Publications

41 Results (Filters Applied)
  • Neurodegenerative Disease x
Genetics in Medicine. 2023 May 5.

Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients.

Noura S. Abul-Husn, Priya N. Marathe, Nicole R. Kelly, Katherine E. Bonini, Monisha Sebastin, Jacqueline A. Odgis, Avinash Abhyankar, Kaitlyn Brown, Miranda Di Biase, Katie M. Gallagher, Saurav Guha, Nicolette Ioele, Volkan Okur, Michelle A. Ramos, Jessica E. Rodriguez, Atteeq U. Rehman, Amanda Thomas-Wilson, Lisa Edelmann, Randi E. Zinberg, George A. Diaz, John M. Greally, Vaidehi Jobanputra, Sabrina A. Suckiel, Carol R. Horowitz, Melissa P. Wasserstein, Eimear E. Kenny, Bruce D. Gelb

Brain. 2023 Feb. 17.

Unexpected frequency of the pathogenic AR CAG repeat expansion in the general population.

Matteo Zanovello, Kristina Ibáñez, Anna-Leigh Brown, Prasanth Sivakumar, Alessandro Bombaci, Liana Santos, Joke J F A van Vugt, Giuseppe Narzisi, Ramita Karra, Sonja Scholz, Jinhui Ding, J Raphael Gibbs, Adriano Chiò, Clifton Dalgard, Ben Weisburd, The American Genome Center (TAGC) consortium, Genomics England Research Consortium , Project MinE ALS Sequencing Consortium , The NYGC ALS Consortium, Michael G Hanna, Linda Greensmith, Hemali Phatnani, Jan H Veldink, Bryan J Traynor, James Polke, Henry Houlden, Pietro Fratta, Arianna Tucci

Neuron. 2023 Feb. 1.

A cellular taxonomy of the adult human spinal cord.

Archana Yadav, Kaya J E Matson, Li Li, Isabelle Hua, Joana Petrescu, Kristy Kang, Mor R Alkaslasi, Dylan I Lee, Saadia Hasan, Ahmad Galuta, Annemarie Dedek, Sara Ameri, Jessica Parnell, Mohammad M Alshardan, Feras Abbas Qumqumji, Saud M Alhamad, Alick Pingbei Wang, Gaetan Poulen, Nicolas Lonjon, Florence Vachiery-Lahaye, Pallavi Gaur, Mike A Nalls, Yue A Qi, Dragan Maric, Michael E Ward, Michael E Hildebrand, Pierre-Francois Mery, Emmanuel Bourinet, Luc Bauchet, Eve C Tsai, Hemali Phatnani, Claire E Le Pichon, Vilas Menon, Ariel J Levine

American Journal of Medical Genetics. 2022 Dec. 23.

Detection of mosaic variants using genome sequencing in a large pediatric cohort.

Jacqueline A. Odgis, Katie M. Gallagher, Atteeq U. Rehman, Priya N. Marathe, Katherine E. Bonini, Monisha Sebastin, Miranda Di Biase, Kaitlyn Brown, Nicole R. Kelly, Michelle A. Ramos, Amanda Thomas-Wilson, Saurav Guha, Volkan Okur, Mythily Ganapathi, Lama Elkhoury, Lisa Edelmann, Randi E. Zinberg, Noura S. Abul-Husn, George A. Diaz, John M. Greally, Sabrina A. Suckiel, Vaidehi Jobanputra, Carol R. Horowitz, Eimear E. Kenny, Melissa P. Wasserstein, Bruce D. Gelb

PNAS Nexus. 2022 June 24.

Retromer dysfunction in amyotrophic lateral sclerosis.

Eduardo J Pérez-Torres, Irina Utkina-Sosunova, Vartika Mishra, Peter Barbuti, Mariangels De Planell-Saguer, Georgia Dermentzaki , Heather Geiger, Anna O Basile, Nicolas Robine, Delphine Fagegaltier, Kristin A Politi, Paola Rinchetti, Vernice Jackson-Lewis, NYGC ALS Consortium; Matthew Harms, Hemali Phatnani, Francesco Lotti, Serge Przedborski

Nature Neuroscience. 2022 March 31.

