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1.

Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency.

Beck, David B; Petracovici, Ana; He, Chongsheng; Moore, Hannah W; Louie, Raymond J; Ansar, Muhammad; Douzgou, Sofia; Sithambaram, Sivagamy; Cottrell, Trudie; Santos-Cortez, Regie Lyn P; Prijoles, Eloise J; Bend, Renee; Keren, Boris; Mignot, Cyril; Nougues, Marie-Christine; Õunap, Katrin; Reimand, Tiia; Pajusalu, Sander; Zahid, Muhammad; Saqib, Muhammad Arif Nadeem; Buratti, Julien; Seaby, Eleanor G; McWalter, Kirsty; Telegrafi, Aida; Baldridge, Dustin; Shinawi, Marwan; Leal, Suzanne M; Schaefer, G Bradley; Stevenson, Roger E; Banka, Siddharth; Bonasio, Roberto; Fahrner, Jill A.

Am J Hum Genet; 106(2): 234-245, 2020 Feb 06.

Artigo em Inglês | MEDLINE | ID: mdl-31928709

2.

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

Helbig, Katherine L; Lauerer, Robert J; Bahr, Jacqueline C; Souza, Ivana A; Myers, Candace T; Uysal, Betül; Schwarz, Niklas; Gandini, Maria A; Huang, Sun; Keren, Boris; Mignot, Cyril; Afenjar, Alexandra; Billette de Villemeur, Thierry; Héron, Delphine; Nava, Caroline; Valence, Stéphanie; Buratti, Julien; Fagerberg, Christina R; Soerensen, Kristina P; Kibaek, Maria; Kamsteeg, Erik-Jan; Koolen, David A; Gunning, Boudewijn; Schelhaas, H Jurgen; Kruer, Michael C; Fox, Jordana; Bakhtiari, Somayeh; Jarrar, Randa; Padilla-Lopez, Sergio; Lindstrom, Kristin; Jin, Sheng Chih; Zeng, Xue; Bilguvar, Kaya; Papavasileiou, Antigone; Xing, Qinghe; Zhu, Changlian; Boysen, Katja; Vairo, Filippo; Lanpher, Brendan C; Klee, Eric W; Tillema, Jan-Mendelt; Payne, Eric T; Cousin, Margot A; Kruisselbrink, Teresa M; Wick, Myra J; Baker, Joshua; Haan, Eric; Smith, Nicholas; Sadeghpour, Azita; Davis, Erica E.

Am J Hum Genet; 103(5): 666-678, 2018 11 01.

Artigo em Inglês | MEDLINE | ID: mdl-30343943

3.

New evidence that biallelic loss of function in EEF1B2 gene leads to intellectual disability.

Larcher, Lise; Buratti, Julien; Héron-Longe, Bénédicte; Benzacken, Brigitte; Pipiras, Eva; Keren, Boris; Delahaye-Duriez, Andrée.

Clin Genet; 97(4): 639-643, 2020 Apr.

Artigo em Inglês | MEDLINE | ID: mdl-31845318

4.

Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature.

Torti, Erin; Keren, Boris; Palmer, Elizabeth E; Zhu, Zehua; Afenjar, Alexandra; Anderson, Ilse J; Andrews, Marisa V; Atkinson, Celia; Au, Margaret; Berry, Susan A; Bowling, Kevin M; Boyle, Jackie; Buratti, Julien; Cathey, Sara S; Charles, Perrine; Cogne, Benjamin; Courtin, Thomas; Escobar, Luis F; Finley, Sabra Ledare; Graham, John M; Grange, Dorothy K; Heron, Delphine; Hewson, Stacy; Hiatt, Susan M; Hibbs, Kathleen A; Jayakar, Parul; Kalsner, Louisa; Larcher, Lise; Lesca, Gaetan; Mark, Paul R; Miller, Kathryn; Nava, Caroline; Nizon, Mathilde; Pai, G Shashidhar; Pappas, John; Parsons, Gretchen; Payne, Katelyn; Putoux, Audrey; Rabin, Rachel; Sabatier, Isabelle; Shinawi, Marwan; Shur, Natasha; Skinner, Steven A; Valence, Stephanie; Warren, Hannah; Whalen, Sandra; Crunk, Amy; Douglas, Ganka; Monaghan, Kristin G; Person, Richard E.

