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Stamping method based on 3D printing and disposable napkin: Cheap production of paper analytical devices for alcohol determination in beverages aiming forensics and food control
Stamping method based on 3D printing and disposable napkin: Cheap production of paper analytical devices for alcohol determination in beverages aiming forensics and food control
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Stamping method based on 3D printing and disposable napkin: Cheap production of paper analytical devices for alcohol determination in beverages aiming forensics and food control

Caroline Nava Pinheiro, Amanda ; Souza Ferreira, Valdir ; Gabriel Lucca, Bruno

Microchemical journal, 2022-09, Vol.180, p.107604, Article 107604 [Periódico revisado por pares]

Elsevier B.V

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2
De novo mutations in HCN1 cause early infantile epileptic encephalopathy
De novo mutations in HCN1 cause early infantile epileptic encephalopathy
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De novo mutations in HCN1 cause early infantile epileptic encephalopathy

Nava, Caroline ; Dalle, Carine ; Rastetter, Agnès ; Striano, Pasquale ; de Kovel, Carolien G F ; Nabbout, Rima ; Cancès, Claude ; Ville, Dorothée ; Brilstra, Eva H ; Gobbi, Giuseppe ; Raffo, Emmanuel ; Bouteiller, Delphine ; Marie, Yannick ; Trouillard, Oriane ; Robbiano, Angela ; Keren, Boris ; Agher, Dahbia ; Roze, Emmanuel ; Lesage, Suzanne ; Nicolas, Aude ; Brice, Alexis ; Baulac, Michel ; Vogt, Cornelia ; El Hajj, Nady ; Schneider, Eberhard ; Suls, Arvid ; Weckhuysen, Sarah ; Gormley, Padhraig ; Lehesjoki, Anna-Elina ; De Jonghe, Peter ; Helbig, Ingo ; Baulac, Stéphanie ; Zara, Federico ; Koeleman, Bobby P C ; Haaf, Thomas ; LeGuern, Eric ; Depienne, Christel

Nature genetics, 2014-06, Vol.46 (6), p.640-645 [Periódico revisado por pares]

United States: Nature Publishing Group

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3
Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X
Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X
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Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X

Leitão, Elsa ; Schröder, Christopher ; Parenti, Ilaria ; Dalle, Carine ; Rastetter, Agnès ; Kühnel, Theresa ; Kuechler, Alma ; Kaya, Sabine ; Gérard, Bénédicte ; Schaefer, Elise ; Nava, Caroline ; Drouot, Nathalie ; Engel, Camille ; Piard, Juliette ; Duban-Bedu, Bénédicte ; Villard, Laurent ; Stegmann, Alexander P A ; Vanhoutte, Els K ; Verdonschot, Job A J ; Kaiser, Frank J ; Tran Mau-Them, Frédéric ; Scala, Marcello ; Striano, Pasquale ; Frints, Suzanna G M ; Argilli, Emanuela ; Sherr, Elliott H ; Elder, Fikret ; Buratti, Julien ; Keren, Boris ; Mignot, Cyril ; Héron, Delphine ; Mandel, Jean-Louis ; Gecz, Jozef ; Kalscheuer, Vera M ; Horsthemke, Bernhard ; Piton, Amélie ; Depienne, Christel

Nature communications, 2022-11, Vol.13 (1), p.6570-6570, Article 6570 [Periódico revisado por pares]

England: Nature Publishing Group

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4
De Novo Mutations in YWHAG Cause Early-Onset Epilepsy
De Novo Mutations in YWHAG Cause Early-Onset Epilepsy
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De Novo Mutations in YWHAG Cause Early-Onset Epilepsy

Guella, Ilaria ; McKenzie, Marna B. ; Evans, Daniel M. ; Buerki, Sarah E. ; Toyota, Eric B. ; Van Allen, Margot I. ; Adam, Shelin ; Boelman, Cyrus ; Bolbocean, Corneliu ; Candido, Tara ; Eydoux, Patrice ; Horvath, Gabriella ; Huh, Linda ; Nelson, Tanya N. ; Sinclair, Graham ; van Karnebeek, Clara ; Vercauteren, Suzanne ; Suri, Mohnish ; Elmslie, Frances ; Simon, Marleen E.H. ; van Gassen, Koen L.I. ; Héron, Delphine ; Keren, Boris ; Nava, Caroline ; Connolly, Mary B. ; Demos, Michelle ; Farrer, Matthew J.

