VETRO, ANNALISA
VETRO, ANNALISA
Neuroscienze, Psicologia, Area del Farmaco e Salute del Bambino (NEUROFARBA)
A novel SLC5A6 homozygous variant in a family with multivitamin-dependent neurometabolic disorder: Phenotype expansion and long-term follow-up
2023 Martino Montomoli , Annalisa Vetro , Flavia Tubili , Maria Alice Donati , Marta Daniotti , Francesca Pochiero , Francesca Rivieri , Salvatore Girlando , Renzo Guerrini
Additive effect of DNAJC30 and NDUFA9 mutations causing Leigh syndrome
2023 Claudia Nesti , Chiara Ticci , Anna Rubegni , Stefano Doccini , Giusi Scaturro , Annalisa Vetro , Renzo Guerrini , Filippo M Santorelli , Elena Procopio
Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders
2024 Kaiyrzhanov, Rauan; Rad, Aboulfazl; Lin, Sheng-Jia; Bertoli-Avella, Aida; Kallemeijn, Wouter W; Godwin, Annie; Zaki, Maha S; Huang, Kevin; Lau, Tracy; Petree, Cassidy; Efthymiou, Stephanie; Karimiani, Ehsan Ghayoor; Hempel, Maja; Normand, Elizabeth A; Rudnik-Schöneborn, Sabine; Schatz, Ulrich A; Baggelaar, Marc P; Ilyas, Muhammad; Sultan, Tipu; Alvi, Javeria Raza; Ganieva, Manizha; Fowler, Ben; Aanicai, Ruxandra; Tayfun, Gulsen Akay; Al Saman, Abdulaziz; Alswaid, Abdulrahman; Amiri, Nafise; Asilova, Nilufar; Shotelersuk, Vorasuk; Yeetong, Patra; Azam, Matloob; Babaei, Meisam; Monajemi, Gholamreza Bahrami; Mohammadi, Pouria; Samie, Saeed; Banu, Selina Husna; Pinto Basto, Jorge; Kortüm, Fanny; Bauer, Mislen; Bauer, Peter; Beetz, Christian; Garshasbi, Masoud; Issa, Awatif Hameed; Eyaid, Wafaa; Ahmed, Hind; Hashemi, Narges; Hassanpour, Kazem; Herman, Isabella; Ibrohimov, Sherozjon; Abdul-Majeed, Ban A; Imdad, Maria; Isrofilov, Maksudjon; Kaiyal, Qassem; Khan, Suliman; Kirmse, Brian; Koster, Janet; Lourenço, Charles Marques; Mitani, Tadahiro; Moldovan, Oana; Murphy, David; Najafi, Maryam; Pehlivan, Davut; Rocha, Maria Eugenia; Salpietro, Vincenzo; Schmidts, Miriam; Shalata, Adel; Mahroum, Mohammad; Talbeya, Jawabreh Kassem; Taylor, Robert W; Vazquez, Dayana; Vetro, Annalisa; Waterham, Hans R; Zaman, Mashaya; Schrader, Tina A; Chung, Wendy K; Guerrini, Renzo; Lupski, James R; Gleeson, Joseph; Suri, Mohnish; Jamshidi, Yalda; Bhatia, Kailash P; Vona, Barbara; Schrader, Michael; Severino, Mariasavina; Guille, Matthew; Tate, Edward W; Varshney, Gaurav K; Houlden, Henry; Maroofian, Reza
Bi-allelic variants in TM2D3 cause a severe syndromic neurodevelopmental disorder associated with endoplasmic reticulum and mitochondrial abnormalities
2025 Gabillard-Lefort, Claudie; Martinez, Caroline Silveira; Gueguen, Naïg; Desquiret-Dumas, Valérie; Wery, Méline; Legoff, Louis; Guimier, Anne; Rondeau, Sophie; Barcia, Giulia; Barnerias, Christine; Cogne, Benjamin; Besnard, Thomas; Lorino, Elsa; Douglas, Jessica; Bodamer, Olaf; Vetro, Annalisa; Guerrini, Renzo; Balestrini, Simona; Conti, Valerio; Siri, Laura; Chevrollier, Arnaud; Bris, Céline; Colin, Estelle; Procaccio, Vincent; Prunier-Mirebeau, Delphine; Lenaers, Guy; Khiati, Salim; Nizon, Mathilde; Baris, Olivier R
Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies
2021 Dworschak, Gabriel C.; Punetha, Jaya; Kalanithy, Jeshurun C.; Mingardo, Enrico; Erdem, Haktan B.; Akdemir, Zeynep C.; Karaca, Ender; Mitani, Tadahiro; Marafi, Dana; Fatih, Jawid M.; Jhangiani, Shalini N.; Hunter, Jill V.; Dakal, Tikam Chand; Dhabhai, Bhanupriya; Dabbagh, Omar; Alsaif, Hessa S.; Alkuraya, Fowzan S.; Maroofian, Reza; Houlden, Henry; Efthymiou, Stephanie; Dominik, Natalia; Salpietro, Vincenzo; Sultan, Tipu; Haider, Shahzad; Bibi, Farah; Thiele, Holger; Hoefele, Julia; Riedhammer, Korbinian M.; Wagner, Matias; Guella, Ilaria; Demos, Michelle; Keren, Boris; Buratti, Julien; Charles, Perrine; Nava, Caroline; Heron, Delphine; Heide, Solveig; Valkanas, Elise; Waddell, Leigh B.; Jones, Kristi J.; Oates, Emily C.; Cooper, Sandra T.; MacArthur, Daniel; Syrbe, Steffen; Ziegler, Andreas; Platzer, Konrad; Okur, Volkan; Chung, Wendy K.; O'Shea, Sarah A.; Alcalay, Roy; Fahn, Stanley; Mark, Paul R.; Guerrini, Renzo; Vetro, Annalisa; Hudson, Beth; Schnur, Rhonda E.; Hoganson, George E.; Burton, Jennifer E.; McEntagart, Meriel; Lindenberg, Tobias; Yilmaz, Oeznur; Odermatt, Benjamin; Pehlivan, Davut; Posey, Jennifer E.; Lupski, James R.; Reutter, Heiko
Clustered variants in the 5′ coding region of TRA2B cause a distinctive neurodevelopmental syndrome
2023 Francis Ramond , Caroline Dalgliesh , Mona Grimmel , Oded Wechsberg , Annalisa Vetro , Renzo Guerrini , David FitzPatrick , Rebecca L Poole , Marine Lebrun , Allan Bayat , Ute Grasshoff , Miriam Bertrand , Dennis Witt , Peter D Turnpenny , Víctor Faundes , Lorena Santa María , Carolina Mendoza Fuentes , Paulina Mabe , Shaun A Hussain , Sureni V Mullegama , Erin Torti , Barbara Oehl-Jaschkowitz , Lina Basel Salmon , Naama Orenstein , Noa Ruhrman Shahar , Ofir Hagari , Lily Bazak , Sabine Hoffjan , Carlos E Prada , Tobias Haack , David J Elliott
Defining and expanding the phenotype of QARS-associated developmental epileptic encephalopathy
