Andrea Poretti - Publications, H-index & Citations

Andrea Poretti

Johns Hopkins University

44H指数

307论文数

7.3K被引数

收录论文 63

发表时间

Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome

HUMAN MUTATION

IF3.7

2019-11-14

OAAI

Hijazi, Hadia; Coelho, Fernanda S.; Gonzaga-Jauregui, Claudia; Bernardini, Laura; Mar, Soe S.; Manning, Melanie A.; Hanson-Kahn, Andrea; Naidu, SakkuBai; Srivastava, Siddharth; Lee, Jennifer A.; Jones, Julie R.; Friez, Michael J.; Alberico, Thomas; Torres, Barbara; Fang, Ping; Cheung, Sau Wai; Song, Xiaofei; Davis-Williams, Angelique; Jornlin, Carly; Wight, Patricia A.; Patyal, Pankaj; Taube, Jennifer; Poretti, Andrea; Inoue, Ken; Zhang, Feng; Pehlivan, Davut; Carvalho, Claudia M. B.; Hobson, Grace M.; Lupski, James R.

PLA2G6-associated neurodegeneration: New insights into brain abnormalities and disease progression

PARKINSONISM & RELATED DISORDERS

IF3.4

2019-04-01

PREAI

Darling, Alejandra; Aguilera-Albesa, Sergio; Aisha Tello, Cristina; Serrano, Mercedes; Tomas, Miguel; Camino-Leon, Rafael; Fernandez-Ramos, Joaquin; Jimenez-Escrig, Adriano; Poo, Pilar; O'Callaghan, Mar; Ortez, Carlos; Nascimento, Andres; Fernandez Mesaque, Ramon Candau; Madruga, Marcos; Arrabal, Luisa; Roldan, Susana; Gomez-Martin, Hilario; Garrido, Cristina; Temudo, Teresa; Jou-Munoz, Cristina; Muchart, Jordi; Huisman, Thierry A. G. M.; Poretti, Andrea; Lupo, Vincenzo; Espinos, Carmen; Perez-Duenas, Belen

Deregulated expression of EZH2 in congenital brainstem disconnection

NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

IF3.4

2017-05-22

OAAI

Barth, P. G.; Aronica, E.; Fox, S.; Fluiter, K.; Weterman, M. A. J.; Poretti, A.; Miller, D. C.; Boltshauser, E.; Harding, B.; Santi, M.; Baas, F.

Compound Heterozygous Variants in ROBO1 Cause a Neurodevelopmental Disorder With Absence of Transverse Pontine Fibers and Thinning of the Anterior Commissure and Corpus Callosum

PEDIATRIC NEUROLOGY

IF2.1

2017-05-01

PREAI

Calloni, Sonia F.; Cohen, Julie S.; Meoded, Avner; Juusola, Jane; Triulzi, Fabio M.; Huisman, Thierry A. G. M.; Poretti, Andrea; Fatemi, Ali

EARLY-ONSET HEAD TITUBATION IN A CHILD WITH PORETTI-BOLTSHAUSER SYNDROME

NEUROLOGY

IF8.5

2017-04-11

PREAI

Masson, Riccardo; Piretti, Elena; Pellegrin, Serena; Gusson, Elena; Poretti, Andrea; Valente, Enza Maria; Cantalupo, Gaetano

Cerebellar Microstructural Organization is Altered by Complications of Premature Birth: A Case-Control Study

JOURNAL OF PEDIATRICS

IF3.5

2017-03-01

OAAI

Brossard-Racine, Marie; Poretti, Andrea; Murnick, Jonathan; Bouyssi-Kobar, Marine; McCarter, Robert; du Plessis, Adre J.; Limperopoulos, Catherine

Distinguishing Arterial Ischemic Stroke From Hypoxic-Ischemic Encephalopathy in the Neonate at Birth Reply

OBSTETRICS AND GYNECOLOGY

IF4.7

2017-02-01

PREAI

Adami, Rebecca R.; Grundy, Maureen E.; Poretti, Andrea; Felling, Ryan J.; Lemmon, Monica; Graham, Ernest M.

Joubert syndrome: neuroimaging findings in 110 patients in correlation with cognitive function and genetic cause

JOURNAL OF MEDICAL GENETICS

IF3.7

2017-01-13

PREAI

Poretti, Andrea; Snow, Joseph; Summers, Angela C.; Tekes, Aylin; Huisman, Thierry A. G. M.; Aygun, Nafi; Carson, Kathryn A.; Doherty, Dan; Parisi, Melissa A.; Toro, Camilo; Yildirimli, Deniz; Vemulapalli, Meghana; Mullikin, Jim C.; Cullinane, Andrew R.; Vilboux, Thierry; Gahl, William A.; Gunay-Aygun, Meral

Case 236: Middle Interhemispheric Variant of Holoprosencephaly

RADIOLOGY

IF15.2

2016-12-01

PREAI

Yahyavi-Firouz-Abadi, Noushin; Poretti, Andrea; Idowu, Oluwatoyin R.; Hoon, Alexander H., Jr.; Huisman, Thierry A.; Izbudak, Izlem

SCN8A Epileptic Encephalopathy: Detection of Fetal Seizures Guides Multidisciplinary Approach to Diagnosis and Treatment

PEDIATRIC NEUROLOGY

IF2.1

2016-11-01

PREAI

McNally, Melanie A.; Johnson, Julia; Huisman, Thierry A.; Poretti, Andrea; Baranano, Kristin W.; Baschat, Ahmet A.; Stafstrom, Carl E.

