Molecular Testing in Holoprosencephaly

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

Extracephalic manifestations of nonchromosomal, nonsyndromic holoprosencephaly

অনুযায়ী Martinez, Ariel F., Kruszka, Paul S., Muenke, Maximilian
প্রকাশিত 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

অনুযায়ী Martinez, Ariel F., Muenke, Maximilian, Arcos-Burgos, Mauricio
প্রকাশিত 2010

Novel Heterozygous Variants in KMT2D Associated with Holoprosencephaly

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

Analysis of Renal Anomalies in VACTERL Association

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

Neural Plasticity in Obesity and Psychiatric Disorders

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

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

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

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

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

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

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

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

অনুযায়ী 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
প্রকাশিত Am J Med Genet C Semin Med Genet (2018)

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

অনুযায়ী 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
প্রকাশিত 2012

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

অনুযায়ী 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
প্রকাশিত Mol Genet Genomic Med (2015)

Human Germline Hedgehog Pathway Mutations Predispose to Fatty Liver

অনুযায়ী 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
প্রকাশিত J Hepatol (2017)

Mutations in sphingolipid metabolism genes are associated with ADHD

অনুযায়ী 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
প্রকাশিত Transl Psychiatry (2020)

Exome Sequencing and Congenital Heart Disease in Sub-Saharan Africa

অনুযায়ী 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
প্রকাশিত Circ Genom Precis Med (2021)

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

অনুযায়ী 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
প্রকাশিত 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

অনুযায়ী 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
প্রকাশিত J Med Genet (2014)

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

অনুযায়ী 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
প্রকাশিত Am J Hum Genet (2016)

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

অনুযায়ী 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
প্রকাশিত Am J Hum Genet (2020)

ADGRL3 (LPHN3) variants predict substance use disorder

অনুযায়ী 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
প্রকাশিত Transl Psychiatry (2019)