Christoph Hübner - Publications, H-index & Citations

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Christoph Hübner

Technische Universität Dresden

45H-index

185Paper Count

6.6KCitation Count

Published Papers 33

Publication Date

Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function

Nature Genetics

IF29

2025-10-22

OAAI

Reza Asadollahi; Aisha Ahmad; Paranchai Boonsawat; Jasmine Shahanoor Hinzen; Mareike Lohse; Boris Bouazza-Arostegui; Siqi Sun; Tillmann Utesch; Jonas D. Sommer; Dragana Ilic; Murugesh Padmanarayana; Kati Fischermanns; Mrinalini Ranjan; Moritz Boll; Chandran Ka; Amélie Piton; Francesca Mattioli; Bertrand Isidor; Katrin Õunap; Karit Reinson; Monica H. Wojcik; Christian R. Marshall; Saadet Mercimek-Andrews; Naomichi Matsumoto; Noriko Miyake; Bruno de Oliveira Stephan; Rachel Sayuri Honjo; Debora R. Bertola; Chong Ae Kim; Roman Yusupov; Heather C. Mefford; John Christodoulou; Joy Lee; Oliver Heath; Natasha J. Brown; Naomi Baker; Zornitza Stark; Martin Delatycki; Nicole J. Lake; Shimriet Zeidler; Linda Zuurbier; Saskia M. Maas; Chris C. de Kruiff; Farrah Rajabi; Lance H. Rodan; Stephanie A. Coury; Konrad Platzer; Henry Oppermann; Rami Abou Jamra; Skadi Beblo; Caroline Maxton; Robert Śmigiel; Hunter Underhill; Holly Dubbs; Alyssa Rosen; Katherine L. Helbig; Ingo Helbig; Sarah McKeown Ruggiero; Mark P. Fitzgerald; Dennis Kraemer; Carlos E. Prada; Jeffrey Tenney; Parul Jayakar; Sylvia Redon; Jérémie Lefranc; Kevin Uguen; Simone Race; Stephanie Efthymiou; Reza Maroofian; Henry Houlden; Sandra Coppens; Nicolas Deconinck; Balasubramaniem Ashokkumar; Perumal Varalakshmi; Vykunta Raju Gowda K; Fatemeh Eghbal; Ehsan Ghayoor Karimiani; Morteza Heidari; John Neidhardt; Marta Owczarek-Lipska; G. Christoph Korenke; Michael J. Bamshad; Philippe M. Campeau; Anna Lehman; Laura G. Hendon; Ingrid M. Wentzensen; Kristin G. Monaghan; Yanmin Chen; Anna Szuto; Ronald D. Cohn; Ping Yee Billie Au; Christoph Hübner; Felix Boschann; Kandamurugu Manickam; Daniel C. Koboldt; Aboulfazl Rad; Gabriela Oprea; Kristine K. Bachman; Andrea H. Seeley; Emanuele Agolini; Alessandra Terracciano; Piscopo Carmelo; Caleb Bupp; Bethany Grysko; Annick Rein-Rothschild; Bruria Ben Zeev; Amy Margolin; Jennifer Morrison; Aditi Dagli; Elliot Stolerman; Raymond J. Louie; Camerun Washington; Servi J. C. Stevens; Malou Heijligers; Fowzan S. Alkuraya; Jasmin Lisfeld; Axel Neu; Fabíola Paoli Monteiro; André Luiz Santos Pessoa; Antonio Edvan Camelo-Filho; Fernando Kok; Dwight Koeberl; Kacie Riley; Lydie Burglen; Diane Doummar; Bénédicte Héron; Cyril Mignot; Boris Keren; Perrine Charles; Caroline Nava; Felix P. Bernhard; Andrea A. Kühn; Sven Thoms; Ryan D. Morrie; Shila Mekhoubad; Eric M. Green; Sami J. Barmada; Aaron D. Gitler; Olaf Jahn; Jeong Seop Rhee; Christian Rosenmund; Mišo Mitkovski; Heinrich Sticht; Han Sun; Gerald Le Gac; Holger Taschenberger; Nils Brose; Jeremy S. Dittman; Anita Rauch; Noa Lipstein

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De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias (vol 25, 100927, 2023)

