Sabine Hoffjan - Publications, H-index & Citations

Sabine Hoffjan

department of human genetics

38H指数

183论文数

5.0K被引数

收录论文 44

发表时间

Optical genome mapping improves structural variant detection and characterization in syndromic and neurogenetic disorders 光学基因组作图提高了综合征性遗传病和神经遗传病中结构变异的检测与表征

Human Genetics

IF3.6

2026-09-10

OAAI

Rosa Catalina Lederbogen; Sabine Hoffjan; Cornelia Köhler; Charlotte Thiels; Ulrike Angelika Mau-Holzmann; Sylke Singer; Sabrina Schreiber; Anne Purczeld; Rebecca Buchert; Maria Viktorovna Yusenko; Hoa Huu Phuc Nguyen; Wanda Maria Gerding

Tyrosine supplementation with high-protein diet as a therapeutic strategy for YARS1 deficiency 酪氨酸补充与高蛋白饮食作为YARS1缺乏症的治疗策略

Genetics in Medicine

IF6.2

2026-01-07

OAAI

Luisa Averdunk; Karin Konzett; Hanna Mandel; Tobias Linden; Julien Neveu; Pierre Rohrlich; Melanie Herrmann; Thomas Lücke; Sabine Hoffjan; Pedro Arsenio Nunez Duran; Nadra Nasser Samra; Sabine Rudnik; Desiree E.C. Smith; Ertan Mayatepek; Gajja S. Salomons; Felix Distelmaier; Marisa I. Mendes

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

The Endocrine Chameleon: Expanding the Phenotype of Pseudohypoparathyroidism 1A in Infancy 内分泌变色龙：扩展婴儿期假性甲状旁腺功能减退症1A的临床表型

HORMONE RESEARCH IN PAEDIATRICS

IF2.7

2025-01-10

PREAI

Munteanu, Martin; Resch, Elisabeth; Bildheim, Victor; Hoffjan, Sabine; Erdlenbruch, Bernhard; Linglart, Agnes

A 21-year-old woman with progressive asymptomatic skin laxity in flexural regions

CLINICAL AND EXPERIMENTAL DERMATOLOGY

IF2.8

2023-05-12

PREAI

Gambichler, Thilo; Hoffjan, Sabine; Nagel, Mato; Terschluesen, Meike; Mansour, Rita; Wuerfel, Lina; Hoffmann, Klaus; Susok, Laura; Dickel, Heinrich; Doerler, Martin

Clustered variants in the 5′ coding region of TRA2B cause a distinctive neurodevelopmental syndrome

GENETICS IN MEDICINE

IF6.2

2023-04-01

OAAI

Ramond, Francis; Dalgliesh, Caroline; Grimmel, Mona; Wechsberg, Oded; Vetro, Annalisa; Guerrini, Renzo; FitzPatrick, David; Poole, Rebecca L.; Lebrun, Marine; Bayat, Allan; Grasshoff, Ute; Bertrand, Miriam; Witt, Dennis; Turnpenny, Peter D.; Faundes, Victor; Santa Maria, Lorena; Fuentes, Carolina Mendoza; Mabe, Paulina; Hussain, Shaun A.; Mullegama, Sureni V.; Torti, Erin; Oehl-Jaschkowitz, Barbara; Salmon, Lina Basel; Orenstein, Naama; Shahar, Noa Ruhrman; Hagari, Ofir; Bazak, Lily; Hoffjan, Sabine; Prada, Carlos E.; Haack, Tobias; Elliott, David J.

