Toward clinical and molecular dissection of frontonasal dysplasia with facial skin polyps: From Pai syndrome to differential diagnosis through a series of 27 patients

Authors: 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

Source: American journal of medical genetics.Part A. 188(7):2036-2047

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A genomics approach to male infertility

Authors: Alhathal, Naif, Maddirevula, Sateesh, Coskun, Serdar, Alali, Hamed, Assoum, Mirna, Morris, Thomas, Deek, Hesham A., Hamed, Soha A., Alsuhaibani, Shaheed, Mirdawi, Abdulmalik, Ewida, Nour, Al-Qahtani, Mashael, Ibrahim, Niema, Abdulwahab, Firdous, Altaweel, Waleed, Dasouki, Majed J., Assiri, Abdullah, Qabbaj, Wafa, Alkuraya, Fowzan S.

Source: In Genetics in Medicine December 2020 22(12):1967-1975

Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population

Authors: 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, Chedrawi, Aziza, Aldhalaan, Hisham, Kurdi, Wesam, Khan, Sameena, Rahbeeni, Zuhair, Alotaibi, Maha, Goljan, Ewa, Elbardisy, Hadeel, ElKalioby, Mohamed, Shah, Zeeshan, Alruwaili, Hibah, 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, Abu Khaled, Musad, Alsaleem, Khalid, Almugbel, Maisoon, Badawi, Manal, Bashiri, Fahad, Bohlega, Saeed, Sulaiman, Raashida, Tous, Ehab, Ahmed, Syed, Algoufi, Talal, Al-Mousa, Hamoud, 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, Abosoudah, Ibraheem, Alashwal, Abdullah, 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, Al Mutairi, Fuad, Alsaleh, Mona, Alsonbul, Abdullah, Alzelaye, Somaya, Bahzad, Shakir, Manee, Abdulaziz Bin, Jarrad, Ola, Meriki, Neama, Albeirouti, Bassem, Alqasmi, Amal, AlBalwi, Mohammed, Makhseed, Nawal, Hassan, Saeed, Salih, Isam, Salih, Mustafa A., Shaheen, Marwan, Sermin, Saadeh, Shahrukh, Shamsad, Hashmi, Shahrukh, Shawli, Ayman, Tajuddin, Ameen, Tamim, Abdullah, Alnahari, Ahmed, Ghemlas, Ibrahim, Hussein, Maged, Wali, Sami, Murad, Hatem, Meyer, Brian F., Alkuraya, Fowzan S.

Source: In The American Journal of Human Genetics 6 June 2019 104(6):1182-1201

Novel KIAA1033/WASHC4 mutations in three patients with syndromic intellectual disability and a review of the literature

Authors: 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

Source: American journal of medical genetics.Part A. 182(4):792-797

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

Authors: Snijders Blok, Lot, Rousseau, Justine, Twist, Joanna, Ehresmann, Sophie, Takaku, Motoki, Venselaar, Hanka, Rodan, Lance, Nowak, Catherine, Douglas, Jessica, Swoboda, Kathryn, Steeves, Marcie, Sahai, Inderneel, Stumpel, Connie, Stegmann, Alexander, Wheeler, Patricia, Willing, Marcia, Fiala, Elise, Kochhar, Aaina, Gibson, William, Cohen, Ana, Agbahovbe, Ruky, Innes, A., Au, P., Rankin, Julia, Anderson, Ilse, Skinner, Steven, Louie, Raymond, Warren, Hannah, Afenjar, Alexandra, Keren, Boris, Nava, Caroline, Buratti, Julien, Isapof, Arnaud, Rodriguez, Diana, Lewandowski, Raymond, Propst, Jennifer, Essen, Ton, Choi, Murim, Lee, Sangmoon, Chae, Jong, Price, Susan, Schnur, Rhonda, Douglas, Ganka, Wentzensen, Ingrid, Zweier, Christiane, Reis, André, Bialer, Martin, Moore, Christine, Koopmans, Marije, Brilstra, Eva, Monroe, Glen, Gassen, Koen, Binsbergen, Ellen, Newbury-Ecob, Ruth, Bownass, Lucy, Bader, Ingrid, Mayr, Johannes, Wortmann, Saskia, Jakielski, Kathy, Strand, Edythe, Kloth, Katja, Bierhals, Tatjana, Roberts, John, Petrovich, Robert, Machida, Shinichi, Kurumizaka, Hitoshi, Lelieveld, Stefan, Pfundt, Rolph, Jansen, Sandra, Deriziotis, Pelagia, Faivre, Laurence, Thevenon, Julien, Assoum, Mirna, Shriberg, Lawrence, Kleefstra, Tjitske, Brunner, Han, Wade, Paul, Fisher, Simon, Campeau, Philippe

