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Retrospective study on the utility of optical genome mapping as a follow-up method in genetic diagnostics Dremsek, Paul; Schachner, Anna; Reischer, Theresa; Krampl-Bettelheim, Elisabeth; Bettelheim, Dieter; Vrabel, Sybille; Delissen, Zoja; Pfeifer, Mateja; Weil, Beatrix; Bajtela, Robert; Hengstschlaeger, Markus; Laccone, Franco; Neesen, Juergen 分享 收藏
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Developmental, Cognitive, Ocular Motor, and Neuroimaging Findings Related to SUFU Haploinsufficiency: Unraveling Subtle and Highly Variable Phenotypes Siegert, Sandy; Grisold, Anna; Pal-Handl, Katharina; Lilja, Stephanie; Kepa, Sylvia; Silvaieh, Sara; Laccone, Franco; Wiest, Gerald; Pogledic, Ivana; Schmook, Maria T.; Boltshauser, Eugen; Schmidt, Wolfgang M.; Krenn, Martin 分享 收藏
Epigenomic and phenotypic characterization of DEGCAGS syndrome Karimi, Karim; Weis, Denisa; Aukrust, Ingvild; Hsieh, Tzung-Chien; Horackova, Marie; Paulsen, Julie; Mendoza Londono, Roberto; Dupuis, Lucie; Dickson, Megan; Lesman, Hellen; Lau, Tracy; Murphy, David; Hama Salih, Khalid; Al-Musawi, Bassam M. S.; Al-Obaidi, Ruqayah G. Y.; Rydzanicz, Malgorzata; Biela, Mateus; Santos, Mafalda Saraiva; Aldeeri, Abdulrahman; Gazda, Hanna T.; Pais, Lynn; Shril, Shirlee; Dollner, Henrik; Bartakke, Sandip; Laccone, Franco; Soltysova, Andrea; Kitzler, Thomas; Soliman, Neveen A.; Relator, Raissa; Levy, Michael A.; Kerkhof, Jennifer; Rzasa, Jessica; Houlden, Henry; Pilshofer, Gabriela V.; Jobst-Schwan, Tilman; Hildebrandt, Friedhelm; Sousa, Sergio B.; Maroofian, Reza; Yu, Timothy W.; Krawitz, Peter; Sadikovic, Bekim; Douzgou Houge, Sofia 分享 收藏
Aneuploidy detection in pooled polar bodies using rapid nanopore sequencing Madritsch, Silvia; Arnold, Vivienne; Haider, Martha; Bosenge, Julia; Pfeifer, Mateja; Weil, Beatrix; Zechmeister, Manuela; Hengstschlaeger, Markus; Neesen, Juergen; Laccone, Franco 分享 收藏
Tracheal agenesis versus tracheal atresia: anatomical conditions, pathomechanisms and causes with a possible link to a novel MAPK11 variant in one case Pfeifer, Mateja; Rehder, Helga; Gerykova Bujalkova, Maria; Bartsch, Christine; Fritz, Barbara; Knopp, Cordula; Beckers, Bjoern; Dohle, Frank; Meyer-Wittkopf, Matthias; Axt-Fliedner, Roland; Beribisky, Alexander V.; Hofer, Manuel; Laccone, Franco; Schoner, Katharina 分享 收藏
Novel patients with NHLRC2 variants expand the phenotypic spectrum of FINCA disease Tallgren, Antti; Kager, Leo; O'Grady, Gina; Tuominen, Hannu; Korkko, Jarmo; Kuismin, Outi; Feucht, Martha; Wilson, Callum; Behunova, Jana; England, Eleina; Kurki, Mitja I.; Palotie, Aarno; Hallman, Mikko; Kaarteenaho, Riitta; Laccone, Franco; Boztug, Kaan; Hinttala, Reetta; Uusimaa, Johanna 分享 收藏
Brain malformations in diprosopia observed in clinical cases, museum specimens and artistic representations Rehder, Helga; Kircher, Susanne G.; Schoner, Katharina; Smogavec, Mateja; Behunova, Jana; Ihm, Ulrike; Plassmann, Margit; Hofer, Manuel; Ringl, Helmut; Laccone, Franco 分享 收藏
