Molecular Testing in Holoprosencephaly

Tekijä Kruszka, Paul, Martinez, Ariel F., Muenke, Maximilian
Julkaisussa Am J Med Genet C Semin Med Genet (2018)

Extracephalic manifestations of nonchromosomal, nonsyndromic holoprosencephaly

Tekijä Martinez, Ariel F., Kruszka, Paul S., Muenke, Maximilian
Julkaisussa 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

Tekijä Martinez, Ariel F., Muenke, Maximilian, Arcos-Burgos, Mauricio
Julkaistu 2010

Novel Heterozygous Variants in KMT2D Associated with Holoprosencephaly

Tekijä Tekendo-Ngongang, Cedrik, Kruszka, Paul, Martinez, Ariel F, Muenke, Maximilian
Julkaisussa Clin Genet (2019)

Analysis of Renal Anomalies in VACTERL Association

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

Neural Plasticity in Obesity and Psychiatric Disorders

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

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

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

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

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

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

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

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

Tekijä 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
Julkaisussa Am J Med Genet C Semin Med Genet (2018)

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

Tekijä 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
Julkaistu 2012

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

Tekijä 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
Julkaisussa Mol Genet Genomic Med (2015)

Human Germline Hedgehog Pathway Mutations Predispose to Fatty Liver

Tekijä 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
Julkaisussa J Hepatol (2017)

Mutations in sphingolipid metabolism genes are associated with ADHD

Tekijä 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
Julkaisussa Transl Psychiatry (2020)

Exome Sequencing and Congenital Heart Disease in Sub-Saharan Africa

Tekijä 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
Julkaisussa Circ Genom Precis Med (2021)

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

Tekijä 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
Julkaistu 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

Tekijä 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
Julkaisussa J Med Genet (2014)

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

Tekijä 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
Julkaisussa Am J Hum Genet (2016)

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

Tekijä 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
Julkaisussa Am J Hum Genet (2020)

ADGRL3 (LPHN3) variants predict substance use disorder

Tekijä 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
Julkaisussa Transl Psychiatry (2019)