Molecular Testing in Holoprosencephaly

di Kruszka, Paul, Martinez, Ariel F., Muenke, Maximilian
Pubblicato in Am J Med Genet C Semin Med Genet (2018)

Extracephalic manifestations of nonchromosomal, nonsyndromic holoprosencephaly

di Martinez, Ariel F., Kruszka, Paul S., Muenke, Maximilian
Pubblicato in Am J Med Genet C Semin Med Genet (2018)

From the Black Widow Spider to Human Behavior: Latrophilins, a Relatively Unknown Class of G Protein-Coupled Receptors, Are Implicated in Psychiatric Disorders

di Martinez, Ariel F., Muenke, Maximilian, Arcos-Burgos, Mauricio
Pubblicazione 2010

Novel Heterozygous Variants in KMT2D Associated with Holoprosencephaly

di Tekendo-Ngongang, Cedrik, Kruszka, Paul, Martinez, Ariel F, Muenke, Maximilian
Pubblicato in Clin Genet (2019)

Analysis of Renal Anomalies in VACTERL Association

di Cunningham, Bridget K., Khromykh, Alina, Martinez, Ariel F., Carney, Tyler, Hadley, Donald W., Solomon, Benjamin D.
Pubblicazione 2014

Neural Plasticity in Obesity and Psychiatric Disorders

di Arcos-Burgos, Mauricio, Acosta, Maria T., Martinez, Ariel F., Muenke, Maximilian, Enriori, Pablo J., Mastronardi, Claudio A.
Pubblicato in Neural Plast (2016)

ADGRL3 (LPHN3) variants are associated with a refined phenotype of ADHD in the MTA study

di Acosta, Maria T., Swanson, James, Stehli, Annamarie, Molina, Brooke S. G., Martinez, Ariel F., Arcos‐Burgos, Mauricio, Muenke, Maximilian
Pubblicato in Mol Genet Genomic Med (2016)

An Ultraconserved Brain-specific Enhancer within ADGRL3 (LPHN3) Underpins ADHD Susceptibility

di Martinez, Ariel F., Abe, Yu, Hong, Sungkook, Molyneux, Kevin, Yarnell, David, Löhr, Heiko, Driever, Wolfgang, Acosta, Maria T., Arcos-Burgos, Mauricio, Muenke, Maximilian
Pubblicato in Biol Psychiatry (2016)

A CCR4-NOT Transcription Complex, Subunit 1, CNOT1, Variant Associated with Holoprosencephaly

di Kruszka, Paul, Berger, Seth I., Weiss, Karin, Everson, Joshua L., Martinez, Ariel F., Hong, Sungkook, Anyane-Yeboa, Kwame, Lipinski, Robert J., Muenke, Maximilian
Pubblicato in Am J Hum Genet (2019)

Cytogenetics and Holoprosencephaly: A Chromosomal Microarray Study of 222 Individuals with Holoprosencephaly

di Hu, Tommy, Kruszka, Paul, Martinez, Ariel F., Ming, Jeffrey E., Shabason, Emily K., Raam, Manu S., Shaikh, Tamim H., Pineda-Alvarez, Daniel E., Muenke, Maximilian
Pubblicato in Am J Med Genet C Semin Med Genet (2018)

GWAS reveals new recessive loci associated with non-syndromic facial clefting

di Camargo, Mauricio, Rivera, Dora, Moreno, Lina, Lidral, Andrew C., Harper, Ursula, Jones, Marypat, Solomon, Benjamin D., Roessler, Erich, Vélez, Jorge I., Martinez, Ariel F., Chandrasekharappa, Settara C., Arcos-Burgos, Mauricio
Pubblicazione 2012

Limb body wall complex, amniotic band sequence, or new syndrome caused by mutation in IQ Motif containing K (IQCK)?

di Kruszka, Paul, Uwineza, Annette, Mutesa, Leon, Martinez, Ariel F, Abe, Yu, Zackai, Elaine H, Ganetzky, Rebecca, Chung, Brian, Stevenson, Roger E, Adelstein, Robert S, Ma, Xuefei, Mullikin, James C, Hong, Sung-Kook, Muenke, Maximilian
Pubblicato in Mol Genet Genomic Med (2015)

Human Germline Hedgehog Pathway Mutations Predispose to Fatty Liver

di Guillen Sacoto, Maria J., 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
Pubblicato in J Hepatol (2017)

Mutations in sphingolipid metabolism genes are associated with ADHD

di Henriquez-Henriquez, Marcela, Acosta, Maria T., Martinez, Ariel F., Vélez, Jorge I., Lopera, Francisco, Pineda, David, Palacio, Juan D., Quiroga, Teresa, Worgall, Tilla S., Deckelbaum, Richard J., Mastronardi, Claudio, Molina, Brooke S. G., Arcos-Burgos, Mauricio, Muenke, Maximilian
Pubblicato in Transl Psychiatry (2020)

Exome Sequencing and Congenital Heart Disease in Sub-Saharan Africa

di Ekure, Ekanem N., Adeyemo, Adebowale, Liu, Hanhan, Sokunbi, Ogochukwu, Kalu, Nnenna, Martinez, Ariel F., Owosela, Babajide, Tekendo-Ngongang, Cedrik, Addissie, Yonit A., Olusegun-Joseph, Akinsanya, Ikebudu, Desmond, Berger, Seth I., Muenke, Maximilian, Han, Zhe, Kruszka, Paul
Pubblicato in Circ Genom Precis Med (2021)

Potential cognitive endophenotypes in multigenerational families: segregating ADHD from a genetic isolate

di Pineda, David A., Lopera, Francisco, Puerta, Isabel C., Trujillo-Orrego, Natalia, Aguirre-Acevedo, Daniel C., Hincapié-Henao, Liliana, Arango, Clara P., Acosta, Maria T., Holzinger, Sandra I., Palacio, Juan David, Pineda-Alvarez, Daniel E., Velez, Jorge I., Martinez, Ariel F., Lewis, John E., Muenke, Maximilian, Arcos-Burgos, Mauricio
Pubblicazione 2011

Mutations in SPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome

di Kruszka, Paul, Li, Dong, Harr, Margaret H, Wilson, Nathan R, Swarr, Daniel, McCormick, Elizabeth M, Chiavacci, Rosetta M, Li, Mindy, Martinez, Ariel F, Hart, Rachel A, McDonald-McGinn, Donna M, Deardorff, Matthew A, Falk, Marni J, Allanson, Judith E, Hudson, Cindy, Johnson, John P, Saadi, Irfan, Hakonarson, Hakon, Muenke, Maximilian, Zackai, Elaine H
Pubblicato in J Med Genet (2014)

De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms

di 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
Pubblicato in Am J Hum Genet (2016)

Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations

di 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
Pubblicato in Am J Hum Genet (2020)

ADGRL3 (LPHN3) variants predict substance use disorder

di 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
Pubblicato in Transl Psychiatry (2019)