Source: Nature communications. 10(1):1-4

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

Authors: Blok, Lot, Rousseau, Justine, Twist, Joanna, Ehresmann, Sophie, Takaku, Motoki, Venselaar, Hanka, Rodan, Lance, Nowak, Catherine, Douglas, Jessica, Swoboda, Kathryn, Steeves, Marcie, Sahai, Inderneel, Stumpel, Connie, Stegmann, Alexander, Wheeler, Patricia, Willing, Marcia, Fiala, Elise, Kochhar, Aaina, Gibson, William, Cohen, Ana, Agbahovbe, Ruky, Innes, A., Au, P., Rankin, Julia, Anderson, Ilse, Skinner, Steven, Louie, Raymond, Warren, Hannah, Afenjar, Alexandra, Keren, Boris, Nava, Caroline, Buratti, Julien, Isapof, Arnaud, Rodriguez, Diana, Lewandowski, Raymond, Propst, Jennifer, Essen, Ton, Choi, Murim, Lee, Sangmoon, Chae, Jong, Price, Susan, Schnur, Rhonda, Douglas, Ganka, Wentzensen, Ingrid, Zweier, Christiane, Reis, André, Bialer, Martin, Moore, Christine, Koopmans, Marije, Brilstra, Eva, Monroe, Glen, Gassen, Koen, Binsbergen, Ellen, Newbury-Ecob, Ruth, Bownass, Lucy, Bader, Ingrid, Mayr, Johannes, Wortmann, Saskia, Jakielski, Kathy, Strand, Edythe, Kloth, Katja, Bierhals, Tatjana, Roberts, John, Petrovich, Robert, Machida, Shinichi, Kurumizaka, Hitoshi, Lelieveld, Stefan, Pfundt, Rolph, Jansen, Sandra, Deriziotis, Pelagia, Faivre, Laurence, Thevenon, Julien, Assoum, Mirna, Shriberg, Lawrence, Kleefstra, Tjitske, Brunner, Han, Wade, Paul, Fisher, Simon, Campeau, Philippe

Source: Nature communications. 10(1):1-4

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100114584807.0x000001&indx=1&recIds=ETOCvdc_100114584807.0x000001

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

Authors: Snijders Blok, Lot, Rousseau, Justine, Twist, Joanna, Ehresmann, Sophie, Takaku, Motoki, Venselaar, Hanka, Rodan, Lance, Nowak, Catherine, Douglas, Jessica, Swoboda, Kathryn, Steeves, Marcie, Sahai, Inderneel, Stumpel, Connie, Stegmann, Alexander, Wheeler, Patricia, Willing, Marcia, Fiala, Elise, Kochhar, Aaina, Gibson, William, Cohen, Ana, Agbahovbe, Ruky, Innes, A., Au, P., Rankin, Julia, Anderson, Ilse, Skinner, Steven, Louie, Raymond, Warren, Hannah, Afenjar, Alexandra, Keren, Boris, Nava, Caroline, Buratti, Julien, Isapof, Arnaud, Rodriguez, Diana, Lewandowski, Raymond, Propst, Jennifer, Essen, Ton, Choi, Murim, Lee, Sangmoon, Chae, Jong, Price, Susan, Schnur, Rhonda, Douglas, Ganka, Wentzensen, Ingrid, Zweier, Christiane, Reis, André, Bialer, Martin, Moore, Christine, Koopmans, Marije, Brilstra, Eva, Monroe, Glen, Gassen, Koen, Binsbergen, Ellen, Newbury-Ecob, Ruth, Bownass, Lucy, Bader, Ingrid, Mayr, Johannes, Wortmann, Saskia, Jakielski, Kathy, Strand, Edythe, Kloth, Katja, Bierhals, Tatjana, Roberts, John, Petrovich, Robert, Machida, Shinichi, Kurumizaka, Hitoshi, Lelieveld, Stefan, Pfundt, Rolph, Jansen, Sandra, Deriziotis, Pelagia, Faivre, Laurence, Thevenon, Julien, Assoum, Mirna, Shriberg, Lawrence, Kleefstra, Tjitske, Brunner, Han, Wade, Paul, Fisher, Simon, Campeau, Philippe

Source: Nature communications. 9(1):1-12

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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

Authors: 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

Source: American journal of human genetics. 99(6):1368-1376

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100066190196.0x000001&indx=1&recIds=ETOCvdc_100066190196.0x000001

ADCK3, an Ancestral Kinase, Is Mutated in a Form of Recessive Ataxia Associated with Coenzyme Q 10 Deficiency