GENETICS IN MEDICINE

IF6.2

2023-11-01

OAAI

Harms, Frederike L.; Dingemans, Alexander J. M.; Hempel, Maja; Pfundt, Rolph; Bierhals, Tatjana; Casar, Christian; Mueller, Christian; Niermeijer, Jikke-Mien F.; Fischer, Jan; Jahn, Arne; Huebner, Christoph; Majore, Silvia; Agolini, Emanuele; Novelli, Antonio; van der Smagt, Jasper; Ernst, Robert; van Binsbergen, Ellen; Mancini, Grazia M. S.; van Slegtenhorst, Marjon; Barakat, Tahsin Stefan; Wakeling, Emma L.; Kamath, Arveen; Downie, Lilian; Pais, Lynn; White, Susan M.; de Vries, Bert B. A.; Kutsche, Kerstin

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De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias

GENETICS IN MEDICINE

IF6.2

2023-10-01

PREAI

Harms, Frederike L.; Dingemans, Alexander J. M.; Hempel, Maja; Pfundt, Rolph; Bierhals, Tatjana; Casar, Christian; Mueller, Christian; Niermeijer, Jikke-Mien F.; Fischer, Jan; Jahn, Arne; Huebner, Christoph; Majore, Silvia; Agolini, Emanuele; Novelli, Antonio; Van der Smagt, Jasper; Ernst, Robert; Van Binsbergen, Ellen; Mancini, Grazia M. S.; Van Slegtenhorst, Marjon; Barakat, Tahsin S.; Wakeling, Emma L.; Kamath, Arveen; Downie, Lilian; Pais, Lynn; White, Susan M.; de Vries, Bert B. A.; Kutsche, Kerstin

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Homozygous ARHGEF2 mutation causes intellectual disability and midbrain-hindbrain malformation

PLOS GENETICS

IF3.7

2017-04-28

OAAI

Ravindran, Ethiraj; Hu, Hao; Yuzwa, Scott A.; Hernandez-Miranda, Luis R.; Kraemer, Nadine; Ninnemann, Olaf; Musante, Luciana; Boltshauser, Eugen; Schindler, Detlev; Huebner, Angela; Reinecker, Hans-Christian; Ropers, Hans-Hilger; Birchmeier, Carmen; Miller, Freda D.; Wienker, Thomas F.; Huebner, Christoph; Kaindl, Angela M.

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Kluver-Bucy syndrome associated with a recessive variant in HGSNAT in two siblings with Mucopolysaccharidosis type IIIC (Sanfilippo C)

EUROPEAN JOURNAL OF HUMAN GENETICS

IF4.6

2016-11-09

OAAI

Hu, Hao; Huebner, Christoph; Lukacs, Zoltan; Musante, Luciana; Gill, Esther; Wienker, Thomas F.; Ropers, Hans-Hilger; Knierim, Ellen; Schuelke, Markus

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Homozygous YME1L1 Mutation Causes Mitochondriopathy with Optic Atrophy and Mitochondrial Network Fragmentation

ELIFE

IF0

2016-08-06

102

OAAI

Hartmann, Bianca; Wai, Timothy; Hu, Hao; MacVicar, Thomas; Musante, Luciana; Fischer-Zirnsak, Bjoern; Stenzel, Werner; Graef, Ralph; van den Heuvel, Lambert; Ropers, Hans-Hilger; Wienker, Thomas F.; Huebner, Christoph; Langer, Thomas; Kaindl, Angela M.

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Mutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2016-03-01

OAAI

Knierim, Ellen; Hirata, Hiromi; Wolf, Nicole I.; Morales-Gonzalez, Susanne; Schottmann, Gudrun; Tanaka, Yu; Rudnik-Schoeneborn, Sabine; Orgeur, Mickael; Zerres, Klaus; Vogt, Stefanie; van Riesen, Anne; Gill, Esther; Seifert, Franziska; Zwirner, Angelika; Kirschner, Janbernd; Goebel, Hans Hilmar; Huebner, Christoph; Stricker, Sigmar; Meierhofer, David; Stenzel, Werner; Schuelke, Markus

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Redefining the MED13L syndrome