2020 Johannesen KM, Mitter D, Janowski R, Roth C, Toulouse J, Poulat AL, Ville DM, Chatron N, Brilstra E, Geleijns K, Born AP, McLean S, Nugent K, Baynam G, Poulton C, Dreyer L, Gration D, Schulz S, Dieckmann A, Helbig KL, Merkenschlager A, Jamra R, Finck A, Gardella E, Hjalgrim H, Mirzaa G, Brancati F, Bierhals T, Denecke J, Hempel M, Lemke JR, Rubboli G, Muschke P, Guerrini R, Vetro A, Niessing D, Lesca G, Møller RS
Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome
2021 Weerts, Marjolein J. A.; Lanko, Kristina; Guzman-Vega, Francisco J.; Jackson, Adam; Ramakrishnan, Reshmi; Cardona-Londono, Kelly J.; Pena-Guerra, Karla A.; van Bever, Yolande; van Paassen, Barbara W.; Kievit, Anneke; van Slegtenhorst, Marjon; Allen, Nicholas M.; Kehoe, Caroline M.; Robinson, Hannah K.; Pang, Lewis; Banu, Selina H.; Zaman, Mashaya; Efthymiou, Stephanie; Houlden, Henry; Jarvela, Irma; Lauronen, Leena; Maatta, Tuomo; Schrauwen, Isabelle; Leal, Suzanne M.; Ruivenkamp, Claudia A. L.; Barge-Schaapveld, Daniela Q. C. M.; Peeters-Scholte, Cacha M. P. C. D.; Galehdari, Hamid; Mazaheri, Neda; Sisodiya, Sanjay M.; Harrison, Victoria; Sun, Angela; Thies, Jenny; Pedroza, Luis Alberto; Lara-Taranchenko, Yana; Chinn, Ivan K.; Lupski, James R.; Garza-Flores, Alexandra; McGlothlin, Jeffery; Yang, Lin; Huang, Shaoping; Wang, Xiaodong; Jewett, Tamison; Rosso, Gretchen; Lin, Xi; Mohammed, Shehla; Merritt, J. Lawrence, II; Mirzaa, Ghayda M.; Timms, Andrew E.; Scheck, Joshua; Elting, Mariet W.; Polstra, Abeltje M.; Schenck, Lauren; Ruzhnikov, Maura R. Z.; Vetro, Annalisa; Montomoli, Martino; Guerrini, Renzo; Koboldt, Daniel C.; Mosher, Theresa Mihalic; Pastore, Matthew T.; McBride, Kim L.; Peng, Jing; Pan, Zou; Willemsen, Marjolein; Koning, Susanne; Turnpenny, Peter D.; de Vries, Bert B. A.; Gilissen, Christian; Pfundt, Rolph; Lees, Melissa; Braddock, Stephen R.; Klemp, Kara C.; Vansenne, Fleur; van Gijn, Marielle E.; Quindipan, Catherine; Deardorff, Matthew A.; Hamm, J. Austin; Putnam, Abbey M.; Baud, Rebecca; Walsh, Laurence; Lynch, Sally A.; Baptista, Julia; Person, Richard E.; Monaghan, Kristin G.; Crunk, Amy; Keller-Ramey, Jennifer; Reich, Adi; Elloumi, Houda Zghal; Alders, Marielle; Kerkhof, Jennifer; McConkey, Haley; Haghshenas, Sadegheh; Maroofian, Reza; Sadikovic, Bekim; Banka, Siddharth; Arold, Stefan T.; Barakat, Tahsin Stefan
De novo CLTC variants are associated with a variable phenotype from mild to severe intellectualdisability, microcephaly, hypoplasia of the corpus callosum, and epilepsy
2020 Nabais Sá MJ, Venselaar H, Wiel L, Trimouille A, Lasseaux E, Naudion S, Lacombe D, Piton A, Vincent-Delorme C, Zweier C, Reis A,Trollmann R, Ruiz A, Gabau E, Vetro A, Guerrini R, Bakhtiari S, Kruer MC, Amor DJ, Cooper MS, Bijlsma EK, Barakat TS, van Dooren MF, van Slegtenhorst M, Pfundt R, Gilissen C, Willemsen MA, de Vries BBA, de Brouwer APM, Koolen DA
De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25new individuals and review of the literature
2020 Nambot S, Faivre L, Mirzaa G, Thevenon J, Bruel AL, Mosca-Boidron AL, Masurel-Paulet A, Goldenberg A, Le Meur N,Charollais A, Mignot C, Petit F, Rossi M, Metreau J, Layet V, Amram D, Boute-Bénéjean O, Bhoj E, Cousin MA, Kruisselbrink TM, Lanpher BC, Klee EW, Fiala E, Grange DK, Meschino WS, Hiatt SM, Cooper GM, Olivié H, Smith WE, Dumas M,Lehman A; CAUSES Study, Inglese C, Nizon M, Guerrini R, Vetro A, Kaplan ES, Miramar D, Van Gils J, Fergelot P, Bodamer O, Herkert JC, Pajusalu S, Õunap K, Filiano JJ, Smol T, Piton A, Gérard B, Chantot-Bastaraud S, Bienvenu T, Li D, Juusola J, Devriendt K,Bilan F, Poé C, Chevarin M, Jouan T, Tisserant E, Rivière JB, Tran Mau-Them F, Philippe C, Duffourd Y, Dobyns WB, Hevner R,Thauvin-Robinet C
Diagnostic application of a capture based NGS test for the concurrent detection of variants in sequence and copy number as well as LOH
2017 Vetro, A.; Goidin, D.; Lesende, I.; Limongelli, I.; Ranzani, G. N.; Novara, F.; Bonaglia, M. C.; Rinaldi, B.; Franchi, F.; Manolakos, E.; Lonardo, F.; Scarano, F.; Scarano, G.; Costantino, L.; Tedeschi, S.; Giglio, S.; Zuffardi, O.
Dominant ARF3 variants disrupt Golgi integrity and cause a neurodevelopmental disorder recapitulated in zebrafish
2022 Fasano, Giulia; Muto, Valentina; Radio, Francesca Clementina; Venditti, Martina; Mosaddeghzadeh, Niloufar; Coppola, Simona; Paradisi, Graziamaria; Zara, Erika; Bazgir, Farhad; Ziegler, Alban; Chillemi, Giovanni; Bertuccini, Lucia; Tinari, Antonella; Vetro, Annalisa; Pantaleoni, Francesca; Pizzi, Simone; Conti, Libenzio Adrian; Petrini, Stefania; Bruselles, Alessandro; Prandi, Ingrid Guarnetti; Mancini, Cecilia; Chandramouli, Balasubramanian; Barth, Magalie; Bris, Céline; Milani, Donatella; Selicorni, Angelo; Macchiaiolo, Marina; Gonfiantini, Michaela V; Bartuli, Andrea; Mariani, Riccardo; Curry, Cynthia J; Guerrini, Renzo; Slavotinek, Anne; Iascone, Maria; Dallapiccola, Bruno; Ahmadian, Mohammad Reza; Lauri, Antonella; Tartaglia, Marco
Early infantile epileptic-dyskinetic encephalopathy due to biallelic PIGP mutations