Distinguishing Arterial Ischemic Stroke From Hypoxic-Ischemic Encephalopathy in the Neonate at Birth

OBSTETRICS AND GYNECOLOGY

IF4.7

2016-10-01

OAAI

Adami, Rebecca R.; Grundy, Maureen E.; Poretti, Andrea; Felling, Ryan J.; Lemmon, Monica; Graham, Ernest M.

Neuroimaging Findings in Congenital Zika Syndrome

AMERICAN JOURNAL OF NEURORADIOLOGY

IF3.7

2016-08-04

OAAI

Poretti, A.; Huisman, T. A. G. M.

Computed Tomographic Findings in Microcephaly Associated with Zika Virus

NEW ENGLAND JOURNAL OF MEDICINE

IF78.5

2016-06-02

182

OAAI

Hazin, Adriano N.; Poretti, Andrea; Turchi Martelli, Celina M.; Huisman, Thierry A.

Brain injury in neonatal incontinentia pigmenti: the role of multimodality neuroimaging

DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

IF4.3

2016-05-12

OAAI

Poretti, Andrea; Northington, Frances J.

Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes

JOURNAL OF MEDICAL GENETICS

IF3.7

2016-05-06

OAAI

Roosing, Susanne; Romani, Marta; Isrie, Mala; Rosti, Rasim Ozgur; Micalizzi, Alessia; Musaev, Damir; Mazza, Tommaso; Al-gazali, Lihadh; Altunoglu, Umut; Boltshauser, Eugen; D'Arrigo, Stefano; De Keersmaecker, Bart; Kayserili, Hulya; Brandenberger, Sarah; Kraoua, Ichraf; Mark, Paul R.; McKanna, Trudy; Van Keirsbilck, Joachim; Moerman, Philippe; Poretti, Andrea; Puri, Ratna; Van Esch, Hilde; Gleeson, Joseph G.; Valente, Enza Maria

Diffusion tensor imaging suggests extrapontine extension of pediatric diffuse intrinsic pontine gliomas

EUROPEAN JOURNAL OF RADIOLOGY

IF3.3

2016-04-01

OAAI

Wagner, Matthias W.; Bell, W. Robert; Kern, Jason; Bosemani, Thangamadhan; Mhlanga, Joyce; Carson, Kathryn A.; Cohen, Kenneth J.; Raabe, Eric H.; Rodriguez, Fausto; Huisman, Thierry A. G. M.; Poretti, Andrea

Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti-Boltshauser syndrome)

EUROPEAN JOURNAL OF HUMAN GENETICS

IF4.6

2016-03-02

OAAI

Micalizzi, Alessia; Poretti, Andrea; Romani, Marta; Ginevrino, Monia; Mazza, Tommaso; Aiello, Chiara; Zanni, Ginevra; Baumgartner, Bastian; Borgatti, Renato; Brockmann, Knut; Camacho, Ana; Cantalupo, Gaetano; Haeusler, Martin; Hikel, Christiane; Klein, Andrea; Mandrile, Giorgia; Mercuri, Eugenio; Rating, Dietz; Romaniello, Romina; Santorelli, Filippo Maria; Schimmel, Mareike; Spaccini, Luigina; Teber, Serap; von Moers, Arpad; Wente, Sarah; Ziegler, Andreas; Zonta, Andrea; Bertini, Enrico; Boltshauser, Eugen; Valente, Enza Maria

Cerebral Reorganization after Hemispherectomy: A DTI Study

AMERICAN JOURNAL OF NEURORADIOLOGY

IF3.7

2016-01-14

OAAI

Meoded, A.; Faria, A. V.; Hartman, A. L.; Jallo, G. I.; Mori, S.; Johnston, M. V.; Huisman, T. A. G. M.; Poretti, A.

Cystic cerebellar dysplasia and biallelic LAMA1 mutations: a lamininopathy associated with tics, obsessive compulsive traits and myopia due to cell adhesion and migration defects

JOURNAL OF MEDICAL GENETICS

IF3.7

2016-01-13

OAAI

Vilboux, Thierry; Malicdan, May Christine V.; Chang, Yun Min; Guo, Jennifer; Zerfas, Patricia M.; Stephen, Joshi; Cullinane, Andrew R.; Bryant, Joy; Fischer, Roxanne; Brooks, Brian P.; Zein, Wadih M.; Wiggs, Edythe A.; Zalewski, Christopher K.; Poretti, Andrea; Bryan, Melanie M.; Vemulapalli, Meghana; Mullikin, James C.; Kirby, Martha; Anderson, Stacie M.; Huizing, Marjan; Toro, Camilo; Gahl, William A.; Gunay-Aygun, Meral

Perinatal risk factors for distinguishing neonatal stroke from hypoxic-ischemic encephalopathy at the time of birth

AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY

IF8.4

2016-01-01

PREAI

Adami, Rebecca R.; Grundy, Maureen; Poretti, Andrea; Felling, Ryan; Lemmon, Monica; Graham, Ernest

研究方向