EUROPEAN JOURNAL OF HUMAN GENETICS

IF4.6

2015-03-11

OAAI

Adegbola, Abidemi; Musante, Luciana; Callewaert, Bert; Maciel, Patricia; Hu, Hao; Isidor, Bertrand; Picker-Minh, Sylvie; Le Caignec, Cedric; Delle Chiaie, Barbara; Vanakker, Olivier; Menten, Bjorn; Dheedene, Annelies; Bockaert, Nele; Roelens, Filip; Decaestecker, Karin; Silva, Joao; Soares, Gabriela; Lopes, Fatima; Najmabadi, Hossein; Kahrizi, Kimia; Cox, Gerald F.; Angus, Steven P.; Staropoli, John F.; Fischer, Ute; Suckow, Vanessa; Bartsch, Oliver; Chess, Andrew; Ropers, Hans-Hilger; Wienker, Thomas F.; Hubner, Christoph; Kaindl, Angela M.; Kalscheuer, Vera M.

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Mutations in PTRH2 cause novel infantile-onset multisystem disease with intellectual disability, microcephaly, progressive ataxia, and muscle weakness

ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY

IF3.9

2014-12-03

OAAI

Hu, Hao; Matter, Michelle L.; Issa-Jahns, Lina; Jijiwa, Mayumi; Kraemer, Nadine; Musante, Luciana; de la Vega, Michelle; Ninnemann, Olaf; Schindler, Detlev; Damatova, Natalia; Eirich, Katharina; Sifringer, Marco; Schroetter, Sandra; Eickholt, Britta J.; van den Heuvel, Lambert; Casamina, Chanel; Stoltenburg-Didinger, Gisela; Ropers, Hans-Hilger; Wienker, Thomas F.; Huebner, Christoph; Kaindl, Angela M.

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Large homozygous RAB3GAP1 gene microdeletion causes Warburg Micro Syndrome 1

ORPHANET JOURNAL OF RARE DISEASES

IF3.5

2014-10-21

OAAI

Picker-Minh, Sylvie; Busche, Andreas; Hartmann, Britta; Spors, Birgit; Klopocki, Eva; Huebner, Christoph; Horn, Denise; Kaindl, Angela M.

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Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrum

JOURNAL OF MEDICAL GENETICS

IF3.7

2014-04-08

OAAI

Thorwarth, Anne; Schnittert-Huebener, Sarah; Schrumpf, Pamela; Mueller, Ines; Jyrch, Sabine; Dame, Christof; Biebermann, Heike; Kleinau, Gunnar; Katchanov, Juri; Schuelke, Markus; Ebert, Grit; Steininger, Anne; Boennemann, Carsten; Brockmann, Knut; Christen, Hans-Juergen; Crock, Patricia; deZegher, Francis; Griese, Matthias; Hewitt, Jacqueline; Ivarsson, Sten; Huebner, Christoph; Kapelari, Klaus; Plecko, Barbara; Rating, Dietz; Stoeva, Iva; Ropers, Hans-Hilger; Grueters, Annette; Ullmann, Reinhard; Krude, Heiko

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Previously reported new type of autosomal recessive primary microcephaly is caused by compound heterozygous ASPM gene mutations

CELL CYCLE

IF3.4

2014-04-01

OAAI

Hu, Hao; Suckow, Vanessa; Musante, Luciana; Roggenkamp, Viola; Kraemer, Nadine; Ropers, Hans-Hilger; Huebner, Christoph; Wienker, Thomas F.; Kaindl, Angela M.

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POMK mutation in a family with congenital muscular dystrophy with merosin deficiency, hypomyelination, mild hearing deficit and intellectual disability

JOURNAL OF MEDICAL GENETICS

IF3.7

2014-02-20

PREAI

von Renesse, Anja; Petkova, Mina V.; Luetzkendorf, Susanne; Heinemeyer, Jan; Gill, Esther; Huebner, Christoph; von Moers, Arpad; Stenzel, Werner; Schuelke, Markus

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ZC4H2 Mutations Are Associated with Arthrogryposis Multiplex Congenita and Intellectual Disability through Impairment of Central and Peripheral Synaptic Plasticity

