Martin A. Mensah - Publications, H-index & Citations

Martin A. Mensah

charite-universitaetsmedizin berlin

16H指数

50论文数

1.1K被引数

收录论文 22

发表时间

Long-read sequencing reveals a hidden Alu-mediated splice defect in CPLANE1, causing orofaciodigital syndrome type VI 长读测序揭示CPLANE1中隐藏的Alu介导的剪接缺陷，导致VI型口面指综合征

European Journal of Human Genetics

IF4.6

2026-09-12

OAAI

Jelena Pozojevic; Henrike Lisa Sczakiel; Saranya Balachandran; Nathalie Kruse; Martin Atta Mensah; Wiebke Hülsemann; Kristian Händler; Malte Spielmann

A missing enzyme-rescue metabolite as cause of a rare skeletal dysplasia 一种缺失的酶-拯救代谢物作为罕见骨骼发育不良的病因

Nature

IF48.5

2025-08-20

OAAI

Jean Jacobs; Hristiana Lyubenova; Sven Potelle; Johannes Kopp; Isabelle Gerin; Wing Lee Chan; Miguel Rodriguez de los Santos; Wiebke Hülsemann; Martin A. Mensah; Valérie Cormier-Daire; Marieke Joosten; Hennie T. Bruggenwirth; Kyra E. Stuurman; Valancy Miranda; Philippe M. Campeau; Lars Wittler; Julie Graff; Stefan Mundlos; Daniel M. Ibrahim; Emile Van Schaftingen; Björn Fischer-Zirnsak; Uwe Kornak; Nadja Ehmke; Guido T. Bommer

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

Haplotype Phasing of Biallelic WNT10B Variants Using Long-Read Sequencing in Split-Hand/Foot Malformation Syndrome 利用长读长测序对分裂手/足畸形综合征中的双等位基因WNT10B变异进行单体型相分型

CLINICAL GENETICS

IF2.3

2025-01-18

OAAI

Pozojevic, Jelena; Kakar, Naseebullah; Sczakiel, Henrike L.; Kruse, Nathalie; Haendler, Kristian; Balachandran, Saranya; Sreenivasan, Varun; Mensah, Martin A.; Spielmann, Malte

REEV: review, evaluate and explain variants REEV: 审查、评估和解释变体

NUCLEIC ACIDS RESEARCH

IF13.1

2024-05-20

OAAI

Hramyka, Dzmitry; Sczakiel, Henrike Lisa; Zhao, Max Xiaohang; Stolpe, Oliver; Nieminen, Mikko; Adam, Ronja; Danyel, Magdalena; Einicke, Lara; Haegerling, Rene; Knaus, Alexej; Mundlos, Stefan; Schwartzmann, Sarina; Seelow, Dominik; Ehmke, Nadja; Mensah, Martin Atta; Boschann, Felix; Beule, Dieter; Holtgrewe, Manuel

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

STIGMA: Single-cell tissue-specific gene prioritization using machine learning (vol 111, pg 338, 2024)柱头: 使用机器学习的单细胞组织特异性基因优先化 (111卷，338页，2024)

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2024-03-01

OAAI

Balachandran, Saranya; Prada-Medina, Cesar A.; Mensah, Martin A.; Glaser, Juliane; Kakar, Naseebullah; Nagel, Inga; Pozojevic, Jelena; Audain, Enrique; Kircher, Martin; Sreenivasan, Varun K. A.; Spielmann, Malte

STIGMA: Single-cell tissue-specific gene prioritization using machine learning

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2024-02-01

OAAI

Balachandran, Saranya; Prada-Medina, Cesar A.; Mensah, Martin A.; Glaser, Juliane; Kakar, Naseebullah; Nagel, Inga; Pozojevic, Jelena; Audain, Enrique; Hitz, Marc-Phillip; Kircher, Martin; Sreenivasan, Varun K. A.; Spielmann, Malte

An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCP

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2023-11-01

OAAI

Mah-Som, Annelise Y.; Daw, Jil; Huynh, Diana; Wu, Mengcheng; Creekmore, Benjamin C.; Burns, William; Skinner, Steven A.; Holla, Oystein L.; Smeland, Marie F.; Planes, Marc; Uguen, Kevin; Redon, Sylvia; Bierhals, Tatjana; Scholz, Tasja; Denecke, Jonas; Mensah, Martin A.; Sczakiel, Henrike L.; Tichy, Heidelis; Verheyen, Sarah; Blatterer, Jasmin; Schreiner, Elisabeth; Thies, Jenny; Lam, Christina; Spaeth, Christine G.; Pena, Loren; Ramsey, Keri; Narayanan, Vinodh; Seaver, Laurie H.; Rodriguez, Diana; Afenjar, Alexandra; Burglen, Lydie; Lee, Edward B.; Chou, Tsui-Fen; Weihl, Conrad C.; Shinawi, Marwan S.