Whole-genome sequencing reveals that variants in the Interleukin 18 Receptor Accessory Protein 3′UTR protect against ALS.

Chen Eitan, Aviad Siany, Elad Barkan, Tsviya Olender, Kristel R. van Eijk, Matthieu Moisse, Sali M. K. Farhan, Yehuda M. Danino, Eran Yanowski, Hagai Marmor-Kollet, Natalia Rivkin, Nancy Sarah Yacovzada, Shu-Ting Hung, Johnathan Cooper-Knock, Chien-Hsiung Yu, Cynthia Louis, Seth L. Masters, Kevin P. Kenna, Rick A. A. van der Spek, William Sproviero, Ahmad Al Khleifat, Alfredo Iacoangeli, Aleksey Shatunov, Ashley R. Jones, Yael Elbaz-Alon, Yahel Cohen, Elik Chapnik, Daphna Rothschild, Omer Weissbrod, Gilad Beck, Elena Ainbinder, Shifra Ben-Dor, Sebastian Werneburg, Dorothy P. Schafer, Robert H. Brown Jr, Pamela J. Shaw, Philip Van Damme, Leonard H. van den Berg, Hemali Phatnani, Eran Segal, Justin K. Ichida, Ammar Al-Chalabi, Jan H. Veldink, Project MinE ALS Sequencing Consortium, NYGC ALS Consortium & Eran Hornstein

Cell Genomics. 2022 March 9.

Single nucleus multi-omics identifies human cortical cell regulatory genome diversity.

Chongyuan Luo, Hanqing Liu, Fangming Xie, Ethan J. Armand, Kimberly Siletti, Trygve E. Bakken, Rongxin Fang, Wayne I. Doyle, Tim Stuart, Rebecca D. Hodge, Lijuan Hu, Bang-An Wang, Zhuzhu Zhang, Sebastian Preissl, Dong-Sung Lee, Jingtian Zhou, Sheng-Yong Niu, Rosa Castanon, Anna Bartlett, Angeline Rivkin, Xinxin Wang, Jacinta Lucero, Joseph R. Nery, David A. Davis, Deborah C. Mash, Rahul Satija, Jesse R. Dixon, Sten Linnarsson, Ed Lein, M. Margarita Behrens, Bing Ren, Eran A. Mukamel, Joseph R. Ecker

Nature. 2022 Feb. 23.

TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A.

Anna-Leigh Brown, Oscar G. Wilkins, Matthew J. Keuss, Sarah E. Hill, Matteo Zanovello, Weaverly Colleen Lee, Alexander Bampton, Flora C. Y. Lee, Laura Masino, Yue A. Qi, Sam Bryce-Smith, Ariana Gatt, Martina Hallegger, Delphine Fagegaltier, Hemali Phatnani, NYGC ALS Consortium, Jia Newcombe, Emil K. Gustavsson, Sahba Seddighi, Joel F. Reyes, Steven L. Coon, Daniel Ramos, Giampietro Schiavo, Elizabeth M. C. Fisher, Towfique Raj, Maria Secrier, Tammaryn Lashley, Jernej Ule, Emanuele Buratti, Jack Humphrey, Michael E. Ward & Pietro Fratta

Seminars in Cancer Biology. 2021 June 25.

Clinical utility of whole-genome sequencing in precision oncology.

Richard Rosenquist, Edwin Cuppen, Reinhard Buettner, Carlos Caldas, Helene Dreau, Olivier Elemento, Geert Frederix, Sean Grimmond, Torsten Haferlach, Vaidehi Jobanputra, Manja Meggendorfer, Charles G Mullighan, Sarah Wordsworth, Anna Schuh

This work was partially supported by a gift from the Simons Foundation.