Denise Horn - Publications, H-index & Citations

Denise Horn

charite - universitätsmedizin berlin

62H指数

364论文数

1.8W被引数

收录论文 104

发表时间

Correction: Hemizygous loss-of-function variants of EIF1AX are associated with a syndromic neurodevelopmental disorder 校正：EIF1AX基因半合子失活型变异与综合征性神经发育障碍相关

European Journal of Human Genetics

IF4.6

2026-09-11

PREAI

Kazuyuki Komatsu; Atsushi Sugie; Yohei Nitta; Jiro Osaka; Ummul Halilunnisa Mansoor Hussain; Mitsuru Kubota; Nobuyuki Shimozawa; Melissa T. Carter; Petra J. G. Zwijnenburg; Quinten Waisfisz; Felix Boschann; Denise Horn; Mitsuko Nakashima; Hirotomo Saitsu

A biallelic MRPL42 variant causes a combined oxidative phosphorylation deficiency syndrome revealed by multi-omics 一个双等位基因MRPL42变异导致一种复合氧化磷酸化缺陷综合征，该综合征由多组学分析揭示。

npj Genomic Medicine

IF4.8

2026-04-03

OAAI

Felix Boschann; Johannes Kopp; Susanne Römer; Oliver Küchler; Hristiana Lyubenova; Nicolai von Kügelgen; Erik Hertstein; Lea Hagelstein; Christian Becker; Kerstin Becker; Sebastian Brachs; Knut Mai; David Meierhofer; Dominik Seelow; Stefan Mundlos; Denise Horn; Markus Schuelke; Björn Fischer-Zirnsak

Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings 作者更正: 将下一代表型整合到超早期疾病患者的国家框架中，可改善遗传诊断并产生新的分子发现

Nature Genetics

IF0

2025-06-24

OAAI

Axel Schmidt; Magdalena Danyel; Kathrin Grundmann; Theresa Brunet; Hannah Klinkhammer; Tzung-Chien Hsieh; Hartmut Engels; Sophia Peters; Alexej Knaus; Shahida Moosa; Luisa Averdunk; Felix Boschann; Henrike Lisa Sczakiel; Sarina Schwartzmann; Martin Atta Mensah; Jean Tori Pantel; Manuel Holtgrewe; Annemarie Bösch; Claudia Weiß; Natalie Weinhold; Aude-Annick Suter; Corinna Stoltenburg; Julia Neugebauer; Tillmann Kallinich; Angela M. Kaindl; Susanne Holzhauer; Christoph Bührer; Philip Bufler; Uwe Kornak; Claus-Eric Ott; Markus Schülke; Hoa Huu Phuc Nguyen; Sabine Hoffjan; Corinna Grasemann; Tobias Rothoeft; Folke Brinkmann; Nora Matar; Sugirthan Sivalingam; Claudia Perne; Elisabeth Mangold; Martina Kreiss; Kirsten Cremer; Regina C. Betz; Martin Mücke; Lorenz Grigull; Thomas Klockgether; Isabel Spier; André Heimbach; Tim Bender; Fabian Brand; Christiane Stieber; Alexandra Marzena Morawiec; Pantelis Karakostas; Valentin S. Schäfer; Sarah Bernsen; Patrick Weydt; Sergio Castro-Gomez; Ahmad Aziz; Marcus Grobe-Einsler; Okka Kimmich; Xenia Kobeleva; Demet Önder; Hellen Lesmann; Sheetal Kumar; Pawel Tacik; Meghna Ahuja Bhasin; Pietro Incardona; Min Ae Lee-Kirsch; Reinhard Berner; Catharina Schuetz; Julia Körholz; Tanita Kretschmer; Nataliya Di Donato; Evelin Schröck; André Heinen; Ulrike Reuner; Amalia-Mihaela Hanßke; Frank J. Kaiser; Eva Manka; Martin Munteanu; Alma Kuechler; Kiewert Cordula; Raphael Hirtz; Elena Schlapakow; Christian Schlein; Jasmin Lisfeld; Christian Kubisch; Theresia Herget; Maja Hempel; Christina Weiler-Normann; Kurt Ullrich; Christoph Schramm; Cornelia Rudolph; Franziska Rillig; Maximilian Groffmann; Ania Muntau; Alexandra Tibelius; Eva M. C. Schwaibold; Christian P. Schaaf; Michal Zawada; Lilian Kaufmann; Katrin Hinderhofer; Pamela M. Okun; Urania Kotzaeridou; Georg F. Hoffmann; Daniela Choukair; Markus Bettendorf; Malte Spielmann; Annekatrin Ripke; Martje Pauly; Alexander Münchau; Katja Lohmann; Irina Hüning; Britta Hanker; Tobias Bäumer; Rebecca Herzog; Yorck Hellenbroich; Dominik S. Westphal; Tim Strom; Reka Kovacs; Korbinian M. Riedhammer; Katharina Mayerhanser; Elisabeth Graf; Melanie Brugger; Julia Hoefele; Konrad Oexle; Nazanin Mirza-Schreiber; Riccardo Berutti; Ulrich Schatz; Martin Krenn; Christine Makowski; Heike Weigand; Sebastian Schröder; Meino Rohlfs; Katharina Vill; Fabian Hauck; Ingo Borggraefe; Wolfgang Müller-Felber; Ingo Kurth; Miriam Elbracht; Cordula Knopp; Matthias Begemann; Florian Kraft; Johannes R. Lemke; Julia Hentschel; Konrad Platzer; Vincent Strehlow; Rami Abou Jamra; Martin Kehrer; German Demidov; Stefanie Beck-Wödl; Holm Graessner; Marc Sturm; Lena Zeltner; Ludger J. Schöls; Janine Magg; Andrea Bevot; Christiane Kehrer; Nadja Kaiser; Ernest Turro; Denise Horn; Annette Grüters-Kieslich; Christoph Klein; Stefan Mundlos; Markus Nöthen; Olaf Riess; Thomas Meitinger; Heiko Krude; Peter M. Krawitz; Tobias Haack; Nadja Ehmke; Matias Wagner

