Skip to main content
Gholson J. Lyon on Muck Rack

Gholson J. Lyon

New York
As seen in: Nature, Wiley Online Library, Genome Medicine, BioRxiv, Cell Press, The American Journal of Human Genetics
physician-scientist; rare diseases; psychiatrist, Institute for Basic Research in Developmental Disabilities, professor at CUNY, professor at Roseman University
Is this you? As a journalist, you can create a free Muck Rack account to customize your profile, list your contact preferences, and upload a portfolio of your best work. Claim your profile

Get in touch with Gholson J.

Contact Gholson J., search articles and posts on X, monitor coverage, and track replies from one place.

Learn more about Muck Rack

Actions

Share this page

Is this you?

As a journalist, you can create a free Muck Rack account to customize your profile, list your contact preferences, and upload a portfolio of your best work.
Claim your profile

Articles

Pathogenic variants in the cohesin loader subunit MAU2 underlie a distinct Cornelia de Lange Syndrome subtype

|
By Ilaria Parenti, Laura Duffy, Jasmin Beygo, Jennifer Kerkhof, Elsa Leitão, Philip M. Boone, Hesham M Aldhalaan, Fowzan S. Alkuraya, Stylianos E. Antonarakis, Donald Basel, Kévin Cassinari, Amanda R. Clause, Stephan C. Collins, Parul Jayakar, Arif O. Khan, Kohji Kato, Gholson J. Lyon, Elaine Marchi, Julie McCarrier, Seiji Mizuno, Gaël Nicolas, Yosuke Nishio, Tomoo Ogi, Feliciano Ramos, Emmanuelle Ranza, Claire E. Redin, Eric Rush, Shinji Saitoh, Hanan E. Shamseldin, Susan Starling, Esteban Astiazaran-Symonds, Alma Kuechler, Bekim Sadikovic, Binnaz Yalcin, Kerstin Wendt, Frank Kaiser, Alina Hesters, Marta Gil-Salvador, Deniz Kanber, Laura Steenpaß, Julia Woestefeld, Emeline M. Kao, Muneera J. Alshammari, Laurana de Polli Cellin, Andréa de Castro Leal, Benjamin Durand, Juliane Eckhold, Mais O. Hashem, Regina Kubica, Lara K. Kimmig, Juan Pié, Jordyn Prell, Beatriz Puisac, Sara H. Eltahir
| Nature Verified
Abstract The role of the cohesin complex depends on the cohesin loader proteins NIPBL and MAU2. While NIPBL variants are a major cause of Cornelia de Lange Syndrome (CdLS), the role of MAU2 in disease is unclear. We describe 18 individuals carrying 15 heterozygous MAU2 variants and demonstrate pathogenicity through functional analyses. In-frame MAU2 variants predominantly impair NIPBL–MAU2 interaction, whereas truncating variants cause MAU2 haploinsufficiency and lead to NIPBL reduction.
Open in Who Shared Issue with article?

Functional Data Strengthen Clinical Validation of PhenoScore Phenotype-Guided AI for ANKRD11 Missense Variants

|
By Evi Andriessen, Elke de Boer, Gholson J. Lyon
| Wiley Online Library Verified
1 Introduction KBG syndrome (KBGS, OMIM #148050) is a rare genetic disorder characterized by a range of physical, neurodevelopmental, and intellectual challenges, which manifest through various clinical features. Key clinical features include macrodontia of the permanent upper central incisors, craniofacial dysmorphic features such as prominent eyebrows and ears, a broad nasal tip, anteverted nares and a long philtrum.
Open in Who Shared Issue with article?

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

|
By Ivan K. Chinn, Jonathan May, Anu Goenka, Kate Chandler, Jennifer E. Posey, Alexandra Afenjar, Luisa Averdunk, Maria Francesca Bedeschi, Thomas Besnard, Melanie Brugger, Theresa Brunet, Susan Byrne, Valeria Capra, Paúl Cárdenas, Celine Chappe, Hey J. Chong, Benjamin Cogné, Erin Conboy, Heidi Cope, Thomas Courtin, Wallid Deb, Robertino Dilena, Christèle Dubourg, Magdeldin Elgizouli, Erica Fernandes, Kristi Fitzgerald, Silvana Gangi, Muge Gucsavas-Calikoglu, Tobias B. Haack, Maria Iascone, Bertrand Isidor, Jay J. Jin, Dragana Josifova, Ruta Kalinauskiene, Erik-Jan Kamsteeg, Boris Keren, Heike Kölbel, Christian Kubisch, Suzanne Leal, Gholson J. Lyon, Suneeta Madan-Khetarpal, Elaine Marchi, Beatriz Menéndez, Vincenzo Nigro, Sylvie Odent, Renske Oegema, John Pappas, Konrad Platzer, Rachel A. Rabin, Aisha Rekab, Ferruccio Romano, Isabelle Schrauwen, John Short Verified, Richard Sidlow, Jennifer Sullivan, Katalin Szakszon, Queenie Tan, Matias Wagner, Dagmar Wieczorek, Bo Yuan, Nicole Maeding, Dirk Strunk, Amber Begtrup, Siddharth Banka, James R. Lupski, Eva Tolosa, Davor Lessel, Ivana Lessel, Anja Baresic, Rae Brager, Lauren Brick, Jaya K. George-Abraham, Medard Hadonou, Britta Hanker, Irina Hüning, Irma Järvelä, Alexander A.L. Jorge, Elena Kessler, Mariya Kozenko, Alma Kuechler, Juha Leppälä, Sharon M. Luu, Margherita Mancardi, Lakshmi Mehta, Chantal F. Morel, Sue Moyer Harasink, Dayna-Lynn Nevay, Matthew T. Pastore, Yezmin Perilla-Young, Nina Powell-Hamilton, Raissa C. Rezende, Leema Robert, Karin Poths, Jessica Sebastian
| The American Journal of Human Genetics Verified
Keywords BCL11B C2H2-type zinc finger protein recognition code genotype-phenotype correlation type 2 innate lymphoid cells Introduction Proteins containing a Cys2-His2 zinc-finger domain (C2H2-ZnF) constitute the largest class of human transcription factors.1 They act by either repressing or activating the expression of target genes through binding a specific DNA sequence by their tandem and modular C2H2-ZnFs. Each C2H2-ZnF shares a consensus sequence that folds in the presence of zinc (Zn2+)...
Open in Who Shared Issue with article?
See all 11 articles