Increased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencing by Bruel, Ange-Line, Nambot, Sophie, Quéré, Virginie, Vitobello, Antonio, Thevenon, Julien, Assoum, Mirna, Moutton, Sébastien, Houcinat, Nada, Lehalle, Daphné, Jean-Marçais, Nolwenn, Chevarin, Martin, Jouan, Thibaud, Poë, Charlotte, Callier, Patrick, Tisserand, Emilie, Philippe, Christophe, Them, Frédéric Tran Mau, Duffourd, Yannis, Faivre, Laurence, Thauvin-Robinet, Christel

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Mutations in ABHD12 Cause the Neurodegenerative Disease PHARC: An Inborn Error of Endocannabinoid Metabolism by Fiskerstrand, Torunn, H'mida-Ben Brahim, Dorra, Johansson, Stefan, M'zahem, Abderrahim, Haukanes, Bjørn Ivar, Drouot, Nathalie, Zimmermann, Julian, Cole, Andrew J., Vedeler, Christian, Bredrup, Cecilie, Assoum, Mirna, Tazir, Meriem, Klockgether, Thomas, Hamri, Abdelmadjid, Steen, Vidar M., Boman, Helge, Bindoff, Laurence A., Koenig, Michel, Knappskog, Per M.

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Prenatal exome sequencing and chromosomal microarray analysis in fetal structural anomalies in a highly consanguineous population reveals a propensity of ciliopathy genes causing m... by Al-Hamed, Mohamed H., Kurdi, Wesam, Khan, Rubina, Tulbah, Maha, AlNemer, Maha, AlSahan, Nada, AlMugbel, Maisoon, Rafiullah, Rafiullah, Assoum, Mirna, Monies, Dorota, Shah, Zeeshan, Rahbeeni, Zuhair, Derar, Nada, Hakami, Fahad, Almutairi, Gawaher, AlOtaibi, Afaf, Ali, Wafaa, AlShammasi, Amal, AlMubarak, Wardah, AlDawoud, Samia, AlAmri, Saja, Saeed, Bashayer, Bukhari, Hanifa, Ali, Mohannad, Akili, Rana, Alquayt, Laila, Hagos, Samia, Elbardisy, Hadeel, Akilan, Asma, Almuhana, Nora, AlKhalifah, Abrar, Abouelhoda, Mohamed, Ramzan, Khushnooda, Sayer, John A., Imtiaz, Faiqa

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The clinical utility of rapid exome sequencing in a consanguineous population by Monies, Dorota, Goljan, Ewa, Assoum, Mirna, Albreacan, Muna, Binhumaid, Faisal, Subhani, Shazia, Boureggah, Abdulmlik, Hashem, Mais, Abdulwahab, Firdous, Abuyousef, Omar, Temsah, Mohamad H, Alsohime, Fahad, Kelaher, James, Abouelhoda, Mohamed, Meyer, Brian F, Alkuraya, Fowzan S

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Further delineation of the clinical spectrum of de novo TRIM8 truncating mutations by Assoum, Mirna, Lines, Matthew A., Elpeleg, Orly, Darmency, Véronique, Whiting, Sharon, Edvardson, Simon, Devinsky, Orrin, Heinzen, Erin, Hernan, Rebecca Rose, Antignac, Corinne, Deleuze, Jean‐François, Des Portes, Vincent, Bertholet‐Thomas, Aurélie, Belot, Alexandre, Geller, Eric, Lemesle, Martine, Duffourd, Yannis, Thauvin‐Robinet, Christel, Thevenon, Julien, Chung, Wendy, Lowenstein, Daniel H., Faivre, Laurence