A homozygous AP3D1 missense variant in patients with sensorineural hearing loss as the leading manifestation Frohne, Alexandra; Koenighofer, Martin; Cetin, Hakan; Nieratschker, Michael; Liu, David T.; Laccone, Franco; Neesen, Juergen; Nemec, Stefan F.; Schwarz-Nemec, Ursula; Schoefer, Christian; Avraham, Karen B.; Frei, Klemens; Grabmeier-Pfistershammer, Katharina; Kratzer, Bernhard; Schmetterer, Klaus; Pickl, Winfried F.; Parzefall, Thomas 分享 收藏
Outcome after Prenatal Diagnosis of Trisomy 13, 18, and 21 in Fetuses with Congenital Heart Disease Springer, Stephanie; Karner, Eva; Worda, Christof; Grabner, Maria Magdalena; Seidl-Mlczoch, Elisabeth; Laccone, Franco; Neesen, Juergen; Scharrer, Anke; Ulm, Barbara 分享 收藏
TAT-MeCP2 protein variants rescue disease phenotypes in human and mouse models of Rett syndrome Steinkellner, Hannes; Kempaiah, Prakasha; Beribisky, Alexander, V; Pferschy, Sandra; Etzler, Julia; Huber, Anna; Sarne, Victoria; Neuhaus, Winfried; Kuttke, Mario; Bauer, Jan; Arunachalam, Jayamuruga P.; Christodoulou, John; Dressel, Ralf; Mildner, Alexander; Prinz, Marco; Laccone, Franco 分享 收藏
Singleton exome sequencing of 90 fetuses with ultrasound anomalies revealing novel disease-causing variants and genotype-phenotype correlations Smogavec, Mateja; Bujalkova, Maria Gerykova; Lehner, Reinhard; Neesen, Juergen; Behunova, Jana; Yerlikaya-Schatten, Guelen; Reischer, Theresa; Altmann, Reinhard; Weis, Denisa; Duba, Hans-Christoph; Laccone, Franco 分享 收藏
Clinical Phenotype and Bone Biopsy Characteristics in a Child with Proteus Syndrome Al Kaissi, Ali; Misof, Barbara M.; Laccone, Franco; Blouin, Stephane; Roschger, Paul; Kircher, Susanne G.; Shboul, Mohammad; Mindler, Gabriel T.; Girsch, Werner; Ganger, Rudolf 分享 收藏
A Novel Variant in the TBC1D24 Lipid-Binding Pocket Causes Autosomal Dominant Hearing Loss: Evidence for a Genotype-Phenotype Correlation TBC1D24脂质结合袋中的一种新变体导致常染色体显性听力损失: 基因型-表型相关性的证据 Parzefall, Thomas; Frohne, Alexandra; Koenighofer, Martin; Neesen, Juergen; Laccone, Franco; Eckl-Dorna, Julia; Waters, Jonathan J.; Schreiner, Markus; Amr, Sami Samir; Ashton, Emma; Schoefer, Christian; Gstoettner, Wolfgang; Frei, Klemens; Lucas, Trevor 分享 收藏
Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia Khan, Kamal; Zech, Michael; Morgan, Angela T.; Amor, David J.; Skorvanek, Matej; Khan, Tahir N.; Hildebrand, Michael S.; Jackson, Victoria E.; Scerri, Thomas S.; Coleman, Matthew; Rigbye, Kristin A.; Scheffer, Ingrid E.; Bahlo, Melanie; Wagner, Matias; Lam, Daniel D.; Berutti, Riccardo; Havrankova, Petra; Fecikova, Anna; Strom, Tim M.; Han, Vladimir; Dosekova, Petra; Gdovinova, Zuzana; Laccone, Franco; Jameel, Muhammad; Mooney, Marie R.; Baig, Shahid M.; Jech, Robert; Davis, Erica E.; Katsanis, Nicholas; Winkelmann, Juliane 分享 收藏
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An electrochemiluminescence based assay for quantitative detection of endogenous and exogenously applied MeCP2 protein variants Steinkellner, Hannes; Schoenegger, Anna; Etzler, Julia; Kempaiah, Prakasha; Huber, Anna; Hahn, Kathrin; Rose, Katrin; Duerr, Mark; Christodoulou, John; Beribisky, Alexander V.; Neuhaus, Winfried; Laccone, Franco 分享 收藏
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