Authors: Lagier-Tourenne, Clotilde, Tazir, Meriem, López, Luis Carlos, Quinzii, Catarina M., Assoum, Mirna, Drouot, Nathalie, Busso, Cleverson, Makri, Samira, Ali-Pacha, Lamia, Benhassine, Traki, Anheim, Mathieu, Lynch, David R., Thibault, Christelle, Plewniak, Frédéric, Bianchetti, Laurent, Tranchant, Christine, Poch, Olivier, DiMauro, Salvatore, Mandel, Jean-Louis, Barros, Mario H., Hirano, Michio, Koenig, Michel

Source: In The American Journal of Human Genetics 2008 82(3):661-672

Prenatal exome sequencing and chromosomal microarray analysis in fetal structural anomalies in a highly consanguineous population reveals a propensity of ciliopathy genes causing multisystem phenotypes.

Authors: 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

Source: Human Genetics; Jan2022, Vol. 141 Issue 1, p101-126, 26p

Subject Terms: FETAL abnormalities, CILIOPATHY, CONSANGUINITY, PRENATAL genetic testing, EXOMES, MOLECULAR diagnosis, PHENOTYPES

Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations.

Authors: Lefebvre, Mathilde, Bruel, Ange-Line, Tisserant, Emilie, Bourgon, Nicolas, Duffourd, Yannis, Collardeau-Frachon, Sophie, Attie-Bitach, Tania, Kuentz, Paul, assoum, Mirna, Schaefer, Elise, El Chehadeh, Salima, Antal, Maria Cristina, Kremer, Valérie, Girard-Lemaitre, Françoise, Mandel, Jean-Louis, Lehalle, Daphne, Nambot, Sophie, Jean-Marçais, Nolwenn, Houcinat, Nada, Moutton, Sébastien

Source: Journal of Medical Genetics; Jun2021, Vol. 58 Issue 6, p400-413, 14p

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Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability

Authors: Chevarin, Martin, Duffourd, Yannis, A. Barnard, Rebecca, Moutton, Sébastien, Lecoquierre, Francois, Daoud, Fatma, Kuentz, Paul, Cabret, Caroline, Thevenon, Julien, Gautier, Elodie, Callier, Patrick, St-Onge, Judith, Jouan, Thibaud, Lacombe, Didier, Delrue, Marie Ange, Goizet, Cyril, Morice-Picard, Fanny, Van-Gils, Julien, Munnich, Arnold, Lyonnet, Stanislas, Cormier-Daire, Valérie, Baujat, Geneviève, Holder, Muriel, Petit, Florence, Leheup, Bruno, Odent, Sylvie, Jouk, Pierre-Simon, Lopez, Gipsy, Geneviève, David, Collignon, Patrick, Martin-Coignard, Dominique, Jacquette, Aurélia, Perrin, Laurence, Putoux, Audrey, Sarrazin, Elisabeth, Amarof, Khadija, Missotte, Isabelle, Coubes, Christine, Jagadeesh, Sujatha, Lapi, Elisabetta, Demurger, Florence, Goldenberg, Alice, Doco-Fenzy, Martine, Mignot, Cyril, Héron, Delphine, Jean-Marcais, Nolwenn, Masurel, Alice, El Chehadeh, Salima, Marle, Nathalie, Huet, Frédéric, Binquet, Christine, Collod-Beroud, Gwenae¨lle, Arnaud, Pauline, Hanna, Nadine, Boileau, Catherine, Jondeau, Guillaume, Olaso, Robert, Lechner, Doris, Poe, Charlotte, Assoum, Mirna, Carmignac, Virginie, Duplomb, Laurence, Tran Mau-Them, Frédéric, Philippe, Christophe, Vitobello, Antonio, Bruel, Ange-Line, Boland, Anne, Deleuze, Jean-Francois, Thauvin-Robinet, Christel, Rivière, Jean-Baptiste, O'Roak, Brian J, Faivre, Laurence

Source: Journal of Medical Genetics (JMG); 2020, Vol. 57 Issue: 7 p466-474, 9p

Increased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencing

Authors: 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

Source: European Journal of Human Genetics: EJHG; October 2019, Vol. 27 Issue: 10 p1519-1531, 13p

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Mutations in ABHD12 Cause the Neurodegenerative Disease PHARC: An Inborn Error of Endocannabinoid Metabolism

Authors: 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.

Source: In The American Journal of Human Genetics 10 September 2010 87(3):410-417

Targeted Next-Generation Sequencing of a 12.5 Mb Homozygous Region Reveals ANO10 Mutations in Patients with Autosomal-Recessive Cerebellar Ataxia

Authors: 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

Source: In The American Journal of Human Genetics 2010 87(6):813-819