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.

Adult-Onset Neurodegeneration in Nucleotide Excision Repair Disorders (NERDND): Time to Move Beyond the Skin 核苷酸切除修复疾病 (NERDND) 中的成人发作神经变性: 时间超越皮肤

MOVEMENT DISORDERS

IF7.6

2022-06-14

OAAI

Cordts, Isabell; Oender, Demet; Traschuetz, Andreas; Kobeleva, Xenia; Karin, Ivan; Minnerop, Martina; Koertvelyessy, Peter; Biskup, Saskia; Forchhammer, Stephan; Binder, Johannes; Tzschach, Andreas; Meiss, Frank; Schmidt, Axel; Kreiss, Martina; Cremer, Kirsten; Mensah, Martin A.; Park, Joohyun; Rautenberg, Maren; Deininger, Natalie; Sturm, Marc; Lingor, Paul; Klopstock, Thomas; Weiler, Markus; Marxreiter, Franz; Synofzik, Matthis; Posch, Christian; Sirokay, Judith; Klockgether, Thomas; Haack, Tobias B.; Deschauer, Marcus

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

The Genetic Basis of Moyamoya Disease

TRANSLATIONAL STROKE RESEARCH

IF4.3

2021-09-16

OAAI

Mertens, R.; Graupera, M.; Gerhardt, H.; Bersano, A.; Tournier-Lasserve, E.; Mensah, M. A.; Mundlos, S.; Vajkoczy, P.

Complete lung agenesis caused by complex genomic rearrangements with neo-TAD formation at the SHH locus

HUMAN GENETICS

IF3.6

2021-08-26

OAAI

Melo, Uira Souto; Piard, Juliette; Fischer-Zirnsak, Bjorn; Klever, Marius-Konstantin; Schopflin, Robert; Mensah, Martin Atta; Holtgrewe, Manuel; Arbez-Gindre, Francine; Martin, Alain; Guigue, Virginie; Gaillard, Dominique; Landais, Emilie; Roze, Virginie; Kremer, Valerie; Ramanah, Rajeev; Cabrol, Christelle; Harms, Frederike L.; Kornak, Uwe; Spielmann, Malte; Mundlos, Stefan; Van Maldergem, Lionel

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

Efficiency of Computer-Aided Facial Phenotyping (DeepGestalt) in Individuals With and Without a Genetic Syndrome: Diagnostic Accuracy Study

JOURNAL OF MEDICAL INTERNET RESEARCH

IF6

2020-10-22

OAAI

Pantel, Jean Tori; Hajjir, Nurulhuda; Danyel, Magdalena; Elsner, Jonas; Abad-Perez, Angela Teresa; Hansen, Peter; Mundlos, Stefan; Spielmann, Malte; Horn, Denise; Ott, Claus-Eric; Mensah, Martin Atta

Hi-C Identifies Complex Genomic Rearrangements and TAD-Shuffling in Developmental Diseases

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2020-06-01

OAAI

Melo, Uira Souto; Schoepflin, Robert; Acuna-Hidalgo, Rocio; Mensah, Martin Atta; Fischer-Zirnsak, Bjoern; Holtgrewe, Manuel; Klever, Marius-Konstantin; Tuerkmen, Seval; Heinrich, Verena; Pluym, Ilina Datkhaeva; Matoso, Eunice; de Sousa, Sergio Bernardo; Louro, Pedro; Huelsemann, Wiebke; Cohen, Monika; Dufke, Andreas; Latos-Bielenska, Anna; Vingron, Martin; Kalscheuer, Vera; Quintero-Rivera, Fabiola; Spielmann, Malte; Mundlos, Stefan

