Article
Genetics & Heredity
Scott R. Plotkin, Ludwine Messiaen, Eric Legius, Patrice Pancza, Robert A. Avery, Jaishri O. Blakeley, Dusica Babovic-Vuksanovic, Rosalie Ferner, Michael J. Fisher, Jan M. Friedman, Marco Giovannini, David H. Gutmann, Clemens Oliver Hanemann, Michel Kalamarides, Hildegard Kehrer-Sawatzki, Bruce R. Korf, Victor-Felix Mautner, Mia MacCollin, Laura Papi, Katherine A. Rauen, Vincent Riccardi, Elizabeth Schorry, Miriam J. Smith, Anat Stemmer-Rachamimov, David A. Stevenson, Nicole J. Ullrich, David Viskochil, Katharina Wimmer, Kaleb Yohay, Susan M. Huson, Pierre Wolkenstein, D. Gareth Evans
Summary: The study aims to update the diagnostic criteria for neurofibromatosis type 2 (NF2) and schwannomatosis (SWN) by incorporating recent advances in genetics, ophthalmology, neuropathology, and neuroimaging. The updated criteria include clinical features and genetic testing, emphasizing the phenotypic overlap between the two conditions.
GENETICS IN MEDICINE
(2022)
Review
Biochemistry & Molecular Biology
Suha Bachir, Sanjit Shah, Scott Shapiro, Abigail Koehler, Abdelkader Mahammedi, Ravi N. Samy, Mario Zuccarello, Elizabeth Schorry, Soma Sengupta
Summary: NF2 patients are highly likely to develop meningiomas and vestibular schwannomas, which can lead to significant morbidity. Mutations in the NF2 gene are closely associated with benign proliferative conditions, emphasizing the importance of early intervention and treatment.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Dermatology
A. Plana-Pla, B. Garcia, M. Munera-Campos, N. Catasus, E. Serra Arenas, I Blanco, E. Castellanos Perez, I Bielsa
Summary: This study characterized cutaneous lesions in a Spanish cohort of patients with NF2 and investigated associations with clinical and genetic severity. The findings showed that cutaneous lesions, especially plexiform schwannomas, are common in NF2 and usually appear at an early age, providing useful diagnostic and prognostic information.
JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY
(2022)
Article
Oncology
Junhyung Kim, Yukyeng Byeon, Sang Woo Song, Young Hyun Cho, Chang-Ki Hong, Seok Ho Hong, Jeong Hoon Kim, Do Heui Lee, Ji Eun Park, Ho Sung Kim, Young-Hoon Kim
Summary: SRS treatment can adequately control progressive NF2-associated VS, but the short-term effects of this treatment are not highly advantageous in terms of preserving hearing function.
FRONTIERS IN ONCOLOGY
(2022)
Review
Oncology
Mohammad Amin Ghalavand, Alimohamad Asghari, Mohammad Farhadi, Farzad Taghizadeh-Hesary, Masoud Garshasbi, Masoumeh Falah
Summary: Neurofibromatosis type 2 (NF2) is a genetic condition characterized by the development of multiple benign tumors in the nervous system. The most common tumors associated with NF2 are bilateral vestibular schwannoma, meningioma, and ependymoma. Clinical diagnosis is based on the Manchester criteria, which have been updated in the last decade.
CANCER CELL INTERNATIONAL
(2023)
Article
Medicine, Research & Experimental
Shilpa Prabhakar, Roberta L. Beauchamp, Pike See Cheah, Akiko Yoshinaga, Edwina Abou Haidar, Sevda Lule, Gayathri Mani, Katia Maalouf, Anat Stemmer-Rachamimov, David H. Jung, Bradley Welling, Marco Giovannini, Scott R. Plotkin, Casey A. Maguire, Vijaya Ramesh, Xandra O. Breakefield
Summary: Loss of function of the NF2 tumor suppressor gene leads to the formation of certain types of tumors. This study demonstrates that introducing merlin back into NF2-null schwannomas through gene replacement can cause tumor regression. In a mouse model, injection of AAV1-merlin resulted in decreased tumor size, reduced cell division, and increased apoptosis.
