btad740
By:
- Feng, Chunyue;
- Ong, Kokhaur;
- Young, David M;
- Chen, Bingxian;
- Li, Longjie;
- Huo, Xinmi;
- Lu, Haoda;
- Gu, Weizhong;
- Liu, Fei;
- Tang, Hongfeng;
- Zhao, Manli;
- Yang, Min;
- Zhu, Kun;
- Huang, Limin;
- Wang, Qiang;
- Marini, Gabriel Pik Liang;
- Gui, Kun;
- Han, Hao;
- Sanders, Stephan J;
- Li, Lin
Publication type:
Article
A biomedical open knowledge network harnesses the power of AI to understand deep human biology.
Published in:
AI Magazine, 2022, v. 43, n. 1, p. 46, doi. 10.1002/aaai.12037
By:
- Baranzini, Sergio E.;
- Börner, Katy;
- Morris, John;
- Nelson, Charlotte A.;
- Soman, Karthik;
- Schleimer, Erica;
- Keiser, Michael;
- Musen, Mark;
- Pearce, Roger;
- Reza, Tahsin;
- Smith, Brett;
- Herr, Bruce W.;
- Oskotsky, Boris;
- Rizk‐Jackson, Angela;
- Rankin, Katherine P.;
- Sanders, Stephan J.;
- Bove, Riley;
- Rose, Peter W.;
- Israni, Sharat;
- Huang, Sui
Publication type:
Article
A biomedical open knowledge network harnesses the power of AI to understand deep human biology.
Published in:
AI Magazine, 2022, v. 43, n. 1, p. 46, doi. 10.1609/aimag.v43i1.19125
By:
- Baranzini, Sergio E.;
- Börner, Katy;
- Morris, John;
- Nelson, Charlotte A.;
- Soman, Karthik;
- Schleimer, Erica;
- Keiser, Michael;
- Musen, Mark;
- Pearce, Roger;
- Reza, Tahsin;
- Smith, Brett;
- Herr II, Bruce W.;
- Oskotsky, Boris;
- Rizk-Jackson, Angela;
- Rankin, Katherine P.;
- Sanders, Stephan J.;
- Bove, Riley;
- Rose, Peter W.;
- Israni, Sharat;
- Huang, Sui
Publication type:
Article
Assessing the utility of electronic measures as a proxy for cognitive ability.
Published in:
Autism Research: Official Journal of the International Society for Autism Research, 2022, v. 15, n. 6, p. 988, doi. 10.1002/aur.2704
By:
- Levy, Tess;
- Britvan, Bari;
- Grosman, Hannah;
- Giserman‐Kiss, Ivy;
- Meyering, Kristin;
- Weissman, Jordana;
- Halpern, Danielle;
- Zweifach, Jessica;
- Trelles, M. Pilar;
- Foss‐Feig, Jennifer H.;
- Kolevzon, Alexander;
- Sanders, Stephan J.;
- Robinson, Elise B.;
- Buxbaum, Joseph D.;
- Bishop, Somer;
- Siper, Paige M.
Publication type:
Article
Children with autism spectrum disorder who improve with fever: Insights from the Simons Simplex Collection.
Published in:
Autism Research: Official Journal of the International Society for Autism Research, 2018, v. 11, n. 1, p. 175, doi. 10.1002/aur.1856
By:
- Grzadzinski, Rebecca;
- Lord, Catherine;
- Sanders, Stephan J.;
- Werling, Donna;
- Bal, Vanessa H.
Publication type:
Article
Modest Impact on Risk for Autism Spectrum Disorder of Rare Copy Number Variants at 15 q11.2, Specifically Breakpoints 1 to 2.
Published in:
Autism Research: Official Journal of the International Society for Autism Research, 2014, v. 7, n. 3, p. 355, doi. 10.1002/aur.1378
By:
- Chaste, Pauline;
- Sanders, Stephan J.;
- Mohan, Kommu N.;
- Klei, Lambertus;
- Song, Youeun;
- Murtha, Michael T.;
- Hus, Vanessa;
- Lowe, Jennifer K.;
- Willsey, A. Jeremy;
- Moreno‐De‐Luca, Daniel;
- Yu, Timothy W.;
- Fombonne, Eric;
- Geschwind, Daniel;
- Grice, Dorothy E.;
- Ledbetter, David H.;
- Lord, Catherine;
- Mane, Shrikant M.;
- Martin, Donna M.;
- Morrow, Eric M.;
- Walsh, Christopher A.
