Publication Archives - Page 13 of 67 - New York Genome Center

Science Advances · March 22, 2024

Childhood cancer mutagenesis caused by transposase-derived PGBD5.

Makiko Yamada, Ross R Keller, Rodrigo Lopez Gutierrez, Daniel Cameron, Hiromichi Suzuki, Reeti Sanghrajka, Jake Vaynshteyn, Jeffrey Gerwin, Francesco Maura, William Hooper, Minita Shah, Nicolas Robine, Phillip Demarest, N Sumru Bayin, Luz Jubierre Zapater, Casie Reed, Steven Hébert, Ignas Masilionis, Ronan Chaligne, Nicholas D Socci, Michael D Taylor, Claudia L Kleinman, Alexandra L Joyner, G Praveen Raju, Alex Kentsis

Computational Biology Lab

NPJ Genomic Medicine · March 22, 2024

Genomic analysis of 116 autism families strengthens known risk genes and highlights promising candidates.

Marta Viggiano, Fabiola Ceroni, Paola Visconti, Annio Posar, Maria Cristina Scaduto, Laura Sandoni, Irene Baravelli, Cinzia Cameli, Magali J. Rochat, Alessandra Maresca, Alessandro Vaisfeld, Davide Gentilini, Luciano Calzari, Valerio Carelli, Michael C. Zody, Elena Maestrini & Elena Bacchelli

Computational Biology Lab

STAR Protocols · March 20, 2024

GoT-Splice protocol for multi-omics profiling of gene expression, cell-surface proteins, mutational status, and RNA splicing in human cells.

Ganesan S, Cortés-López M, Swett AD, Dai X, Hickey S, Chamely P, Hawkins AG, Juul S, Landau DA, Gaiti F.

Landau Lab

JMIR Publications · March 15, 2024

A Closed-Loop Digital Health Tool to Improve Depression Care in Multiple Sclerosis: Iterative Design and Cross-Sectional Pilot Randomized Controlled Trial and its Impact on Depression Care.

Kyra Henderson, Jennifer Reihm, Kanishka Koshal, Jaeleene Wijangco, Narender Sara, Nicolette Miller, Marianne Doyle, Alicia Mallory, Judith Sheridan, Chu-Yueh Guo, Lauren Oommen, Katherine P Rankin, Stephan Sanders, Anthony Feinstein, Christina Mangurian, Riley Bove

Sanders Lab

Neuropsychiatric Disease

Molecular Psychiatry · March 14, 2024

Early-life prefrontal cortex inhibition and early-life stress lead to long-lasting behavioral, transcriptional, and physiological impairments.

Edênia C. Menezes, Heather Geiger, Fabiula F. Abreu, Lital Rachmany, Donald A. Wilson, Melissa J. Alldred, Francisco X. Castellanos, Rui Fu, Derya Sargin, André Corvelo & Cátia M. Teixeira

Computational Biology Lab

PLoS One · March 13, 2024

The impact of genetically controlled splicing on exon inclusion and protein structure.

Jonah Einson, Mariia Minaeva, Faiza Rafi, Tuuli Lappalainen

Lappalainen Lab

Biology, Genomics & Technology Population Genomics

European Journal of Human Genetics · March 11, 2024

Evidence for the additivity of rare and common variant burden throughout the spectrum of intellectual disability.

Lea Urpa, Mitja I. Kurki, Elisa Rahikkala, Eija Hämäläinen, Veikko Salomaa, Jaana Suvisaari, Riikka Keski-Filppula, Merja Rauhala, Satu Korpi-Heikkilä, … Tarjinder Singh, Outi Kuismin, Olli Pietiläinen, Aarno Palotie & Mark J. Daly

Singh Lab

Neuropsychiatric Disease

Science Direct. · March 11, 2024

Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group.

Ryan J Schmidt, Marcie Steeves, Pinar Bayrak-Toydemir, Katherine A Benson, Bradley P Coe, Laura K Conlin, Mythily Ganapathi, John Garcia, Michael H Gollob, Vaidehi Jobanputra, Minjie Luo, Deqiong Ma, Glenn Maston, Kelly McGoldrick, T Blake Palculict, Tina Pesaran, Toni I Pollin, Emily Qian, Heidi L Rehm, Erin R Riggs, Samantha L P Schilit, Panagiotis I Sergouniotis, Tatiana Tvrdik, Nicholas Watkins, Lauren Zec, Wenying Zhang, Matthew S Lebo; ClinGen Low Penetrance/Risk Allele Working Group.

Biology, Genomics & Technology Clinical Genetics

Applied Clinical Informatics. · March 6, 2024