2020 Vetro A, Pisano T, Chiaro S, Procopio E, Guerra A, Parrini E, Mei D, Virdò S, Mangone G, Azzari C, Guerrini R.
Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17458 subjects
2020 Niestroj L.-M.; Perez-Palma E.; Howrigan D.P.; Zhou Y.; Cheng F.; Saarentaus E.; Nurnberg P.; Stevelink R.; Daly M.J.; Palotie A.; Lal D.; Feng Y.-C.A.; Abbott L.E.; Tashman K.; Cerrato F.; Churchhouse C.; Gupta N.; Neale B.M.; Berkovic S.F.; Lerche H.; Goldstein D.B.; Lowenstein D.H.; Cavalleri G.L.; Cossette P.; Cotsapas C.; De Jonghe P.; Dixon-Salazar T.; Guerrini R.; Hakonarson H.; Heinzen E.L.; Helbig I.; Kwan P.; Marson A.G.; Petrovski S.; Kamalakaran S.; Sisodiya S.M.; Stewart R.; Weckhuysen S.; Depondt C.; Dlugos D.J.; Scheffer I.E.; Striano P.; Freyer C.; Krause R.; May P.; McKenna K.; Regan B.M.; Leu C.; Bennett C.A.; Bellows S.T.; Johns E.M.C.; MacDonald A.; Shilling H.; Burgess R.; Weckhuysen D.; Bahlo M.; O'Brien T.J.; Todaro M.; Stamberger H.; Andrade D.M.; Sadoway T.R.; Mo K.; Krestel H.; Gallati S.; Papacostas S.S.; Kousiappa I.; Tanteles G.A.; Sterbova K.; Vlckova M.; Sedlackova L.; Lassuthova P.; Martin K.; Rosenow F.; Reif P.S.; Knake S.; Kunz W.S.; Zsurka G.; Elger C.E.; Bauer J.; Rademacher M.; Pendziwiat M.; Muhle H.; Rademacher A.; Van Baalen A.; Von Spiczak S.; Stephani U.; Afawi Z.; Korczyn A.D.; Kanaan M.; Canavati C.; Kurlemann G.; Muller-Schluter K.; Kluger G.; Hausler M.; Blatt I.; Lemke J.R.; Krey I.; Weber Y.G.; Wolking S.; Becker F.; Hengsbach C.; Rau S.; Maisch A.F.; Steinhoff B.J.; Schulze-Bonhage A.; Schubert-Bast S.; Schreiber H.; Borggrafe I.; Schankin C.J.; Mayer T.; Korinthenberg R.; Brockmann K.; Dennig D.; Madeleyn R.; Kalviainen R.; Auvinen P.; Saarela A.; Linnankivi T.; Lehesjoki A.-E.; Rees M.I.; Chung S.-K.; Pickrell W.O.; Powell R.; Schneider N.; Balestrini S.; Zagaglia S.; Braatz V.; Johnson M.R.; Auce P.; Sills G.J.; Baum L.W.; Sham P.C.; Cherny S.S.; Lui C.H.T.; Barisic N.; Delanty N.; Doherty C.P.; Shukralla A.; McCormack M.; El-Naggar H.; Canafoglia L.; Franceschetti S.; Castellotti B.; Granata T.; Zara F.; Iacomino M.; Madia F.; Vari M.S.; Mancardi M.M.; Salpietro V.; Bisulli F.; Tinuper P.; Licchetta L.; Pippucci T.; Stipa C.; Muccioli L.; Minardi R.; Gambardella A.; Labate A.; Annesi G.; Manna L.; Gagliardi M.; Parrini E.; Mei D.; Vetro A.; Bianchini C.; Montomoli M.; Doccini V.; Marini C.; Suzuki T.; Inoue Y.; Yamakawa K.; Tumiene B.; Mameniskiene R.; Utkus A.; Praninskiene R.; Grikiniene J.; Samaitiene R.; Sadleir L.G.; King C.; Mountier E.; Caglayan S.H.; Arslan M.; Yapici Z.; Yis U.; Topaloglu P.; Kara B.; Turkdogan D.; Gundogdu-Eken A.; Bebek N.; Ugur-Iseri S.; Baykan B.; Salman B.; Haryanyan G.; Yucesan E.; Kesim Y.; Ozkara C.; Sheidley B.R.; Shain C.; Poduri A.; Buono R.J.; Ferraro T.N.; Sperling M.R.; Lo W.; Privitera M.; French J.A.; Schachter S.; Kuzniecky R.I.; Devinsky O.; Hegde M.; Khankhanian P.; Helbig K.L.; Ellis C.A.; Spalletta G.; Piras F.; Piras F.; Gili T.; Ciullo V.
Erratum: Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals (The American Journal of Human Genetics (2021) 108(6) (965–982), (S0002929721001403), (10.1016/j.ajhg.2021.04.009))
2021 Motelow J.E.; Povysil G.; Dhindsa R.S.; Stanley K.E.; Allen A.S.; Feng Y.-C.A.; Howrigan D.P.; Abbott L.E.; Tashman K.; Cerrato F.; Cusick C.; Singh T.; Heyne H.; Byrnes A.E.; Churchhouse C.; Watts N.; Solomonson M.; Lal D.; Gupta N.; Neale B.M.; Cavalleri G.L.; Cossette P.; Cotsapas C.; De Jonghe P.; Dixon-Salazar T.; Guerrini R.; Hakonarson H.; Heinzen E.L.; Helbig I.; Kwan P.; Marson A.G.; Petrovski S.; Kamalakaran S.; Sisodiya S.M.; Stewart R.; Weckhuysen S.; Depondt C.; Dlugos D.J.; Scheffer I.E.; Striano P.; Freyer C.; Krause R.; May P.; McKenna K.; Regan B.M.; Bennett C.A.; Leu C.; Leech S.L.; O'Brien T.J.; Todaro M.; Stamberger H.; Andrade D.M.; Ali Q.Z.; Sadoway T.R.; Krestel H.; Schaller A.; Papacostas S.S.; Kousiappa I.; Tanteles G.A.; Christou Y.; Sterbova K.; Vlckova M.; Sedlackova L.; Lassuthova P.; Klein K.M.; Rosenow F.; Reif P.S.; Knake S.; Neubauer B.A.; Zimprich F.; Feucht M.; Reinthaler E.M.; Kunz W.S.; Zsurka G.; Surges R.; Baumgartner T.; von Wrede R.; Pendziwiat M.; Muhle H.; Rademacher A.; van Baalen A.; von Spiczak S.; Stephani U.; Afawi Z.; Korczyn A.D.; Kanaan M.; Canavati C.; Kurlemann G.; Muller-Schluter K.; Kluger G.; Hausler M.; Blatt I.; Lemke J.R.; Krey I.; Weber Y.G.; Wolking S.; Becker F.; Lauxmann S.; Bosselmann C.; Kegele J.; Hengsbach C.; Rau S.; Steinhoff B.J.; Schulze-Bonhage A.; Borggrafe I.; Schankin C.J.; Schubert-Bast S.; Schreiber H.; Mayer T.; Korinthenberg R.; Brockmann K.; Wolff M.; Dennig D.; Madeleyn R.; Kalviainen R.; Saarela A.; Timonen O.; Linnankivi T.; Lehesjoki A.-E.; Rheims S.; Lesca G.; Ryvlin P.; Maillard L.; Valton L.; Derambure P.; Bartolomei F.; Hirsch E.; Michel V.; Chassoux F.; Rees M.I.; Chung S.-K.; Pickrell W.O.; Powell R.; Baker M.D.; Fonferko-Shadrach B.; Lawthom C.; Anderson J.; Schneider N.; Balestrini S.; Zagaglia S.; Braatz V.; Johnson M.R.; Auce P.; Sills G.J.; Baum L.W.; Sham P.C.; Cherny S.S.; Lui C.H.T.; Delanty N.; Doherty C.P.; Shukralla A.; El-Naggar H.; Widdess-Walsh P.; Barisic N.; Canafoglia L.; Franceschetti S.; Castellotti B.; Granata T.; Ragona F.; Zara F.; Iacomino M.; Riva A.; Madia F.; Vari M.S.; Salpietro V.; Scala M.; Mancardi M.M.; Nobili L.; Amadori E.; Giacomini T.; Bisulli F.; Pippucci T.; Licchetta L.; Minardi R.; Tinuper P.; Muccioli L.; Mostacci B.; Gambardella A.; Labate A.; Annesi G.; Manna L.; Gagliardi M.; Parrini E.; Mei D.; Vetro A.; Bianchini C.; Montomoli M.; Doccini V.; Barba C.; Hirose S.; Ishii A.; Suzuki T.; Inoue Y.; Yamakawa K.; Beydoun A.; Nasreddine W.; Khoueiry Zgheib N.; Tumiene B.; Utkus A.; Sadleir L.G.; King C.; Caglayan S.H.; Arslan M.; Yapici Z.; Topaloglu P.; Kara B.; Yis U.; Turkdogan D.; Gundogdu-Eken A.; Bebek N.; Ugur-Iseri S.; Baykan B.; Salman B.; Haryanyan G.; Yucesan E.; Kesim Y.; Ozkara C.; Tsai M.-H.; Ho C.-J.; Lin C.-H.; Lin K.-L.; Chou I.-J.; Poduri A.; Shiedley B.R.; Shain C.; Noebels J.L.; Goldman A.; Busch R.M.; Jehi L.; Najm I.M.; Ferguson L.; Khoury J.; Glauser T.A.; Clark P.O.; Buono R.J.; Ferraro T.N.; Sperling M.R.; Lo W.; Privitera M.; French J.A.; Schachter S.; Kuzniecky R.I.; Devinsky O.; Hegde M.; Greenberg D.A.; Ellis C.A.; Goldberg E.; Helbig K.L.; Cosico M.; Vaidiswaran P.; Fitch E.; Berkovic S.F.; Lerche H.; Lowenstein D.H.; Goldstein D.B.
