Clinical Genetics Research

Investigators in NYU Langone’s Division of Clinical Genetics perform research in genetics with the aim to improve treatments for children with genetic conditions. The division’s pediatric research foci include arthrogryposis, autism spectrum disorder, developmental delays, overgrowth syndrome, and skeletal dysplasia. Through our Pediatric Undiagnosed Diseases Program, we study families with suspected genetic diseases for whom all clinical testing has been nondiagnostic.

Faculty are studying how specific genetic factors affect the presentation of autism in hopes of creating individualized care for this increasingly prevalent condition. This research covers novel genes and novel genetic variants associated with diverse conditions, including chromosomal syndrome, neurodevelopmental disorders, and Mendelian syndromes.

Members of the division also investigate how genetic factors affect developmental delays in children and study the role of genetics in overgrowth syndromes in children and adults to help identify associated cancers.

Recent Publications

Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders

Cali, Elisa; Quirin, Tania; Rocca, Clarissa; Efthymiou, Stephanie; Riva, Antonella; Marafi, Dana; Zaki, Maha S; Suri, Mohnish; Dominguez, Roberto; Elbendary, Hasnaa M; Alavi, Shahryar; Abdel-Hamid, Mohamed S; Morsy, Heba; Mau-Them, Frederic Tran; Nizon, Mathilde; Tesner, Pavel; Ryba, LukÃ¡Å¡; Zafar, Faisal; Rana, Nuzhat; Saadi, Nebal W; Firoozfar, Zahra; Gencpinar, Pinar; Unay, Bulent; Ustun, Canan; Bruel, Ange-Line; Coubes, Christine; Stefanich, Jennifer; Sezer, Ozlem; Agolini, Emanuele; Novelli, Antonio; Vasco, Gessica; Lettori, Donatella; Milh, Mathieu; Villard, Laurent; Zeidler, Shimriet; Opperman, Henry; Strehlow, Vincent; Issa, Mahmoud Y; El Khassab, Hebatallah; Chand, Prem; Ibrahim, Shahnaz; Nejad-Rashidi, Ali; Miryounesi, Mohammad; Larki, Pegah; Morrison, Jennifer; Cristian, Ingrid; Thiffault, Isabelle; Bertsch, Nicole L; Noh, Grace J; Pappas, John; Moran, Ellen; Marinakis, Nikolaos M; Traeger-Synodinos, Joanne; Hosseini, Susan; Abbaszadegan, Mohammad Reza; Caumes, Roseline; Vissers, Lisenka E L M; Neshatdoust, Maedeh; Montazer, Mostafa Zohour; El Fahime, Elmostafa; Canavati, Christin; Kamal, Lara; Kanaan, Moien; Askander, Omar; Voinova, Victoria; Levchenko, Olga; Haider, Shahzhad; Halbach, Sara S; Maia, Elias Rayana; Mansoor, Salehi; Vivek, Jain; Tawde, Sanjukta; Santhosh R Challa, Viveka; Gowda, Vykuntaraju K; Srinivasan, Varunvenkat M; Victor, Lucas Alves; Pinero-Banos, Benito; Hague, Jennifer; Ei-Awady, Heba Ahmed; Maria de Miranda Henriques-Souza, Adelia; Cheema, Huma Arshad; Anjum, Muhammad Nadeem; Idkaidak, Sara; Alqarajeh, Firas; Atawneh, Osama; Mor-Shaked, Hagar; Harel, Tamar; Zifarelli, Giovanni; Bauer, Peter; Kok, Fernando; Kitajima, Joao Paulo; Monteiro, Fabiola; Josahkian, Juliana; Lesca, Gaetan; Chatron, Nicolas; Ville, Dorothe; Murphy, David; Neul, Jeffrey L; Mullegama, Sureni V; Begtrup, Amber; Herman, Isabella; Mitani, Tadahiro; Posey, Jennifer E; Tay, Chee Geap; Javed, Iram; Carr, Lucinda; Kanani, Farah; Beecroft, Fiona; Hane, Lee; Abdelkreem, Elsayed; Macek, Milan; Bispo, Luciana; Elmaksoud, Marwa Abd; Hashemi-Gorji, Farzad; Pehlivan, Davut; Amor, David J; Jamra, Rami Abou; Chung, Wendy K; Ghayoor, Eshan Karimiani; Campeau, Philippe; Alkuraya, Fowzan S; Pagnamenta, Alistair T; Gleeson, Joseph; Lupski, James R; Striano, Pasquale; Moreno-De-Luca, Andres; Lafontaine, Denis L J; Houlden, Henry; Maroofian, Reza

Genetics in medicine : official journal of the American College of Medical Genetics. 2024 Sep 10; 101251

Uptake of Cancer Genetic Services for Chatbot vs Standard-of-Care Delivery Models: The BRIDGE Randomized Clinical Trial