American journal of human genetics, 2017-08, Vol.101 (2), p.300-310 [Periódico revisado por pares]

United States: Elsevier Inc

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5
A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode
A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode
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A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode

Marafi, Dana ; Kozar, Nina ; Duan, Ruizhi ; Bradley, Stephen ; Yokochi, Kenji ; Al Mutairi, Fuad ; Saadi, Nebal Waill ; Whalen, Sandra ; Brunet, Theresa ; Kotzaeridou, Urania ; Choukair, Daniela ; Keren, Boris ; Nava, Caroline ; Kato, Mitsuhiro ; Arai, Hiroshi ; Froukh, Tawfiq ; Faqeih, Eissa Ali ; AlAsmari, Ali M. ; Saleh, Mohammed M. ; Pinto e Vairo, Filippo ; Pichurin, Pavel N. ; Klee, Eric W. ; Schmitz, Christopher T. ; Grochowski, Christopher M. ; Mitani, Tadahiro ; Herman, Isabella ; Calame, Daniel G. ; Fatih, Jawid M. ; Du, Haowei ; Coban-Akdemir, Zeynep ; Pehlivan, Davut ; Jhangiani, Shalini N. ; Gibbs, Richard A. ; Miyatake, Satoko ; Matsumoto, Naomichi ; Wagstaff, Laura J. ; Posey, Jennifer E. ; Lupski, James R. ; Meijer, Dies ; Wagner, Matias

American journal of human genetics, 2022-09, Vol.109 (9), p.1713-1723 [Periódico revisado por pares]

United States: Elsevier Inc

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6
GM3 synthase deficiency in non-Amish patients
GM3 synthase deficiency in non-Amish patients
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GM3 synthase deficiency in non-Amish patients

Heide, Solveig ; Jacquemont, Marie-Line ; Cheillan, David ; Renouil, Michel ; Tallot, Marilyn ; Schwartz, Charles E. ; Miquel, Juliette ; Bintner, Marc ; Rodriguez, Diana ; Darcel, Françoise ; Buratti, Julien ; Haye, Damien ; Passemard, Sandrine ; Gras, Domitille ; Perrin, Laurence ; Capri, Yline ; Gérard, Bénédicte ; Piton, Amélie ; Keren, Boris ; Thauvin-Robinet, Christel ; Duffourd, Yannis ; Faivre, Laurence ; Poe, Charlotte ; Pervillé, Anne ; Héron, Delphine ; Thévenon, Julien ; Arnaud, Lionel ; LeGuern, Eric ; La Selva, Lorita ; Vetro, Annalisa ; Guerrini, Renzo ; Nava, Caroline ; Mignot, Cyril

Genetics in medicine, 2022-02, Vol.24 (2), p.492-498 [Periódico revisado por pares]

United States: Elsevier Inc

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7
Human Pluripotent Stem Cell-derived Cortical Neurons for High Throughput Medication Screening in Autism: A Proof of Concept Study in SHANK3 Haploinsufficiency Syndrome
Human Pluripotent Stem Cell-derived Cortical Neurons for High Throughput Medication Screening in Autism: A Proof of Concept Study in SHANK3 Haploinsufficiency Syndrome
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Human Pluripotent Stem Cell-derived Cortical Neurons for High Throughput Medication Screening in Autism: A Proof of Concept Study in SHANK3 Haploinsufficiency Syndrome

Darville, Hélène ; Poulet, Aurélie ; Rodet-Amsellem, Frédérique ; Chatrousse, Laure ; Pernelle, Julie ; Boissart, Claire ; Héron, Delphine ; Nava, Caroline ; Perrier, Anselme ; Jarrige, Margot ; Cogé, Francis ; Millan, Mark J. ; Bourgeron, Thomas ; Peschanski, Marc ; Delorme, Richard ; Benchoua, Alexandra

EBioMedicine, 2016-07, Vol.9 (C), p.293-305 [Periódico revisado por pares]

