Andrés Moreno-De-Luca

queen's university

H指数:23

被引数:3,258

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Developmental genetic determinants of the human cerebrospinal fluid–ventricular system

人类脑脊液-脑室系统的发育遗传决定因素

Science Translational Medicine

IF14.6

2026-07-080

PRE

Cerebellar Overgrowth Subtype of Chiari Malformation Type 1 and Genetic Dysregulation of PI3K Signaling

NEUROSURGERY

IF3.9

2025-04-010

PRE

Monogenic disorders associated with motor speech phenotypes in children and adolescents undergoing clinical exome sequencing

与进行临床外显子测序的儿童和青少年运动性言语表型相关的单基因病

GENETICS IN MEDICINE

IF6.2

2025-02-010

OAAI

Pathogenic variants in autism gene KATNAL2 cause hydrocephalus and disrupt neuronal connectivity by impairing ciliary microtubule dynamics

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

IF9.1

2024-06-251

PRE

DeSpenza Jr, Tyrone; Singh, Amrita; Allington, Garrett; Zhao, Shujuan; Lee, Junghoon; Kiziltug, Emre; Prina, Mackenzi L.; Desmet, Nicole; Dang, Huy Q.; Fields, Jennifer; Nelson-Williams, Carol; Zhang, Junhui; Mekbib, Kedous Y.; Dennis, Evan; Mehta, Neel H.; Duy, Phan Q.; Shimelis, Hermela; Walsh, Lauren K.; Marlier, Arnaud; Deniz, Engin; Lake, Evelyn M. R.; Constable, R. Todd; Hoffman, Ellen J.; Lifton, Richard P.; Gulledge, Allan; Fiering, Steven; Moreno-De-Luca, Andres; Haider, Shozeb; Alper, Seth L.; Jin, Sheng Chih; Kahle, Kristopher T.; Luikart, Bryan W.

Biallelic ZBTB11 Variants: A Neurodevelopmental Condition with Progressive Complex Movement Disorders

MOVEMENT DISORDERS

IF7.6

2024-06-200

Ortigoza-Escobar, Juan Dario; 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, Nuria; 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; Stromme, Petter; Efthymiou, Stephanie; Alkuraya, Fowzan S.; Moreno-De-Luca, Andres; Burglen, Lydie; Houlden, Henry; Maroofian, Reza

TRIM71 mutations cause a neurodevelopmental syndrome featuring ventriculomegaly and hydrocephalus

BRAIN

IF11.7

2024-06-041

PRE

Duy, Phan Q.; Jux, Bettina; Zhao, Shujuan; Mekbib, Kedous Y.; Dennis, Evan; Dong, Weilai; Nelson-Williams, Carol; Mehta, Neel H.; Shohfi, John P.; Juusola, Jane; Allington, Garrett; Smith, Hannah; Marlin, Sandrine; Belhous, Kahina; Monteleone, Berrin; Schaefer, G. Bradley; Pisarska, Margareta D.; Vasquez, Jaime; Estrada-Veras, Juvianee, I; Keren, Boris; Mignot, Cyril; Flore, Leigh A.; Palafoll, Irene, V; Alper, Seth L.; Lifton, Richard P.; Haider, Shozeb; Moreno-De-Luca, Andres; Jin, Sheng Chih; Kolanus, Waldemar; Kahle, Kristopher T.

Exome sequencing reveals genetic heterogeneity and clinically actionable findings in children with cerebral palsy

外显子组测序揭示脑瘫儿童的遗传异质性和临床可行发现

NATURE MEDICINE

IF50

2024-05-013

PRE

Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications

n末端乙酰化能力受损的双等位基因NAA60变体导致常染色体隐性遗传原发性家族性脑钙化

NATURE COMMUNICATIONS

IF15.7

2024-03-137

OAAI

Chelban, Viorica; Aksnes, Henriette; Maroofian, Reza; LaMonica, Lauren C.; Seabra, Luis; Siggervag, Anette; Devic, Perrine; Shamseldin, Hanan E.; Vandrovcova, Jana; Murphy, David; Richard, Anne-Claire; Quenez, Olivier; Bonnevalle, Antoine; Zanetti, M. Natalia; Kaiyrzhanov, Rauan; Salpietro, Vincenzo; Efthymiou, Stephanie; Schottlaender, Lucia V.; Morsy, Heba; Scardamaglia, Annarita; Tariq, Ambreen; Pagnamenta, Alistair T.; Pennavaria, Ajia; Krogstad, Liv S.; Bekkelund, Ase K.; Caiella, Alessia; Glomnes, Nina; Bronstad, Kirsten M.; Tury, Sandrine; De Luca, Andres Moreno; Boland-Auge, Anne; Olaso, Robert; Deleuze, Jean-Francois; Anheim, Mathieu; Cretin, Benjamin; Vona, Barbara; Alajlan, Fahad; Abdulwahab, Firdous; Battini, Jean-Luc; Ipek, Rojan; Bauer, Peter; Zifarelli, Giovanni; Gungor, Serdal; Kurul, Semra Hiz; Lochmuller, Hanns; Da'as, Sahar I.; Fakhro, Khalid A.; Gomez-Pascual, Alicia; Botia, Juan A.; Wood, Nicholas W.; Horvath, Rita; Ernst, Andreas M.; Rothman, James E.; McEntagart, Meriel; Crow, Yanick J.; Alkuraya, Fowzan S.; Nicolas, Gael; Arnesen, Thomas; Houlden, Henry