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Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population by Monies, Dorota, Abouelhoda, Mohammed, Assoum, Mirna, Moghrabi, Nabil, Rafiullah, Rafiullah, Almontashiri, Naif, Alowain, Mohammed, Alzaidan, Hamad, Alsayed, Moeen, Subhani, Shazia, Cupler, Edward, Faden, Maha, Alhashem, Amal, Qari, Alya, Aldhalaan, Hisham, Kurdi, Wesam, Khan, Sameena, Rahbeeni, Zuhair, Goljan, Ewa, Elbardisy, Hadeel, ElKalioby, Mohamed, Shah, Zeeshan, Jaafar, Amal, Albar, Ranad, Akilan, Asma, Tayeb, Hamsa, Tahir, Asma, Fawzy, Mohammed, Nasr, Mohammed, Makki, Shaza, Alfaifi, Abdullah, Akleh, Hanna, Yamani, Suad, Bubshait, Dalal, Mahnashi, Mohammed, Basha, Talal, Alsagheir, Afaf, Alsaleem, Khalid, Badawi, Manal, Bashiri, Fahad, Bohlega, Saeed, Tous, Ehab, Ahmed, Syed, Algoufi, Talal, Al-Mousa, Hamoud, Alaki, Emadia, Alhumaidi, Susan, Alghamdi, Hadeel, Alghamdi, Malak, Sahly, Ahmed, Al-Ahmari, Ali, Alkuraya, Hisham, Almehaidib, Ali, Abanemai, Mohammed, Alsohaibaini, Fahad, Arnaout, Rand, Abdel-Salam, Ghada M.H., Aldhekri, Hasan, AlKhater, Suzan, Alqadi, Khalid, Alshareef, Turki, Banjar, Hanaa, Alsahan, Nada, Abosoudah, Ibraheem, Alashwal, Abdullah, Alhajjar, Sami, Al-Mayouf, Sulaiman, Alsemari, Abdulaziz, Alshuaibi, Walaa, Altala, Saeed, Baz, Salah, Hamad, Muddathir, Abalkhail, Tariq, Alenazi, Badi, Alkaff, Alya, Almohareb, Fahad, Al Mutairi, Fuad, Alsaleh, Mona, Alzelaye, Somaya, Bahzad, Shakir, Manee, Abdulaziz Bin, Jarrad, Ola, Meriki, Neama, Albeirouti, Bassem, Alqasmi, Amal, AlBalwi, Mohammed, Makhseed, Nawal, Hassan, Saeed, Shaheen, Marwan, Sermin, Saadeh, Shahrukh, Shamsad, Hashmi, Shahrukh, Shawli, Ayman, Tamim, Abdullah, Alnahari, Ahmed, Ghemlas, Ibrahim, Hussein, Maged, Wali, Sami, Murad, Hatem, Alkuraya, Fowzan S.

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CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language by 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., Monroe, Glen R., van Gassen, Koen L. I., van Binsbergen, Ellen, Newbury-Ecob, Ruth, Bownass, Lucy, Bader, Ingrid, Mayr, Johannes A., Wortmann, Saskia B., Jakielski, Kathy J., Strand, Edythe A., Kloth, Katja, Bierhals, Tatjana, Roberts, John D., Petrovich, Robert M., Machida, Shinichi, Kurumizaka, Hitoshi, Lelieveld, Stefan, Pfundt, Rolph, Jansen, Sandra, Deriziotis, Pelagia, Faivre, Laurence, Thevenon, Julien, Assoum, Mirna, Shriberg, Lawrence, Kleefstra, Tjitske, Brunner, Han G., Wade, Paul A., Fisher, Simon E., Campeau, Philippe M.

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ADCK3, an Ancestral Kinase, Is Mutated in a Form of Recessive Ataxia Associated with Coenzyme Q10 Deficiency by LAGIER-TOURENNE, Clotilde, TAZIR, Meriem, ANHEIM, Mathieu, LYNCH, David R, THIBAULT, Christelle, PLEWNIAK, Frédéric, BIANCHETTI, Laurent, TRANCHANT, Christine, POCH, Olivier, DIMAURO, Salvatore, MANDEL, Jean-Louis, BARROS, Mario H, LOPEZ, Luis Carlos, HIRANO, Michio, KOENIG, Michel, QUINZII, Catarina M, ASSOUM, Mirna, DROUOT, Nathalie, BUSSO, Cleverson, MAKRI, Samira, ALI-PACHA, Lamia, BENHASSINE, Traki

