A Novel Mutation Causing Pseudohypoparathyroidism 1A with Congenital Hypothyroidism and Osteoma Cutis

por Lubell, Tamar, Garzon, Maria, Anyane−Yeboa, Kwame, Shah, Bina
Publicado 2009

Rare inheritance of Leri-Weill Syndrome due to crossover of short stature Homeobox Gene (SHOX) Deletions between X and Y Chromosomes: a case report

por Censani, Marisa, Anyane-Yeboa, Kwame, Wapner, Ronald, Spiegel, Erica, Guzman, Edwin, Oberfield, Sharon E
Publicado 2013

3q27.1 microdeletion causes prenatal and postnatal growth restriction and neurodevelopmental abnormalities

por Barua, Subit, Pereira, Elaine M., Jobanputra, Vaidehi, Anyane-Yeboa, Kwame, Levy, Brynn, Liao, Jun
Publicado 2022

Homozygous noncanonical splice variant in LSM1 in two siblings with multiple congenital anomalies and global developmental delay

por Okur, Volkan, LeDuc, Charles A., Guzman, Edwin, Valivullah, Zaheer M., Anyane-Yeboa, Kwame, Chung, Wendy K.
Publicado 2019

Presumptive Diagnosis of Pallister-Hall Syndrome Using Magnetic Resonance Imaging

por Mehkri, Yusuf, Surapaneni, Krishna, Tarhan, Bedirhan, Eisenbach, Tiffany, Bilgili, Ahmet, Tuna, Ibrahim S, Shuhaiber, Hans H, Anyane-Yeboa, Kwame
Publicado 2022

Retinoblastoma Presenting in a Child with Hypomelanosis of Ito

por El-Sawy, Tarek, He, Lingmin, Chiang, Michael F, Anyane-Yeboa, Kwame, Morel, Kimberly D, Folberg, Robert, Marr, Brian P, Abramson, David
Publicado 2011

New Diagnosis of Atypical Ataxia-Telangiectasia in a 17-Year-Old Boy with T-Cell Acute Lymphoblastic Leukemia and a Novel ATM mutation

por Roohi, Jasmin, Crowe, Jennifer, Loredan, Denis, Anyane-Yeboa, Kwame, Mansukhani, Mahesh M., Omesi, Lenore, Levine, Jennifer, Politi, Anya Revah, Zha, Shan
Publicado 2017

De novo mutations in PURA are associated with hypotonia and developmental delay

por Tanaka, Akemi J., Bai, Renkui, Cho, Megan T., Anyane-Yeboa, Kwame, Ahimaz, Priyanka, Wilson, Ashley L., Kendall, Fran, Hay, Beverly, Moss, Timothy, Nardini, Monica, Bauer, Mislen, Retterer, Kyle, Juusola, Jane, Chung, Wendy K.
Publicado 2015

CM-AVM syndrome in a neonate: case report and treatment with a novel flow reduction strategy

por Behr, Gerald G, Liberman, Leonardo, Compton, Jocelyn, Garzon, Maria C, Morel, Kimberly D, Lauren, Christine T, Starc, Thomas J, Kovacs, Stephen J, Beltroni, Vincent, Landres, Rachel, Anyane-Yeboa, Kwame, Meyers, Philip M, Bacha, Emile, Kandel, Jessica J
Publicado 2012

Clinical Real-Time Genome Sequencing to Solve the Complex and Confounded Presentation of a Child With Focal Segmental Glomerulosclerosis and Multiple Malignancies

por Jain, Namrata G., Ahram, Dina F., Marasa, Maddalena, Rehman, Ateeq U., May, Halie J., Zacharoulis, Stergios, Revah-Politi, Anya, Florido, Michelle E., Whittemore, Gregory B., Aggarwal, Vimla S., Hargus, Gunnar, Anyane-Yeboa, Kwame, D’Agati, Vivette D., Lin, Fangming, Jobanputra, Vaidehi, Sanna-Cherchi, Simone
Publicado 2022

Mutations in the Cholesterol Transporter Gene ABCA5 Are Associated with Excessive Hair Overgrowth

por DeStefano, Gina M., Kurban, Mazen, Anyane-Yeboa, Kwame, Dall'Armi, Claudia, Di Paolo, Gilbert, Feenstra, Heather, Silverberg, Nanette, Rohena, Luis, López-Cepeda, Larissa D., Jobanputra, Vaidehi, Fantauzzo, Katherine A., Kiuru, Maija, Tadin-Strapps, Marija, Sobrino, Antonio, Vitebsky, Anna, Warburton, Dorothy, Levy, Brynn, Salas-Alanis, Julio C., Christiano, Angela M.
Publicado 2014