A novel SMARCC1 BAFopathy implicates neural progenitor epigenetic dysregulation in human hydrocephalus

BRAIN

IF11.7

2023-12-214

PRE

Singh, Amrita K.; Allington, Garrett; Viviano, Stephen; McGee, Stephen; Kiziltug, Emre; Ma, Shaojie; Zhao, Shujuan; Mekbib, Kedous Y.; Shohfi, John P.; Duy, Phan Q.; DeSpenza, Tyrone; Furey, Charuta G.; Reeves, Benjamin C.; Smith, Hannah; Sousa, Andre M. M.; Cherskov, Adriana; Allocco, August; Nelson-Williams, Carol; Haider, Shozeb; Rizvi, Syed R. A.; Alper, Seth L.; Sestan, Nenad; Shimelis, Hermela; Walsh, Lauren K.; Lifton, Richard P.; Moreno-De-Luca, Andres; Jin, Sheng Chih; Kruszka, Paul; Deniz, Engin; Kahle, Kristopher T.

Human genetics and molecular genomics of Chiari malformation type 1

Trends in Molecular Medicine

IF13.8

2023-12-013

PRE

Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity

GENOME MEDICINE

IF11.2

2023-11-291

OAAI

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.

Molecular Diagnostic Yield of Exome Sequencing in Patients With Congenital Hydrocephalus: A Systematic Review and Meta-Analysis

JAMA NETWORK OPEN

IF9.7

2023-11-223

OAAI

Mutation of key signaling regulators of cerebrovascular development in vein of Galen malformations

NATURE COMMUNICATIONS

IF15.7

2023-11-1710

OAAI

Zhao, Shujuan; Mekbib, Kedous Y.; van der Ent, Martijn A.; Allington, Garrett; Prendergast, Andrew; Chau, Jocelyn E.; Smith, Hannah; Shohfi, John; Ocken, Jack; Duran, Daniel; Furey, Charuta G.; Hao, Le Thi; Duy, Phan Q.; Reeves, Benjamin C.; Zhang, Junhui; Nelson-Williams, Carol; Chen, Di; Li, Boyang; Nottoli, Timothy; Bai, Suxia; Rolle, Myron; Zeng, Xue; Dong, Weilai; Fu, Po-Ying; Wang, Yung-Chun; Mane, Shrikant; Piwowarczyk, Paulina; Fehnel, Katie Pricola; See, Alfred Pokmeng; Iskandar, Bermans J.; Aagaard-Kienitz, Beverly; Moyer, Quentin J.; Dennis, Evan; Kiziltug, Emre; Kundishora, Adam J.; DeSpenza Jr, Tyrone; Greenberg, Ana B. W.; Kidanemariam, Seblewengel M.; Hale, Andrew T.; Johnston, James M.; Jackson, Eric M.; Storm, Phillip B.; Lang, Shih-Shan; Butler, William E.; Carter, Bob S.; Chapman, Paul; Stapleton, Christopher J.; Patel, Aman B.; Rodesch, Georges; Smajda, Stanislas; Berenstein, Alejandro; Barak, Tanyeri; Erson-Omay, E. Zeynep; Zhao, Hongyu; Moreno-De-Luca, Andres; Proctor, Mark R.; Smith, Edward R.; Orbach, Darren B.; Alper, Seth L.; Nicoli, Stefania; Boggon, Titus J.; Lifton, Richard P.; Gunel, Murat; King, Philip D.; Jin, Sheng Chih; Kahle, Kristopher T.

