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Author/Creator Motameny, Susanne

1. Comprehensive molecular analysis of 61 Egyptian families with hereditary nonsyndromic hearing loss. Issue 1 (23rd April 2020)

Authors:
Budde, Birgit S.; Aly, Maha Abdelgaber; Mohamed, Mostafa R.; Breß, Andreas; Altmüller, Janine; Motameny, Susanne; Kawalia, Amit; Thiele, Holger; Konrad, Kathryn; Becker, Christian; Toliat, Mohammad R.; Nürnberg, Gudrun; Sayed, Eman Abdel Fattah; Mohamed, Enass Sayed; Pfister, Markus; Nürnberg, Peter
Journal:
Clinical genetics
Issue:
Volume 98:Issue 1(2020)
Page Start:
32
Record Type:
Journal Article
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3. Genomic variants causing mitochondrial dysfunction are common in hereditary lower motor neuron disease. Issue 4 (3rd March 2021)

Authors:
Keller, Natalie; Paketci, Cem; Altmueller, Janine; Fuhrmann, Nico; Wunderlich, Gilbert; Schrank, Bertold; Unver, Olcay; Yilmaz, Sanem; Boostani, Reza; Karimiani, Ehsan Ghayoor; Motameny, Susanne; Thiele, Holger; Nürnberg, Peter; Maroofian, Reza; Yis, Uluc; Wirth, Brunhilde; Karakaya, Mert
Journal:
Human mutation
Issue:
Volume 42:Issue 4(2021)
Page Start:
460
Record Type:
Journal Article
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4. Long‐lived macrophage reprogramming drives spike protein‐mediated inflammasome activation in COVID‐19. Issue 8 (16th June 2021)

Authors:
Theobald, Sebastian J; Simonis, Alexander; Georgomanolis, Theodoros; Kreer, Christoph; Zehner, Matthias; Eisfeld, Hannah S; Albert, Marie‐Christine; Chhen, Jason; Motameny, Susanne; Erger, Florian; Fischer, Julia; Malin, Jakob J; Gräb, Jessica; Winter, Sandra; Pouikli, Andromachi; David, Friederi...
Journal:
EMBO molecular medicine
Issue:
Volume 13:Issue 8(2021)
Page Start:
n/a
Record Type:
Journal Article
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5. Mutations of KIF14 cause primary microcephaly by impairing cytokinesis. Issue 4 (14th October 2017)

Authors:
Moawia, Abubakar; Shaheen, Ranad; Rasool, Sajida; Waseem, Syeda Seema; Ewida, Nour; Budde, Birgit; Kawalia, Amit; Motameny, Susanne; Khan, Kamal; Fatima, Ambrin; Jameel, Muhammad; Ullah, Farid; Akram, Talia; Ali, Zafar; Abdullah, Uzma; Irshad, Saba; Höhne, Wolfgang; Noegel, Angelika Anna; Al‐Owai...
Journal:
Annals of neurology
Issue:
Volume 82:Issue 4(2017)
Page Start:
562
Record Type:
Journal Article
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6. SSBP1 mutations in dominant optic atrophy with variable retinal degeneration. Issue 3 (31st July 2019)

Authors:
Jurkute, Neringa; Leu, Costin; Pogoda, Hans‐Martin; Arno, Gavin; Robson, Anthony G.; Nürnberg, Gudrun; Altmüller, Janine; Thiele, Holger; Motameny, Susanne; Toliat, Mohammad Reza; Powell, Kate; Höhne, Wolfgang; Michaelides, Michel; Webster, Andrew R.; Moore, Anthony T.; Hammerschmidt, Matthias; N...
Journal:
Annals of neurology
Issue:
Volume 86:Issue 3(2019)
Page Start:
368
Record Type:
Journal Article
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7. Targeted sequencing with expanded gene profile enables high diagnostic yield in non‐5q‐spinal muscular atrophies. Issue 9 (25th July 2018)

Authors:
Karakaya, Mert; Storbeck, Markus; Strathmann, Eike A.; Delle Vedove, Andrea; Hölker, Irmgard; Altmueller, Janine; Naghiyeva, Leyla; Schmitz‐Steinkrüger, Lea; Vezyroglou, Katharina; Motameny, Susanne; Alawbathani, Salem; Thiele, Holger; Polat, Ayse Ipek; Okur, Derya; Boostani, Reza; Karimiani, Ehs...
Journal:
Human mutation
Issue:
Volume 39:Issue 9(2018)
Page Start:
1284
Record Type:
Journal Article
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8. The recurrent postzygotic pathogenic variant p.Glu47Lys in RHOA causes a novel recognizable neuroectodermal phenotype. Issue 3 (24th December 2019)

Authors:
Yigit, Gökhan; Saida, Ken; DeMarzo, Danielle; Miyake, Noriko; Fujita, Atsushi; Yang Tan, Tiong; White, Susan M.; Wadley, Alexandrea; Toliat, Mohammad R.; Motameny, Susanne; Franitza, Marek; Stutterd, Chloe A.; Chong, Pin F.; Kira, Ryutaro; Sengoku, Toru; Ogata, Kazuhiro; Guillen Sacoto, Maria J.;...
Journal:
Human mutation
Issue:
Volume 41:Issue 3(2020)
Page Start:
591
Record Type:
Journal Article
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9. The role of de novo mutations in the development of amyotrophic lateral sclerosis. Issue 11 (3rd August 2017)

Authors:
van Doormaal, Perry T.C.; Ticozzi, Nicola; Weishaupt, Jochen H.; Kenna, Kevin; Diekstra, Frank P.; Verde, Federico; Andersen, Peter M.; Dekker, Annelot M.; Tiloca, Cinzia; Marroquin, Nicolai; Overste, Daniel J.; Pensato, Viviana; Nürnberg, Peter; Pulit, Sara L.; Schellevis, Raymond D.; Calini, Da...
Journal:
Human mutation
Issue:
Volume 38:Issue 11(2017)
Page Start:
1534
Record Type:
Journal Article
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10. Ultra‐rapid emergency genomic diagnosis of Donahue syndrome in a preterm infant within 17 hours. Issue 1 (13th October 2020)

Authors:
Bamborschke, Daniel; Özdemir, Özkan; Kreutzer, Mona; Motameny, Susanne; Thiele, Holger; Kribs, Angela; Dötsch, Jörg; Altmüller, Janine; Nürnberg, Peter; Cirak, Sebahattin
Journal:
American journal of medical genetics
Issue:
Volume 185:Issue 1(2021)
Page Start:
90
Record Type:
Journal Article
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