Not logged inContributions of Common Genetic Variants to Constitutional Delay of Puberty and Idiopathic Hypogonadotropic Hypogonadism
Lippincott, Margaret F.; Schafer, Evan C.; Hindman, Anna A.; He, Wen; Brauner, Raja; Delaney, Angela; Grinspon, Romina; Hall, Janet E.; Hirschhorn, Joel N.; McElreavey, Kenneth; Palmert, Mark R.; Rey, Rodolfo; Seminara, Stephanie B.; Salem, Rany M.; Chan, Yee-Ming .png)
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SaveAuthor Correction: Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects (vol 14, 3403, 2023)Ayers, Katie L.; Eggers, Stefanie; Rollo, Ben N.; Smith, Katherine R.; Davidson, Nadia M.; Siddall, Nicole A.; Zhao, Liang; Bowles, Josephine; Weiss, Karin; Zanni, Ginevra; Burglen, Lydie; Ben-Shachar, Shay; Rosensaft, Jenny; Raas-Rothschild, Annick; Jorgensen, Anne; Schittenhelm, Ralf B.; Huang, Cheng; Robevska, Gorjana; van den Bergen, Jocelyn; Casagranda, Franca; Cyza, Justyna; Pachernegg, Svenja; Wright, David K.; Bahlo, Melanie; Oshlack, Alicia; O'Brien, Terrence J.; Kwan, Patrick; Koopman, Peter; Hime, Gary R.; Girard, Nadine; Hoffmann, Chen; Shilon, Yuval; Zung, Amnon; Bertini, Enrico; Milh, Mathieu; Ben Rhouma, Bochra; Belguith, Neila; Bashamboo, Anu; McElreavey, Kenneth; Banne, Ehud; Weintrob, Naomi; BenZeev, Bruria; Sinclair, Andrew H. Share Save Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defectsAyers, Katie L.; Eggers, Stefanie; Rollo, Ben N.; Smith, Katherine R.; Davidson, Nadia M.; Siddall, Nicole A.; Zhao, Liang; Bowles, Josephine; Weiss, Karin; Zanni, Ginevra; Burglen, Lydie; Ben-Shachar, Shay; Rosensaft, Jenny; Raas-Rothschild, Annick; Jorgensen, Anne; Schittenhelm, Ralf B.; Huang, Cheng; Robevska, Gorjana; van den Bergen, Jocelyn; Casagranda, Franca; Cyza, Justyna; Pachernegg, Svenja; Wright, David K.; Bahlo, Melanie; Oshlack, Alicia; O'Brien, Terrence J.; Kwan, Patrick; Koopman, Peter; Hime, Gary R.; Girard, Nadine; Hoffmann, Chen; Shilon, Yuval; Zung, Amnon; Bertini, Enrico; Milh, Mathieu; Ben Rhouma, Bochra; Belguith, Neila; Bashamboo, Anu; MacElreavey, Kenneth; Banne, Ehud; Weintrob, Naomi; BenZeev, Bruria; Sinclair, Andrew H. Share Save Additional evidence for the role of chromosomal imbalances and SOX8, ZNRF3 and HHAT gene variants in early human testis developmentRjiba, Khouloud; Mougou-Zerelli, Soumaya; Hamida, Imen hadj; Saad, Ghada; Khadija, Bochra; Jelloul, Afef; Slimani, Wafa; Hasni, Yosra; Dimassi, Sarra; Ben Khelifa, Hela; Sallem, Amira; Kammoun, Molka; Abdallah, Hamza Hadj; Gribaa, Moez; Bignon-Topalovic, Joelle; Chelly, Sami; Khairi, Hedi; Bibi, Mohamed; Kacem, Maha; Saad, Ali; Bashamboo, Anu; McElreavey, Kenneth Share Save In vitro cellular reprogramming to model gonad development and its disordersGonen, Nitzan; Eozenou, Caroline; Mitter, Richard; Elzaiat, Maeva; Stevant, Isabelle; Aviram, Rona; Bernardo, Andreia Sofia; Chervova, Almira; Wankanit, Somboon; Frachon, Emmanuel; Commere, Pierre-Henri; Brailly-Tabard, Sylvie; Valon, Leo; Cano, Laura Barrio; Levayer, Romain; Mazen, Inas; Gobaa, Samy; Smith, James C.; McElreavey, Kenneth; Lovell-Badge, Robin; Bashamboo, Anu Share Save Whole Exome Sequencing allows the identification of two novel groups of Xeroderma pigmentosum in Tunisia, XP-D and XP-E: Impact on molecular diagnosisBen Rekaya, Mariem; Naouali, Chokri; Messaoud, Olfa; Jones, Meriem; Bouyacoub, Yosra; Nagara, Majdi; Pippucci, Tommaso; Jmel, Haifa; Chargui, Mariem; Jerbi, Manel; Alibi, Mohamed; Dallali, Hamza; Bashamboo, Anu; McElreavey, Kenneth; Romeo, Giovanni; Barakate, Abdelhamid; Zghal, Mohamed; Yacoub-Youssef, Houda; Abdelhak, Sonia Share Save Share Save Homozygous Mutations in VAMP1 Cause a Presynaptic Congenital Myasthenic SyndromeSalpietro, Vincenzo; Lin, Weichun; Delle Vedove, Andrea; Storbeck, Markus; Liu, Yun; Efthymiou, Stephanie; Manole, Andreea; Wiethoff, Sarah; Ye, Qiaohong; Saggar, Anand; McElreavey, Kenneth; Krishnakumar, Shyam S.; Pitt, Matthew; Bello, Oscar D.; Rothman, James E.; Basel-Vanagaite, Lina; Hubshman, Monika Weisz; Aharoni, Sharon; Manzur, Adnan Y.; Wirth, Brunhilde; Houlden, Henry Share Save An ancient protein-DNA interaction underlying metazoan sex determinationMurphy, Mark W.; Lee, John K.; Rojo, Sandra; Gearhart, Micah D.; Kurahashi, Kayo; Banerjee, Surajit; Loeuille, Guy-Andre; Bashamboo, Anu; McElreavey, Kenneth; Zarkower, David; Aihara, Hideki; Bardwell, Vivian J. Share Save Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathyMartin, Carol-Anne; Ahmad, Ilyas; Klingseisen, Anna; Hussain, Muhammad Sajid; Bicknell, Louise S.; Leitch, Andrea; Nuernberg, Gudrun; Toliat, Mohammad Reza; Murray, Jennie E.; Hunt, David; Khan, Fawad; Ali, Zafar; Tinschert, Sigrid; Ding, James; Keith, Charlotte; Harley, Margaret E.; Heyn, Patricia; Mueller, Rolf; Hoffmann, Ingrid; Cormier-Daire, Valerie; Dollfus, Helene; Dupuis, Lucie; Bashamboo, Anu; McElreavey, Kenneth; Kariminejad, Ariana; Mendoza-Londono, Roberto; Moore, Anthony T.; Saggar, Anand; Schlechter, Catie; Weleber, Richard; Thiele, Holger; Altmueller, Janine; Hoehne, Wolfgang; Hurles, Matthew E.; Noegel, Angelika Anna; Baig, Shahid Mahmood; Nuernberg, Peter; Jackson, Andrew P. Share Save 
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