Diagnostic Yield of Exome Sequencing in Cerebral Palsy and Implications for Genetic Testing Guidelines: A Systematic Review and Meta-analysis

OBSTETRICAL & GYNECOLOGICAL SURVEY

IF3.6

2023-11-010

PRE

Implications of Genetic Variants in Cerebral Palsy Reply

JAMA PEDIATRICS

IF18

2023-08-010

PRE

It's time to offer genetic testing to all individuals diagnosed with cerebral palsy

PARKINSONISM & RELATED DISORDERS

IF3.4

2023-06-010

PRE

Diagnostic Yield of Exome Sequencing in Cerebral Palsy and Implications for Genetic Testing Guidelines A Systematic Review and Meta-analysis

JAMA PEDIATRICS

IF18

2023-05-0122

PRE

Multiomic analyses implicate a neurodevelopmental program in the pathogenesis of cerebral arachnoid cysts

NATURE MEDICINE

IF50

2023-03-066

PRE

Kundishora, Adam J.; Allington, Garrett; McGee, Stephen; Mekbib, Kedous Y.; Gainullin, Vladimir; Timberlake, Andrew T.; Nelson-Williams, Carol; Kiziltug, Emre; Smith, Hannah; Ocken, Jack; Shohfi, John; Allocco, August; Duy, Phan Q.; Elsamadicy, Aladine A.; Dong, Weilai; Zhao, Shujuan; Wang, Yung-Chun; Qureshi, Hanya M.; DiLuna, Michael L.; Mane, Shrikant; Tikhonova, Irina R.; Fu, Po-Ying; Castaldi, Christopher; Lopez-Giraldez, Francesc; Knight, James R.; Furey, Charuta G.; Carter, Bob S.; Haider, Shozeb; Moreno-De-Luca, Andres; Alper, Seth L.; Gunel, Murat; Millan, Francisca; Lifton, Richard P.; Torene, Rebecca I.; Jin, Sheng Chih; Kahle, Kristopher T.

The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders

BRAIN

IF11.7

2023-02-094

OAAI

Saffari, Afshin; Lau, Tracy; Tajsharghi, Homa; Karimiani, Ehsan Ghayoor; Kariminejad, Ariana; Efthymiou, Stephanie; Zifarelli, Giovanni; Sultan, Tipu; Toosi, Mehran Beiraghi; Sedighzadeh, Sahar; Siu, Victoria Mok; Dario Ortigoza-Escobar, Juan; AlShamsi, Aisha M.; Ibrahim, Shahnaz; Al-Sannaa, Nouriya Abbas; Al-Hertani, Walla; Sandra, Whalen; Tarnopolsky, Mark; Alavi, Shahryar; Li, Chumei; Day-Salvatore, Debra-Lynn; Jesus Martinez-Gonzalez, Maria; Levandoski, Kristin M.; Bedoukian, Emma; Madan-Khetarpal, Suneeta; Idleburg, Michaela J.; Menezes, Minal Juliet; Siddharth, Aishwarya; Platzer, Konrad; Oppermann, Henry; Smitka, Martin; Collins, Felicity; Lek, Monkol; Shahrooei, Mohmmad; Ghavideldarestani, Maryam; Herman, Isabella; Rendu, John; Faure, Julien; Baker, Janice; Bhambhani, Vikas; Calderwood, Laurel; Akhondian, Javad; Imannezhad, Shima; Mirzadeh, Hanieh Sadat; Hashemi, Narges; Doosti, Mohammad; Safi, Mojtaba; Ahangari, Najmeh; Torbati, Paria Najarzadeh; Abedini, Soheila; Salpietro, Vincenzo; Gulec, Elif Yilmaz; Eshaghian, Safieh; Ghazavi, Mohammadreza; Pascher, Michael T.; Vogel, Marina; Abicht, Angela; Moutton, Sebastien; Bruel, Ange-Line; Rieubland, Claudine; Gallati, Sabina; Strom, Tim M.; Lochmueller, Hanns; Mohammadi, Mohammad Hasan; Alvi, Javeria Raza; Zackai, Elaine H.; Keena, Beth A.; Skraban, Cara M.; Berger, Seth, I; Andrew, Erin H.; Rahimian, Elham; Morrow, Michelle M.; Wentzensen, Ingrid M.; Millan, Francisca; Henderson, Lindsay B.; Dafsari, Hormos Salimi; Jungbluth, Heinz; Gomez-Ospina, Natalia; McRae, Anne; Peter, Merlene; Veltra, Danai; Marinakis, Nikolaos M.; Sofocleous, Christalena; Ashrafzadeh, Farah; Pehlivan, Davut; Lemke, Johannes R.; Melki, Judith; Benezit, Audrey; Bauer, Peter; Weis, Denisa; Lupski, James R.; Senderek, Jan; Christodoulou, John; Chung, Wendy K.; Goodchild, Rose; Offiah, Amaka C.; Moreno-De-Luca, Andres; Suri, Mohnish; Ebrahimi-Fakhari, Darius; Houlden, Henry; Maroofian, Reza

BRIEF REPORT Phenotypic shift in copy number variants: Evidence in 16p11.2 duplication syndrome

GENETICS IN MEDICINE

IF6.2

2023-01-016

OAAI

Andrés Moreno-De-Luca

个人简介

教育背景

工作经历

荣誉奖项

研究方向