Genet Med; 21(9): 2036-2042, 2019 09.

Artigo em Inglês | MEDLINE | ID: mdl-30739909

5.

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

Mignot, Cyril; McMahon, Aoife C; Bar, Claire; Campeau, Philippe M; Davidson, Claire; Buratti, Julien; Nava, Caroline; Jacquemont, Marie-Line; Tallot, Marilyn; Milh, Mathieu; Edery, Patrick; Marzin, Pauline; Barcia, Giulia; Barnerias, Christine; Besmond, Claude; Bienvenu, Thierry; Bruel, Ange-Line; Brunga, Ledia; Ceulemans, Berten; Coubes, Christine; Cristancho, Ana G; Cunningham, Fiona; Dehouck, Marie-Bertille; Donner, Elizabeth J; Duban-Bedu, Bénédicte; Dubourg, Christèle; Gardella, Elena; Gauthier, Julie; Geneviève, David; Gobin-Limballe, Stéphanie; Goldberg, Ethan M; Hagebeuk, Eveline; Hamdan, Fadi F; Hancárová, Miroslava; Hubert, Laurence; Ioos, Christine; Ichikawa, Shoji; Janssens, Sandra; Journel, Hubert; Kaminska, Anna; Keren, Boris; Koopmans, Marije; Lacoste, Caroline; Lassuthová, Petra; Lederer, Damien; Lehalle, Daphné; Marjanovic, Dragan; Métreau, Julia; Michaud, Jacques L; Miller, Kathryn.

Genet Med; 21(4): 837-849, 2019 04.

Artigo em Inglês | MEDLINE | ID: mdl-30206421

6.

Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

Mignot, Cyril; McMahon, Aoife C; Bar, Claire; Campeau, Philippe M; Davidson, Claire; Buratti, Julien; Nava, Caroline; Jacquemont, Marie-Line; Tallot, Marilyn; Milh, Mathieu; Edery, Patrick; Marzin, Pauline; Barcia, Giulia; Barnerias, Christine; Besmond, Claude; Bienvenu, Thierry; Bruel, Ange-Line; Brunga, Ledia; Ceulemans, Berten; Coubes, Christine; Cristancho, Ana G; Cunningham, Fiona; Dehouck, Marie-Bertille; Donner, Elizabeth J; Duban-Bedu, Bénédicte; Dubourg, Christèle; Gardella, Elena; Gauthier, Julie; Geneviève, David; Gobin-Limballe, Stéphanie; Goldberg, Ethan M; Hagebeuk, Eveline; Hamdan, Fadi F; Hancárová, Miroslava; Hubert, Laurence; Ioos, Christine; Ichikawa, Shoji; Janssens, Sandra; Journel, Hubert; Kaminska, Anna; Keren, Boris; Koopmans, Marije; Lacoste, Caroline; Lassuthová, Petra; Lederer, Damien; Lehalle, Daphné; Marjanovic, Dragan; Métreau, Julia; Michaud, Jacques L; Miller, Kathryn.

Genet Med; 21(8): 1897-1898, 2019 Aug.

Artigo em Inglês | MEDLINE | ID: mdl-30279470

7.

BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells.

