Molecular testing in holoprosencephaly
Kruszka, Paul, Martinez, Ariel F., Muenke, Maximilian
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.06.2018)
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.06.2018)
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Journal Article
De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms
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
Published in American journal of human genetics (06.10.2016)
Published in American journal of human genetics (06.10.2016)
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Journal Article
Biallelic variants in KYNU cause a multisystemic syndrome with hand hyperphalangism
Ehmke, Nadja, Cusmano-Ozog, Kristina, Koenig, Rainer, Holtgrewe, Manuel, Nur, Banu, Mihci, Ercan, Babcock, Holly, Gonzaga-Jauregui, Claudia, Overton, John D., Xiao, Jing, Martinez, Ariel F., Muenke, Maximilian, Balzer, Alexander, Jochim, Judith, El Choubassi, Naji, Fischer-Zirnsak, Björn, Huber, Céline, Kornak, Uwe, Elsea, Sarah H., Cormier-Daire, Valérie, Ferreira, Carlos R.
Published in Bone (New York, N.Y.) (01.04.2020)
Published in Bone (New York, N.Y.) (01.04.2020)
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Journal Article
Low-level parental mosaicism affects the recurrence risk of holoprosencephaly
Hu, Ping, Martinez, Ariel F, Kruszka, Paul, Berger, Seth, Roessler, Erich, Muenke, Maximilian
Published in Genetics in medicine (01.04.2019)
Published in Genetics in medicine (01.04.2019)
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Journal Article
A CCR4-NOT Transcription Complex, Subunit 1, CNOT1, Variant Associated with Holoprosencephaly
Kruszka, Paul, Berger, Seth I., Weiss, Karin, Everson, Joshua L., Martinez, Ariel F., Hong, Sungkook, Anyane-Yeboa, Kwame, Lipinski, Robert J., Muenke, Maximilian
Published in American journal of human genetics (02.05.2019)
Published in American journal of human genetics (02.05.2019)
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Journal Article
An Ultraconserved Brain-Specific Enhancer Within ADGRL3 (LPHN3) Underpins Attention-Deficit/Hyperactivity Disorder Susceptibility
Martinez, Ariel F., Abe, Yu, Hong, Sungkook, Molyneux, Kevin, Yarnell, David, Löhr, Heiko, Driever, Wolfgang, Acosta, Maria T., Arcos-Burgos, Mauricio, Muenke, Maximilian
Published in Biological psychiatry (1969) (15.12.2016)
Published in Biological psychiatry (1969) (15.12.2016)
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Journal Article
Novel heterozygous variants in KMT2D associated with holoprosencephaly
Tekendo‐Ngongang, Cedrik, Kruszka, Paul, Martinez, Ariel F., Muenke, Maximilian
Published in Clinical genetics (01.09.2019)
Published in Clinical genetics (01.09.2019)
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Journal Article
The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis
Weiss, Karin, Lazar, Hayley P, Kurolap, Alina, Martinez, Ariel F, Paperna, Tamar, Cohen, Lior, Smeland, Marie F, Whalen, Sandra, Heide, Solveig, Keren, Boris, Terhal, Pauline, Irving, Melita, Takaku, Motoki, Roberts, John D, Petrovich, Robert M, Schrier Vergano, Samantha A, Kenney, Amy, Hove, Hanne, DeChene, Elizabeth, Quinonez, Shane C, Colin, Estelle, Ziegler, Alban, Rumple, Melissa, Jain, Mahim, Monteil, Danielle, Roeder, Elizabeth R, Nugent, Kimberly, van Haeringen, Arie, Gambello, Michael, Santani, Avni, Medne, Līvija, Krock, Bryan, Skraban, Cara M, Zackai, Elaine H, Dubbs, Holly A, Smol, Thomas, Ghoumid, Jamal, Parker, Michael J, Wright, Michael, Turnpenny, Peter, Clayton-Smith, Jill, Metcalfe, Kay, Kurumizaka, Hitoshi, Gelb, Bruce D, Baris Feldman, Hagit, Campeau, Philippe M, Muenke, Maximilian, Wade, Paul A, Lachlan, Katherine
Published in Genetics in medicine (01.02.2020)
Published in Genetics in medicine (01.02.2020)
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Journal Article
Determination of organochlorine and organophosphorus residues in surface waters from the coffee zone in Quindío, Colombia
García Ríos, Alejandro, Martínez, Ariel S., Londoño, Ángela L., Restrepo, Beatriz, Landázuri, Patricia
Published in Journal of environmental science and health. Part B, Pesticides, food contaminants, and agricultural wastes (2020)
Published in Journal of environmental science and health. Part B, Pesticides, food contaminants, and agricultural wastes (2020)
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Journal Article
Craniosynostosis and Noonan syndrome with KRAS mutations: Expanding the phenotype with a case report and review of the literature
Addissie, Yonit A., Kotecha, Udhaya, Hart, Rachel A., Martinez, Ariel F., Kruszka, Paul, Muenke, Maximilian
Published in American journal of medical genetics. Part A (01.11.2015)
Published in American journal of medical genetics. Part A (01.11.2015)
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Journal Article
Machine Learning Prediction of ADHD Severity: Association and Linkage to ADGRL3, DRD4, and SNAP25
Cervantes-Henríquez, Martha L., Acosta-López, Johan E., Martinez, Ariel F., Arcos-Burgos, Mauricio, Puentes-Rozo, Pedro J., Vélez, Jorge I.
Published in Journal of attention disorders (01.02.2022)
Published in Journal of attention disorders (01.02.2022)
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Journal Article
Loss of function in ROBO1 is associated with tetralogy of Fallot and septal defects
Kruszka, Paul, Tanpaiboon, Pranoot, Neas, Katherine, Crosby, Kathleen, Berger, Seth I, Martinez, Ariel F, Addissie, Yonit A, Pongprot, Yupada, Sittiwangkul, Rekwan, Silvilairat, Suchaya, Makonkawkeyoon, Krit, Yu, Lan, Wynn, Julia, Bennett, James T, Mefford, Heather C, Reynolds, William T, Liu, Xiaoqin, Mommersteeg, Mathilda T M, Chung, Wendy K, Lo, Cecilia W, Muenke, Maximilian
Published in Journal of medical genetics (01.12.2017)
Published in Journal of medical genetics (01.12.2017)
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Journal Article
Human Germline Hedgehog Pathway Mutations Predispose to Fatty Liver
Sacoto, Maria J. Guillen, 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
Published in Journal of hepatology (01.10.2017)
Published in Journal of hepatology (01.10.2017)
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Journal Article
Clinical and Demographic Evaluation of a Holoprosencephaly Cohort From the Kyoto Collection of Human Embryos
Abe, Yu, Kruszka, Paul, Martinez, Ariel F., Roessler, Erich, Shiota, Kohei, Yamada, Shigehito, Muenke, Maximilian
Published in Anatomical record (Hoboken, N.J. : 2007) (01.06.2018)
Published in Anatomical record (Hoboken, N.J. : 2007) (01.06.2018)
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Journal Article
Identification of a novel PCNT founder pathogenic variant in the Israeli Druze population
Weiss, Karin, Ekhilevitch, Nina, Cohen, Lior, Bratman-Morag, Sharon, Bello, Rachel, Martinez, Ariel F., Hadid, Yarin, Shlush, Liran I., Kurolap, Alina, Paperna, Tamar, Mory, Adi, Baris, Hagit N., Muenke, Maximilian
Published in European journal of medical genetics (01.02.2020)
Published in European journal of medical genetics (01.02.2020)
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