De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms von Weiss, Karin, Terhal, Paulien A., Cohen, Lior, Bruccoleri, Michael, Irving, Melita, Martinez, Ariel F., Rosenfeld, Jill A., Machol, Keren, Yang, Yaping, Liu, Pengfei, Walkiewicz, Magdalena, Beuten, Joke, Gomez-Ospina, Natalia, Haude, Katrina, Fong, Chin-To, Enns, Gregory M., Bernstein, Jonathan A., Fan, Judith, Gotway, Garrett, Ghorbani, Mohammad, van Gassen, Koen, Monroe, Glen R., van Haaften, Gijs, Basel-Vanagaite, Lina, Yang, Xiang-Jiao, Campeau, Philippe M., Muenke, Maximilian

Volltext

Biallelic variants in KYNU cause a multisystemic syndrome with hand hyperphalangism von Ehmke, Nadja, Cusmano-Ozog, Kristina, Koenig, Rainer, Holtgrewe, Manuel, Nur, Banu, Mihci, Ercan, Babcock, Holly, Gonzaga-Jauregui, Claudia, Overton, John D., Xiao, Jing, Martinez, Ariel F., Muenke, Maximilian, Balzer, Alexander, Jochim, Judith, El Choubassi, Naji, Fischer-Zirnsak, Björn, Huber, Céline, Kornak, Uwe, Elsea, Sarah H., Cormier-Daire, Valérie, Ferreira, Carlos R.

Volltext

ADGRL3 (LPHN3) variants predict substance use disorder von Arcos-Burgos, Mauricio, Vélez, Jorge I., Martinez, Ariel F., Ribasés, Marta, Ramos-Quiroga, Josep A., Sánchez-Mora, Cristina, Richarte, Vanesa, Roncero, Carlos, Cormand, Bru, Fernández-Castillo, Noelia, Casas, Miguel, Lopera, Francisco, Pineda, David A., Palacio, Juan D., Acosta-López, Johan E., Cervantes-Henriquez, Martha L., Sánchez-Rojas, Manuel G., Puentes-Rozo, Pedro J., Molina, Brooke S. G., Boden, Margaret T., Wallis, Deeann, Lidbury, Brett, Newman, Saul, Easteal, Simon, Swanson, James, Patel, Hardip, Volkow, Nora, Acosta, Maria T., Castellanos, Francisco X., de Leon, Jose, Mastronardi, Claudio A., Muenke, Maximilian

Volltext

Clinical and Demographic Evaluation of a Holoprosencephaly Cohort From the Kyoto Collection of Human Embryos von Abe, Yu, Kruszka, Paul, Martinez, Ariel F., Roessler, Erich, Shiota, Kohei, Yamada, Shigehito, Muenke, Maximilian

Volltext

Generation of human induced pluripotent stem cell line (NIDCRi001-A) from a Muenke syndrome patient with an FGFR3 p.Pro250Arg mutation von Mui, Byron W.H., Arora, Deepika, Mallon, Barbara S., Martinez, Ariel F., Lee, Janice S., Muenke, Maximilian, Kruszka, Paul, Kidwai, Fahad K., Robey, Pamela G.

Volltext

SIX3 deletions and incomplete penetrance in families affected by holoprosencephaly von Stokes, Bethany, Berger, Seth I., Hall, Beth A., Weiss, Karin, Martinez, Ariel F., Hadley, Donald W., Murdock, David R., Ramanathan, Subhadra, Clark, Robin D., Roessler, Erich, Kruszka, Paul, Muenke, Maximilian

Volltext

Low-level parental mosaicism affects the recurrence risk of holoprosencephaly von Hu, Ping, Martinez, Ariel F., Kruszka, Paul, Berger, Seth, Roessler, Erich, Muenke, Maximilian

Volltext

A CCR4-NOT Transcription Complex, Subunit 1, CNOT1, Variant Associated with Holoprosencephaly von Kruszka, Paul, Berger, Seth I., Weiss, Karin, Everson, Joshua L., Martinez, Ariel F., Hong, Sungkook, Anyane-Yeboa, Kwame, Lipinski, Robert J., Muenke, Maximilian

Volltext

An Ultraconserved Brain-Specific Enhancer Within ADGRL3 (LPHN3) Underpins Attention-Deficit/Hyperactivity Disorder Susceptibility von Martinez, Ariel F, Abe, Yu, Hong, Sungkook, Molyneux, Kevin, Yarnell, David, Löhr, Heiko, Driever, Wolfgang, Acosta, Maria T, Arcos-Burgos, Mauricio, Muenke, Maximilian