MOLECULAR THERAPY-METHODS & CLINICAL DEVELOPMENT
(2022)
Article
Chemistry, Multidisciplinary
Marta Armentano, Luca Lucchino, Ludovico Alisi, Antonio Valerio Chicca, Valerio Di Martino, Emanuele Miraglia, Ludovico Iannetti, Anna Maria Comberiati, Sandra Giustini, Alessandro Lambiase, Antonietta Moramarco
Summary: Neurofibromatosis type 2 (NF2) is a genetically determined tumor-predisposing syndrome with ocular manifestations including cataracts, epiretinal membranes, retinal hamartomas, optic disk gliomas, and optic nerve sheath meningiomas. Other indirect signs such as optic disk edema, optical atrophy, motility disorders, pupil and lid dysfunction, and neurotrophic keratitis can also be observed.
APPLIED SCIENCES-BASEL
(2023)
Article
Otorhinolaryngology
Victoria Y. Wang, Te-Yi Liu, Te-Yung Fang, Ya-Hui Chen, Chi-Jung Huang, Pa-Chun Wang
Summary: In this family, hearing impairment was the most common clinical manifestation. The NF2 gene is a gene of interest that warrants familial genetic screening.
ACTA OTO-LARYNGOLOGICA
(2022)
Review
Biochemistry & Molecular Biology
Ryota Tamura
Summary: Neurofibromatosis is a neurocutaneous syndrome characterized by tumors in the nervous system, with NF1, NF2, and SWN as its three main types. While NF1 and NF2 have known genetic mutations and targeted therapies, the molecular mechanisms of SWN remain unclear and require further research.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Clinical Neurology
Nasser Mohammed, Yi-Chieh Hung, Zhiyuan Xu, Tomas Chytka, Roman Liscak, Manjul Tripathi, David Arsanious, Christopher P. Cifarelli, Marco Perez Caceres, David Mathieu, Herwin Speckter, Gautam U. Mehta, Gregory P. Lekovic, Jason P. Sheehan
Summary: This study examines the role of Gamma Knife radiosurgery (GKRS) in the treatment of NF2-associated meningiomas and evaluates the outcomes and complications. The results show that increasing the maximum dose and a lower number of meningiomas at presentation predict better tumor control. The study suggests that GKRS achieves effective tumor control with a low rate of complications in NF2-associated meningiomas.
JOURNAL OF NEUROSURGERY
(2022)
Review
Genetics & Heredity
Tin-Suet Joan Lee, Meera Chopra, Raymond H. Kim, Patricia C. Parkin, Carolina Barnett-Tapia
Summary: This study provides updated estimates of the incidence and prevalence of NF1 and NF2, highlighting a potential underestimation of NF1 prevalence. More studies are needed to determine the prevalence of NF2, and these findings can help in healthcare planning and allocation.
ORPHANET JOURNAL OF RARE DISEASES
(2023)
Article
Biochemistry & Molecular Biology
Brandon Havranek, Shahidul M. Islam
Summary: The majority of disease-causing genetic variations in the human genome are due to non-synonymous single nucleotide polymorphisms (nsSNPs). This study focused on investigating the pathogenic effect of 14 nsSNPs in the merlin FERM domain, identifying G197C and L234R mutations as deleterious mutations associated with mild and severe forms of NF2. Molecular dynamics simulations showed that mutant structures were more flexible than the wildtype, with the L234R mutation exhibiting greater structural instability, potentially impacting merlin's ability to regulate the Hippo signaling pathway.
JOURNAL OF BIOMOLECULAR STRUCTURE & DYNAMICS
(2021)
Article
Clinical Neurology
Heather L. Thompson, Ann Blanton, Barbara Franklin, Vanessa L. Merker, Kevin H. Franck, D. Bradley Welling
Summary: The study systematically evaluated published patient-reported outcome measures for hearing function and hearing-related quality of life, recommending specific measures for use in NF2 clinical trials. Measures were selected based on participant characteristics, item content, psychometric properties, and feasibility for use in clinical trials. Further research is needed to demonstrate the utility of these measures in evaluating interventions.
Article
Genetics & Heredity
Jineta Banerjee, Jan M. Friedman, Laura J. Klesse, Kaleb H. Yohay, Justin T. Jordan, Scott R. Plotkin, Robert J. Allaway, Jaishri O. Blakeley
Summary: This study investigated whether patients with rare diseases such as neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2), or schwannomatosis (SWN) are more susceptible to SARS-CoV-2 infection and severe COVID-19. The results showed that the proportion of positive cases in NF1, NF2, or SWN patients was not significantly higher than in individuals without these rare diseases. There were no severe outcomes reported in the NF2 or SWN cohorts, and the proportion of severe outcomes in NF1 patients was similar to other rare disease cohorts and the general population.
