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New case of the Richieri-Costa/Guion-Almeida syndrome
New case of the Richieri-Costa/Guion-Almeida syndrome
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New case of the Richieri-Costa/Guion-Almeida syndrome

Natacci, F. ; Pierri, M. ; Rossetti, M. ; Sala, M. ; Larizza, L.

American journal of medical genetics, 1999-04, Vol.83 (5), p.419-421

New York: Wiley Subscription Services, Inc., A Wiley Company

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2
Retinal transduction profiles by high-capacity viral vectors
Retinal transduction profiles by high-capacity viral vectors
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Retinal transduction profiles by high-capacity viral vectors

Puppo, A ; Cesi, G ; Marrocco, E ; Piccolo, P ; Jacca, S ; Shayakhmetov, D M ; Parks, R J ; Davidson, B L ; Colloca, S ; Brunetti-Pierri, N ; Ng, P ; Donofrio, G ; Auricchio, A

Gene therapy, 2014-10, Vol.21 (10), p.855-865 [Periódico revisado por pares]

England: Nature Publishing Group

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3
SLC25A10 biallelic mutations in intractable epileptic encephalopathy with complex I deficiency
SLC25A10 biallelic mutations in intractable epileptic encephalopathy with complex I deficiency
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SLC25A10 biallelic mutations in intractable epileptic encephalopathy with complex I deficiency

Punzi, Giuseppe ; Porcelli, Vito ; Ruggiu, Matteo ; Hossain, Md F ; Menga, Alessio ; Scarcia, Pasquale ; Castegna, Alessandra ; Gorgoglione, Ruggiero ; Pierri, Ciro L ; Laera, Luna ; Lasorsa, Francesco M ; Paradies, Eleonora ; Pisano, Isabella ; Marobbio, Carlo M T ; Lamantea, Eleonora ; Ghezzi, Daniele ; Tiranti, Valeria ; Giannattasio, Sergio ; Donati, Maria A ; Guerrini, Renzo ; Palmieri, Luigi ; Palmieri, Ferdinando ; De Grassi, Anna

Human molecular genetics, 2018-02, Vol.27 (3), p.499-504 [Periódico revisado por pares]

England: Oxford University Press

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4
Paralog Studies Augment Gene Discovery: DDX and DHX Genes
Paralog Studies Augment Gene Discovery: DDX and DHX Genes
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Paralog Studies Augment Gene Discovery: DDX and DHX Genes

Paine, Ingrid ; Posey, Jennifer E. ; Grochowski, Christopher M. ; Jhangiani, Shalini N. ; Rosenheck, Sarah ; Kleyner, Robert ; Marmorale, Taylor ; Yoon, Margaret ; Wang, Kai ; Robison, Reid ; Cappuccio, Gerarda ; Pinelli, Michele ; Magli, Adriano ; Coban Akdemir, Zeynep ; Hui, Joannie ; Yeung, Wai Lan ; Wong, Bibiana K.Y. ; Ortega, Lucia ; Bekheirnia, Mir Reza ; Bierhals, Tatjana ; Hempel, Maja ; Johannsen, Jessika ; Santer, René ; Aktas, Dilek ; Alikasifoglu, Mehmet ; Bozdogan, Sevcan ; Aydin, Hatip ; Karaca, Ender ; Bayram, Yavuz ; Ityel, Hadas ; Dorschner, Michael ; White, Janson J. ; Wilichowski, Ekkehard ; Wortmann, Saskia B. ; Casella, Erasmo B. ; Kitajima, Joao Paulo ; Kok, Fernando ; Monteiro, Fabiola ; Muzny, Donna M. ; Bamshad, Michael ; Gibbs, Richard A. ; Sutton, V. Reid ; Van Esch, Hilde ; Brunetti-Pierri, Nicola ; Hildebrandt, Friedhelm ; Brautbar, Ariel ; Van den Veyver, Ignatia B. ; Glass, Ian ; Lessel, Davor ; Lyon, Gholson J. ; Lupski, James R.