Netherlands: Elsevier B.V

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8
Copy Number Variations Found in Patients with a Corpus Callosum Abnormality and Intellectual Disability
Copy Number Variations Found in Patients with a Corpus Callosum Abnormality and Intellectual Disability
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Copy Number Variations Found in Patients with a Corpus Callosum Abnormality and Intellectual Disability

Heide, Solveig, MD ; Keren, Boris, MD, PhD ; Billette de Villemeur, Thierry, MD, PhD ; Chantot-Bastaraud, Sandra, MD ; Depienne, Christel, PhD ; Nava, Caroline, MD, PhD ; Mignot, Cyril, MD, PhD ; Jacquette, Aurélia, MD ; Fonteneau, Eric ; Lejeune, Elodie ; Mach, Corinne ; Marey, Isabelle, MD ; Whalen, Sandra, MD ; Lacombe, Didier, MD, PhD ; Naudion, Sophie, MD ; Rooryck, Caroline, MD, PhD ; Toutain, Annick, MD, PhD ; Caignec, Cédric Le, MD, PhD ; Haye, Damien, MD ; Olivier-Faivre, Laurence, MD, PhD ; Masurel-Paulet, Alice, MD ; Thauvin-Robinet, Christel, MD, PhD ; Lesne, Fabien, CRA ; Faudet, Anne, CRA ; Ville, Dorothée, MD ; des Portes, Vincent, MD, PhD ; Sanlaville, Damien, MD, PhD ; Siffroi, Jean-Pierre, MD, PhD ; Moutard, Marie-Laure, MD ; Héron, Delphine, MD

The Journal of pediatrics, 2017-06, Vol.185, p.160-166.e1 [Periódico revisado por pares]

United States: Elsevier Inc

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9
Early-onset encephalopathy with paroxysmal movement disorders and epileptic seizures without hemiplegic attacks: About three children with novel ATP1A3 mutations
Early-onset encephalopathy with paroxysmal movement disorders and epileptic seizures without hemiplegic attacks: About three children with novel ATP1A3 mutations
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Early-onset encephalopathy with paroxysmal movement disorders and epileptic seizures without hemiplegic attacks: About three children with novel ATP1A3 mutations

Marzin, Pauline ; Mignot, Cyril ; Dorison, Nathalie ; Dufour, Louis ; Ville, Dorothée ; Kaminska, Anna ; Panagiotakaki, Eleni ; Dienpendaele, Anne-Sophie ; Penniello, Marie-José ; Nougues, Marie-Christine ; Keren, Boris ; Depienne, Christel ; Nava, Caroline ; Milh, Mathieu ; Villard, Laurent ; Richelme, Christian ; Rivier, Clotilde ; Whalen, Sandra ; Heron, Delphine ; Lesca, Gaëtan ; Doummar, Diane

Brain & development (Tokyo. 1979), 2018-10, Vol.40 (9), p.768-774 [Periódico revisado por pares]

Netherlands: Elsevier B.V

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10
De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay
De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay
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De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay

Hiatt, Susan M ; Neu, Matthew B ; Ramaker, Ryne C ; Hardigan, Andrew A ; Prokop, Jeremy W ; Hancarova, Miroslava ; Prchalova, Darina ; Havlovicova, Marketa ; Prchal, Jan ; Stranecky, Viktor ; Yim, Dwight K C ; Powis, Zöe ; Keren, Boris ; Nava, Caroline ; Mignot, Cyril ; Rio, Marlene ; Revah-Politi, Anya ; Hemati, Parisa ; Stong, Nicholas ; Iglesias, Alejandro D ; Suchy, Sharon F ; Willaert, Rebecca ; Wentzensen, Ingrid M ; Wheeler, Patricia G ; Brick, Lauren ; Kozenko, Mariya ; Hurst, Anna C E ; Wheless, James W ; Lacassie, Yves ; Myers, Richard M ; Barsh, Gregory S ; Sedlacek, Zdenek ; Cooper, Gregory M Copenhaver, Gregory P.

PLoS genetics, 2018-11, Vol.14 (11), p.e1007671-e1007671 [Periódico revisado por pares]

United States: Public Library of Science

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