Lessel, Davor; Gehbauer, Christina; Bramswig, Nuria C; Schluth-Bolard, Caroline; Venkataramanappa, Sathish; van Gassen, Koen L I; Hempel, Maja; Haack, Tobias B; Baresic, Anja; Genetti, Casie A; Funari, Mariana F A; Lessel, Ivana; Kuhlmann, Leonie; Simon, Ruth; Liu, Pentao; Denecke, Jonas; Kuechler, Alma; de Kruijff, Ineke; Shoukier, Moneef; Lek, Monkol; Mullen, Thomas; Lüdecke, Hermann-Josef; Lerario, Antonio M; Kobbe, Robin; Krieger, Thorsten; Demeer, Benedicte; Lebrun, Marine; Keren, Boris; Nava, Caroline; Buratti, Julien; Afenjar, Alexandra; Shinawi, Marwan; Guillen Sacoto, Maria J; Gauthier, Julie; Hamdan, Fadi F; Laberge, Anne-Marie; Campeau, Philippe M; Louie, Raymond J; Cathey, Sara S; Prinz, Immo; Jorge, Alexander A L; Terhal, Paulien A; Lenhard, Boris; Wieczorek, Dagmar; Strom, Tim M; Agrawal, Pankaj B; Britsch, Stefan; Tolosa, Eva; Kubisch, Christian.

Brain; 141(8): 2299-2311, 2018 08 01.

Artigo em Inglês | MEDLINE | ID: mdl-29985992

8.

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

Helbig, Katherine L; Lauerer, Robert J; Bahr, Jacqueline C; Souza, Ivana A; Myers, Candace T; Uysal, Betül; Schwarz, Niklas; Gandini, Maria A; Huang, Sun; Keren, Boris; Mignot, Cyril; Afenjar, Alexandra; Billette de Villemeur, Thierry; Héron, Delphine; Nava, Caroline; Valence, Stéphanie; Buratti, Julien; Fagerberg, Christina R; Soerensen, Kristina P; Kibaek, Maria; Kamsteeg, Erik-Jan; Koolen, David A; Gunning, Boudewijn; Schelhaas, H Jurgen; Kruer, Michael C; Fox, Jordana; Bakhtiari, Somayeh; Jarrar, Randa; Padilla-Lopez, Sergio; Lindstrom, Kristin; Jin, Sheng Chih; Zeng, Xue; Bilguvar, Kaya; Papavasileiou, Antigone; Xing, Qinghe; Zhu, Changlian; Boysen, Katja; Vairo, Filippo; Lanpher, Brendan C; Klee, Eric W; Tillema, Jan-Mendelt; Payne, Eric T; Cousin, Margot A; Kruisselbrink, Teresa M; Wick, Myra J; Baker, Joshua; Haan, Eric; Smith, Nicholas; Sadeghpour, Azita; Davis, Erica E.

Am J Hum Genet; 104(3): 562, 2019 Mar 07.

Artigo em Inglês | MEDLINE | ID: mdl-30849329

9.

Mutations and genomic islands can explain the strain dependency of sugar utilization in 21 strains of Propionibacterium freudenreichii.

Loux, Valentin; Mariadassou, Mahendra; Almeida, Sintia; Chiapello, Hélène; Hammani, Amal; Buratti, Julien; Gendrault, Annie; Barbe, Valérie; Aury, Jean-Marc; Deutsch, Stéphanie-Marie; Parayre, Sandrine; Madec, Marie-Noëlle; Chuat, Victoria; Jan, Gwenaël; Peterlongo, Pierre; Azevedo, Vasco; Le Loir, Yves; Falentin, Hélène.

BMC Genomics; 16: 296, 2015 Apr 15.

Artigo em Inglês | MEDLINE | ID: mdl-25886522

10.

Novel GABRA2 variants in epileptic encephalopathy and intellectual disability with seizures.

Maljevic, Snezana; Keren, Boris; Aung, Ye Htet; Forster, Ian C; Mignot, Cyril; Buratti, Julien; Lafitte, Aurélie; Freihuber, Cécile; Rodan, Lance H; Bergin, Ann; Hubert, Laurence; Poirier, Karine; Munnich, Arnold; Besmond, Claude; Hauser, Natalie; Miller, Rebecca; McWalter, Kirsty; Nabbout, Rima; Héron, Delphine; Leguern, Eric; Depienne, Christel; Petrou, Steven; Nava, Caroline.

Brain; 142(5): e15, 2019 05 01.

Artigo em Inglês | MEDLINE | ID: mdl-31032849

11.

Lactobacillus delbrueckii ssp. lactis and ssp. bulgaricus: a chronicle of evolution in action.