American journal of human genetics, 2019-08, Vol.105 (2), p.302-316 [Periódico revisado por pares]

United States: Elsevier Inc

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5
De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia
De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia
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De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia

Haijes, Hanneke A. ; Koster, Maria J.E. ; Rehmann, Holger ; Li, Dong ; Hakonarson, Hakon ; Cappuccio, Gerarda ; Hancarova, Miroslava ; Lehalle, Daphne ; Reardon, Willie ; Schaefer, G. Bradley ; Lehman, Anna ; van de Laar, Ingrid M.B.H. ; Tesselaar, Coranne D. ; Turner, Clesson ; Goldenberg, Alice ; Patrier, Sophie ; Thevenon, Julien ; Pinelli, Michele ; Brunetti-Pierri, Nicola ; Prchalová, Darina ; Havlovicová, Markéta ; Vlckova, Markéta ; Sedláček, Zdeněk ; Lopez, Elena ; Ragoussis, Vassilis ; Pagnamenta, Alistair T. ; Kini, Usha ; Vos, Harmjan R. ; van Es, Robert M. ; van Schaik, Richard F.M.A. ; van Essen, Ton A.J. ; Kibaek, Maria ; Taylor, Jenny C. ; Sullivan, Jennifer ; Shashi, Vandana ; Petrovski, Slave ; Fagerberg, Christina ; Martin, Donna M. ; van Gassen, Koen L.I. ; Pfundt, Rolph ; Falk, Marni J. ; McCormick, Elizabeth M. ; Timmers, H.T. Marc ; van Hasselt, Peter M.

American journal of human genetics, 2019-08, Vol.105 (2), p.283-301 [Periódico revisado por pares]

United States: Elsevier Inc

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6
Prevalence and Relevance of Pre-Existing Anti-Adeno-Associated Virus Immunity in the Context of Gene Therapy for Crigler-Najjar Syndrome
Prevalence and Relevance of Pre-Existing Anti-Adeno-Associated Virus Immunity in the Context of Gene Therapy for Crigler-Najjar Syndrome
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Prevalence and Relevance of Pre-Existing Anti-Adeno-Associated Virus Immunity in the Context of Gene Therapy for Crigler-Najjar Syndrome

Aronson, Sem J ; Veron, Philippe ; Collaud, Fanny ; Hubert, Aurélie ; Delahais, Virginie ; Honnet, Géraldine ; de Knegt, Robert J ; Junge, Norman ; Baumann, Ulrich ; Di Giorgio, Angelo ; D'Antiga, Lorenzo ; Ginocchio, Virginia M ; Brunetti-Pierri, Nicola ; Labrune, Philippe ; Beuers, Ulrich ; Bosma, Piter J ; Mingozzi, Federico

Human gene therapy, 2019-10, Vol.30 (10), p.1297-1305 [Periódico revisado por pares]

United States: Mary Ann Liebert, Inc

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7
Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis
Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis
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Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis

Magini, Pamela ; Smits, Daphne J. ; Vandervore, Laura ; Schot, Rachel ; Columbaro, Marta ; Kasteleijn, Esmee ; van der Ent, Mees ; Palombo, Flavia ; Lequin, Maarten H. ; Dremmen, Marjolein ; de Wit, Marie Claire Y. ; Severino, Mariasavina ; Divizia, Maria Teresa ; Striano, Pasquale ; Ordonez-Herrera, Natalia ; Alhashem, Amal ; Al Fares, Ahmed ; Al Ghamdi, Malak ; Rolfs, Arndt ; Bauer, Peter ; Demmers, Jeroen ; Verheijen, Frans W. ; Wilke, Martina ; van Slegtenhorst, Marjon ; van der Spek, Peter J. ; Seri, Marco ; Jansen, Anna C. ; Stottmann, Rolf W. ; Hufnagel, Robert B. ; Hopkin, Robert J. ; Aljeaid, Deema ; Wiszniewski, Wojciech ; Gawlinski, Pawel ; Laure-Kamionowska, Milena ; Alkuraya, Fowzan S. ; Akleh, Hanah ; Stanley, Valentina ; Musaev, Damir ; Gleeson, Joseph G. ; Zaki, Maha S. ; Brunetti-Pierri, Nicola ; Cappuccio, Gerarda ; Davidov, Bella ; Basel-Salmon, Lina ; Bazak, Lily ; Shahar, Noa Ruhrman ; Bertoli-Avella, Aida ; Mirzaa, Ghayda M. ; Dobyns, William B. ; Pippucci, Tommaso ; Fornerod, Maarten ; Mancini, Grazia M.S.

