Biallelic ZBTB11 Variants: A Neurodevelopmental Condition with Progressive Complex Movement Disorders
Ortigoza‐Escobar, Juan Darío, Zamani, Mina, Dorison, Nathalie, Sadeghian, Saeid, Azizimalamiri, Reza, Alvi, Javeria Raza, Sultan, Tipu, Galehdari, Hamid, Shariati, Gholamreza, Saberi, Alihossein, Leeuwen, Lisette, Zifarelli, Giovanni, Bauer, Peter, d'Hardemare, Vincent, Doummar, Diane, Roze, Emmanuel, Travaglini, Lorena, Nicita, Francesco, Ojea Ponce, Núria, Zahraei, Seyed Mohammadsaleh, Alabdi, Lama, Tamim, Abdullah, Hashem, Mais O., Ababneh, Faroug, Morrow, Michelle M, Curry, Cynthia, Tam, Allison, Ruedy, Jessica, Bhambhani, Vikas, Veith, Regan, Strømme, Petter, Efthymiou, Stephanie, Alkuraya, Fowzan S, Moreno‐De‐Luca, Andres, Burglen, Lydie, Houlden, Henry, Maroofian, Reza
Published in Movement disorders (01.09.2024)
Published in Movement disorders (01.09.2024)
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A recurrent homozygous missense DPM3 variant leads to muscle and brain disease
Nagy, Sara, Lau, Tracy, Alavi, Shahryar, Karimiani, Ehsan Ghayoor, Vallian, Jalal, Ng, Bobby G., Noroozi Asl, Samaneh, Akhondian, Javad, Bahreini, Amir, Yaghini, Omid, Uapinyoying, Prech, Bonnemann, Carsten, Freeze, Hudson H., Dissanayake, Vajira H. W., Sirisena, Nirmala D., Schmidts, Miriam, Houlden, Henry, Moreno‐De‐Luca, Andres, Maroofian, Reza
Published in Clinical genetics (01.12.2022)
Published in Clinical genetics (01.12.2022)
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PI4K2A deficiency causes innate error in intracellular trafficking with developmental and epileptic‐dyskinetic encephalopathy
Dafsari, Hormos Salimi, Pemberton, Joshua G., Ferrer, Elizabeth A., Yammine, Tony, Farra, Chantal, Mohammadi, Mohammad Hasan, Ghayoor Karimiani, Ehsan, Hashemi, Narges, Souaid, Mirna, Sabbagh, Sandra, Najarzadeh Torbati, Paria, Khan, Suliman, Roze, Emmanuel, Moreno‐De‐Luca, Andres, Bertoli‐Avella, Aida M., Houlden, Henry, Balla, Tamas, Maroofian, Reza
Published in Annals of clinical and translational neurology (01.09.2022)
Published in Annals of clinical and translational neurology (01.09.2022)
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Molecular Diagnostic Yield of Exome Sequencing in Patients With Cerebral Palsy
Moreno-De-Luca, Andrés, Millan, Francisca, Pesacreta, Denis R, Elloumi, Houda Z, Oetjens, Matthew T, Teigen, Claire, Wain, Karen E, Scuffins, Julie, Myers, Scott M, Torene, Rebecca I, Gainullin, Vladimir G, Arvai, Kevin, Kirchner, H. Lester, Ledbetter, David H, Retterer, Kyle, Martin, Christa L
Published in JAMA : the journal of the American Medical Association (02.02.2021)
Published in JAMA : the journal of the American Medical Association (02.02.2021)
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Developmental brain dysfunction: revival and expansion of old concepts based on new genetic evidence
Moreno-De-Luca, Andres, MD, Myers, Scott M, MD, Challman, Thomas D, MD, Moreno-De-Luca, Daniel, MD, Evans, David W, PhD, Ledbetter, David H, Dr
Published in Lancet neurology (01.04.2013)
Published in Lancet neurology (01.04.2013)
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A framework for the investigation of rare genetic disorders in neuropsychiatry
Sanders, Stephan J., Sahin, Mustafa, Hostyk, Joseph, Thurm, Audrey, Jacquemont, Sebastien, Avillach, Paul, Douard, Elise, Martin, Christa L., Modi, Meera E., Moreno-De-Luca, Andres, Raznahan, Armin, Anticevic, Alan, Dolmetsch, Ricardo, Feng, Guoping, Geschwind, Daniel H., Glahn, David C., Goldstein, David B., Ledbetter, David H., Mulle, Jennifer G., Pasca, Sergiu P., Samaco, Rodney, Sebat, Jonathan, Pariser, Anne, Lehner, Thomas, Gur, Raquel E., Bearden, Carrie E.