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2013-05-01

OAAI

Hirata, Hiromi; Nanda, Indrajit; van Riesen, Anne; McMichael, Gai; Hu, Hao; Hambrock, Melanie; Papon, Marie-Amelie; Fischer, Ute; Marouillat, Sylviane; Ding, Can; Alirol, Servane; Bienek, Melanie; Preisler-Adams, Sabine; Grimme, Astrid; Seelow, Dominik; Webster, Richard; Haan, Eric; MacLennan, Alastair; Stenzel, Werner; Yap, Tzu Ying; Gardner, Alison; Lam Son Nguyen; Shaw, Marie; Lebrun, Nicolas; Haas, Stefan A.; Kress, Wolfram; Haaf, Thomas; Schellenberger, Elke; Chelly, Jamel; Viot, Geraldine; Shaffer, Lisa G.; Rosenfeld, Jill A.; Kramer, Nancy; Falk, Rena; El-Khechen, Dima; Escobar, Luis F.; Hennekam, Raoul; Wieacker, Peter; Huebner, Christoph; Ropers, Hans-Hilger; Gecz, Jozef; Schuelke, Markus; Laumonnier, Frederic; Kalscheuer, Vera M.

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Pontocerebellar hypoplasia type 1 Clinical spectrum and relevance of EXOSC3 mutations

NEUROLOGY

IF8.5

2013-01-29

OAAI

Rudnik-Schoeneborn, Sabine; Senderek, Jan; Jen, Joanna C.; Houge, Gunnar; Seeman, Pavel; Puchmajerova, Alena; Graul-Neumann, Luitgard; Seidel, Ulrich; Korinthenberg, Rudolf; Kirschner, Janbernd; Seeger, Juergen; Ryan, Monique M.; Muntoni, Francesco; Steinlin, Maja; Sztriha, Laszlo; Colomer, Jaume; Huebner, Christoph; Brockmann, Knut; Van Maldergem, Lionel; Schiff, Manuel; Holzinger, Andreas; Barth, Peter; Reardon, William; Yourshaw, Michael; Nelson, Stanley F.; Eggermann, Thomas; Zerres, Klaus

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The Natural Course of Infantile Spinal Muscular Atrophy With Respiratory Distress Type 1 (SMARD1)

PEDIATRICS

IF6.4

2012-01-01

PREAI

Eckart, Maria; Guenther, Ulf-Peter; Idkowiak, Jan; Varon, Raymonda; Grolle, Benjamin; Boffi, Patrizia; Van Maldergem, Lionel; Huebner, Christoph; Schuelke, Markus; von Au, Katja

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Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD)

NATURE GENETICS

IF31.8

2011-11-20

PREAI

Logan, Clare V.; Lucke, Barbara; Pottinger, Caroline; Abdelhamed, Zakia A.; Parry, David A.; Szymanska, Katarzyna; Diggle, Christine P.; van Riesen, Anne; Morgan, Joanne E.; Markham, Grace; Ellis, Ian; Manzur, Adnan Y.; Markham, Alexander F.; Shires, Mike; Helliwell, Tim; Scoto, Mariacristina; Huebner, Christoph; Bonthron, David T.; Taylor, Graham R.; Sheridan, Eamonn; Muntoni, Francesco; Carr, Ian M.; Schuelke, Markus; Johnson, Colin A.

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How different constituents of low density lipoprotein determine its oxidizability by copper: A correlational approach

FREE RADICAL RESEARCH

IF2.9

2009-07-07

PREAI

Kontush, A; Hubner, C; Finckh, B; Kohlschutter, A; Beisiegel, U

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HPGD mutations cause cranioosteoarthropathy but not autosomal dominant digital clubbing

EUROPEAN JOURNAL OF HUMAN GENETICS

IF4.6

2009-07-01

OAAI

Seifert, Wenke; Beninde, Julia; Hoffmann, Katrin; Lindner, Tom H.; Bassir, Christian; Aksu, Fuat; Huebner, Christoph; Verbeek, Nienke E.; Mundlos, Stefan; Horn, Denise

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Clinical and mutational profile in spinal muscular atrophy with respiratory distress (SMARD): Defining novel phenotypes through hierarchical cluster analysis

HUMAN MUTATION

IF3.7

2007-01-01

OAAI

Guenther, Ulf-Peter; Varon, Raymonda; Schlicke, Maria; Dutrannoy, Veronique; Volk, Alexander; Huebner, Christoph; von Au, Katja; Schuelke, Markus

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Research Directions