Molecular Testing in Holoprosencephaly

av Kruszka, Paul, Martinez, Ariel F., Muenke, Maximilian
I publikationen Am J Med Genet C Semin Med Genet (2018)

Extracephalic manifestations of nonchromosomal, nonsyndromic holoprosencephaly

av Martinez, Ariel F., Kruszka, Paul S., Muenke, Maximilian
I publikationen 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

av Martinez, Ariel F., Muenke, Maximilian, Arcos-Burgos, Mauricio
Publicerad 2010

Novel Heterozygous Variants in KMT2D Associated with Holoprosencephaly

av Tekendo-Ngongang, Cedrik, Kruszka, Paul, Martinez, Ariel F, Muenke, Maximilian
I publikationen Clin Genet (2019)

Analysis of Renal Anomalies in VACTERL Association

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

Neural Plasticity in Obesity and Psychiatric Disorders

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

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

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

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

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

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

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

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

av 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
I publikationen Am J Med Genet C Semin Med Genet (2018)

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

av 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
Publicerad 2012

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

av 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
I publikationen Mol Genet Genomic Med (2015)

Human Germline Hedgehog Pathway Mutations Predispose to Fatty Liver

av 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
I publikationen J Hepatol (2017)

Mutations in sphingolipid metabolism genes are associated with ADHD

av 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
I publikationen Transl Psychiatry (2020)

Exome Sequencing and Congenital Heart Disease in Sub-Saharan Africa

av 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
I publikationen Circ Genom Precis Med (2021)

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

av 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
Publicerad 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

av 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
I publikationen J Med Genet (2014)

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

av 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
I publikationen Am J Hum Genet (2016)

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

av 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
I publikationen Am J Hum Genet (2020)

ADGRL3 (LPHN3) variants predict substance use disorder

av 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
I publikationen Transl Psychiatry (2019)