Clinical Genetics Research | NYU Langone Health

Division of Clinical Genetics Clinical Genetics Research

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

Deficiency of the Fanconi anemia core complex protein FAAP100 results in severe Fanconi anemia

Harrison, Benjamin A; Mizrahi-Powell, Emma; Pappas, John; Thomas, Kristen; Vasishta, Subrahmanya; Hebbar, Shripad; Shukla, Anju; Nayak, Shalini S; Truong, Tina K; Woroch, Amy; Kharbutli, Yara; Gelb, Bruce D; Mintz, Cassie S; Evrony, Gilad D; Smogorzewska, Agata

The Journal of clinical investigation. 2025 Apr 17;

Pathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrum

Verbinnen, Iris; Douzgou Houge, Sofia; Hsieh, Tzung-Chien; Lesmann, Hellen; Kirchhoff, Aron; Geneviève, David; Brimble, Elise; Lenaerts, Lisa; Haesen, Dorien; Levy, Rebecca J; Thevenon, Julien; Faivre, Laurence; Marco, Elysa; Chong, Jessica X; Bamshad, Mike; Patterson, Karynne; Mirzaa, Ghayda M; Foss, Kimberly; Dobyns, William; White, Susan M; Pais, Lynn; O'Heir, Emily; Itzikowitz, Raphaela; Donald, Kirsten A; Van der Merwe, Celia; Mussa, Alessandro; Cervini, Raffaela; Giorgio, Elisa; Roscioli, Tony; Dias, Kerith-Rae; Evans, Carey-Anne; Brown, Natasha J; Ruiz, Anna; Trujillo Quintero, Juan Pablo; Rabin, Rachel; Pappas, John; Yuan, Hai; Lachlan, Katherine; Thomas, Simon; Devlin, Anita; Wright, Michael; Martin, Richard; Karwowska, Joanna; Posmyk, Renata; Chatron, Nicolas; Stark, Zornitza; Heath, Oliver; Delatycki, Martin; Buchert, Rebecca; Korenke, Georg-Christoph; Ramsey, Keri; Narayanan, Vinodh; Grange, Dorothy K; Weisenberg, Judith L; Haack, Tobias B; Karch, Stephanie; Kipkemoi, Patricia; Mangi, Moses; Bindels de Heus, Karen G C B; de Wit, Marie-Claire Y; Barakat, Tahsin Stefan; Lim, Derek; Van Winckel, Géraldine; Spillmann, Rebecca C; Shashi, Vandana; Jacob, Maureen; Stehr, Antonia M; ,; Krawitz, Peter; Douzgos Houge, Gunnar; Janssens, Veerle

American journal of human genetics. 2025 Mar 06; 112:554-571

DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders

Lessel, Ivana; Baresic, Anja; Chinn, Ivan K; May, Jonathan; Goenka, Anu; Chandler, Kate E; Posey, Jennifer E; Afenjar, Alexandra; Averdunk, Luisa; Bedeschi, Maria Francesca; Besnard, Thomas; Brager, Rae; Brick, Lauren; Brugger, Melanie; Brunet, Theresa; Byrne, Susan; Calle-Martín, Oscar de la; Capra, Valeria; Cardenas, Paul; Chappé, Céline; Chong, Hey J; Cogne, Benjamin; Conboy, Erin; Cope, Heidi; Courtin, Thomas; Deb, Wallid; Dilena, Robertino; Dubourg, Christèle; Elgizouli, Magdeldin; Fernandes, Erica; Fitzgerald, Kristi K; Gangi, Silvana; George-Abraham, Jaya K; Gucsavas-Calikoglu, Muge; Haack, Tobias B; Hadonou, Medard; Hanker, Britta; Hüning, Irina; Iascone, Maria; Isidor, Bertrand; Järvelä, Irma; Jin, Jay J; Jorge, Alexander A L; Josifova, Dragana; Kalinauskiene, Ruta; Kamsteeg, Erik-Jan; Keren, Boris; Kessler, Elena; Kölbel, Heike; Kozenko, Mariya; Kubisch, Christian; Kuechler, Alma; Leal, Suzanne M; Leppälä, Juha; Luu, Sharon M; Lyon, Gholson J; Madan-Khetarpal, Suneeta; Mancardi, Margherita; Marchi, Elaine; Mehta, Lakshmi; Menendez, Beatriz; Morel, Chantal F; Harasink, Sue Moyer; Nevay, Dayna-Lynn; Nigro, Vincenzo; Odent, Sylvie; Oegema, Renske; Pappas, John; Pastore, Matthew T; Perilla-Young, Yezmin; Platzer, Konrad; Powell-Hamilton, Nina; Rabin, Rachel; Rekab, Aisha; Rezende, Raissa C; Robert, Leema; Romano, Ferruccio; Scala, Marcello; Poths, Karin; Schrauwen, Isabelle; Sebastian, Jessica; Short, John; Sidlow, Richard; Sullivan, Jennifer; Szakszon, Katalin; Tan, Queenie K G; ,; Wagner, Matias; Wieczorek, Dagmar; Yuan, Bo; Maeding, Nicole; Strunk, Dirk; Begtrup, Amber; Banka, Siddharth; Lupski, James R; Tolosa, Eva; Lessel, Davor