Published in Nature medicine (01.10.2019)
Published in Nature medicine (01.10.2019)
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The Cognitive and Behavioral Phenotype of the 16p11.2 Deletion in a Clinically Ascertained Population
Hanson, Ellen, Bernier, Raphael, Porche, Ken, Jackson, Frank I, Goin-Kochel, Robin P, Snyder, LeeAnne Green, Snow, Anne V, Wallace, Arianne Stevens, Campe, Katherine L, Zhang, Yuan, Chen, Qixuan, D’Angelo, Debra, Moreno-De-Luca, Andres, Orr, Patrick T, Boomer, K.B, Evans, David W, Kanne, Stephen, Berry, Leandra, Miller, Fiona K, Olson, Jennifer, Sherr, Elliot, Martin, Christa L, Ledbetter, David H, Spiro, John E, Chung, Wendy K
Published in Biological psychiatry (1969) (01.05.2015)
Published in Biological psychiatry (1969) (01.05.2015)
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Genetic insights into the causes and classification of the cerebral palsies
Moreno-De-Luca, Andres, Dr, Ledbetter, David H, PhD, Martin, Christa L, PhD
Published in Lancet neurology (01.03.2012)
Published in Lancet neurology (01.03.2012)
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Molecular Diagnostic Yield of Exome Sequencing in Patients With Congenital Hydrocephalus: A Systematic Review and Meta-Analysis
Greenberg, Ana B W, Mehta, Neel H, Allington, Garrett, Jin, Sheng Chih, Moreno-De-Luca, Andrés, Kahle, Kristopher T
Published in JAMA network open (01.11.2023)
Published in JAMA network open (01.11.2023)
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Social cognition and neural substrates of face perception: Implications for neurodevelopmental and neuropsychiatric disorders
Lazar, Steven M., Evans, David W., Myers, Scott M., Moreno-De Luca, Andres, Moore, Gregory J.
Published in Behavioural brain research (15.04.2014)
Published in Behavioural brain research (15.04.2014)
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Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity
Lin, Sheng-Jia, Vona, Barbara, Lau, Tracy, Huang, Kevin, Zaki, Maha S, Aldeen, Huda Shujaa, Karimiani, Ehsan Ghayoor, Rocca, Clarissa, Noureldeen, Mahmoud M, Saad, Ahmed K, Petree, Cassidy, Bartolomaeus, Tobias, Abou Jamra, Rami, Zifarelli, Giovanni, Gotkhindikar, Aditi, Wentzensen, Ingrid M, Liao, Mingjuan, Cork, Emalyn Elise, Varshney, Pratishtha, Hashemi, Narges, Mohammadi, Mohammad Hasan, Rad, Aboulfazl, Neira, Juanita, Toosi, Mehran Beiraghi, Knopp, Cordula, Kurth, Ingo, Challman, Thomas D, Smith, Rebecca, Abdalla, Asmahan, Haaf, Thomas, Suri, Mohnish, Joshi, Manali, Chung, Wendy K, Moreno-De-Luca, Andres, Houlden, Henry, Maroofian, Reza, Varshney, Gaurav K
Published in Genome medicine (29.11.2023)
Published in Genome medicine (29.11.2023)
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Phenotypic continuum of NFU1‐related disorders
Kaiyrzhanov, Rauan, Zaki, Maha S., Lau, Tracy, Sen, Sambuddha, Azizimalamiri, Reza, Zamani, Mina, Sayin, Gözde Yeşil, Hilander, Taru, Efthymiou, Stephanie, Chelban, Viorica, Brown, Ruth, Thompson, Kyle, Scarano, Maria Irene, Ganesh, Jaya, Koneev, Kairgali, Gülaçar, Ismail Musab, Person, Richard, Sadykova, Dinara, Maidyrov, Yerdan, Seifi, Tahereh, Zadagali, Aizhan, Bernard, Geneviève, Allis, Katrina, Elloumi, Houda Zghal, Lindy, Amanda, Taghiabadi, Ehsan, Verma, Sumit, Logan, Rachel, Kirmse, Brian, Bai, Renkui, Khalaf, Shaimaa M., Abdel‐Hamid, Mohamed S., Sedaghat, Alireza, Shariati, Gholamreza, Issa, Mahmoud, Zeighami, Jawaher, Elbendary, Hasnaa M., Brown, Garry, Taylor, Robert W., Galehdari, Hamid, Gleeson, Joseph J., Carroll, Christopher J., Cowan, James A., Moreno‐De‐Luca, Andres, Houlden, Henry, Maroofian, Reza
Published in Annals of clinical and translational neurology (01.12.2022)
Published in Annals of clinical and translational neurology (01.12.2022)
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Cross-Disorder Comparison of Four Neuropsychiatric CNV Loci
Moreno-De-Luca, Daniel, Moreno-De-Luca, Andres, Cubells, Joseph F., Sanders, Stephan J.
Published in Current genetic medicine reports (01.09.2014)
Published in Current genetic medicine reports (01.09.2014)
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Genomic insights into the causes and classification of the cerebral palsies
Moreno-De-Luca, Andres, Ledbetter, David H, Martin, Christa L
Published in Lancet neurology (01.03.2012)
Published in Lancet neurology (01.03.2012)
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Diagnostic Yield of Exome Sequencing in Cerebral Palsy and Implications for Genetic Testing Guidelines: A Systematic Review and Meta-analysis
Gonzalez-Mantilla, Pedro J, Hu, Yirui, Myers, Scott M, Finucane, Brenda M, Ledbetter, David H, Martin, Christa L, Moreno-De-Luca, Andres
Published in JAMA pediatrics (01.05.2023)
Published in JAMA pediatrics (01.05.2023)
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OP050 - Identifying loss of function FLCN variants and Birt-Hogg-Dube-associated phenotypes in a large, healthcare-based cohort
Savatt, Juliann, Shimelis, Hermela, Myers, Scott, Moreno-De-Luca, Andres, Finucane, Brenda
Published in Molecular genetics and metabolism (01.04.2021)
Published in Molecular genetics and metabolism (01.04.2021)
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