De novo missense variants in FBXO11 alter its protein expression and subcellular localization

HUMAN MOLECULAR GENETICS

IF3.2

2021-09-09

OAAI

Gregor, Anne; Meerbrei, Tanja; Gerstner, Thorsten; Toutain, Annick; Lynch, Sally Ann; Stals, Karen; Maxton, Caroline; Lemke, Johannes R.; Bernat, John A.; Bombei, Hannah M.; Foulds, Nicola; Hunt, David; Kuechler, Alma; Beygo, Jasmin; Stobe, Petra; Bouman, Arjan; Palomares-Bralo, Maria; Santos-Simarro, Fernando; Garcia-Minaur, Sixto; Pacio-Miguez, Marta; Popp, Bernt; Vasileiou, Georgia; Hebebrand, Moritz; Reis, Andre; Schuhmann, Sarah; Krumbiegel, Mandy; Brown, Natasha J.; Sparber, Peter; Melikyan, Lyusya; Bessonova, Liudmila; Cherevatova, Tatiana; Sharkov, Artem; Shcherbakova, Natalia; Dabir, Tabib; Kini, Usha; Schwaibold, Eva M. C.; Haack, Tobias B.; Bertoli, Marta; Hoffjan, Sabine; Falb, Ruth; Shinawi, Marwan; Sticht, Heinrich; Zweier, Christiane

The Rare IL22RA2 Signal Peptide Coding Variant rs28385692 Decreases Secretion of IL-22BP Isoform-1,-2 and-3 and Is Associated with Risk for Multiple Sclerosis

CELLS

IF5.2

2020-01-10

OAAI

Gomez-Fernandez, Paloma; de Lapuente Portilla, Aitzkoa Lopez; Astobiza, Ianire; Mena, Jorge; Urtasun, Andoni; Altmann, Vivian; Matesanz, Fuencisla; Otaegui, David; Urcelay, Elena; Antiguedad, Alfredo; Malhotra, Sunny; Montalban, Xavier; Castillo-Trivino, Tamara; Espino-Paisan, Laura; Aktas, Orhan; Buttmann, Mathias; Chan, Andrew; Fontaine, Bertrand; Gourraud, Pierre-Antoine; Hecker, Michael; Hoffjan, Sabine; Kubisch, Christian; Kuempfel, Tania; Luessi, Felix; Zettl, Uwe K.; Zipp, Frauke; Alloza, Iraide; Comabella, Manuel; Lill, Christina M.; Vandenbroeck, Koen

TPP2 mutation associated with sterile brain inflammation mimicking MS

NEUROLOGY-GENETICS

IF3.7

2018-12-01

OAAI

Reinthaler, Eva M.; Graf, Elisabeth; Zrzavy, Tobias; Wieland, Thomas; Hotzy, Christoph; Kopecky, Chantal; Pferschy, Sandra; Schmied, Christiane; Leutmezer, Fritz; Keilani, Mohammad; Lill, Christina M.; Hoffjan, Sabine; Epplen, Joerg T.; Zettl, Uwe K.; Hecker, Michael; Deutschlaender, Angela; Meuth, Sven G.; Ahram, Mamoun; Mustafa, Baha; El-Khateeb, Mohammed; Vilarino-Guell, Cartes; Sadovnick, Dessa; Zimprich, Fritz; Tomkinson, Birgitta; Strom, Tim; Kristoferitsch, Wolfgang; Lassmann, Hans; Zimprich, Alexander

Expanding the phenotype of BICD2 mutations toward skeletal muscle involvement

NEUROLOGY

IF8.5

2016-11-22

PREAI

Unger, Andreas; Dekomien, Gabriele; Guettsches, Anne; Dreps, Thomas; Kley, Rudolf; Tegenthoff, Martin; Ferbert, Andreas; Weis, Joachim; Heyer, Christoph; Linke, Wolfgang A.; Martinez-Carrera, Lilian; Storbeck, Markus; Wirth, Brunhilde; Hoffjan, Sabine; Vorgerd, Matthias

Vascular type Ehlers-Danlos syndrome is associated with platelet dysfunction and low vitamin D serum concentration

ORPHANET JOURNAL OF RARE DISEASES

IF3.5

2016-08-03

OAAI

Busch, Albert; Hoffjan, Sabine; Bergmann, Frauke; Hartung, Birgit; Jung, Helena; Hanel, Daniela; Tzschach, Andeas; Kadar, Janos; von Kodolitsch, Yskert; Germer, Christoph-Thomas; Trobisch, Heiner; Strasser, Erwin; Wildenauer, Rene

