Felix Boschann

ORCID

Publication Activity (10 Years)

Years Active: 2019-2024
Publications (10 Years): 19

Top Venues

American journal of medical genetics. Part A

Human genomics

Journal of medical genetics

Nature

This page only lists publications with an associated author ORCID identifier.

Publications

Asuman Koparir, Caroline Lekszas, Kemal Keseroğlu, Thalia Rose, Lena Rappl, Aboulfazl Rad, Reza Maroofian, Nakul Narendran, Atefeh Hasanzadeh, Ehsan Ghayoor Karimiani, Felix Boschann, Uwe Kornak, Eva Klopocki, Ertuğrul M Özbudak, Barbara Vona, Thomas Haaf, Daniel Liedtke
Zebrafish as a model to investigate a biallelic gain-of-function variant in MSGN1, associated with a novel skeletal dysplasia syndrome. Human genomics 18 (1) (2024)
Sarina Schwartzmann, Max Zhao, Henrike Lisa Sczakiel, Gabriele Hildebrand, Nadja Ehmke, Denise Horn, Martin A Mensah, Felix Boschann
RNA analysis and computer-aided facial phenotyping help to classify a novel TRIO splice site variant. American journal of medical genetics. Part A (2024)
Sarina Schwartzmann, Max Zhao, Henrike Lisa Sczakiel, Gabriele Hildebrand, Nadja Ehmke, Denise Horn, Martin A Mensah, Felix Boschann
RNA analysis and computer-aided facial phenotyping help to classify a novel TRIO splice site variant. American journal of medical genetics. Part A 194 (7) (2024)
Asuman Koparir, Caroline Lekszas, Kemal Keseroğlu, Thalia Rose, Lena Rappl, Aboulfazl Rad, Reza Maroofian, Nakul Narendran, Atefeh Hasanzadeh, Ehsan Ghayoor Karimiani, Felix Boschann, Uwe Kornak, Eva Klopocki, Ertuğrul M Özbudak, Barbara Vona, Thomas Haaf, Daniel Liedtke
Zebrafish as a model to investigate a biallelic gain-of-function variant in MSGN1, associated with a novel skeletal dysplasia syndrome. Human genomics 18 (1) (2024)
Asuman Koparir, Caroline Lekszas, Kemal Keseroğlu, Thalia Rose, Lena Rappl, Aboulfazl Rad, Reza Maroofian, Nakul Narendran, Atefeh Hasanzadeh, Ehsan Ghayoor Karimiani, Felix Boschann, Uwe Kornak, Eva Klopocki, Ertuğrul M Özbudak, Barbara Vona, Thomas Haaf, Daniel Liedtke
Zebrafish as a model to investigate a biallelic gain-of-function variant in MSGN1, associated with a novel skeletal dysplasia syndrome. Human genomics 18 (1) (2024)
Sarina Schwartzmann, Max Zhao, Henrike Lisa Sczakiel, Gabriele Hildebrand, Nadja Ehmke, Denise Horn, Martin A Mensah, Felix Boschann
RNA analysis and computer-aided facial phenotyping help to classify a novel TRIO splice site variant. American journal of medical genetics. Part A 194 (7) (2024)
Henrike L Sczakiel, Max Zhao, Brigitte Wollert-Wulf, Magdalena Danyel, Nadja Ehmke, Corinna Stoltenburg, Nadirah Damseh, Motee Al-Ashhab, Tuğçe B Balcı, Matthew Osmond, Andrea Andrade, Jens Schallner, Joseph Porrmann, Kimberly McDonald, Mingjuan Liao, Henry Oppermann, Konrad Platzer, Nadine Dierksen, Majid Mojarrad, Atieh Eslahi, Behnaz Bakaeean, Daniel G Calame, James R. Lupski, Zahra Firoozfar, Seyed Mohammad Seyedhassani, Seyed Ahmad Mohammadi, Najwa Anwaar, Fatima Rahman, Dominik Seelow, Martin Janz, Denise Horn, Reza Maroofian, Felix Boschann
Broadening the phenotypic and molecular spectrum of FINCA syndrome: Biallelic NHLRC2 variants in 15 novel individuals. European journal of human genetics : EJHG (2023)
Felix Boschann, Sabine Kosmehl, Marc Bloching, Johannes Grünhagen, Gabriele Hildebrand, Denise Horn, Stefan Lyutenski
Novel noncanonical splice site variant causes mild CHD7-related disorder with variable intrafamilial expressivity. American journal of medical genetics. Part A 191 (4) (2023)
Felix Boschann, Sabine Kosmehl, Marc Bloching, Johannes Grünhagen, Gabriele Hildebrand, Denise Horn, Stefan Lyutenski
Novel noncanonical splice site variant causes mild CHD7-related disorder with variable intrafamilial expressivity. American journal of medical genetics. Part A (2023)
Felix Boschann, Sabine Kosmehl, Marc Bloching, Johannes Grünhagen, Gabriele Hildebrand, Denise Horn, Stefan Lyutenski
Novel noncanonical splice site variant causes mild CHD7-related disorder with variable intrafamilial expressivity. American journal of medical genetics. Part A 191 (4) (2023)
Felix Boschann, Sabine Kosmehl, Marc Bloching, Johannes Grünhagen, Gabriele Hildebrand, Denise Horn, Stefan Lyutenski
Novel noncanonical splice site variant causes mild CHD7-related disorder with variable intrafamilial expressivity. American journal of medical genetics. Part A 191 (4) (2023)
Robin Steinhaus, Felix Boschann, Melanie Vogel, Björn Fischer-Zirnsak, Dominik Seelow