Functional analyses of splice site variants in TCF12 TCF12剪接位点变异的功能分析

HUMAN GENOMICS

IF4.3

2025-04-26

OAAI

Borst, Angela; Schweitzer, Tilmann; Hoern, Denise; Kunstmann, Erdmute; Koenig, Eva-Maria; Pluta, Natalie; Klopocki, Eva

Validation of 3 Computer-Aided Facial Phenotyping Tools (DeepGestalt, GestaltMatcher, and D-Score): Comparative Diagnostic Accuracy Study

JOURNAL OF MEDICAL INTERNET RESEARCH

IF6

2024-03-13

OAAI

Reiter, Alisa Maria Vittoria; Pantel, Jean Tori; Danyel, Magdalena; Horn, Denise; Ott, Claus-Eric; Mensah, Martin Atta

HOXD13-associated synpolydactyly: Extending and validating the genotypic and phenotypic spectrum with 38 new and 49 published families HOXD13-associated多指: 扩展和验证了38个新家族和49个已发表家族的基因型和表型谱

GENETICS IN MEDICINE

IF6.2

2023-11-01

PREAI

Gottschalk, Annika; Sczakiel, Henrike L.; Huelsemann, Wiebke; Schwartzmann, Sarina; Abad-Perez, Angela T.; Gruenhagen, Johannes; Ott, Claus-Eric; Spielmann, Malte; Horn, Denise; Mundlos, Stefan; Jamsheer, Aleksander; Mensah, Martin A.

Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta

GENETICS IN MEDICINE

IF6.2

2023-08-01

OAAI

Caron, Veronique; Chassaing, Nicolas; Ragge, Nicola; Boschann, Felix; Ngu, Angelina My-Hoa; Meloche, Elisabeth; Chor, Sarah; Lakhani, Saquib A.; Ji, Weizhen; Steiner, Laurie; Marcadier, Julien; Jansen, Philip R.; van de Pol, Laura A.; van Hagen, Johanna M.; Russi, Alvaro Serrano; Le Guyader, Gwenael; Nordenskjold, Magnus; Nordgren, Ann; Anderlid, Britt-Marie; Plaisancie, Julie; Stoltenburg, Corinna; Horn, Denise; Drenckhahn, Anne; Hamdan, Fadi F.; Lefebvre, Mathilde; Attie-Bitach, Tania; Forey, Peggy; Smirnov, Vasily; Ernould, Francoise; Jacquemont, Marie-Line; Grotto, Sarah; Alcantud, Alberto; Coret, Alicia; Ferrer-Avargues, Rosario; Srivastava, Siddharth; Vincent-Delorme, Catherine; Romoser, Shelby; Safina, Nicole; Saade, Dimah; Lupski, James R.; Calame, Daniel G.; Genevieve, David; Chatron, Nicolas; Schluth-Bolard, Caroline; Myers, Kenneth A.; Dobyns, William B.; Calvas, Patrick; Salmon, Caroline; Holt, Richard; Elmslie, Frances; Allaire, Marc; Prigozhin, Daniil M.; Tremblay, Andre; Michaud, Jacques L.

Broadening the phenotypic and molecular spectrum of FINCA syndrome: Biallelic NHLRC2 variants in 15 novel individuals

EUROPEAN JOURNAL OF HUMAN GENETICS

IF4.6

2023-05-15

OAAI

Sczakiel, Henrike L.; Zhao, Max; Wollert-Wulf, Brigitte; Danyel, Magdalena; Ehmke, Nadja; Stoltenburg, Corinna; Damseh, Nadirah; Al-Ashhab, Motee; Balci, Tugce B.; Osmond, Matthew; Andrade, Andrea; Schallner, Jens; Porrmann, Joseph; McDonald, Kimberly; Liao, Mingjuan; Oppermann, Henry; Platzer, Konrad; Dierksen, Nadine; Mojarrad, Majid; Eslahi, Atieh; Bakaeean, Behnaz; Calame, Daniel G.; Lupski, James R.; Firoozfar, Zahra; Seyedhassani, Seyed Mohammad; Mohammadi, Seyed Ahmad; Anwaar, Najwa; Rahman, Fatima; Seelow, Dominik; Janz, Martin; Horn, Denise; Maroofian, Reza; Boschann, Felix

Biallelic variants in ADAMTS15 cause a novel form of distal arthrogryposis (vol 24, pg 2187, 2022)

GENETICS IN MEDICINE

IF6.2

2023-05-01

OAAI

Boschann, Felix; Cogulu, Ozgur; Pehlivan, Davut; Balachandran, Saranya; Vallecillo-Garcia, Pedro; Grochowski, Christopher M.; Hansmeier, Nils R.; Akdemir, Zeynep H. Coban; Prada-Medina, Cesar A.; Aykut, Ayca; Fischer-Zirnsak, Bjoern; Badura, Simon; Durmaz, Burak; Ozkinay, Ferda; Haegerling, Rene; Posey, Jennifer E.; Stricker, Sigmar; Gillessen-Kaesbach, Gabriele; Spielmann, Malte; Horn, Denise; Brockmann, Knut; Lupski, James R.; Kornak, Uwe; Schmidt, Julia

Primidone improves symptoms in TRPM3-linked developmental and epileptic encephalopathy with spike-and-wave activation in sleep Primidone通过睡眠中的尖峰和波形激活改善TRPM3-linked发育性和癫痫性脑病的症状

EPILEPSIA

IF6.6

2023-03-28

OAAI

Becker, Lena-Luise; Horn, Denise; Boschann, Felix; Van Hoeymissen, Evelien; Voets, Thomas; Vriens, Joris; Prager, Christine; Kaindl, Angela M.