American journal of human genetics. 2025 Feb 06; 112:394-413

Upregulation vs. loss of function of NTRK2 in 44 affected individuals leads to two distinct neurodevelopmental disorders

Berger, Eva; Jauss, Robin-Tobias; Ranells, Judith D; Zonic, Emir; von Wintzingerode, Lydia; Wilson, Ashley; Wagner, Johannes; Tuttle, Annabelle; Thomas-Wilson, Amanda; Schulte, Björn; Rabin, Rachel; Pappas, John; Odgis, Jacqueline A; Muthaffar, Osama; Mendez-Fadol, Alejandra; Lynch, Matthew; Levy, Jonathan; Lehalle, Daphné; Lake, Nicole J; Krey, Ilona; Kozenko, Mariya; Knierim, Ellen; Jouret, Guillaume; Jobanputra, Vaidehi; Isidor, Bertrand; Hunt, David; Hsieh, Tzung-Chien; Holtz, Alexander M; Haack, Tobias B; Gold, Nina B; Dunstheimer, Désirée; Donge, Mylène; Deb, Wallid; De La Rosa Poueriet, Katlin A; Danyel, Magdalena; Christodoulou, John; Chopra, Saurabh; Callewaert, Bert; Busche, Andreas; Brick, Lauren; Bigay, Bary G; Arlt, Marie; Anikar, Swathi S; Almohammal, Mohammad N; Almanza, Deanna; Alhashem, Amal; Bertoli-Avella, Aida; Sticht, Heinrich; Jamra, Rami Abou

Genetics in medicine. 2024 Nov 11; 101326

Evaluation of the Stronger Together Peer Mentoring Model Among Patients With Breast and Gynecologic Cancer in Viet Nam

Le, PhuongThao D; Taylor, Carolyn; Do, Mai T; Monahan, Rachel; Lee, Sang; Sigireddi, Meenakshi; Wang, Cong; Cabanes, Anna; Ginsburg, Ophira; Tran, Thanh Huong T

JCO global oncology. 2024 Nov ; 10:e2400031

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, Lukáš; 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. 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

Clinical features and genotype-phenotype correlations in epilepsy patients with de novo DYNC1H1 variants

Cuccurullo, Claudia; Cerulli Irelli, Emanuele; Ugga, Lorenzo; Riva, Antonella; D'Amico, Alessandra; Cabet, Sara; Lesca, Gaetan; Bilo, Leonilda; Zara, Federico; Iliescu, Catrinel; Barca, Diana; Fung, France; Helbig, Katherine; Ortiz-Gonzalez, Xilma; Schelhaas, Helenius J; Willemsen, Marjolein H; van der Linden, Inge; Canafoglia, Laura; Courage, Carolina; Gommaraschi, Samuele; Gonzalez-Alegre, Pedro; Bardakjian, Tanya; Syrbe, Steffen; Schuler, Elisabeth; Lemke, Johannes R; Vari, Stella; Roende, Gitte; Bak, Mads; Huq, Mahbulul; Powis, Zoe; Johannesen, Katrine M; Hammer, Trine Bjørg; Møller, Rikke S; Rabin, Rachel; Pappas, John; Zupanc, Mary L; Zadeh, Neda; Cohen, Julie; Naidu, Sakkubai; Krey, Ilona; Saneto, Russell; Thies, Jenny; Licchetta, Laura; Tinuper, Paolo; Bisulli, Francesca; Minardi, Raffaella; Bayat, Allan; Villeneuve, Nathalie; Molinari, Florence; Salimi Dafsari, Hormos; Moller, Birk; Le Roux, Marie; Houdayer, Clara; Vecchi, Marilena; Mammi, Isabella; Fiorini, Elena; Proietti, Jacopo; Ferri, Sofia; Cantalupo, Gaetano; Battaglia, Domenica Immacolata; Gambardella, Maria Luigia; Contaldo, Ilaria; Brogna, Claudia; Trivisano, Marina; De Dominicis, Angela; Bova, Stefania Maria; Gardella, Elena; Striano, Pasquale; Coppola, Antonietta

Epilepsia. 2024 Sep ; 65:2728-2750