American journal of human genetics, 2019-10, Vol.105 (4), p.689-705 [Periódico revisado por pares]

United States: Elsevier Inc

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8
Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities
Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities
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Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

Patel, Ankita ; Brunetti-Pierri, Nicola ; Berg, Jonathan S ; Scaglia, Fernando ; Belmont, John ; Bacino, Carlos A ; Sahoo, Trilochan ; Lalani, Seema R ; Graham, Brett ; Lee, Brendan ; Shinawi, Marwan ; Shen, Joseph ; Kang, Sung-Hae L ; Pursley, Amber ; Lotze, Timothy ; Kennedy, Gail ; Lansky-Shafer, Susan ; Weaver, Christine ; Roeder, Elizabeth R ; Grebe, Theresa A ; Arnold, Georgianne L ; Hutchison, Terry ; Reimschisel, Tyler ; Amato, Stephen ; Geragthy, Michael T ; Innis, Jeffrey W ; Obersztyn, Ewa ; Nowakowska, Beata ; Rosengren, Sally S ; Bader, Patricia I ; Grange, Dorothy K ; Naqvi, Sayed ; Garnica, Adolfo D ; Bernes, Saunder M ; Fong, Chin-To ; Summers, Anne ; Walters, W David ; Lupski, James R ; Stankiewicz, Pawel ; Cheung, Sau Wai

Nature genetics, 2008-12, Vol.40 (12), p.1466-1471 [Periódico revisado por pares]

United States: Nature Publishing Group

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9
Lowry-Wood syndrome: further evidence of association with RNU4ATAC, and correlation between genotype and phenotype
Lowry-Wood syndrome: further evidence of association with RNU4ATAC, and correlation between genotype and phenotype
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Lowry-Wood syndrome: further evidence of association with RNU4ATAC, and correlation between genotype and phenotype

Shelihan, Ivan ; Ehresmann, Sophie ; Magnani, Cinzia ; Forzano, Francesca ; Baldo, Chiara ; Brunetti-Pierri, Nicola ; Campeau, Philippe M.

Human genetics, 2018-12, Vol.137 (11-12), p.905-909 [Periódico revisado por pares]

Berlin/Heidelberg: Springer Berlin Heidelberg

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10
Heterozygous RNF13 Gain-of-Function Variants Are Associated with Congenital Microcephaly, Epileptic Encephalopathy, Blindness, and Failure to Thrive
Heterozygous RNF13 Gain-of-Function Variants Are Associated with Congenital Microcephaly, Epileptic Encephalopathy, Blindness, and Failure to Thrive
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Heterozygous RNF13 Gain-of-Function Variants Are Associated with Congenital Microcephaly, Epileptic Encephalopathy, Blindness, and Failure to Thrive

Edvardson, Simon ; Nicolae, Claudia M. ; Noh, Grace J. ; Burton, Jennifer E. ; Punzi, Giuseppe ; Shaag, Avraham ; Bischetsrieder, Jessica ; De Grassi, Anna ; Pierri, Ciro Leonardo ; Elpeleg, Orly ; Moldovan, George-Lucian

American journal of human genetics, 2019-01, Vol.104 (1), p.179-185 [Periódico revisado por pares]

United States: Elsevier Inc

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