A detailed clinical analysis of 13 patients with AUTS2 syndrome further delineates the phenotypic spectrum and underscores the behavioural phenotype

JOURNAL OF MEDICAL GENETICS

IF3.7

2016-04-13

PREAI

Beunders, Gea; van de Kamp, Jiddeke; Vasudevan, Pradeep; Morton, Jenny; Smets, Katrien; Kleefstra, Tjitske; de Munnik, Sonja A.; Schuurs-Hoeijmakers, Janneke; Ceulemans, Berten; Zollino, Marcella; Hoffjan, Sabine; Wieczorek, Stefan; So, Joyce; Mercer, Leanne; Walker, Tanya; Velsher, Lea; Parker, Michael J.; Magee, Alex C.; Elffers, Bart; Kooy, R. Frank; Yntema, Helger G.; Meijers-Heijboer, Elizabeth J.; Sistermans, Erik A.

Exome Sequencing Reveals AGBL5 as Novel Candidate Gene and Additional Variants for Retinitis Pigmentosa in Five Turkish Families

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE

IF4.7

2015-12-22

PREAI

Kastner, Simone; Thiemann, Ina-Janine; Dekomien, Gabriele; Petrasch-Parwez, Elisabeth; Schreiber, Sabrina; Akkad, Denis A.; Gerding, Wanda M.; Hoffjan, Sabine; Gunes, Sezgin; Gunes, Selcuk; Bagci, Hasan; Epplen, Joerg T.

Investigation of sex-specific effects of apolipoprotein E on severity of EAE and MS

JOURNAL OF NEUROINFLAMMATION

IF10.1

2015-12-16

OAAI

Schrewe, L.; Lill, C. M.; Liu, T.; Salmen, A.; Gerdes, L. A.; Guillot-Noel, L.; Akkad, D. A.; Blaschke, P.; Graetz, C.; Hoffjan, S.; Kroner, A.; Demir, S.; Boehme, A.; Rieckmann, P.; ElAli, A.; Hagemann, N.; Hermann, D. M.; Cournu-Rebeix, I.; Zipp, F.; Kuempfel, T.; Buttmann, M.; Zettl, U. K.; Fontaine, B.; Bertram, L.; Gold, R.; Chan, A.

Clinical utility gene card for: Hereditary thoracic aortic aneurysm and dissection including next-generation sequencing-based approaches

EUROPEAN JOURNAL OF HUMAN GENETICS

IF4.6

2015-10-28

OAAI

Arslan-Kirchner, Mine; Arbustini, Eloisa; Boileau, Catherine; Charron, Philippe; Child, Anne H.; Collod-Beroud, Gwenaelle; De Backer, Julie; De Paepe, Anne; Dierking, Anna; Faivre, Laurence; Hoffjan, Sabine; Jondeau, Guillaume; Keyser, Britta; Loeys, Bart; Mayer, Karin; Robinson, Peter N.; Schmidtke, Joerg

Genome-wide significant association with seven novel multiple sclerosis risk loci