Publication type:
Article
Homozygous loss of DIAPH1 is a novel cause of microcephaly in humans.
Published in:
European Journal of Human Genetics, 2015, v. 23, n. 2, p. 165, doi. 10.1038/ejhg.2014.82
By:
- Ercan-Sencicek, A Gulhan;
- Jambi, Samira;
- Franjic, Daniel;
- Nishimura, Sayoko;
- Li, Mingfeng;
- El-Fishawy, Paul;
- Morgan, Thomas M;
- Sanders, Stephan J;
- Bilguvar, Kaya;
- Suri, Mohnish;
- Johnson, Michele H;
- Gupta, Abha R;
- Yuksel, Zafer;
- Mane, Shrikant;
- Grigorenko, Elena;
- Picciotto, Marina;
- Alberts, Arthur S;
- Gunel, Murat;
- Šestan, Nenad;
- State, Matthew W
Publication type:
Article
Building a Precision Medicine Delivery Platform for Clinics: The University of California, San Francisco, BRIDGE Experience.
Published in:
2022
By:
- Bove, Riley;
- Schleimer, Erica;
- Sukhanov, Paul;
- Gilson, Michael;
- Law, Sindy M;
- Barnecut, Andrew;
- Miller, Bruce L;
- Hauser, Stephen L;
- Sanders, Stephan J;
- Rankin, Katherine P
Publication type:
journal article
Sex and gender differences in autism spectrum disorder: summarizing evidence gaps and identifying emerging areas of priority.
Published in:
Molecular Autism, 2015, v. 6, n. 1, p. 1, doi. 10.1186/s13229-015-0019-y
By:
- Halladay, Alycia K.;
- Bishop, Somer;
- Constantino, John N.;
- Daniels, Amy M.;
- Koenig, Katheen;
- Palmer, Kate;
- Messinger, Daniel;
- Pelphrey, Kevin;
- Sanders, Stephan J.;
- Singer, Alison Tepper;
- Taylor, Julie Lounds;
- Szatmari, Peter
Publication type:
Article
The female protective effect in autism spectrum disorder is not mediated by a single genetic locus.
Published in:
Molecular Autism, 2015, v. 6, n. 1, p. 1, doi. 10.1186/s13229-015-0014-3
By:
- Gockley, Jake;
- Willsey, A. Jeremy;
- Shan Dong;
- Dougherty, Joseph D.;
- Constantino, John N.;
- Sanders, Stephan J.
Publication type:
Article
DAWN: a framework to identify autism genes and subnetworks using gene expression and genetics.
Published in:
Molecular Autism, 2014, v. 5, n. 1, p. 1, doi. 10.1186/2040-2392-5-22
By:
- Li Liu;
- Jing Lei;
- Sanders, Stephan J.;
- Willsey, Arthur Jeremy;
- Yan Kou;
- Cicek, Abdullah Ercument;
- Klei, Lambertus;
- Cong Lu;
- Xin He;
- Mingfeng Li;
- Muhle, Rebecca A.;
- Ma'ayan, Avi;
- Noonan, James P.;
- Sestan, Nenad;
- McFadden, Kathryn A.;
- State, Matthew W.;
- Buxbaum, Joseph D.;
- Devlin, Bernie;
- Roeder, Kathryn
Publication type:
Article
Common genetic variants, acting additively, are a major source of risk for autism.