GM3 synthase deficiency in non-Amish patients
2022 Solveig Heide , Marie-Line Jacquemont , David Cheillan , Michel Renouil , Marilyn Tallot , Charles E Schwartz , Juliette Miquel , Marc Bintner , Diana Rodriguez , Françoise Darcel , Julien Buratti , Damien Haye , Sandrine Passemard , Domitille Gras , Laurence Perrin , Yline Capri , Bénédicte Gérard , Amélie Piton , Boris Keren , Christel Thauvin-Robinet , Yannis Duffourd , Laurence Faivre , Charlotte Poe , Anne Pervillé , Delphine Héron Julien Thévenon , Lionel Arnaud , Eric LeGuern , Lorita La Selva , Annalisa Vetro , Renzo Guerrini , Caroline Nava , Cyril Mignot
Molecular and Phenotypic Characterization of the RORB-Related Disorder
2024 Gokce-Samar, Zeynep; Vetro, Annalisa; De Bellescize, Julitta; Pisano, Tiziana; Monteiro, Laloe; Penaud, Noémie; Korff, Christian M; Fluss, Joel; Marini, Carla; Cesaroni, Elisabetta; Alvarez, Blanca Mercedes; Sanlaville, Damien; Chatron, Nicolas; Arzimanoglou, Alexis A; Labalme, Audrey; Cuddapah, Vishnu A; Ruggiero, Sarah M; Lecoquierre, Francois; Nicolas, Gael; Marie, Guerrot Anne; Lebas, Axel; Testard, Herve O; Helbig, Katherine L; Ruiz, Anna; Ngoh, Adeline; Kurian, Manju A; Reid, Kimberley; Spaull, Robert; Joset, Pascal; Ramantani, Georgia; Steindl, Katharina; Krenn, Martin; Gerstl, Lucia; Vieker, Silvia; Craiu, Dana; Pendziwiat, Manuela; Haldeman-Englert, Chad; Kanivets, Ilya; Romanova, Irina; Rajan, Deepa S; Rosenfeld, Jill A; Au, Margaret; Grand, Katheryn; Graham, John; Isapof, Arnaud; Villeneuve, Nathalie; Smol, Thomas; Caumes, Roseline; Zacher, Pia; Neuser, Sonja; Tinschert, Sigrid; Platzer, Konrad; Bartolomaeus, Tobias; Mohnke, Ines; Radtke, Maximilian; Jamra, Rami Abou; Helbig, Ingo; Jansen, Floortje E; Koop, Klaas; Rudolf, Gabrielle; Küry, Sebastien; Courchet, Julien; Guerrini, Renzo; Lesca, Gaetan
Monogenic variants in dystonia: an exome-wide sequencing study
2020 Zech, Michael; Jech, Robert; Boesch, Sylvia; Škorvánek, Matej; Weber, Sandrina; Wagner, Matias; Zhao, Chen; Jochim, Angela; Necpál, Ján; Dincer, Yasemin; Vill, Katharina; Distelmaier, Felix; Stoklosa, Malgorzata; Krenn, Martin; Grunwald, Stephan; Bock-Bierbaum, Tobias; Fečíková, Anna; Havránková, Petra; Roth, Jan; Příhodová, Iva; Adamovičová, Miriam; Ulmanová, Olga; Bechyně, Karel; Danhofer, Pavlína; Veselý, Branislav; Haň, Vladimír; Pavelekova, Petra; Gdovinová, Zuzana; Mantel, Tobias; Meindl, Tobias; Sitzberger, Alexandra; Schröder, Sebastian; Blaschek, Astrid; Roser, Timo; Bonfert, Michaela V; Haberlandt, Edda; Plecko, Barbara; Leineweber, Birgit; Berweck, Steffen; Herberhold, Thomas; Langguth, Berthold; Švantnerová, Jana; Minár, Michal; Ramos-Rivera, Gonzalo Alonso; Wojcik, Monica H; Pajusalu, Sander; Õunap, Katrin; Schatz, Ulrich A; Pölsler, Laura; Milenkovic, Ivan; Laccone, Franco; Pilshofer, Veronika; Colombo, Roberto; Patzer, Steffi; Iuso, Arcangela; Vera, Julia; Troncoso, Monica; Fang, Fang; Prokisch, Holger; Wilbert, Friederike; Eckenweiler, Matthias; Graf, Elisabeth; Westphal, Dominik S; Riedhammer, Korbinian M; Brunet, Theresa; Alhaddad, Bader; Berutti, Riccardo; Strom, Tim M; Hecht, Martin; Baumann, Matthias; Wolf, Marc; Telegrafi, Aida; Person, Richard E; Zamora, Francisca Millan; Henderson, Lindsay B; Weise, David; Musacchio, Thomas; Volkmann, Jens; Szuto, Anna; Becker, Jessica; Cremer, Kirsten; Sycha, Thomas; Zimprich, Fritz; Kraus, Verena; Makowski, Christine; Gonzalez-Alegre, Pedro; Bardakjian, Tanya M; Ozelius, Laurie J; Vetro, Annalisa; Guerrini, Renzo; Maier, Esther; Borggraefe, Ingo; Kuster, Alice; Wortmann, Saskia B; Hackenberg, Annette; Steinfeld, Robert; Assmann, Birgit; Staufner, Christian; Opladen, Thomas; Růžička, Evžen; Cohn, Ronald D; Dyment, David; Chung, Wendy K; Engels, Hartmut; Ceballos-Baumann, Andres; Ploski, Rafal; Daumke, Oliver; Haslinger, Bernhard; Mall, Volker; Oexle, Konrad; Winkelmann, Juliane
Multiple genomic copy number variants associated with periventricular nodular heterotopia indicate extreme genetic heterogeneity
2019 Cellini E.; Vetro A.; Conti V.; Marini C.; Doccini V.; Clementella C.; Parrini E.; Giglio S.; Della Monica M.; Fichera M.; Musumeci S.A.; Guerrini R.
