AndresMoreno De LucaMD

PubMed

• 50 citations
  Molecular Diagnostic Yield of Exome Sequencing in Patients With Cerebral Palsy.
  Andres Moreno-De-Luca, Francisca Millan, Denis R. Pesacreta, Houda Zghal Elloumi, Matthew T. Oetjens, Claire Teigen, Karen E. Wain, Julie Scuffins, Scott M. Myers, Reb...> ;JAMA. 2021 Feb 2
• 9 citations
  Expanding the Phenotype of TUBB2A-Related Tubulinopathy: Three Cases of a Novel, Heterozygous TUBB2A Pathogenic Variant p.Gly98Arg
  Lindsey Schmidt, Karen E. Wain, Catherine Hajek, Juvianee I Estrada-Veras, Maria J. Guillen Sacoto, Ingrid M. Wentzensen, Alka Malhotra, Amanda Clause, Denise L. Perry...> ;Molecular Syndromology. 2020 Dec 9
• 70 citations
  Exome sequencing implicates genetic disruption of prenatal neuro-gliogenesis in sporadic congenital hydrocephalus
  Sheng Chih Jin, Weilai Dong, Adam J. Kundishora, Shreyas Panchagnula, Andres Moreno-De-Luca, Charuta G. Furey, August A Allocco, Rebecca L. Walker, Carol Nelson-Willia...> ;Nature Medicine. 2020 Oct 19
• 3 citations
  Carotid artery atherosclerosis is not associated with hyoid proximity: Results from a cross-sectional and longitudinal cohort study.
  James E. Siegler, Glenn Konsky, Christopher Renner, Andres Moreno-De-Luca, David Gutman, Brett L. Cucchiara, Steven R. Messé> ;Clinical Imaging. 2019 Jun 14
• 68 citations
  A framework for the investigation of rare genetic disorders in neuropsychiatry
  Stephen Sanders, Mustafa Sahin, Joseph Hostyk, Audrey Thurm, Sébastien Jacquemont, Paul Avillach, Elise Douard, Christa Lese Martin, Meera E. Modi, Andres Moreno-De-Lu...> ;Nature Medicine. 2019 Sep 23
• 66 citations
  Genetic or Other Causation Should Not Change the Clinical Diagnosis of Cerebral Palsy
  Alastair H. MacLennan, Sara A. Lewis, Andres Moreno-De-Luca, Michael C Fahey, Richard J. Leventer, Sarah McIntyre, Hilla Ben-Pazi, Mark A. Corbett, Xiaoyang Wang, Gare...> ;Journal of Child Neurology. 2019 Apr 9
• 16 citations
  Cerebral palsy and genomics: an international consortium
  Alastair H. MacLennan, Michael C. Kruer, Gareth Baynam, Andres Moreno-De-Luca, Yana A. Wilson, Changlian Zhu, Richard F. Wintle, Jozef Gecz> ;Developmental Medicine and Child Neurology. 2018 Feb 1
• 79 citations
  A Cross-Disorder Method to Identify Novel Candidate Genes for Developmental Brain Disorders
  Andrea J. Gonzalez-Mantilla, Andres Moreno-De-Luca, David H. Ledbetter, Christa Lese Martin> ;JAMA Psychiatry. 2016 Mar 1
• 162 citations
  The Cognitive and Behavioral Phenotype of the 16p11.2 Deletion in a Clinically Ascertained Population
  Ellen Hanson, Raphael Bernier, Ken Porche, Frank I. Jackson, Robin P. Goin-Kochel, LeeAnne Green Snyder, Anne V. Snow, Arianne S. Wallace, Katherine L. Campe, Yuan Zha...> ;Biological Psychiatry. 2015 May 1
• 96 citations
  The Role of Parental Cognitive, Behavioral, and Motor Profiles in Clinical Variability in Individuals With Chromosome 16p11.2 Deletions
  Andres Moreno-De-Luca, David W. Evans, K. B. Boomer, Ellen Hanson, Raphael Bernier, Robin P. Goin-Kochel, Scott M. Myers, Thomas D. Challman, Daniel Moreno-De-Luca, My...> ;JAMA Psychiatry. 2015 Feb 1
• 52 citations
  Rare copy number variation in cerebral palsy
  Gai L McMichael, Santhosh Girirajan, Andres Moreno-De-Luca, Jozef Gecz, Chloe Shard, Lam Son Nguyen, Jillian Nicholl, Catherine S. Gibson, Eric Haan, Evan E. Eichler, ...> ;European Journal of Human Genetics. 2014 Jan 1
• 11 citations
  Radiological and clinical characterization of the lysosomal storage disorders: non-lipid disorders
  Minzhi Xing, E I Parker, Andres Moreno-De-Luca, Elie Harmouche, Michael R. Terk> ;The British Journal of Radiology. 2014 Jan 1
• 69 citations
  Neurodevelopmental disorders: mechanisms and boundary definitions from genomes, interactomes and proteomes.
  Ariana P. Mullin, Avanti Gokhale, Andres Moreno-De-Luca, Subhabrata Sanyal, John L. Waddington, Victor Faundez> ;Translational Psychiatry. 2013 Dec 3
• 213 citations
  Developmental brain dysfunction: revival and expansion of old concepts based on new genetic evidence
  Andres Moreno-De-Luca, Scott M. Myers, Thomas D. Challman, Daniel Moreno-De-Luca, David W. Evans, David H. Ledbetter> ;The Lancet. Neurology. 2013 Apr 1
• 73 citations
  Quantitative proteomic and genetic analyses of the schizophrenia susceptibility factor dysbindin identify novel roles of the biogenesis of lysosome-related organelles ...
  Avanti Gokhale, Jennifer L. Larimore, Erica Werner, Lomon So, Andres Moreno-De-Luca, Christa Lese-Martin, Vladimir Lupashin, Yoland Smith, Victor Faundez> ;The Journal of Neuroscience. 2012 Mar 14
• 87 citations
  Genetic insights into the causes and classification of the cerebral palsies
  Andres Moreno-De-Luca, David H. Ledbetter, Christa Lese Martin> ;The Lancet. Neurology. 2012 Mar 1
• 311 citations
  An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.
  Erin B. Kaminsky, Vineith Kaul, Justin Paschall, Deanna M. Church, Brian Bunke, Dawn Kunig, Daniel Moreno-De-Luca, Andres Moreno-De-Luca, Jennifer G. Mulle, Stephen T....> ;Genetics in Medicine. 2011 Sep 1
• 129 citations
  Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disability
  Andres Moreno-De-Luca, Sandra L Helmers, Hui Mao, Thomas G Burns, Amanda M A Melton, Karen R Schmidt, Paul M Fernhoff, David H. Ledbetter, Christa Lese Martin> ;Journal of Medical Genetics. 2011 Feb 1
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