GENETICS IN MEDICINE
(2023)
Article
Oncology
Scott R. Plotkin, Jeffrey Allen, Girish Dhall, Jian L. Campian, D. Wade Clapp, Michael J. Fisher, Rakesh K. Jain, James Tonsgard, Nicole J. Ullrich, Coretta Thomas, Lloyd J. Edwards, Bruce Korf, Roger Packer, Matthias A. Karajannis, Jaishri O. Blakeley
Summary: In this prospective multicenter phase II study, the efficacy, safety, and tolerability of bevacizumab for maintenance therapy in persons with NF2-SWN and hearing loss due to VS were evaluated. The results showed that maintenance bevacizumab (5 mg/kg every 3 weeks) was associated with high rates of hearing and tumor stability during 18 months of follow-up. No new unexpected adverse events related to bevacizumab were identified in this population.
Article
Clinical Neurology
Katherine Sadler, John Bowes, Charlie F. Rowlands, Cristina Perez-Becerril, C. Mwee van der Meer, Andrew T. King, Scott A. Rutherford, Omar N. Pathmanaban, Charlotte Hammerbeck-Ward, Simon K. W. Lloyd, Simon R. Freeman, Ricky Williams, Cathal John Hannan, Daniel Lewis, Steve Eyre, D. Gareth Evans, Miriam J. Smith
Summary: A genome-wide association study revealed that rs1556516 in the 9p21.3 region is associated with the risk of vestibular schwannoma. The dysregulation of CDKN2B-AS1 and CDKN2A/B genes in this region has been linked to multiple pathologies, and these genes have been shown to influence each other's expression. The recurrent associations of the 9p21.3 region with known oncogenic pathways provide compelling evidence for its involvement in vestibular schwannoma tumorigenesis.
Article
Oncology
Eleanor Roberts, Sacha Howell, D. Gareth Evans
Summary: Polygenic Risk Scores (PRS) play a crucial role in accurate breast cancer risk prediction and have the potential to improve screening and prevention strategies. By combining the risk from single nucleotide polymorphisms (SNPs) associated with breast cancer in Genome Wide Association Studies (GWAS), PRS explain over 30% of the heritability of breast cancer. Incorporating PRS into risk models enables personalized risk assessment and the implementation of stratified screening and prevention approaches.
Article
Clinical Neurology
Cathal John Hannan, Daniel Lewis, Claire O'Leary, Mueez Waqar, David Brough, Kevin N. Couper, Douglas P. Dyer, Andy Vail, Calvin Heal, Joshua Macarthur, Christopher Cooper, Charlotte Hammerbeck-Ward, D. Gareth Evans, Scott A. Rutherford, Simon K. Lloyd, Simon Richard Mackenzie Freeman, David John Coope, Andrew T. King, Omar Nathan Pathmanaban
Summary: There is evidence that macrophage infiltration in the tumor microenvironment promotes the growth of vestibular schwannoma (VS). The efficacy of bevacizumab in NF2-associated VS demonstrates the value of targeting the microvascular tumor microenvironment, and tumor-associated macrophages (TAMs) may represent another druggable target.
Article
Oncology
Lorna McWilliams, Helen Ruane, Fiona Ulph, Victoria G. Woof, Fiona Harrison, D. Gareth Evans, David P. French
Summary: Risk-stratified breast screening is being considered for national breast screening programmes. This study aimed to explore the psychological impact of undergoing risk-stratified screening within England's NHS Breast Screening Programme. The findings suggest that risk-stratified breast screening is generally accepted but issues related to risk communication and access to care pathways need to be considered for implementation.
BRITISH JOURNAL OF CANCER
(2023)
Article
Oncology
D. Gareth Evans, Lorna McWilliams, Susan Astley, Adam R. Brentnall, Jack Cuzick, Richard Dobrashian, Stephen W. Duffy, Louise S. Gorman, Elaine F. Harkness, Fiona Harrison, Michelle Harvie, Andrew Jerrison, Matthew Machin, Anthony J. Maxwell, Sacha J. Howell, Stuart J. Wright, Katherine Payne, Nadeem Qureshi, Helen Ruane, Jake Southworth, Lynne Fox, Sarah Bowers, Gillian Hutchinson, Emma Thorpe, Fiona Ulph, Victoria Woof, Anthony Howell, David P. French
Summary: The study developed BC-Predict, a risk assessment tool that collects standard risk factor information, mammographic density, and Polygenic Risk Score (PRS) to predict the risk of breast cancer. The results showed that inviting women at high and moderate risk for additional screening and preventive measures can increase the uptake of preventive medication.