Gain- of- function variants in the ion channel gene TRPM3 underlie a spectrum of neurodevelopmental disorders

ELIFE

IF0

2023-01-17

OAAI

Burglen, Lydie; Van Hoeymissen, Evelien; Qebibo, Leila; Barth, Magalie; Belnap, Newell; Boschann, Felix; Depienne, Christel; De Clercq, Katrien; Douglas, Andrew G. L.; Fitzgerald, Mark P.; Foulds, Nicola; Garel, Catherine; Helbig, Ingo; Held, Katharina; Horn, Denise; Janssen, Annelies; Kaindl, Angela M.; Narayanan, Vinodh; Prager, Christina; Rupin-Mas, Mailys; Afenjar, Alexandra; Zhao, Siyuan; Ramaekers, Vincent Th; Ruggiero, Sarah M.; Thomas, Simon; Valence, Stephanie; Van Maldergem, Lionel; Rohacs, Tibor; Rodriguez, Diana; Dyment, David; Voets, Thomas; Vriens, Joris

Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomes Hi-c与短和长读基因组测序的整合揭示了种系重排基因组的结构

NATURE COMMUNICATIONS

IF15.7

2022-10-29

OAAI

Schoepflin, Robert; Melo, Uira Souto; Moeinzadeh, Hossein; Heller, David; Laupert, Verena; Hertzberg, Jakob; Holtgrewe, Manuel; Alavi, Nico; Klever, Marius-Konstantin; Jungnitsch, Julius; Comak, Emel; Tuerkmen, Seval; Horn, Denise; Duffourd, Yannis; Faivre, Laurence; Callier, Patrick; Sanlaville, Damien; Zuffardi, Orsetta; Tenconi, Romano; Kurtas, Nehir Edibe; Giglio, Sabrina; Prager, Bettina; Latos-Bielenska, Anna; Vogel, Ida; Bugge, Merete; Tommerup, Niels; Spielmann, Malte; Vitobello, Antonio; Kalscheuer, Vera M.; Vingron, Martin; Mundlos, Stefan

Biallelic variants in ADAMTS15 cause a novel form of distal arthrogryposis

GENETICS IN MEDICINE

IF6.2

2022-10-01

OAAI

Boschann, Felix; Cogulu, Muhsin O.; Pehlivan, Davut; Balachandran, Saranya; Vallecillo-Garcia, Pedro; Grochowski, Christopher M.; Hansmeier, Nils R.; Akdemir, Zeynep H. Coban; Prada-Medina, Cesar A.; Aykut, Ayca; Fischer-Zirnsak, Bjorn; Badura, Simon; Durmaz, Burak; Ozkinay, Ferda; Haegerling, Rene; Posey, Jennifer E.; Stricker, Sigmar; Gillessen-Kaesbach, Gabriele; Spielmann, Malte; Horn, Denise; Brockmann, Knut; Lupski, James R.; Kornak, Uwe; Schmidt, Julia

Evidence of neural crest cell origin of a DICER1 mutant CNS sarcoma in a child with DICER1 syndrome and NRAS-mutant neurocutaneous melanosis 患有DICER1综合征和NRAS突变型神经皮肤黑变病的儿童中DICER1突变型CNS肉瘤的神经嵴细胞起源的证据

NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

IF3.4

2022-07-05

OAAI

Schweizer, Leonille; Hartmann, Wolfgang; Koch, Arend; Nunninger, Maximilian; Thomale, Ulrich-Wilhelm; Pennacchietti, Valentina; Tietze, Anna; Horn, Denise; Pajtler, Kristian W.; Hirsch, Steffen; Wieland, Ilse; Deubzer, Hedwig; Rossi, Rainer; Driever, Pablo Hernaiz; von Hoff, Katja; von Zezschwitz, Barbara

Transmission ratio distortion of mutations in the master regulator of centriole biogenesis PLK4

HUMAN GENETICS

IF3.6

2022-05-10

OAAI

Neitzel, Heidemarie; Varon, Raymonda; Chughtai, Sana; Dartsch, Josephine; Dutrannoy-Toensing, Veronique; Nuernberg, Peter; Nuernberg, Gudrun; Schweiger, Michal; Digweed, Martin; Hildebrand, Gabriele; Hackmann, Karl; Holtgrewe, Manuel; Sarioglu, Nanette; Schulze, Bernt; Horn, Denise; Sperling, Karl

Combining callers improves the detection of copy number variants from whole-genome sequencing

EUROPEAN JOURNAL OF HUMAN GENETICS

IF4.6

2021-11-08

OAAI

Coutelier, Marie; Holtgrewe, Manuel; Jaeger, Marten; Floettman, Ricarda; Mensah, Martin A.; Spielmann, Malte; Krawitz, Peter; Horn, Denise; Beule, Dieter; Mundlos, Stefan