Mutations in the exocyst component EXOC2 cause severe defects in human brain development
2020 Van Bergen, Nicole J; Ahmed, Syed Mukhtar; Collins, Felicity; Cowley, Mark; Vetro, Annalisa; Dale, Russell C; Hock, Daniella H; de Caestecker, Christian; Menezes, Minal; Massey, Sean; Ho, Gladys; Pisano, Tiziana; Glover, Seana; Gusman, Jovanka; Stroud, David A; Dinger, Marcel; Guerrini, Renzo; Macara, Ian G; Christodoulou, John
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| A novel SLC5A6 homozygous variant in a family with multivitamin-dependent neurometabolic disorder: Phenotype expansion and long-term follow-up | 2023 | Martino Montomoli , Annalisa Vetro , Flavia Tubili , Maria Alice Donati , Marta Daniotti , Francesca Pochiero , Francesca Rivieri , Salvatore Girlando , Renzo Guerrini | |
| Additive effect of DNAJC30 and NDUFA9 mutations causing Leigh syndrome | 2023 | Claudia Nesti , Chiara Ticci , Anna Rubegni , Stefano Doccini , Giusi Scaturro , Annalisa Vetro , Renzo Guerrini , Filippo M Santorelli , Elena Procopio | |
| Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders | 2024 | Kaiyrzhanov, Rauan; Rad, Aboulfazl; Lin, Sheng-Jia; Bertoli-Avella, Aida; Kallemeijn, Wouter W; Godwin, Annie; Zaki, Maha S; Huang, Kevin; Lau, Tracy; Petree, Cassidy; Efthymiou, Stephanie; Karimiani, Ehsan Ghayoor; Hempel, Maja; Normand, Elizabeth A; Rudnik-Schöneborn, Sabine; Schatz, Ulrich A; Baggelaar, Marc P; Ilyas, Muhammad; Sultan, Tipu; Alvi, Javeria Raza; Ganieva, Manizha; Fowler, Ben; Aanicai, Ruxandra; Tayfun, Gulsen Akay; Al Saman, Abdulaziz; Alswaid, Abdulrahman; Amiri, Nafise; Asilova, Nilufar; Shotelersuk, Vorasuk; Yeetong, Patra; Azam, Matloob; Babaei, Meisam; Monajemi, Gholamreza Bahrami; Mohammadi, Pouria; Samie, Saeed; Banu, Selina Husna; Pinto Basto, Jorge; Kortüm, Fanny; Bauer, Mislen; Bauer, Peter; Beetz, Christian; Garshasbi, Masoud; Issa, Awatif Hameed; Eyaid, Wafaa; Ahmed, Hind; Hashemi, Narges; Hassanpour, Kazem; Herman, Isabella; Ibrohimov, Sherozjon; Abdul-Majeed, Ban A; Imdad, Maria; Isrofilov, Maksudjon; Kaiyal, Qassem; Khan, Suliman; Kirmse, Brian; Koster, Janet; Lourenço, Charles Marques; Mitani, Tadahiro; Moldovan, Oana; Murphy, David; Najafi, Maryam; Pehlivan, Davut; Rocha, Maria Eugenia; Salpietro, Vincenzo; Schmidts, Miriam; Shalata, Adel; Mahroum, Mohammad; Talbeya, Jawabreh Kassem; Taylor, Robert W; Vazquez, Dayana; Vetro, Annalisa; Waterham, Hans R; Zaman, Mashaya; Schrader, Tina A; Chung, Wendy K; Guerrini, Renzo; Lupski, James R; Gleeson, Joseph; Suri, Mohnish; Jamshidi, Yalda; Bhatia, Kailash P; Vona, Barbara; Schrader, Michael; Severino, Mariasavina; Guille, Matthew; Tate, Edward W; Varshney, Gaurav K; Houlden, Henry; Maroofian, Reza | |
| Bi-allelic variants in TM2D3 cause a severe syndromic neurodevelopmental disorder associated with endoplasmic reticulum and mitochondrial abnormalities | 2025 | Gabillard-Lefort, Claudie; Martinez, Caroline Silveira; Gueguen, Naïg; Desquiret-Dumas, Valérie; Wery, Méline; Legoff, Louis; Guimier, Anne; Rondeau, Sophie; Barcia, Giulia; Barnerias, Christine; Cogne, Benjamin; Besnard, Thomas; Lorino, Elsa; Douglas, Jessica; Bodamer, Olaf; Vetro, Annalisa; Guerrini, Renzo; Balestrini, Simona; Conti, Valerio; Siri, Laura; Chevrollier, Arnaud; Bris, Céline; Colin, Estelle; Procaccio, Vincent; Prunier-Mirebeau, Delphine; Lenaers, Guy; Khiati, Salim; Nizon, Mathilde; Baris, Olivier R | |
| Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies | 2021 | Dworschak, Gabriel C.; Punetha, Jaya; Kalanithy, Jeshurun C.; Mingardo, Enrico; Erdem, Haktan B.; Akdemir, Zeynep C.; Karaca, Ender; Mitani, Tadahiro; Marafi, Dana; Fatih, Jawid M.; Jhangiani, Shalini N.; Hunter, Jill V.; Dakal, Tikam Chand; Dhabhai, Bhanupriya; Dabbagh, Omar; Alsaif, Hessa S.; Alkuraya, Fowzan S.; Maroofian, Reza; Houlden, Henry; Efthymiou, Stephanie; Dominik, Natalia; Salpietro, Vincenzo; Sultan, Tipu; Haider, Shahzad; Bibi, Farah; Thiele, Holger; Hoefele, Julia; Riedhammer, Korbinian M.; Wagner, Matias; Guella, Ilaria; Demos, Michelle; Keren, Boris; Buratti, Julien; Charles, Perrine; Nava, Caroline; Heron, Delphine; Heide, Solveig; Valkanas, Elise; Waddell, Leigh B.; Jones, Kristi J.; Oates, Emily C.; Cooper, Sandra T.; MacArthur, Daniel; Syrbe, Steffen; Ziegler, Andreas; Platzer, Konrad; Okur, Volkan; Chung, Wendy K.; O'Shea, Sarah A.; Alcalay, Roy; Fahn, Stanley; Mark, Paul R.; Guerrini, Renzo; Vetro, Annalisa; Hudson, Beth; Schnur, Rhonda E.; Hoganson, George E.; Burton, Jennifer E.; McEntagart, Meriel; Lindenberg, Tobias; Yilmaz, Oeznur; Odermatt, Benjamin; Pehlivan, Davut; Posey, Jennifer E.; Lupski, James R.; Reutter, Heiko | |
| Clustered variants in the 5′ coding region of TRA2B cause a distinctive neurodevelopmental syndrome | 2023 | Francis Ramond , Caroline Dalgliesh , Mona Grimmel , Oded Wechsberg , Annalisa Vetro , Renzo Guerrini , David FitzPatrick , Rebecca L Poole , Marine Lebrun , Allan Bayat , Ute Grasshoff , Miriam Bertrand , Dennis Witt , Peter D Turnpenny , Víctor Faundes , Lorena Santa María , Carolina Mendoza Fuentes , Paulina Mabe , Shaun A Hussain , Sureni V Mullegama , Erin Torti , Barbara Oehl-Jaschkowitz , Lina Basel Salmon , Naama Orenstein , Noa Ruhrman Shahar , Ofir Hagari , Lily Bazak , Sabine Hoffjan , Carlos E Prada , Tobias Haack , David J Elliott | |