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Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy by Assoum, Mirna, Philippe, Christophe, Isidor, Bertrand, Perrin, Laurence, Makrythanasis, Periklis, Sondheimer, Neal, Paris, Caroline, Douglas, Jessica, Lesca, Gaetan, Antonarakis, Stylianos, Hamamy, Hanan, Jouan, Thibaud, Duffourd, Yannis, Auvin, Stéphane, Saunier, Aline, Begtrup, Amber, Nowak, Catherine, Chatron, Nicolas, Ville, Dorothée, Mireskandari, Kamiar, Milani, Paolo, Jonveaux, Philippe, Lemeur, Guylène, Milh, Mathieu, Amamoto, Masano, Kato, Mitsuhiro, Nakashima, Mitsuko, Miyake, Noriko, Matsumoto, Naomichi, Masri, Amira, Thauvin-Robinet, Christel, Rivière, Jean-Baptiste, Faivre, Laurence, Thevenon, Julien

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PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia by Jobling, Rebekah K, Assoum, Mirna, Gakh, Oleksandr, Blaser, Susan, Raiman, Julian A, Mignot, Cyril, Roze, Emmanuel, Dürr, Alexandra, Brice, Alexis, Lévy, Nicolas, Prasad, Chitra, Paton, Tara, Paterson, Andrew D, Roslin, Nicole M, Marshall, Christian R, Desvignes, Jean-Pierre, Roëckel-Trevisiol, Nathalie, Scherer, Stephen W, Rouleau, Guy A, Mégarbané, André, Isaya, Grazia, Delague, Valérie, Yoon, Grace

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Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population by Monies, Dorota, Abouelhoda, Mohammed, Assoum, Mirna, Moghrabi, Nabil, Almontashiri, Naif, Alowain, Mohammed, Alzaidan, Hamad, Alsayed, Moeen, Subhani, Shazia, Cupler, Edward, Faden, Maha, Alhashem, Amal, Qari, Alya, Aldhalaan, Hisham, Kurdi, Wesam, Rahbeeni, Zuhair, Alotaibi, Maha, Goljan, Ewa, Elbardisy, Hadeel, ElKalioby, Mohamed, Shah, Zeeshan, Alruwaili, Hibah, Jaafar, Amal, Albar, Ranad, Tayeb, Hamsa, Fawzy, Mohammed, Nasr, Mohammed, Makki, Shaza, Alfaifi, Abdullah, Akleh, Hanna, Yamani, Suad, Bubshait, Dalal, Mahnashi, Mohammed, Basha, Talal, Alsagheir, Afaf, Khaled, Musad Abu, Almugbel, Maisoon, Badawi, Manal, Sulaiman, Raashida, Algoufi, Talal, Alaki, Emadia, Alhumaidi, Susan, Alghamdi, Hadeel, Alghamdi, Malak, Sahly, Ahmed, Nahrir, Shapar, Al-Ahmari, Ali, Alkuraya, Hisham, Almehaidib, Ali, Abanemai, Mohammed, Alsohaibaini, Fahad, Alsaud, Bandar, Arnaout, Rand, Abdel-Salam, Ghada M.H., Aldhekri, Hasan, AlKhater, Suzan, Alqadi, Khalid, Alsabban, Essam, Alshareef, Turki, Awartani, Khalid, Banjar, Hanaa, Alsahan, Nada, Aldekhail, Wajeeh, Alhajjar, Sami, Al-Mayouf, Sulaiman, Alsemari, Abdulaziz, Alshuaibi, Walaa, Altala, Saeed, Altalhi, Abdulhadi, Baz, Salah, Hamad, Muddathir, Abalkhail, Tariq, Alenazi, Badi, Alkaff, Alya, Almohareb, Fahad, Alsaleh, Mona, Alsonbul, Abdullah, Alzelaye, Somaya, Bahzad, Shakir, Manee, Abdulaziz Bin, Jarrad, Ola, Meriki, Neama, Albeirouti, Bassem, AlBalwi, Mohammed, Hassan, Saeed, Salih, Isam, Salih, Mustafa A., Shaheen, Marwan, Sermin, Saadeh, Shahrukh, Shamsad, Hashmi, Shahrukh, Tajuddin, Ameen, Tamim, Abdullah, Alnahari, Ahmed, Ghemlas, Ibrahim, Hussein, Maged, Wali, Sami, Murad, Hatem, Meyer, Brian F., Alkuraya, Fowzan S.