PEDIA: prioritization of exome data by image analysis PEDIA: 通过图像分析对外显子组数据进行优先排序

GENETICS IN MEDICINE

IF6.2

2019-12-01

OAAI

Hsieh, Tzung-Chien; Mensah, Martin A.; Pantel, Jean T.; Aguilar, Dione; Bar, Omri; Bayat, Allan; Becerra-Solano, Luis; Bentzen, Heidi B.; Biskup, Saskia; Borisov, Oleg; Braaten, Oivind; Ciaccio, Claudia; Coutelier, Marie; Cremer, Kirsten; Danyel, Magdalena; Daschkey, Svenja; Eden, Hilda David; Devriendt, Koenraad; Wilson, Sandra; Douzgou, Sofia; Dukic, Dejan; Ehmke, Nadja; Fauth, Christine; Fischer-Zirnsak, Bjoern; Fleischer, Nicole; Gabriel, Heinz; Graul-Neumann, Luitgard; Gripp, Karen W.; Gurovich, Yaron; Gusina, Asya; Haddad, Nechama; Hajjir, Nurulhuda; Hanani, Yair; Hertzberg, Jakob; Hoertnagel, Konstanze; Howell, Janelle; Ivanovski, Ivan; Kaindl, Angela; Kamphans, Tom; Kamphausen, Susanne; Karimov, Catherine; Kathom, Hadil; Keryan, Anna; Knaus, Alexej; Koehler, Sebastian; Kornak, Uwe; Lavrov, Alexander; Leitheiser, Maximilian; Lyon, Gholson J.; Mangold, Elisabeth; Marin Reina, Purificacion; Martinez Carrascal, Antonio; Mitter, Diana; Morlan Herrador, Laura; Nadav, Guy; Noethen, Markus; Orrico, Alfredo; Ott, Claus-Eric; Park, Kristen; Peterlin, Borut; Poeisler, Laura; Raas-Rothschild, Annick; Randolph, Linda; Revencu, Nicole; Fagerberg, Christina Ringmann; Robinson, Peter Nick; Rosnev, Stanislav; Rudnik, Sabine; Rudolf, Gorazd; Schatz, Ulrich; Schossig, Anna; Schubach, Max; Shanoon, Or; Sheridan, Eamonn; Smirin-Yosef, Pola; Spielmann, Malte; Suk, Eun-Kyung; Sznajer, Yves; Thiel, Christian T.; Thiel, Gundula; Verloes, Alain; Vrecar, Irena; Wahl, Dagmar; Weber, Ingrid; Winter, Korina; Wisniewska, Marzena; Wollnik, Bernd; Yeung, Ming W.; Zhao, Max; Zhu, Na; Zschocke, Johannes; Mundlos, Stefan; Horn, Denise; Krawitz, Peter M.

Differentiation of MISSLA and Fanconi anaemia by computer-aided image analysis and presentation of two novel MISSLA siblings

EUROPEAN JOURNAL OF HUMAN GENETICS

IF4.6

2019-07-18

OAAI

Danyel, Magdalena; Cheng, Zhuo; Jung, Christine; Boschann, Felix; Pantel, Jean Tori; Hajjir, Nurulhuda; Floettmann, Ricarda; Schulz, Solveig; Demuth, Ilja; Sheridan, Eamonn; Mundlos, Stefan; Horn, Denise; Mensah, Martin A.

Pathogenic Variants in GPC4 Cause Keipert Syndrome

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2019-05-01

OAAI

Amor, David J.; Stephenson, Sarah E. M.; Mustapha, Mirna; Mensah, Martin A.; Ockeloen, Charlotte W.; Lee, Wei Shern; Tankard, Rick M.; Phelan, Dean G.; Shinawi, Marwan; de Brouwer, Arjan P. M.; Pfundt, Rolph; Dowling, Cari; Toler, Tomi L.; Sutton, V. Reid; Agolini, Emanuele; Rinelli, Martina; Capolino, Rossella; Martinelli, Diego; Zampino, Giuseppe; Dumic, Miroslav; Reardon, William; Shaw-Smith, Charles; Leventer, Richard J.; Delatycki, Martin B.; Kleefstra, Tjitske; Mundlos, Stefan; Mortier, Geert; Bahlo, Melanie; Allen, Nicola J.; Lockhart, Paul J.

研究方向