El Kafsi, Hela; Binesse, Johan; Loux, Valentin; Buratti, Julien; Boudebbouze, Samira; Dervyn, Rozenn; Kennedy, Sean; Galleron, Nathalie; Quinquis, Benoît; Batto, Jean-Michel; Moumen, Bouziane; Maguin, Emmanuelle; van de Guchte, Maarten.

BMC Genomics; 15: 407, 2014 May 28.

Artigo em Inglês | MEDLINE | ID: mdl-24884896

12.

The complete loss of function of the SMS gene results in a severe form of Snyder-Robinson syndrome.

Larcher, Lise; Norris, Joy W; Lejeune, Elodie; Buratti, Julien; Mignot, Cyril; Garel, Catherine; Keren, Boris; Schwartz, Charles E; Whalen, Sandra.

Eur J Med Genet; : 103777, 2019 Sep 30.

Artigo em Inglês | MEDLINE | ID: mdl-31580924

13.

Both rare and common genetic variants contribute to autism in the Faroe Islands.

Leblond, Claire S; Cliquet, Freddy; Carton, Coralie; Huguet, Guillaume; Mathieu, Alexandre; Kergrohen, Thomas; Buratti, Julien; Lemière, Nathalie; Cuisset, Laurence; Bienvenu, Thierry; Boland, Anne; Deleuze, Jean-François; Stora, Tormodur; Biskupstoe, Rannva; Halling, Jónrit; Andorsdóttir, Guðrið; Billstedt, Eva; Gillberg, Christopher; Bourgeron, Thomas.

NPJ Genom Med; 4: 1, 2019.

Artigo em Inglês | MEDLINE | ID: mdl-30675382

14.

Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2.

Corbett, Mark A; Kroes, Thessa; Veneziano, Liana; Bennett, Mark F; Florian, Rahel; Schneider, Amy L; Coppola, Antonietta; Licchetta, Laura; Franceschetti, Silvana; Suppa, Antonio; Wenger, Aaron; Mei, Davide; Pendziwiat, Manuela; Kaya, Sabine; Delledonne, Massimo; Straussberg, Rachel; Xumerle, Luciano; Regan, Brigid; Crompton, Douglas; van Rootselaar, Anne-Fleur; Correll, Anthony; Catford, Rachael; Bisulli, Francesca; Chakraborty, Shreyasee; Baldassari, Sara; Tinuper, Paolo; Barton, Kirston; Carswell, Shaun; Smith, Martin; Berardelli, Alfredo; Carroll, Renee; Gardner, Alison; Friend, Kathryn L; Blatt, Ilan; Iacomino, Michele; Di Bonaventura, Carlo; Striano, Salvatore; Buratti, Julien; Keren, Boris; Nava, Caroline; Forlani, Sylvie; Rudolf, Gabrielle; Hirsch, Edouard; Leguern, Eric; Labauge, Pierre; Balestrini, Simona; Sander, Josemir W; Afawi, Zaid; Helbig, Ingo; Ishiura, Hiroyuki.

Nat Commun; 10(1): 4920, 2019 10 29.

Artigo em Inglês | MEDLINE | ID: mdl-31664034

15.

Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3.

Florian, Rahel T; Kraft, Florian; Leitão, Elsa; Kaya, Sabine; Klebe, Stephan; Magnin, Eloi; van Rootselaar, Anne-Fleur; Buratti, Julien; Kühnel, Theresa; Schröder, Christopher; Giesselmann, Sebastian; Tschernoster, Nikolai; Altmueller, Janine; Lamiral, Anaide; Keren, Boris; Nava, Caroline; Bouteiller, Delphine; Forlani, Sylvie; Jornea, Ludmila; Kubica, Regina; Ye, Tao; Plassard, Damien; Jost, Bernard; Meyer, Vincent; Deleuze, Jean-François; Delpu, Yannick; Avarello, Mario D M; Vijfhuizen, Lisanne S; Rudolf, Gabrielle; Hirsch, Edouard; Kroes, Thessa; Reif, Philipp S; Rosenow, Felix; Ganos, Christos; Vidailhet, Marie; Thivard, Lionel; Mathieu, Alexandre; Bourgeron, Thomas; Kurth, Ingo; Rafehi, Haloom; Steenpass, Laura; Horsthemke, Bernhard; LeGuern, Eric; Klein, Karl Martin; Labauge, Pierre; Bennett, Mark F; Bahlo, Melanie; Gecz, Jozef; Corbett, Mark A; Tijssen, Marina A J.