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Toward clinical and molecular dissection of frontonasal dysplasia with facial skin polyps: From Pai syndrome to differential diagnosis through a series of 27 patients by Lehalle, Daphné, Bruel, Ange‐Line, Vitobello, Antonio, Denommé‐Pichon, Anne‐Sophie, Duffourd, Yannis, Assoum, Mirna, Amiel, Jeanne, Baujat, Geneviève, Bessieres, Bettina, Bigoni, Stefania, Burglen, Lydie, Captier, Guillaume, Dard, Rodolphe, Edery, Patrick, Fortunato, Fernanda, Geneviève, David, Goldenberg, Alice, Guibaud, Laurent, Héron, Delphine, Holder‐Espinasse, Muriel, Lederer, Damien, Lopez Grondona, Fermina, Grotto, Sarah, Marlin, Sandrine, Nadeau, Gwenaël, Picard, Arnaud, Rossi, Massimiliano, Roume, Joëlle, Sanlaville, Damien, Saugier‐Veber, Pascale, Triau, Stéphane, Valenzuela Palafoll, Maria Irene, Vanlerberghe, Clémence, Van Maldergem, Lionel, Vezain, Myriam, Vincent‐Delorme, Catherine, Zivi, Einat, Thevenon, Julien, Vabres, Pierre, Thauvin‐Robinet, Christel, Callier, Patrick, Faivre, Laurence

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Novel KIAA1033/WASHC4 mutations in three patients with syndromic intellectual disability and a review of the literature by Assoum, Mirna, Bruel, Ange‐Line, Crenshaw, Melissa L., Delanne, Julian, Wentzensen, Ingrid M., McWalter, Kirsty, Dent, Karin M., Vitobello, Antonio, Kuentz, Paul, Thevenon, Julien, Duffourd, Yannis, Thauvin‐Robinet, Christel, Faivre, Laurence

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Targeted Next-Generation Sequencing of a 12.5 Mb Homozygous Region Reveals ANO10 Mutations in Patients with Autosomal-Recessive Cerebellar Ataxia by Vermeer, Sascha, Hoischen, Alexander, Meijer, Rowdy P.P., Gilissen, Christian, Neveling, Kornelia, Wieskamp, Nienke, de Brouwer, Arjan, Koenig, Michel, Anheim, Mathieu, Assoum, Mirna, Drouot, Nathalie, Todorovic, Slobodanka, Milic-Rasic, Vedrana, Lochmüller, Hanns, Stevanin, Giovanni, Goizet, Cyril, David, Albert, Durr, Alexandra, Brice, Alexis, Kremer, Berry, van de Warrenburg, Bart P.C., Schijvenaars, Mascha M.V.A.P., Heister, Angelien, Kwint, Michael, Arts, Peer, van der Wijst, Jenny, Veltman, Joris, Kamsteeg, Erik-Jan, Scheffer, Hans, Knoers, Nine

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Murine MPDZ‐linked hydrocephalus is caused by hyperpermeability of the choroid plexus by Yang, Junning, Simonneau, Claire, Kilker, Robert, Oakley, Laura, Byrne, Matthew D, Nichtova, Zuzana, Stefanescu, Ioana, Pardeep‐Kumar, Fnu, Tripathi, Sushil, Londin, Eric, Saugier‐Veber, Pascale, Willard, Belinda, Thakur, Mathew, Pickup, Stephen, Ishikawa, Hiroshi, Schroten, Horst, Smeyne, Richard, Horowitz, Arie