Published in:
Molecular Autism, 2012, v. 3, n. 1, p. 1, doi. 10.1186/2040-2392-3-9
By:
- Klei, Lambertus;
- Sanders, Stephan J.;
- Murtha, Michael T.;
- Hus, Vanessa;
- Lowe, Jennifer K.;
- Jeremy Willsey, A.;
- Moreno-De-Luca, Daniel;
- Yu, Timothy W.;
- Fombonne, Eric;
- Geschwind, Daniel;
- Grice, Dorothy E.;
- Ledbetter, David H.;
- Lord, Catherine;
- Mane, Shrikant M.;
- Martin, Christa Lese;
- Martin, Donna M.;
- Morrow, Eric M.;
- Walsh, Christopher A.;
- Melhem, Nadine M.;
- Chaste, Pauline
Publication type:
Article
Extrathymic Aire-expressing cells support maternal-fetal tolerance.
Published in:
Science Immunology, 2021, v. 6, n. 61, p. 1, doi. 10.1126/sciimmunol.abf1968
By:
- Gillis-Buck, Eva;
- Miller, Haleigh;
- Sirota, Marina;
- Sanders, Stephan J.;
- Ntranos, Vasilis;
- Anderson, Mark S.;
- Gardner, James M.;
- MacKenzie, Tippi C.
Publication type:
Article
CWAS-Plus: estimating category-wide association of rare noncoding variation from whole-genome sequencing data with cell-type-specific functional data.
Published in:
Briefings in Bioinformatics, 2024, v. 25, n. 4, p. 1, doi. 10.1093/bib/bbae323
By:
- Kim, Yujin;
- Jeong, Minwoo;
- Koh, In Gyeong;
- Kim, Chanhee;
- Lee, Hyeji;
- Kim, Jae Hyun;
- Yurko, Ronald;
- Kim, Il Bin;
- Park, Jeongbin;
- Werling, Donna M;
- Sanders, Stephan J;
- An, Joon-Yong
Publication type:
Article
The autism-associated chromatin modifier CHD8 regulates other autism risk genes during human neurodevelopment.
Published in:
Nature Communications, 2015, v. 6, n. 3, p. 6404, doi. 10.1038/ncomms7404
By:
- Cotney, Justin;
- Muhle, Rebecca A.;
- Sanders, Stephan J.;
- Liu, Li;
- Willsey, A. Jeremy;
- Niu, Wei;
- Liu, Wenzhong;
- Klei, Lambertus;
- Lei, Jing;
- Yin, Jun;
- Reilly, Steven K.;
- Tebbenkamp, Andrew T.;
- Bichsel, Candace;
- Pletikos, Mihovil;
- Sestan, Nenad;
- Roeder, Kathryn;
- State, Matthew W.;
- Devlin, Bernie;
- Noonan, James P.
Publication type:
Article
KCNT2‐Related Disorders: Phenotypes, Functional, and Pharmacological Properties.
Published in:
Annals of Neurology, 2023, v. 94, n. 2, p. 332, doi. 10.1002/ana.26662
By:
- Cioclu, Maria Cristina;
- Mosca, Ilaria;
- Ambrosino, Paolo;
- Puzo, Deborah;
- Bayat, Allan;
- Wortmann, Saskia B.;
- Koch, Johannes;
- Strehlow, Vincent;
- Shirai, Kentaro;
- Matsumoto, Naomichi;
- Sanders, Stephan J.;
- Michaud, Vincent;
- Legendre, Marine;
- Riva, Antonella;
- Striano, Pasquale;
- Muhle, Hiltrud;
- Pendziwiat, Manuela;
- Lesca, Gaetan;
- Mangano, Giuseppe Donato;
- Nardello, Rosaria
Publication type:
Article
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
Published in:
Human Molecular Genetics, 2011, v. 20, n. 22, p. 4360, doi. 10.1093/hmg/ddr363
By:
- Celestino-Soper, Patricia B.S.;
- Shaw, Chad A.;
- Sanders, Stephan J.;
- Li, Jian;
- Murtha, Michael T.;
- Ercan-Sencicek, A. Gulhan;
- Davis, Lea;
- Thomson, Susanne;
- Gambin, Tomasz;
- Chinault, A. Craig;
- Ou, Zhishuo;
- German, Jennifer R.;
- Milosavljevic, Aleksandar;
- Sutcliffe, James S.;
- Cook, Edwin H.;
- Stankiewicz, Pawel;
- State, Matthew W.;
- Beaudet, Arthur L.