JOURNAL OF MEDICAL GENETICS

IF3.7

2015-10-16

OAAI

Lill, Christina M.; Luessi, Felix; Alcina, Antonio; Sokolova, Ekaterina A.; Ugidos, Nerea; de la Hera, Belen; Guillot-Noel, Lena; Malhotra, Sunny; Reinthaler, Eva; Schjeide, Brit-Maren M.; Mescheriakova, Julia Y.; Mashychev, Andriy; Wohlers, Inken; Akkad, Denis A.; Aktas, Orhan; Alloza, Iraide; Antigueedad, Alfredo; Arroyo, Rafa; Astobiza, Ianire; Blaschke, Paul; Boyko, Alexei N.; Buttmann, Mathias; Chan, Andrew; Doerner, Thomas; Epplen, Joerg T.; Favorova, Olga O.; Fedetz, Maria; Fernandez, Oscar; Garcia-Martinez, Angel; Gerdes, Lisa-Ann; Graetz, Christiane; Hartung, Hans-Peter; Hoffjan, Sabine; Izquierdo, Guillermo; Korobko, Denis S.; Kroner, Antje; Kubisch, Christian; Kuempfel, Tania; Leyva, Laura; Lohse, Peter; Malkova, Nadezhda A.; Montalban, Xavier; Popova, Ekaterina V.; Rieckmann, Peter; Rozhdestvenskii, Alexei S.; Schmied, Christiane; Smagina, Inna V.; Tsareva, Ekaterina Y.; Winkelmann, Alexander; Zettl, Uwe K.; Binder, Harald; Cournu-Rebeix, Isabelle; Hintzen, Rogier; Zimprich, Alexander; Comabella, Manuel; Fontaine, Bertrand; Urcelay, Elena; Vandenbroeck, Koen; Filipenko, Maxim; Matesanz, Fuencisla; Zipp, Frauke; Bertram, Lars

47 patients with FLNA associated periventricular nodular heterotopia

ORPHANET JOURNAL OF RARE DISEASES

IF3.5

2015-10-15

OAAI

Lange, Max; Kasper, Burkhard; Bohring, Axel; Rutsch, Frank; Kluger, Gerhard; Hoffjan, Sabine; Spranger, Stephanie; Behnecke, Anne; Ferbert, Andreas; Hahn, Andreas; Oehl-Jaschkowitz, Barbara; Graul-Neumann, Luitgard; Diepold, Katharina; Schreyer, Isolde; Bernhard, Matthias K.; Mueller, Franziska; Siebers-Renelt, Ulrike; Beleza-Meireles, Ana; Uyanik, Goekhan; Janssens, Sandra; Boltshauser, Eugen; Winkler, Juergen; Schuierer, Gerhard; Hehr, Ute

A rare P2X7 variant Arg307Gln with absent pore formation function protects against neuroinflammation in multiple sclerosis

HUMAN MOLECULAR GENETICS

IF3.2

2015-07-17

OAAI

Gu, Ben J.; Field, Judith; Dutertre, Sebastien; Ou, Amber; Kilpatrick, Trevor J.; Lechner-Scott, Jeannette; Scott, Rodney; Lea, Rodney; Taylor, Bruce V.; Stankovich, Jim; Butzkueven, Helmut; Gresle, Melissa; Laws, Simon M.; Petrou, Steven; Hoffjan, Sabine; Akkad, Denis A.; Graham, Colin A.; Hawkins, Stanley; Glaser, Anna; Bedri, Sahl Khalid; Hillert, Jan; Matute, Carlos; Antiguedad, Alfredo; Wiley, James S.

Pathogenicity of POFUT1 in Dowling-Degos Disease: Additional Mutations and Clinical Overlap with Reticulate Acropigmentation of Kitamura

JOURNAL OF INVESTIGATIVE DERMATOLOGY

IF5.7

2015-02-01

OAAI

Basmanav, F. Buket; Fritz, Guenter; Lestringant, Gilles G.; Pachat, Divya; Hoffjan, Sabine; Fischer, Johannes; Wehner, Maria; Wolf, Sabrina; Thiele, Holger; Altmueller, Janine; Pulimood, Susanne A.; Ruetten, Arno; Kruse, Roland; Hanneken, Sandra; Frank, Jorge; Danda, Sumita; Bygum, Anette; Betz, Regina C.

Analysis of the C19orf12 and WDR45 genes in patients with neurodegeneration with brain iron accumulation

JOURNAL OF THE NEUROLOGICAL SCIENCES

IF3.2

2015-02-01

PREAI

Tschentscher, Anne; Dekomien, Gabriele; Ross, Sophia; Cremer, Kirsten; Kukuk, Guido M.; Epplen, Joerg T.; Hoftjan, Sabine

研究方向