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Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language by 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., Monroe, Glen R., van Gassen, Koen L. I., van Binsbergen, Ellen, Newbury-Ecob, Ruth, Bownass, Lucy, Bader, Ingrid, Mayr, Johannes A., Wortmann, Saskia B., Jakielski, Kathy J., Strand, Edythe A., Kloth, Katja, Bierhals, Tatjana, Roberts, John D., Petrovich, Robert M., Machida, Shinichi, Kurumizaka, Hitoshi, Lelieveld, Stefan, Pfundt, Rolph, Jansen, Sandra, Deriziotis, Pelagia, Faivre, Laurence, Thevenon, Julien, Assoum, Mirna, Shriberg, Lawrence, Kleefstra, Tjitske, Brunner, Han G., Wade, Paul A., Fisher, Simon E., Campeau, Philippe M.

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Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language by 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., Monroe, Glen R., van Gassen, Koen L. I., van Binsbergen, Ellen, Newbury-Ecob, Ruth, Bownass, Lucy, Bader, Ingrid, Mayr, Johannes A., Wortmann, Saskia B., Jakielski, Kathy J., Strand, Edythe A., Kloth, Katja, Bierhals, Tatjana, Roberts, John D., Petrovich, Robert M., Machida, Shinichi, Kurumizaka, Hitoshi, Lelieveld, Stefan, Pfundt, Rolph, Jansen, Sandra, Deriziotis, Pelagia, Faivre, Laurence, Thevenon, Julien, Assoum, Mirna, Shriberg, Lawrence, Kleefstra, Tjitske, Brunner, Han G., Wade, Paul A., Fisher, Simon E., Campeau, Philippe M.

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Rundataxin, a novel protein with RUN and diacylglycerol binding domains, is mutant in a new recessive ataxia by Assoum, Mirna, Salih, Mustafa A., Drouot, Nathalie, H'Mida-Ben Brahim, Dorra, Lagier-Tourenne, Clotilde, AlDrees, Abdulmajeed, Elmalik, Salah A., Ahmed, Taha S., Seidahmed, Mohammad Z., Kabiraj, Mohammad M., Koenig, Michel

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The oculoauriculofrontonasal syndrome: Further clinical characterization and additional evidence suggesting a nontraditional mode of inheritance by Lehalle, Daphné, Altunoglu, Umut, Bruel, Ange‐Line, Assoum, Mirna, Duffourd, Yannis, Masurel, Alice, Baujat, Geneviève, Bessieres, Bettina, Captier, Guillaume, Edery, Patrick, Elçioğlu, Nursel H., Geneviève, David, Goldenberg, Alice, Héron, Delphine, Grotto, Sarah, Marlin, Sandrine, Putoux, Audrey, Rossi, Massimiliano, Saugier‐Veber, Pascale, Triau, Stéphane, Cabrol, Christelle, Vézain, Myriam, Vincent‐Delorme, Catherine, Thauvin‐Robinet, Christel, Thevenon, Julien, Vabres, Pierre, Callier, Patrick, Kayserili, Hulya, Faivre, Laurence

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Mutations in ABHD 12 Cause the Neurodegenerative Disease PHARC: An Inborn Error of Endocannabinoid Metabolism by FISKERSTRAND, Torunn, H'MIDA-BEN BRAHIM, Dorra, ASSOUM, Mirna, TAZIR, Meriem, KLOCKGETHER, Thomas, HAMRI, Abdelmadjid, STEEN, Vidar M, BOMAN, Helge, BINDOFF, Laurence A, KOENIG, Michel, KNAPPSKOG, Per M, JOHANSSON, Stefan, M'ZAHEM, Abderrahim, HAUKANES, Bjørn Ivar, DROUOT, Nathalie, ZIMMERMANN, Julian, COLE, Andrew J, VEDELER, Christian, BREDRUP, Cecilie

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