1
TITLE: A de novo paradigm for male infertility
AUTHORS: Oud M.S.; Smits R.M.; Smith H.E.; Mastrorosa F.K.; Holt G.S.; Houston B.J.; de Vries P.F.; Alobaidi B.K.S.; Batty L.E.; Ismail H.; Greenwood J.; Sheth H.; Mikulasova A.; Astuti G.D.N.; Gilissen C.; McEleny K.; Turner H.; Coxhead J.; Cockell S.; Braat D.D.M.; Fleischer K.; D’Hauwers K.W.M.; Schaafsma E.; Donald F Conrad; Douglas T Carrell; James M Hotaling; Timothy G Jenkins; Rob McLachlan; Moira K O’Bryan; Moira K O’Bryan; Peter N Schlegel; Michael L Eisenberg; Jay I Sandlow; Emily S Jungheim; Kenan R Omurtag; Alexandra M Lopes ; Susana Seixas; Filipa Carvalho ; Susana Fernandes; Alberto Barros ; João Gonçalves; Iris Caetano; Graça Pinto; Sónia Correia; Maris Laan; Margus Punab; Ewa Rajpert De Meyts; Niels Jørgensen; Kristian Almstrup; Csilla G Krausz; Keith A Jarvi; Nagirnaja L.; Nagirnaja L.; Conrad D.F.; Friedrich C.; Kliesch S.; Aston K.I.; Aston K.I.; Riera-Escamilla A.; Krausz C.; Gonzaga-Jauregui C.; Santibanez-Koref M.; Elliott D.J.; Vissers L.E.L.M.; Tüttelmann F.; Ramos L.; Xavier M.J.; van der Heijden G.W.; Veltman J.A.; ...More
PUBLISHED: 2022, SOURCE: Nature Communications, VOLUME: 13, ISSUE: 1
INDEXED IN: Scopus CrossRef: 34
2
TITLE: Bi-allelic Mutations in M1AP Are a Frequent Cause of Meiotic Arrest and Severely Impaired Spermatogenesis Leading to Male Infertility
AUTHORS: Wyrwoll, MJ; Temel, SG; Nagirnaja, L; Oud, MS; Lopes, AM ; van der Heijden, GW; Heald, JS; Rotte, N; Wistuba, J; Woste, M; Ledig, S; Krenz, H; Smits, RM; Carvalho, F ; Goncalves, J; Fietz, D; Turkgenc, B; Ergoren, MC; Cetinkaya, M; Basar, M; Kahraman, S; McEleny, K; Xavier, MJ; Turner, H; Pilatz, A; Ropke, A; Dugas, M; Kliesch, S; Neuhaus, N; Aston, KI; Conrad, DF; Veltman, JA; Friedrich, C; Tuttelmann, F; ...More
PUBLISHED: 2020, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 107, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef: 65
3
TITLE: Genetic dissection of spermatogenic arrest through exome analysis: clinical implications for the management of azoospermic men
AUTHORS: Csilla Krausz; Antoni Riera Escamilla; Daniel Moreno Mendoza; Kaylee Holleman; Francesca Cioppi; Ferran Algaba; Marc Pybus; Corinna Friedrich; Margot J Wyrwoll; Elena Casamonti; Sara Pietroforte; Liina Nagirnaja; Alexandra M Lopes ; Sabine Kliesch; Adrian Pilatz; Douglas T Carrell; Donald F Conrad; Elisabet Ars; Eduard Ruiz Castane; Kenneth I Aston; Willy M Baarends; Frank Tuettelmann; ...More
PUBLISHED: 2020, SOURCE: GENETICS IN MEDICINE
INDEXED IN: Scopus WOS
4
TITLE: Bi-allelic Recessive Loss-of-Function Variants in FANCM Cause Non-obstructive Azoospermia
AUTHORS: Laura Kasak; Margus Punab; Liina Nagirnaja; Marina Grigorova; Ave Minajeva; Alexandra M Lopes; Anna Maria Punab; Kenneth I Aston; Filipa Carvalho ; Eve Laasik; Lee B Smith; Donald F Conrad; Maris Laan;
PUBLISHED: 2018, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 103, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef: 90
5
TITLE: A Standardized Approach for Multispecies Purification of Mammalian Male Germ Cells by Mechanical Tissue Dissociation and Flow Cytometry
AUTHORS: Ana C Lima; Min Jung; Jannette Rusch; Abul Usmani; Alexandra M Lopes; Donald F Conrad;
PUBLISHED: 2017, SOURCE: JOVE-JOURNAL OF VISUALIZED EXPERIMENTS, VOLUME: 2017, ISSUE: 125
INDEXED IN: Scopus WOS CrossRef: 2
6
TITLE: Multispecies Purification of Testicular Germ Cells
AUTHORS: Ana C Lima; Min Jung; Jannette Rusch; Abul Usmani; Alexandra M Lopes; Donald F Conrad;
PUBLISHED: 2016, SOURCE: BIOLOGY OF REPRODUCTION, VOLUME: 95, ISSUE: 4
INDEXED IN: Scopus WOS CrossRef: 4