| Defining and expanding the phenotype of QARS-associated developmental epileptic encephalopathy | 2020 | Johannesen KM, Mitter D, Janowski R, Roth C, Toulouse J, Poulat AL, Ville DM, Chatron N, Brilstra E, Geleijns K, Born AP, McLean S, Nugent K, Baynam G, Poulton C, Dreyer L, Gration D, Schulz S, Dieckmann A, Helbig KL, Merkenschlager A, Jamra R, Finck A, Gardella E, Hjalgrim H, Mirzaa G, Brancati F, Bierhals T, Denecke J, Hempel M, Lemke JR, Rubboli G, Muschke P, Guerrini R, Vetro A, Niessing D, Lesca G, Møller RS | |
| Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome | 2021 | Weerts, Marjolein J. A.; Lanko, Kristina; Guzman-Vega, Francisco J.; Jackson, Adam; Ramakrishnan, Reshmi; Cardona-Londono, Kelly J.; Pena-Guerra, Karla A.; van Bever, Yolande; van Paassen, Barbara W.; Kievit, Anneke; van Slegtenhorst, Marjon; Allen, Nicholas M.; Kehoe, Caroline M.; Robinson, Hannah K.; Pang, Lewis; Banu, Selina H.; Zaman, Mashaya; Efthymiou, Stephanie; Houlden, Henry; Jarvela, Irma; Lauronen, Leena; Maatta, Tuomo; Schrauwen, Isabelle; Leal, Suzanne M.; Ruivenkamp, Claudia A. L.; Barge-Schaapveld, Daniela Q. C. M.; Peeters-Scholte, Cacha M. P. C. D.; Galehdari, Hamid; Mazaheri, Neda; Sisodiya, Sanjay M.; Harrison, Victoria; Sun, Angela; Thies, Jenny; Pedroza, Luis Alberto; Lara-Taranchenko, Yana; Chinn, Ivan K.; Lupski, James R.; Garza-Flores, Alexandra; McGlothlin, Jeffery; Yang, Lin; Huang, Shaoping; Wang, Xiaodong; Jewett, Tamison; Rosso, Gretchen; Lin, Xi; Mohammed, Shehla; Merritt, J. Lawrence, II; Mirzaa, Ghayda M.; Timms, Andrew E.; Scheck, Joshua; Elting, Mariet W.; Polstra, Abeltje M.; Schenck, Lauren; Ruzhnikov, Maura R. Z.; Vetro, Annalisa; Montomoli, Martino; Guerrini, Renzo; Koboldt, Daniel C.; Mosher, Theresa Mihalic; Pastore, Matthew T.; McBride, Kim L.; Peng, Jing; Pan, Zou; Willemsen, Marjolein; Koning, Susanne; Turnpenny, Peter D.; de Vries, Bert B. A.; Gilissen, Christian; Pfundt, Rolph; Lees, Melissa; Braddock, Stephen R.; Klemp, Kara C.; Vansenne, Fleur; van Gijn, Marielle E.; Quindipan, Catherine; Deardorff, Matthew A.; Hamm, J. Austin; Putnam, Abbey M.; Baud, Rebecca; Walsh, Laurence; Lynch, Sally A.; Baptista, Julia; Person, Richard E.; Monaghan, Kristin G.; Crunk, Amy; Keller-Ramey, Jennifer; Reich, Adi; Elloumi, Houda Zghal; Alders, Marielle; Kerkhof, Jennifer; McConkey, Haley; Haghshenas, Sadegheh; Maroofian, Reza; Sadikovic, Bekim; Banka, Siddharth; Arold, Stefan T.; Barakat, Tahsin Stefan | |
| De novo CLTC variants are associated with a variable phenotype from mild to severe intellectualdisability, microcephaly, hypoplasia of the corpus callosum, and epilepsy | 2020 | Nabais Sá MJ, Venselaar H, Wiel L, Trimouille A, Lasseaux E, Naudion S, Lacombe D, Piton A, Vincent-Delorme C, Zweier C, Reis A,Trollmann R, Ruiz A, Gabau E, Vetro A, Guerrini R, Bakhtiari S, Kruer MC, Amor DJ, Cooper MS, Bijlsma EK, Barakat TS, van Dooren MF, van Slegtenhorst M, Pfundt R, Gilissen C, Willemsen MA, de Vries BBA, de Brouwer APM, Koolen DA | |
| De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25new individuals and review of the literature | 2020 | Nambot S, Faivre L, Mirzaa G, Thevenon J, Bruel AL, Mosca-Boidron AL, Masurel-Paulet A, Goldenberg A, Le Meur N,Charollais A, Mignot C, Petit F, Rossi M, Metreau J, Layet V, Amram D, Boute-Bénéjean O, Bhoj E, Cousin MA, Kruisselbrink TM, Lanpher BC, Klee EW, Fiala E, Grange DK, Meschino WS, Hiatt SM, Cooper GM, Olivié H, Smith WE, Dumas M,Lehman A; CAUSES Study, Inglese C, Nizon M, Guerrini R, Vetro A, Kaplan ES, Miramar D, Van Gils J, Fergelot P, Bodamer O, Herkert JC, Pajusalu S, Õunap K, Filiano JJ, Smol T, Piton A, Gérard B, Chantot-Bastaraud S, Bienvenu T, Li D, Juusola J, Devriendt K,Bilan F, Poé C, Chevarin M, Jouan T, Tisserant E, Rivière JB, Tran Mau-Them F, Philippe C, Duffourd Y, Dobyns WB, Hevner R,Thauvin-Robinet C | |
| Diagnostic application of a capture based NGS test for the concurrent detection of variants in sequence and copy number as well as LOH | 2017 | Vetro, A.; Goidin, D.; Lesende, I.; Limongelli, I.; Ranzani, G. N.; Novara, F.; Bonaglia, M. C.; Rinaldi, B.; Franchi, F.; Manolakos, E.; Lonardo, F.; Scarano, F.; Scarano, G.; Costantino, L.; Tedeschi, S.; Giglio, S.; Zuffardi, O. | |
| Dominant ARF3 variants disrupt Golgi integrity and cause a neurodevelopmental disorder recapitulated in zebrafish | 2022 | Fasano, Giulia; Muto, Valentina; Radio, Francesca Clementina; Venditti, Martina; Mosaddeghzadeh, Niloufar; Coppola, Simona; Paradisi, Graziamaria; Zara, Erika; Bazgir, Farhad; Ziegler, Alban; Chillemi, Giovanni; Bertuccini, Lucia; Tinari, Antonella; Vetro, Annalisa; Pantaleoni, Francesca; Pizzi, Simone; Conti, Libenzio Adrian; Petrini, Stefania; Bruselles, Alessandro; Prandi, Ingrid Guarnetti; Mancini, Cecilia; Chandramouli, Balasubramanian; Barth, Magalie; Bris, Céline; Milani, Donatella; Selicorni, Angelo; Macchiaiolo, Marina; Gonfiantini, Michaela V; Bartuli, Andrea; Mariani, Riccardo; Curry, Cynthia J; Guerrini, Renzo; Slavotinek, Anne; Iascone, Maria; Dallapiccola, Bruno; Ahmadian, Mohammad Reza; Lauri, Antonella; Tartaglia, Marco | |
| Early infantile epileptic-dyskinetic encephalopathy due to biallelic PIGP mutations | 2020 | Vetro A, Pisano T, Chiaro S, Procopio E, Guerra A, Parrini E, Mei D, Virdò S, Mangone G, Azzari C, Guerrini R. | |
| Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17458 subjects | 2020 | Niestroj L.-M.; Perez-Palma E.; Howrigan D.P.; Zhou Y.; Cheng F.; Saarentaus E.; Nurnberg P.; Stevelink R.; Daly M.J.; Palotie A.; Lal D.; Feng Y.-C.A.; Abbott L.E.; Tashman K.; Cerrato F.; Churchhouse C.; Gupta N.; Neale B.M.; Berkovic S.F.; Lerche H.; Goldstein D.B.; Lowenstein D.H.; Cavalleri G.L.; Cossette P.; Cotsapas C.; De Jonghe P.; Dixon-Salazar T.; Guerrini R.; Hakonarson H.; Heinzen E.L.; Helbig I.; Kwan P.; Marson A.G.; Petrovski S.; Kamalakaran S.; Sisodiya S.M.; Stewart R.; Weckhuysen S.; Depondt C.; Dlugos D.J.; Scheffer I.E.; Striano P.; Freyer C.; Krause R.; May P.; McKenna K.; Regan B.M.; Leu C.; Bennett C.A.; Bellows S.T.; Johns E.M.C.; MacDonald A.; Shilling H.; Burgess R.; Weckhuysen D.; Bahlo M.; O'Brien T.J.; Todaro M.; Stamberger H.; Andrade D.M.; Sadoway T.R.; Mo K.; Krestel H.; Gallati S.; Papacostas S.S.; Kousiappa I.; Tanteles G.A.; Sterbova K.; Vlckova M.; Sedlackova L.; Lassuthova P.; Martin K.; Rosenow F.; Reif P.S.; Knake S.; Kunz W.S.; Zsurka G.; Elger C.E.; Bauer J.; Rademacher M.; Pendziwiat M.; Muhle H.; Rademacher A.; Van Baalen A.; Von Spiczak S.; Stephani U.; Afawi Z.; Korczyn A.D.; Kanaan M.; Canavati C.; Kurlemann G.; Muller-Schluter K.; Kluger G.; Hausler M.; Blatt I.; Lemke J.R.; Krey I.; Weber Y.G.; Wolking S.; Becker F.; Hengsbach C.; Rau S.; Maisch A.F.; Steinhoff B.J.; Schulze-Bonhage A.; Schubert-Bast S.; Schreiber H.; Borggrafe I.; Schankin C.J.; Mayer T.; Korinthenberg R.; Brockmann K.; Dennig D.; Madeleyn R.; Kalviainen R.; Auvinen P.; Saarela A.; Linnankivi T.; Lehesjoki A.-E.; Rees M.I.; Chung S.-K.; Pickrell W.O.; Powell R.; Schneider N.; Balestrini S.; Zagaglia S.; Braatz V.; Johnson M.R.; Auce P.; Sills G.J.; Baum L.W.; Sham P.C.; Cherny S.S.; Lui C.H.T.; Barisic N.; Delanty N.; Doherty C.P.; Shukralla A.; McCormack M.; El-Naggar H.; Canafoglia L.; Franceschetti S.; Castellotti B.; Granata T.; Zara F.; Iacomino M.; Madia F.; Vari M.S.; Mancardi M.M.; Salpietro V.; Bisulli F.; Tinuper P.; Licchetta L.; Pippucci T.; Stipa C.; Muccioli L.; Minardi R.; Gambardella A.; Labate A.; Annesi G.; Manna L.; Gagliardi M.; Parrini E.; Mei D.; Vetro A.; Bianchini C.; Montomoli M.; Doccini V.; Marini C.; Suzuki T.; Inoue Y.; Yamakawa K.; Tumiene B.; Mameniskiene R.; Utkus A.; Praninskiene R.; Grikiniene J.; Samaitiene R.; Sadleir L.G.; King C.; Mountier E.; Caglayan S.H.; Arslan M.; Yapici Z.; Yis U.; Topaloglu P.; Kara B.; Turkdogan D.; Gundogdu-Eken A.; Bebek N.; Ugur-Iseri S.; Baykan B.; Salman B.; Haryanyan G.; Yucesan E.; Kesim Y.; Ozkara C.; Sheidley B.R.; Shain C.; Poduri A.; Buono R.J.; Ferraro T.N.; Sperling M.R.; Lo W.; Privitera M.; French J.A.; Schachter S.; Kuzniecky R.I.; Devinsky O.; Hegde M.; Khankhanian P.; Helbig K.L.; Ellis C.A.; Spalletta G.; Piras F.; Piras F.; Gili T.; Ciullo V. | |
| Erratum: Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals (The American Journal of Human Genetics (2021) 108(6) (965–982), (S0002929721001403), (10.1016/j.ajhg.2021.04.009)) | 2021 | Motelow J.E.; Povysil G.; Dhindsa R.S.; Stanley K.E.; Allen A.S.; Feng Y.-C.A.; Howrigan D.P.; Abbott L.E.; Tashman K.; Cerrato F.; Cusick C.; Singh T.; Heyne H.; Byrnes A.E.; Churchhouse C.; Watts N.; Solomonson M.; Lal D.; Gupta N.; Neale B.M.; Cavalleri G.L.; Cossette P.; Cotsapas C.; De Jonghe P.; Dixon-Salazar T.; Guerrini R.; Hakonarson H.; Heinzen E.L.; Helbig I.; Kwan P.; Marson A.G.; Petrovski S.; Kamalakaran S.; Sisodiya S.M.; Stewart R.; Weckhuysen S.; Depondt C.; Dlugos D.J.; Scheffer I.E.; Striano P.; Freyer C.; Krause R.; May P.; McKenna K.; Regan B.M.; Bennett C.A.; Leu C.; Leech S.L.; O'Brien T.J.; Todaro M.; Stamberger H.; Andrade D.M.; Ali Q.Z.; Sadoway T.R.; Krestel H.; Schaller A.; Papacostas S.S.; Kousiappa I.; Tanteles G.A.; Christou Y.; Sterbova K.; Vlckova M.; Sedlackova L.; Lassuthova P.; Klein K.M.; Rosenow F.; Reif P.S.; Knake S.; Neubauer B.A.; Zimprich F.; Feucht M.; Reinthaler E.M.; Kunz W.S.; Zsurka G.; Surges R.; Baumgartner T.; von Wrede R.; Pendziwiat M.; Muhle H.; Rademacher A.; van Baalen A.; von Spiczak S.; Stephani U.; Afawi Z.; Korczyn A.D.; Kanaan M.; Canavati C.; Kurlemann G.; Muller-Schluter K.; Kluger G.; Hausler M.; Blatt I.; Lemke J.R.; Krey I.; Weber Y.G.; Wolking S.; Becker F.; Lauxmann S.; Bosselmann C.; Kegele J.; Hengsbach C.; Rau S.; Steinhoff B.J.; Schulze-Bonhage A.; Borggrafe I.; Schankin C.J.; Schubert-Bast S.; Schreiber H.; Mayer T.; Korinthenberg R.; Brockmann K.; Wolff M.; Dennig D.; Madeleyn R.; Kalviainen R.; Saarela A.; Timonen O.; Linnankivi T.; Lehesjoki A.-E.; Rheims S.; Lesca G.; Ryvlin P.; Maillard L.; Valton L.; Derambure P.; Bartolomei F.; Hirsch E.; Michel V.; Chassoux F.; Rees M.I.; Chung S.-K.; Pickrell W.O.; Powell R.; Baker M.D.; Fonferko-Shadrach B.; Lawthom C.; Anderson J.; Schneider N.; Balestrini S.; Zagaglia S.; Braatz V.; Johnson M.R.; Auce P.; Sills G.J.; Baum L.W.; Sham P.C.; Cherny S.S.; Lui C.H.T.; Delanty N.; Doherty C.P.; Shukralla A.; El-Naggar H.; Widdess-Walsh P.; Barisic N.; Canafoglia L.; Franceschetti S.; Castellotti B.; Granata T.; Ragona F.; Zara F.; Iacomino M.; Riva A.; Madia F.; Vari M.S.; Salpietro V.; Scala M.; Mancardi M.M.; Nobili L.; Amadori E.; Giacomini T.; Bisulli F.; Pippucci T.; Licchetta L.; Minardi R.; Tinuper P.; Muccioli L.; Mostacci B.; Gambardella A.; Labate A.; Annesi G.; Manna L.; Gagliardi M.; Parrini E.; Mei D.; Vetro A.; Bianchini C.; Montomoli M.; Doccini V.; Barba C.; Hirose S.; Ishii A.; Suzuki T.; Inoue Y.; Yamakawa K.; Beydoun A.; Nasreddine W.; Khoueiry Zgheib N.; Tumiene B.; Utkus A.; Sadleir L.G.; King C.; Caglayan S.H.; Arslan M.; Yapici Z.; Topaloglu P.; Kara B.; Yis U.; Turkdogan D.; Gundogdu-Eken A.; Bebek N.; Ugur-Iseri S.; Baykan B.; Salman B.; Haryanyan G.; Yucesan E.; Kesim Y.; Ozkara C.; Tsai M.-H.; Ho C.-J.; Lin C.-H.; Lin K.-L.; Chou I.-J.; Poduri A.; Shiedley B.R.; Shain C.; Noebels J.L.; Goldman A.; Busch R.M.; Jehi L.; Najm I.M.; Ferguson L.; Khoury J.; Glauser T.A.; Clark P.O.; Buono R.J.; Ferraro T.N.; Sperling M.R.; Lo W.; Privitera M.; French J.A.; Schachter S.; Kuzniecky R.I.; Devinsky O.; Hegde M.; Greenberg D.A.; Ellis C.A.; Goldberg E.; Helbig K.L.; Cosico M.; Vaidiswaran P.; Fitch E.; Berkovic S.F.; Lerche H.; Lowenstein D.H.; Goldstein D.B. | |