Publication type:
Article
Loss of δ-catenin function in severe autism.
Published in:
Nature, 2015, v. 520, n. 7545, p. 51, doi. 10.1038/nature14186
By:
- Turner, Tychele N.;
- Sharma, Kamal;
- Oh, Edwin C.;
- Liu, Yangfan P.;
- Collins, Ryan L.;
- Sosa, Maria X.;
- Auer, Dallas R.;
- Brand, Harrison;
- Sanders, Stephan J.;
- Moreno-De-Luca, Daniel;
- Pihur, Vasyl;
- Plona, Teri;
- Pike, Kristen;
- Soppet, Daniel R.;
- Smith, Michael W.;
- Cheung, Sau Wai;
- Martin, Christa Lese;
- State, Matthew W.;
- Talkowski, Michael E.;
- Cook, Edwin
Publication type:
Article
De novo mutations revealed by whole-exome sequencing are strongly associated with autism.
Published in:
Nature, 2012, v. 485, n. 7397, p. 237, doi. 10.1038/nature10945
By:
- Sanders, Stephan J.;
- Murtha, Michael T.;
- Gupta, Abha R.;
- Murdoch, John D.;
- Raubeson, Melanie J.;
- Willsey, A. Jeremy;
- Ercan-Sencicek, A. Gulhan;
- DiLullo, Nicholas M.;
- Parikshak, Neelroop N.;
- Stein, Jason L.;
- Walker, Michael F.;
- Ober, Gordon T.;
- Teran, Nicole A.;
- Song, Youeun;
- El-Fishawy, Paul;
- Murtha, Ryan C.;
- Choi, Murim;
- Overton, John D.;
- Bjornson, Robert D.;
- Carriero, Nicholas J.
Publication type:
Article
Genotype to phenotype relationships in autism spectrum disorders.
Published in:
Nature Neuroscience, 2015, v. 18, n. 2, p. 191, doi. 10.1038/nn.3907
By:
- Chang, Jonathan;
- Gilman, Sarah R;
- Chiang, Andrew H;
- Sanders, Stephan J;
- Vitkup, Dennis
Publication type:
Article
Prenatal Somatic Cell Gene Therapies: Charting a Path Toward Clinical Applications (Proceedings of the CERSI‐FDA Meeting).
Published in:
Journal of Clinical Pharmacology, 2022, v. 62, p. S36, doi. 10.1002/jcph.2127
By:
- Herzeg, Akos;
- Almeida‐Porada, Graça;
- Charo, R. Alta;
- David, Anna L.;
- Gonzalez‐Velez, Juan;
- Gupta, Nalin;
- Lapteva, Larissa;
- Lianoglou, Billie;
- Peranteau, William;
- Porada, Christopher;
- Sanders, Stephan J.;
- Sparks, Teresa N.;
- Stitelman, David H.;
- Struble, Evi;
- Sumner, Charlotte J.;
- MacKenzie, Tippi C.
Publication type:
Article
No Evidence for Association of Autism with Rare Heterozygous Point Mutations in Contactin-Associated Protein-Like 2 (CNTNAP2), or in Other Contactin-Associated Proteins or Contactins.
Published in:
PLoS Genetics, 2015, v. 11, n. 1, p. 1, doi. 10.1371/journal.pgen.1004852
By:
- Murdoch, John D.;
- Gupta, Abha R.;
- Sanders, Stephan J.;
- Walker, Michael F.;
- Keaney, John;
- Fernandez, Thomas V.;
- Murtha, Michael T.;
- Anyanwu, Samuel;
- Ober, Gordon T.;
- Raubeson, Melanie J.;
- DiLullo, Nicholas M.;
- Villa, Natalie;
- Waqar, Zainabdul;
- Sullivan, Catherine;
- Gonzalez, Luis;
- Willsey, A. Jeremy;
- Choe, So-Yeon;
- Neale, Benjamin M.;
- Daly, Mark J.;
- State, Matthew W.
Publication type:
Article
Integrated Model of <i>De Novo</i> and Inherited Genetic Variants Yields Greater Power to Identify Risk Genes.