Nat Commun; 10(1): 4919, 2019 10 29.

Artigo em Inglês | MEDLINE | ID: mdl-31664039

16.

Erratum: Author Correction: A framework to identify contributing genes in patients with Phelan-McDermid syndrome.

Tabet, Anne-Claude; Rolland, Thomas; Ducloy, Marie; Lévy, Jonathan; Buratti, Julien; Mathieu, Alexandre; Haye, Damien; Perrin, Laurence; Dupont, Céline; Passemard, Sandrine; Capri, Yline; Verloes, Alain; Drunat, Séverine; Keren, Boris; Mignot, Cyril; Marey, Isabelle; Jacquette, Aurélia; Whalen, Sandra; Pipiras, Eva; Benzacken, Brigitte; Chantot-Bastaraud, Sandra; Afenjar, Alexandra; Héron, Delphine; Le Caignec, Cédric; Beneteau, Claire; Pichon, Olivier; Isidor, Bertrand; David, Albert; El Khattabi, Laila; Kemeny, Stephan; Gouas, Laetitia; Vago, Philippe; Mosca-Boidron, Anne-Laure; Faivre, Laurence; Missirian, Chantal; Philip, Nicole; Sanlaville, Damien; Edery, Patrick; Satre, Véronique; Coutton, Charles; Devillard, Françoise; Dieterich, Klaus; Vuillaume, Marie-Laure; Rooryck, Caroline; Lacombe, Didier; Pinson, Lucile; Gatinois, Vincent; Puechberty, Jacques; Chiesa, Jean; Lespinasse, James.

NPJ Genom Med; 4: 16, 2019.

Artigo em Inglês | MEDLINE | ID: mdl-31285849

17.

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

Blok, Lot Snijders; Rousseau, Justine; Twist, Joanna; Ehresmann, Sophie; Takaku, Motoki; Venselaar, Hanka; Rodan, Lance H; Nowak, Catherine B; Douglas, Jessica; Swoboda, Kathryn J; Steeves, Marcie A; Sahai, Inderneel; Stumpel, Connie T R M; Stegmann, Alexander P A; Wheeler, Patricia; Willing, Marcia; Fiala, Elise; Kochhar, Aaina; Gibson, William T; Cohen, Ana S A; Agbahovbe, Ruky; Innes, A Micheil; Au, P Y Billie; Rankin, Julia; Anderson, Ilse J; Skinner, Steven A; Louie, Raymond J; Warren, Hannah E; Afenjar, Alexandra; Keren, Boris; Nava, Caroline; Buratti, Julien; Isapof, Arnaud; Rodriguez, Diana; Lewandowski, Raymond; Propst, Jennifer; van Essen, Ton; Choi, Murim; Lee, Sangmoon; Chae, Jong H; Price, Susan; Schnur, Rhonda E; Douglas, Ganka; Wentzensen, Ingrid M; Zweier, Christiane; Reis, André; Bialer, Martin G; Moore, Christine; Koopmans, Marije; Brilstra, Eva H.

Nat Commun; 10(1): 883, 2019 02 15.

Artigo em Inglês | MEDLINE | ID: mdl-30770872

18.