| GM3 synthase deficiency in non-Amish patients | 2022 | Solveig Heide , Marie-Line Jacquemont , David Cheillan , Michel Renouil , Marilyn Tallot , Charles E Schwartz , Juliette Miquel , Marc Bintner , Diana Rodriguez , Françoise Darcel , Julien Buratti , Damien Haye , Sandrine Passemard , Domitille Gras , Laurence Perrin , Yline Capri , Bénédicte Gérard , Amélie Piton , Boris Keren , Christel Thauvin-Robinet , Yannis Duffourd , Laurence Faivre , Charlotte Poe , Anne Pervillé , Delphine Héron Julien Thévenon , Lionel Arnaud , Eric LeGuern , Lorita La Selva , Annalisa Vetro , Renzo Guerrini , Caroline Nava , Cyril Mignot | |
| Molecular and Phenotypic Characterization of the RORB-Related Disorder | 2024 | Gokce-Samar, Zeynep; Vetro, Annalisa; De Bellescize, Julitta; Pisano, Tiziana; Monteiro, Laloe; Penaud, Noémie; Korff, Christian M; Fluss, Joel; Marini, Carla; Cesaroni, Elisabetta; Alvarez, Blanca Mercedes; Sanlaville, Damien; Chatron, Nicolas; Arzimanoglou, Alexis A; Labalme, Audrey; Cuddapah, Vishnu A; Ruggiero, Sarah M; Lecoquierre, Francois; Nicolas, Gael; Marie, Guerrot Anne; Lebas, Axel; Testard, Herve O; Helbig, Katherine L; Ruiz, Anna; Ngoh, Adeline; Kurian, Manju A; Reid, Kimberley; Spaull, Robert; Joset, Pascal; Ramantani, Georgia; Steindl, Katharina; Krenn, Martin; Gerstl, Lucia; Vieker, Silvia; Craiu, Dana; Pendziwiat, Manuela; Haldeman-Englert, Chad; Kanivets, Ilya; Romanova, Irina; Rajan, Deepa S; Rosenfeld, Jill A; Au, Margaret; Grand, Katheryn; Graham, John; Isapof, Arnaud; Villeneuve, Nathalie; Smol, Thomas; Caumes, Roseline; Zacher, Pia; Neuser, Sonja; Tinschert, Sigrid; Platzer, Konrad; Bartolomaeus, Tobias; Mohnke, Ines; Radtke, Maximilian; Jamra, Rami Abou; Helbig, Ingo; Jansen, Floortje E; Koop, Klaas; Rudolf, Gabrielle; Küry, Sebastien; Courchet, Julien; Guerrini, Renzo; Lesca, Gaetan | |
| Monogenic variants in dystonia: an exome-wide sequencing study | 2020 | Zech, Michael; Jech, Robert; Boesch, Sylvia; Škorvánek, Matej; Weber, Sandrina; Wagner, Matias; Zhao, Chen; Jochim, Angela; Necpál, Ján; Dincer, Yasemin; Vill, Katharina; Distelmaier, Felix; Stoklosa, Malgorzata; Krenn, Martin; Grunwald, Stephan; Bock-Bierbaum, Tobias; Fečíková, Anna; Havránková, Petra; Roth, Jan; Příhodová, Iva; Adamovičová, Miriam; Ulmanová, Olga; Bechyně, Karel; Danhofer, Pavlína; Veselý, Branislav; Haň, Vladimír; Pavelekova, Petra; Gdovinová, Zuzana; Mantel, Tobias; Meindl, Tobias; Sitzberger, Alexandra; Schröder, Sebastian; Blaschek, Astrid; Roser, Timo; Bonfert, Michaela V; Haberlandt, Edda; Plecko, Barbara; Leineweber, Birgit; Berweck, Steffen; Herberhold, Thomas; Langguth, Berthold; Švantnerová, Jana; Minár, Michal; Ramos-Rivera, Gonzalo Alonso; Wojcik, Monica H; Pajusalu, Sander; Õunap, Katrin; Schatz, Ulrich A; Pölsler, Laura; Milenkovic, Ivan; Laccone, Franco; Pilshofer, Veronika; Colombo, Roberto; Patzer, Steffi; Iuso, Arcangela; Vera, Julia; Troncoso, Monica; Fang, Fang; Prokisch, Holger; Wilbert, Friederike; Eckenweiler, Matthias; Graf, Elisabeth; Westphal, Dominik S; Riedhammer, Korbinian M; Brunet, Theresa; Alhaddad, Bader; Berutti, Riccardo; Strom, Tim M; Hecht, Martin; Baumann, Matthias; Wolf, Marc; Telegrafi, Aida; Person, Richard E; Zamora, Francisca Millan; Henderson, Lindsay B; Weise, David; Musacchio, Thomas; Volkmann, Jens; Szuto, Anna; Becker, Jessica; Cremer, Kirsten; Sycha, Thomas; Zimprich, Fritz; Kraus, Verena; Makowski, Christine; Gonzalez-Alegre, Pedro; Bardakjian, Tanya M; Ozelius, Laurie J; Vetro, Annalisa; Guerrini, Renzo; Maier, Esther; Borggraefe, Ingo; Kuster, Alice; Wortmann, Saskia B; Hackenberg, Annette; Steinfeld, Robert; Assmann, Birgit; Staufner, Christian; Opladen, Thomas; Růžička, Evžen; Cohn, Ronald D; Dyment, David; Chung, Wendy K; Engels, Hartmut; Ceballos-Baumann, Andres; Ploski, Rafal; Daumke, Oliver; Haslinger, Bernhard; Mall, Volker; Oexle, Konrad; Winkelmann, Juliane | |
| Multiple genomic copy number variants associated with periventricular nodular heterotopia indicate extreme genetic heterogeneity | 2019 | Cellini E.; Vetro A.; Conti V.; Marini C.; Doccini V.; Clementella C.; Parrini E.; Giglio S.; Della Monica M.; Fichera M.; Musumeci S.A.; Guerrini R. | |
| Mutations in the exocyst component EXOC2 cause severe defects in human brain development | 2020 | Van Bergen, Nicole J; Ahmed, Syed Mukhtar; Collins, Felicity; Cowley, Mark; Vetro, Annalisa; Dale, Russell C; Hock, Daniella H; de Caestecker, Christian; Menezes, Minal; Massey, Sean; Ho, Gladys; Pisano, Tiziana; Glover, Seana; Gusman, Jovanka; Stroud, David A; Dinger, Marcel; Guerrini, Renzo; Macara, Ian G; Christodoulou, John |