Published in:
PLoS Genetics, 2013, v. 9, n. 8, p. 1, doi. 10.1371/journal.pgen.1003671
By:
- He, Xin;
- Sanders, Stephan J.;
- Liu, Li;
- De Rubeis, Silvia;
- Lim, Elaine T.;
- Sutcliffe, James S.;
- Schellenberg, Gerard D.;
- Gibbs, Richard A.;
- Daly, Mark J.;
- Buxbaum, Joseph D.;
- State, Matthew W.;
- Devlin, Bernie;
- Roeder, Kathryn
Publication type:
Article
The Conundrum of Mechanics Versus Genetics in Congenital Hydrocephalus and Its Implications for Fetal Therapy Approaches: A Scoping Review.
Published in:
Prenatal Diagnosis, 2024, v. 44, n. 11, p. 1354, doi. 10.1002/pd.6654
By:
- Herzeg, Akos;
- Borges, Beltran;
- Diafos, Loukas N.;
- Gupta, Nalin;
- MacKenzie, Tippi C.;
- Sanders, Stephan J.
Publication type:
Article
A Cre-dependent massively parallel reporter assay allows for cell-type specific assessment of the functional effects of non-coding elements in vivo.
Published in:
Communications Biology, 2023, v. 6, n. 1, p. 1, doi. 10.1038/s42003-023-05483-w
By:
- Lagunas Jr., Tomas;
- Plassmeyer, Stephen P.;
- Fischer, Anthony D.;
- Friedman, Ryan Z.;
- Rieger, Michael A.;
- Selmanovic, Din;
- Sarafinovska, Simona;
- Sol, Yvette K.;
- Kasper, Michael J.;
- Fass, Stuart B.;
- Aguilar Lucero, Alessandra F.;
- An, Joon-Yong;
- Sanders, Stephan J.;
- Cohen, Barak A.;
- Dougherty, Joseph D.
Publication type:
Article
Patterns of delay in early gross motor and expressive language milestone attainment in probands with genetic conditions versus idiopathic ASD from SFARI registries.
Published in:
Journal of Child Psychology, 2021, v. 62, n. 11, p. 1297, doi. 10.1111/jcpp.13492
By:
- Wickstrom, Jordan;
- Farmer, Cristan;
- Green Snyder, LeeAnne;
- Mitz, Andrew R.;
- Sanders, Stephan J.;
- Bishop, Somer;
- Thurm, Audrey
Publication type:
Article
Prenatal exposure to paternal smoking and likelihood for autism spectrum disorder.
Published in:
Autism: The International Journal of Research & Practice, 2021, v. 25, n. 7, p. 1946, doi. 10.1177/13623613211007319
By:
- Kim, Bora;
- Ha, Mina;
- Kim, Young Shin;
- Koh, Yun-Joo;
- Dong, Shan;
- Kwon, Ho-Jang;
- Kim, Young-Suk;
- Lim, Myung-Ho;
- Paik, Ki-Chung;
- Yoo, Seung-Jin;
- Kim, Hosanna;
- Hong, Patricia S;
- Sanders, Stephan J;
- Leventhal, Bennett L
Publication type:
Article
Multiplex, single-cell CRISPRa screening for cell type specific regulatory elements.
Published in:
Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-52490-4
By:
- Chardon, Florence M.;
- McDiarmid, Troy A.;
- Page, Nicholas F.;
- Daza, Riza M.;
- Martin, Beth K.;
- Domcke, Silvia;
- Regalado, Samuel G.;
- Lalanne, Jean-Benoît;
- Calderon, Diego;
- Li, Xiaoyi;
- Starita, Lea M.;
- Sanders, Stephan J.;
- Ahituv, Nadav;
- Shendure, Jay
Publication type:
Article
Clinical impact of splicing in neurodevelopmental disorders.
Published in:
Genome Medicine, 2020, v. 12, n. 1, p. 1, doi. 10.1186/s13073-020-00737-2
By:
- Sanders, Stephan J.;
- Schwartz, Grace B.;
- Farh, Kyle Kai-How
Publication type:
Article

Found: 36