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

Snijders Blok, Lot; Rousseau, Justine; Twist, Joanna; Ehresmann, Sophie; Takaku, Motoki; Venselaar, Hanka; Rodan, Lance H; Nowak, Catherine B; Douglas, Jessica; Swoboda, Kathryn J; Steeves, Marcie A; Sahai, Inderneel; Stumpel, Connie T R M; Stegmann, Alexander P A; Wheeler, Patricia; Willing, Marcia; Fiala, Elise; Kochhar, Aaina; Gibson, William T; Cohen, Ana S A; Agbahovbe, Ruky; Innes, A Micheil; Au, P Y Billie; Rankin, Julia; Anderson, Ilse J; Skinner, Steven A; Louie, Raymond J; Warren, Hannah E; Afenjar, Alexandra; Keren, Boris; Nava, Caroline; Buratti, Julien; Isapof, Arnaud; Rodriguez, Diana; Lewandowski, Raymond; Propst, Jennifer; van Essen, Ton; Choi, Murim; Lee, Sangmoon; Chae, Jong H; Price, Susan; Schnur, Rhonda E; Douglas, Ganka; Wentzensen, Ingrid M; Zweier, Christiane; Reis, André; Bialer, Martin G; Moore, Christine; Koopmans, Marije; Brilstra, Eva H.

Nat Commun; 10(1): 2079, 2019 May 02.

Artigo em Inglês | MEDLINE | ID: mdl-31048695

19.

Association of modifiers and other genetic factors explain Marfan syndrome clinical variability.

Aubart, Melodie; Gazal, Steven; Arnaud, Pauline; Benarroch, Louise; Gross, Marie-Sylvie; Buratti, Julien; Boland, Anne; Meyer, Vincent; Zouali, Habib; Hanna, Nadine; Milleron, Olivier; Stheneur, Chantal; Bourgeron, Thomas; Desguerre, Isabelle; Jacob, Marie-Paule; Gouya, Laurent; Génin, Emmanuelle; Deleuze, Jean-François; Jondeau, Guillaume; Boileau, Catherine.

Eur J Hum Genet; 26(12): 1759-1772, 2018 12.

Artigo em Inglês | MEDLINE | ID: mdl-30087447

20.

CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

Snijders Blok, Lot; Rousseau, Justine; Twist, Joanna; Ehresmann, Sophie; Takaku, Motoki; Venselaar, Hanka; Rodan, Lance H; Nowak, Catherine B; Douglas, Jessica; Swoboda, Kathryn J; Steeves, Marcie A; Sahai, Inderneel; Stumpel, Connie T R M; Stegmann, Alexander P A; Wheeler, Patricia; Willing, Marcia; Fiala, Elise; Kochhar, Aaina; Gibson, William T; Cohen, Ana S A; Agbahovbe, Ruky; Innes, A Micheil; Au, P Y Billie; Rankin, Julia; Anderson, Ilse J; Skinner, Steven A; Louie, Raymond J; Warren, Hannah E; Afenjar, Alexandra; Keren, Boris; Nava, Caroline; Buratti, Julien; Isapof, Arnaud; Rodriguez, Diana; Lewandowski, Raymond; Propst, Jennifer; van Essen, Ton; Choi, Murim; Lee, Sangmoon; Chae, Jong H; Price, Susan; Schnur, Rhonda E; Douglas, Ganka; Wentzensen, Ingrid M; Zweier, Christiane; Reis, André; Bialer, Martin G; Moore, Christine; Koopmans, Marije; Brilstra, Eva H.

Nat Commun; 9(1): 4619, 2018 11 05.

Artigo em Inglês | MEDLINE | ID: mdl-30397230

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Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency.

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

New evidence that biallelic loss of function in EEF1B2 gene leads to intellectual disability.

Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature.

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells.

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

Mutations and genomic islands can explain the strain dependency of sugar utilization in 21 strains of Propionibacterium freudenreichii.

Novel GABRA2 variants in epileptic encephalopathy and intellectual disability with seizures.

Lactobacillus delbrueckii ssp. lactis and ssp. bulgaricus: a chronicle of evolution in action.

The complete loss of function of the SMS gene results in a severe form of Snyder-Robinson syndrome.

Both rare and common genetic variants contribute to autism in the Faroe Islands.

Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2.

Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3.

Erratum: Author Correction: A framework to identify contributing genes in patients with Phelan-McDermid syndrome.

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

Association of modifiers and other genetic factors explain Marfan syndrome clinical variability.

CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.