AutozygosityMapper: Identification of disease-mutations in consanguineous families. Nucleic acids research (2022)
Felix Boschann, Daniel Acero Moreno, Martin A Mensah, Henrike L Sczakiel, Karolina Skipalova, Manuel Holtgrewe, Stefan Mundlos, Björn Fischer-Zirnsak
Xq27.1 palindrome mediated interchromosomal insertion likely causes familial congenital bilateral laryngeal abductor paralysis (Plott syndrome). Journal of human genetics 67 (7) (2022)
Kevin E Glinton, Anna C E Hurst, Kevin M Bowling, Ingrid Cristian, Devon Haynes, Dusit Adstamongkonkul, Oskar Schnappauf, David B Beck, Carole Brewer, Aditi Shah Parikh, Deepali N Shinde, Alan Donaldson, Ariel Brautbar, Saskia Koene, Arie van Haeringen, Amélie Piton, Yline Capri, Margherita Furlan, Elena Gardella, Rikke Steensbjerre Møller, Irma van de Beek, Linda Zuurbier, Phillis Lakeman, Allan Bayat, Julian A Martinez, Rebecca Signer, Pernille M Torring, Morten Buch Engelund, Karen W Gripp, Louise Amlie-Wolf, Lindsay B Henderson, Alina T Midro, Eugeniusz Tarasów, Beata Stasiewicz-Jarocka, Diana Moskal-Jasinska, Paul Vos, Felix Boschann, Corinna Stoltenburg, Oliver Puk, Inger-Lise Mero, Kristine Lossius, Cyril Mignot, Boris Keren, Johanna C Acosta Guio, Ignacio Briceño, Alberto Gomez, Yaping Yang, Przemyslaw Szafranski
Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies. American journal of medical genetics. Part A 185 (5) (2021)
Guido Vogt, Sarah Verheyen, Sarina Schwartzmann, Nadja Ehmke, Cornelia Potratz, Anette Schwerin-Nagel, Barbara Plecko, Manuel Holtgrewe, Dominik Seelow, Jasmin Blatterer, Michael R Speicher, Uwe Kornak, Denise Horn, Stefan Mundlos, Björn Fischer-Zirnsak, Felix Boschann
Biallelic truncating variants in ATP9A cause a novel neurodevelopmental disorder involving postnatal microcephaly and failure to thrive. Journal of medical genetics (2021)
Miriam Nøstvik, Sarah M Kateta, Bitten Schönewolf-Greulich, Alexandra Afenjar, Magalie Barth, Felix Boschann, Diane Doummar, Tobias B Haack, Boris Keren, Ludmila A Livshits, Davide Mei, Joohyun Park, Tiziana Pisano, Clement Prouteau, Muhammad Umair, Ahmed Waqas, Alban Ziegler, Renzo Guerrini, Rikke S Møller, Zeynep Tümer
Clinical and molecular delineation of PUS3-associated neurodevelopmental disorders. Clinical genetics 100 (5) (2021)
Natalie B Tan, Alistair T Pagnamenta, Matteo P Ferla, Jonathan Gadian, Brian Hon-Yin Chung, Marcus Cy Chan, Jasmine Lf Fung, Edwin Cook, Stephen Guter, Felix Boschann, Andre Heinen, Jens Schallner, Cyril Mignot, Boris Keren, Sandra Whalen, Catherine Sarret, Dana Mittag, Laurie Demmer, Rachel Stapleton, Ken Saida, Naomichi Matsumoto, Noriko Miyake, Ruth Sheffer, Hagar Mor-Shaked, Christopher P Barnett, Alicia B Byrne, Hamish S Scott, Alison Kraus, Gerarda Cappuccio, Nicola Brunetti-Pierri, Raffaele Iorio, Fabiola Di Dato, Lynn S Pais, Alison Yeung, Tiong Yang Tan, Jenny C Taylor, John Christodoulou, Susan M White
Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability. Journal of medical genetics (2021)
James E D Thaventhiran, Hana Lango Allen, Oliver S Burren, William Rae, Daniel Greene, Emily Staples, Zinan Zhang, James H R Farmery, Ilenia Simeoni, Elizabeth Rivers, Jesmeen Maimaris, Christopher J Penkett, Jonathan Stephens, Sri V V Deevi, Alba Sanchis-Juan, Nicholas S Gleadall, Moira J Thomas, Ravishankar B Sargur, Pavels Gordins, Helen E Baxendale, Matthew Brown, Paul Tuijnenburg, Austen Worth, Steven Hanson, Rachel J Linger, Matthew S Buckland, Paula J Rayner-Matthews, Kimberly C Gilmour, Crina Samarghitean, Suranjith L Seneviratne, David M Sansom, Andrew G Lynch, Karine Megy, Eva Ellinghaus, David Ellinghaus, Silje F Jorgensen, Tom H Karlsen, Kathleen E Stirrups, Antony J Cutler, Dinakantha S Kumararatne, Anita Chandra, J David M Edgar, Archana Herwadkar, Nichola Cooper, Sofia Grigoriadou, Aarnoud P Huissoon, Sarah Goddard, Stephen Jolles, Catharina Schuetz, Felix Boschann, null null, Paul A Lyons, Matthew E Hurles, Sinisa Savic, Siobhan O Burns, Taco W Kuijpers, Ernest Turro, Willem Hendrik Ouwehand, Adrian J Thrasher, Kenneth G C Smith
Whole-genome sequencing of a sporadic primary immunodeficiency cohort. Nature 583 (7814) (2020)
Felix Boschann, Kyra E Stuurman, Christiaan de Bruin, Marjon van Slegtenhorst, Hermine A van Duyvenvoorde, Sarina G Kant, Nadja Ehmke
TGDS pathogenic variants cause Catel-Manzke syndrome without hyperphalangy. American journal of medical genetics. Part A 182 (3) (2019)

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Publication Activity (10 Years)

Top Topics

Top Venues

Felix Boschann