Molecular Testing in Holoprosencephaly

por Kruszka, Paul, Martinez, Ariel F., Muenke, Maximilian
Publicado en Am J Med Genet C Semin Med Genet (2018)

Extracephalic manifestations of nonchromosomal, nonsyndromic holoprosencephaly

por Martinez, Ariel F., Kruszka, Paul S., Muenke, Maximilian
Publicado en 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

por Martinez, Ariel F., Muenke, Maximilian, Arcos-Burgos, Mauricio
Publicado 2010

Novel Heterozygous Variants in KMT2D Associated with Holoprosencephaly

por Tekendo-Ngongang, Cedrik, Kruszka, Paul, Martinez, Ariel F, Muenke, Maximilian
Publicado en Clin Genet (2019)

Analysis of Renal Anomalies in VACTERL Association

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

Neural Plasticity in Obesity and Psychiatric Disorders

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

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

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

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

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

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

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

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

por 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
Publicado en Am J Med Genet C Semin Med Genet (2018)

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

por 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
Publicado 2012

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

por 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
Publicado en Mol Genet Genomic Med (2015)

Human Germline Hedgehog Pathway Mutations Predispose to Fatty Liver

por 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
Publicado en J Hepatol (2017)

Mutations in sphingolipid metabolism genes are associated with ADHD

por 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
Publicado en Transl Psychiatry (2020)

Exome Sequencing and Congenital Heart Disease in Sub-Saharan Africa

por 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
Publicado en Circ Genom Precis Med (2021)

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

por 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
Publicado 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

por 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
Publicado en J Med Genet (2014)

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

por 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
Publicado en Am J Hum Genet (2016)

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

por 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
Publicado en Am J Hum Genet (2020)

ADGRL3 (LPHN3) variants predict substance use disorder

por 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
Publicado en Transl Psychiatry (2019)