Kaphingst, Kimberly A; Kohlmann, Wendy K; Lorenz Chambers, Rachelle; Bather, Jemar R; Goodman, Melody S; Bradshaw, Richard L; Chavez-Yenter, Daniel; Colonna, Sarah V; Espinel, Whitney F; Everett, Jessica N; Flynn, Michael; Gammon, Amanda; Harris, Adrian; Hess, Rachel; Kaiser-Jackson, Lauren; Lee, Sang; Monahan, Rachel; Schiffman, Joshua D; Volkmar, Molly; Wetter, David W; Zhong, Lingzi; Mann, Devin M; Ginsburg, Ophira; Sigireddi, Meenakshi; Kawamoto, Kensaku; Del Fiol, Guilherme; Buys, Saundra S

JAMA network open. 2024 Sep 03; 7:e2432143

Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations

Werren, Elizabeth A; Peirent, Emily R; Jantti, Henna; Guxholli, Alba; Srivastava, Kinshuk Raj; Orenstein, Naama; Narayanan, Vinodh; Wiszniewski, Wojciech; Dawidziuk, Mateusz; Gawlinski, Pawel; Umair, Muhammad; Khan, Amjad; Khan, Shahid Niaz; GeneviÃ¨ve, David; Lehalle, DaphnÃ©; van Gassen, K L I; Giltay, Jacques C; Oegema, Renske; van Jaarsveld, Richard H; Rafiullah, Rafiullah; Rappold, Gudrun A; Rabin, Rachel; Pappas, John G; Wheeler, Marsha M; Bamshad, Michael J; Tsan, Yao-Chang; Johnson, Matthew B; Keegan, Catherine E; Srivastava, Anshika; Bielas, Stephanie L

Cell death & disease. 2024 May 30; 15:379

Relapsing White Matter Disease and Subclinical Optic Neuropathy: From the National Multiple Sclerosis Society Case Conference Proceedings

O'Neill, Kimberly A; Dugue, Andrew; Abreu, Nicolas J; Balcer, Laura J; Branche, Marc; Galetta, Steven; Graves, Jennifer; Kister, Ilya; Magro, Cynthia; Miller, Claire; Newsome, Scott D; Pappas, John; Rucker, Janet; Steigerwald, Connolly; William, Christopher M; Zamvil, Scott S; Grossman, Scott N; Krupp, Lauren B

Neurology neuroimmunology & neuroinflammation. 2024 Mar ; 11:e200194

CLN2 disease resulting from a novel homozygous deep intronic splice variant in TPP1 discovered using long-read sequencing

Steigerwald, Connolly; Borsuk, Jill; Pappas, John; Galey, Miranda; Scott, Anna; Devaney, Joseph M; Miller, Danny E; Abreu, Nicolas J

Molecular genetics & metabolism. 2023 Dec ; 140:107713

Clinical Heterogeneity and Different Phenotypes in Patients with SETD2 Variants: 18 New Patients and Review of the Literature

Parra, Alejandro; Rabin, Rachel; Pappas, John; Pascual, Patricia; Cazalla, Mario; Arias, Pedro; Gallego-Zazo, Natalia; Santana, Alfredo; Arroyo, Ignacio; Artigas, Mercè; Pachajoa, Harry; Alanay, Yasemin; Akgun-Dogan, Ozlem; Ruaud, Lyse; Couque, Nathalie; Levy, Jonathan; Porras-Hurtado, Gloria Liliana; Santos-Simarro, Fernando; Ballesta-Martinez, Maria Juliana; Guillén-Navarro, Encarna; Muñoz-Hernández, Hugo; Nevado, Julián; Tenorio-Castano, Jair; Lapunzina, Pablo

Genes. 2023 May 29; 14:

Biochemical characterization of two novel mutations in the human high-affinity choline transporter 1 identified in a patient with congenital myasthenic syndrome

Rizvi, Midhat; Truong, Tina K; Zhou, Janet; Batta, Manav; Moran, Ellen S; Pappas, John; Chu, Mary Lynn; Caluseriu, Oana; Evrony, Gilad D; Leslie, Elaine M; Cordat, Emmanuelle

Human molecular genetics. 2023 Apr 20; 32:1552-1564

Impaired protein hydroxylase activity causes replication stress and developmental abnormalities in humans

Fletcher, Sally C; Hall, Charlotte L; Kennedy, Tristan J; Pajusalu, Sander; Wojcik, Monica H; Boora, Uncaar; Li, Chan; Oja, Kaisa Teele; Hendrix, Eline; Westrip, Christian Ae; Andrijes, Regina; Piasecka, Sonia K; Singh, Mansi; El-Asrag, Mohammed E; Ptasinska, Anetta; Tillmann, Vallo; Higgs, Martin R; Carere, Deanna Alexis; Beggs, Andrew D; Pappas, John; Rabin, Rachel; Smerdon, Stephen J; Stewart, Grant S; Õunap, Katrin; Coleman, Mathew L

Journal of clinical investigation. 2023 Apr 03; 133:

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Clinical Genetics Research | NYU Langone Health