Bi‐allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease

por Cappuccio, Gerarda, Ceccatelli Berti, Camilla, Baruffini, Enrico, Sullivan, Jennifer, Shashi, Vandana, Jewett, Tamison, Stamper, Tara, Maitz, Silvia, Canonico, Francesco, Revah‐Politi, Anya, Kupchik, Gabriel S., Anyane‐Yeboa, Kwame, Aggarwal, Vimla, Benneche, Andreas, Bratland, Eirik, Berland, Siren, D'Arco, Felice, Alves, Cesar A., Vanderver, Adeline, Longo, Daniela, Bertini, Enrico, Torella, Annalaura, Nigro, Vincenzo, D'Amico, Alessandra, van der Knaap, Marjo S., Goffrini, Paola, Brunetti‐Pierri, Nicola
Publicado 2021

Activating RAC1 variants in the switch II region cause a developmental syndrome and alter neuronal morphology

por Banka, Siddharth, Bennington, Abigail, Baker, Martin J, Rijckmans, Ellen, Clemente, Giuliana D, Ansor, Nurhuda Mohamad, Sito, Hilary, Prasad, Pritha, Anyane-Yeboa, Kwame, Badalato, Lauren, Dimitrov, Boyan, Fitzpatrick, David, Hurst, Anna C E, Jansen, Anna C, Kelly, Melissa A, Krantz, Ian, Rieubland, Claudine, Ross, Meredith, Rudy, Natasha L, Sanz, Javier, Stouffs, Katrien, Xu, Zhuo Luan, Malliri, Angeliki, Kazanietz, Marcelo G, Millard, Tom H
Publicado 2022

COVID-19’s Impact on Genetics at One Medical Center in New York

por Pereira, Elaine M., Ahimaz, Priyanka, Andrews, Carli, Anyane-Yeboa, Kwame, Arsov, Todor, Berger, Sara M., Chilton, Ilana, Cory, Diana M., Chung, Wendy K., Dergham, Katia R., Disco, Michele M., Ernst, Michelle E., Forman, Tamar, Galloway, Stephanie, Geltzeiler, Alexa R., Giordano, Jessica L., Griffin, Emily, Guzman, Edwin, Harkavy, Nina, Hernan, Rebecca, Hetzler, Anah K., Iglesias, Alejandro, Kakar, Rupinder, Kentros, Catherine, Khonje, Thandiwe C., Koval, Carrie, Levinson, Elana, Pereira, Elaine M., Robinson, Scott, Ross, Meredith J., Sadeque-Iqbal, Fatema, Spiegel, Erica, Spitz, Elana, Wapner, Ronald J., Chung, Wendy K.
Publicado 2020

Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature

por van Jaarsveld, Richard H., Reilly, Jack, Cornips, Marie-Claire, Hadders, Michael A., Agolini, Emanuele, Ahimaz, Priyanka, Anyane-Yeboa, Kwame, Audebert Bellanger, Severine, van Binsbergen, Ellen, van den Boogaard, Marie-Jose, Brischoux-Boucher, Elise, Caylor, Raymond C., Ciolfi, Andrea, van Essen, Ton A.J., Fontana, Paolo, Hopman, Saskia, Iascone, Maria, Javier, Margaret M., Kamsteeg, Erik-Jan, Kerkhof, Jennifer, Kido, Jun, Kim, Hyung-Goo, Kleefstra, Tjitske, Lonardo, Fortunato, Lai, Abbe, Lev, Dorit, Levy, Michael A., Lewis, M.E. Suzanne, Lichty, Angie, Mannens, Marcel M.A.M., Matsumoto, Naomichi, Maya, Idit, McConkey, Haley, Megarbane, Andre, Michaud, Vincent, Miele, Evelina, Niceta, Marcello, Novelli, Antonio, Onesimo, Roberta, Pfundt, Rolph, Popp, Bernt, Prijoles, Eloise, Relator, Raissa, Redon, Sylvia, Rots, Dmitrijs, Rouault, Karen, Saida, Ken, Schieving, Jolanda, Tartaglia, Marco, Tenconi, Romano, Uguen, Kevin, Verbeek, Nienke, Walsh, Christopher A., Yosovich, Keren, Yuskaitis, Christopher J., Zampino, Giuseppe, Sadikovic, Bekim, Alders, Mariëlle, Oegema, Renske
Publicado 2022