Volltext

Novel heterozygous variants in KMT2D associated with holoprosencephaly von Tekendo‐Ngongang, Cedrik, Kruszka, Paul, Martinez, Ariel F., Muenke, Maximilian

Volltext

Cohesin complex-associated holoprosencephaly von Kruszka, Paul, Berger, Seth I, Casa, Valentina, Dekker, Mike R, Gaesser, Jenna, Weiss, Karin, Martinez, Ariel F, Murdock, David R, Louie, Raymond J, Prijoles, Eloise J, Lichty, Angie W, Brouwer, Oebele F, Zonneveld-Huijssoon, Evelien, Stephan, Mark J, Hogue, Jacob, Hu, Ping, Tanima-Nagai, Momoko, Everson, Joshua L, Prasad, Chitra, Cereda, Anna, Iascone, Maria, Schreiber, Allison, Zurcher, Vickie, Corsten-Janssen, Nicole, Escobar, Luis, Clegg, Nancy J, Delgado, Mauricio R, Hajirnis, Omkar, Balasubramanian, Meena, Kayserili, Hülya, Deardorff, Matthew, Poot, Raymond A, Wendt, Kerstin S, Lipinski, Robert J, Muenke, Maximilian

Volltext

AP-1 stimulates the cathepsin K promoter in RAW 264.7 cells von Pang, Manhui, Martinez, Ariel F., Fernandez, Isabel, Balkan, Wayne, Troen, Bruce R.

Volltext

Neural Plasticity in Obesity and Psychiatric Disorders von Arcos-Burgos, Mauricio, Acosta, Maria T., Martinez, Ariel F., Muenke, Maximilian, Enriori, Pablo J., Mastronardi, Claudio A.

Volltext

Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations von Hughes, Joel J., Alkhunaizi, Ebba, Kruszka, Paul, Pyle, Louise C., Grange, Dorothy K., Berger, Seth I., Payne, Katelyn K., Masser-Frye, Diane, Hu, Tommy, Christie, Michelle R., Clegg, Nancy J., Everson, Joshua L., Martinez, Ariel F., Walsh, Laurence E., Bedoukian, Emma, Jones, Marilyn C., Harris, Catharine Jean, Riedhammer, Korbinian M., Choukair, Daniela, Fechner, Patricia Y., Rutter, Meilan M., Hufnagel, Sophia B., Roifman, Maian, Kletter, Gad B., Delot, Emmanuele, Vilain, Eric, Lipinski, Robert J., Vezina, Chad M., Muenke, Maximilian, Chitayat, David

Volltext

Craniosynostosis and Noonan syndrome with KRAS mutations: Expanding the phenotype with a case report and review of the literature von Addissie, Yonit A., Kotecha, Udhaya, Hart, Rachel A., Martinez, Ariel F., Kruszka, Paul, Muenke, Maximilian

Volltext

Machine Learning Prediction of ADHD Severity: Association and Linkage to ADGRL3, DRD4, and SNAP25 von Cervantes-Henríquez, Martha L., Acosta-López, Johan E., Martinez, Ariel F., Arcos-Burgos, Mauricio, Puentes-Rozo, Pedro J., Vélez, Jorge I.

Volltext

Human Germline Hedgehog Pathway Mutations Predispose to Fatty Liver von Sacoto, Maria J. Guillen, Martinez, Ariel F, Abe, Yu, Kruszka, Paul, Weiss, Karin, Everson, Joshua L, Bataller, Ramon, Kleiner, David E, Ward, Jerrold M, Sulik, Kathleen K, Lipinski, Robert J, Solomon, Benjamin D, Muenke, Maximilian

Volltext

Analysis of renal anomalies in VACTERL association von Cunningham, Bridget K., Khromykh, Alina, Martinez, Ariel F., Carney, Tyler, Hadley, Donald W., Solomon, Benjamin D.

Volltext

Identification of a novel PCNT founder pathogenic variant in the Israeli Druze population von Weiss, Karin, Ekhilevitch, Nina, Cohen, Lior, Bratman-Morag, Sharon, Bello, Rachel, Martinez, Ariel F., Hadid, Yarin, Shlush, Liran I., Kurolap, Alina, Paperna, Tamar, Mory, Adi, Baris, Hagit N., Muenke, Maximilian

Volltext

From the black widow spider to human behavior: Latrophilins, a relatively unknown class of G protein-coupled receptors, are implicated in psychiatric disorders von Martinez, Ariel F., Muenke, Maximilian, Arcos-Burgos, Mauricio

Volltext