Bi-allelic loss-of-function variants in KIF21A cause severe fetal akinesia with arthrogryposis multiplex

JOURNAL OF MEDICAL GENETICS

IF3.7

2021-11-05

OAAI

Falb, Ruth J.; Mueller, Amelie J.; Klein, Wolfram; Grimmel, Mona; Grasshoff, Ute; Spranger, Stephanie; Stoebe, Petra; Gauck, Darja; Kuechler, Alma; Dikow, Nicola; Schwaibold, Eva M. C.; Schmidt, Christoph; Averdunk, Luisa; Buchert, Rebecca; Heinrich, Tilman; Prodan, Natalia; Park, Joohyun; Kehrer, Martin; Sturm, Marc; Kelemen, Olga; Hartmann, Silke; Horn, Denise; Emmerich, Dirk; Hirt, Nina; Neumann, Armin; Kristiansen, Glen; Gembruch, Ulrich; Haen, Susanne; Siebert, Reiner; Hentze, Sabine; Hoopmann, Markus; Ossowski, Stephan; Waldmueller, Stephan; Beck-Woedl, Stefanie; Glaeser, Dieter; Tekesin, Ismail; Distelmaier, Felix; Riess, Olaf; Kagan, Karl-Oliver; Dufke, Andreas; Haack, Tobias B.

Genome sequencing in families with congenital limb malformations

HUMAN GENETICS

IF3.6

2021-06-22

OAAI

Elsner, Jonas; Mensah, Martin A.; Holtgrewe, Manuel; Hertzberg, Jakob; Bigoni, Stefania; Busche, Andreas; Coutelier, Marie; de Silva, Deepthi C.; Elcioglu, Nursel; Filges, Isabel; Gerkes, Erica; Girisha, Katta M.; Graul-Neumann, Luitgard; Jamsheer, Aleksander; Krawitz, Peter; Kurth, Ingo; Markus, Susanne; Megarbane, Andre; Reis, Andre; Reuter, Miriam S.; Svoboda, Daniel; Teller, Christopher; Tuysuz, Beyhan; Turkmen, Seval; Wilson, Meredith; Woitschach, Rixa; Vater, Inga; Caliebe, Almuth; Hulsemann, Wiebke; Horn, Denise; Mundlos, Stefan; Spielmann, Malte

Biallelic truncating variants in ATP9A cause a novel neurodevelopmental disorder involving postnatal microcephaly and failure to thrive

JOURNAL OF MEDICAL GENETICS

IF3.7

2021-06-18

OAAI

Vogt, Guido; Verheyen, Sarah; Schwartzmann, Sarina; Ehmke, Nadja; Potratz, Cornelia; Schwerin-Nagel, Anette; Plecko, Barbara; Holtgrewe, Manuel; Seelow, Dominik; Blatterer, Jasmin; Speicher, Michael R.; Kornak, Uwe; Horn, Denise; Mundlos, Stefan; Fischer-Zirnsak, Bjorn; Boschann, Felix

GENETICS IN MEDICINE

IF6.2

2021-06-01

OAAI

Zarate, Yuri A.; Uehara, Tomoko; Abe, Kota; Oginuma, Masayuki; Harako, Sora; Ishitani, Shizuka; Lehesjoki, Anna-Elina; Bierhals, Tatjana; Kloth, Katja; Ehmke, Nadja; Horn, Denise; Holtgrewe, Manuel; Anderson, Katherine; Viskochil, David; Edgar-Zarate, Courtney L.; Sacoto, Maria J. Guillen; Schnur, Rhonda E.; Morrow, Michelle M.; Sanchez-Valle, Amarilis; Pappas, John; Rabin, Rachel; Muona, Mikko; Anttonen, Anna-Kaisa; Platzer, Konrad; Luppe, Johannes; Gburek-Augustat, Janina; Kaname, Tadashi; Okamoto, Nobuhiko; Mizuno, Seiji; Kaido, Yusaku; Ohkuma, Yoshiaki; Hirose, Yutaka; Ishitani, Tohru; Kosaki, Kenjiro

研究方向