BRITISH JOURNAL OF CANCER
(2023)
Article
Oncology
David P. French, Lorna McWilliams, Sarah Bowers, Victoria G. Woof, Fiona Harrison, Helen Ruane, Alice Hendy, D. Gareth Evans
Summary: Adding risk stratification to the NHS Breast Screening Programme allows additional prevention and screening options for high-risk women, but may also increase cancer worry. This study found that offering risk stratification did not increase anxiety or cancer worry, even for women informed of being at high risk.
BRITISH JOURNAL OF CANCER
(2023)
Correction
Oncology
D. Gareth Evans, Lorna McWilliams, Susan Astley, Adam R. R. Brentnall, Jack Cuzick, Richard Dobrashian, Stephen W. W. Duffy, Louise S. S. Gorman, Elaine F. F. Harkness, Fiona Harrison, Michelle Harvie, Andrew Jerrison, Matthew Machin, Anthony J. J. Maxwell, Sacha J. J. Howell, Stuart J. Wright, Katherine Payne, Nadeem Qureshi, Helen Ruane, Jake Southworth, Lynne Fox, Sarah Bowers, Gillian Hutchinson, Emma Thorpe, Fiona Ulph, Victoria Woof, Anthony Howell, David P. P. French
BRITISH JOURNAL OF CANCER
(2023)
Article
Genetics & Heredity
D. Gareth Evans, George J. Burghel, Helene Schlecht, Elaine F. Harkness, Ashu Gandhi, Sacha J. Howell, Anthony Howell, Claire Forde, Fiona Lalloo, William G. Newman, Miriam Jane Smith, Emma Roisin Woodward
Summary: This study aimed to investigate the frequency of germline pathogenic variants (PVs) in women with bilateral breast cancer. BRCA1/2 and CHEK2 c.1100delC molecular analysis were conducted in 764 samples, and a multigene panel was performed in 156 samples. The detection rates of PVs were assessed according to age at first primary, Manchester Score, and breast pathology. The results showed high rates of detection of BRCA1 and BRCA2 PVs in triple negative and grade 3 ER+HER2- first primary diagnoses, respectively. The study also found that the ER status of the first primary strongly predicted the ER status of the second contralateral tumor in BRCA1/2 patients.
JOURNAL OF MEDICAL GENETICS
(2023)
Article
Oncology
Mark van Barele, Delal Akdeniz, Bernadette A. M. Heemskerk-Gerritsen, Margreet G. E. M. Genepso, Nadine Andrieu, Catherine Nogues, Encarnacion B. Hebon, Christi J. van Asperen, Marijke Wevers, Margreet G. E. M. Ausems, Geertruida H. de Bock, Charlotte J. Dommering, Encarnacion B. Gomez-Garcia, Flora E. van Leeuwen, Thea M. Mooij, Carole Embrace, Douglas F. Easton, Antonis C. Antoniou, D. Gareth Evans, Louise Izatt, Marc Tischkowitz, Debra Frost, Carole Brewer, Edit Olah, Jacques Simard, Christian F. Singer, Mads Thomassen, Karin Kast, Kerstin Rhiem, Christoph Engel, Miguel de la Hoya, Lenka Foretova, Anna Jakubowska, Agnes Jager, Margriet G. A. Sattler, Marjanka K. Schmidt, Maartje J. Hooning
Summary: This study found that adjuvant radiation therapy for primary breast cancer may increase the risk of contralateral breast cancer in patients with gBRCA1/2 pathogenic variant. This is especially concerning for young patients who already have a high risk of contralateral breast cancer and potentially increased genetic susceptibility to radiation.
JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE
(2023)
Article
Oncology
Anna Morra, Maartje A. C. Schreurs, Irene L. Andrulis, Hoda Anton-Culver, Annelie Augustinsson, Matthias W. Beckmann, Sabine Behrens, Stig E. Bojesen, Manjeet K. Bolla, Hiltrud Brauch, Annegien Broeks, Saundra S. Buys, Nicola J. Camp, Jose E. Castelao, Melissa H. Cessna, Jenny Chang-Claude, Wendy K. Chung, Sarah Colonna, Fergus J. Couch, Angela Cox, Simon S. Cross, Kamila Czene, Mary B. Daly, Joe Dennis, Peter Devilee, Thilo Doerk, Alison M. Dunning, Miriam Dwek, Douglas F. Easton, Diana M. Eccles, Mikael Eriksson, D. Gareth Evans, Peter A. Fasching, Tanja N. Fehm, Jonine D. Figueroa, Henrik Flyger, Marike Gabrielson, Manuela Gago-Dominguez, Montserrat Garcia-Closas, Jose A. Garcia-Saenz, Jeanine A. Genkinger, Felix Grassmann, Melanie Guendert, Eric Hahnen, Christopher Haiman, Ute Hamann, Patricia A. Harrington, Jaana M. Hartikainen, Reiner Hoppe, John L. Hopper, Richard S. Houlston, Anthony Howell, Anna Jakubowska, Wolfgang Janni, Helena Jernstroem, Esther M. John, Nichola Johnson, Michael E. Jones, Vessela N. Kristensen, Allison Kurian, Diether Lambrechts, Loic Le Marchand, Annika Lindblom, Jan Lubinski, Michael P. Lux, Arto Mannermaa, Dimitrios Mavroudis, Anna Marie Mulligan, Taru A. Muranen, Heli Nevanlinna, Ines Nevelsteen, Patrick Neven, William G. Newman, Nadia Obi, Kenneth Offit, Andrew F. Olshan, Tjoung-Won Park-Simon, Alpa Patel, Paolo Peterlongo, Kelly-Anne Phillips, Dijana Plaseska-Karanfilska, Eric C. Polley, Nadege Presneau, Katri Pylkas, Brigitte Rack, Paolo Radice, Muhammad U. Rashid, Valerie Rhenius, Mark Robson, Atocha Romero, Emmanouil Saloustros, Elinor J. Sawyer, Rita K. Schmutzler, Sabine Schuetze, Christopher Scott, Mitul T. Shah, Snezhana Smichkoska, Melissa C. Southey, William J. Tapper, Lauren R. Teras, Rob A. E. M. Tollenaar, Katarzyna Tomczyk, Ian Tomlinson, Melissa Troester, Celine Vachon, Elke van Veen, Qin Wang, Camilla Wendt, Hans Wildiers, Robert A. Winqvist, Argyrios Ziogas, Per Hall, Paul D. P. Pharoah, Muriel Adank, Antoinette Hollestelle, Marjanka K. Schmidt, Maartje Hooning
Summary: Breast cancer patients with the CHEK2 c.1100delC variant have an increased risk of contralateral breast cancer and worse survival. Systemic therapy is associated with reduced contralateral breast cancer risk, regardless of CHEK2 c.1100delC status. Patients with the CHEK2 c.1100delC variant have shorter survival, which is not fully explained by their contralateral breast cancer risk.
Article
Endocrinology & Metabolism
Peter W. Horby, Natalie Staplin, Leon Peto, Jonathan R. Emberson, Mark Campbell, Guilherme Pessoa-Amorim, Buddha Basnyat, Louise Thwaites, Rogier van Doorn, Raph L. Hamers, Jeremy Nel, John Amuasi, Manisha Rawal, Dipansu Ghosh, Jonathan Douse, Fergus Hamilton, Anthony Kerry, Pinky Thu-Ta, John Widdrington, Christopher A. Green, Purav Desai, Richard Stewart, Nguyen Thanh Phong, J. Kenneth Baillie, Maya Buch, Saul N. Faust, Thomas Jaki, Edmund Juszczak, Katie Jeffery, Marian Knight, Wei Shen Lim, Alan Montgomery, Aparna Mukherjee, Andrew Mumford, Kathryn Rowan, Guy Thwaites, Marion Mafham, Richard Haynes, Martin J. Landray
Summary: Empagliflozin is not associated with reduced mortality, hospital stay, or progression to invasive mechanical ventilation or death in hospitalized adults with COVID-19.
LANCET DIABETES & ENDOCRINOLOGY
(2023)
Article
Oncology
D. Gareth Evans, Dorothy Halliday, Rupert Obholzer, Shazia Afridi, Claire Forde, Scott A. Rutherford, Charlotte Hammerbeck-Ward, Simon K. Lloyd, Simon M. Freeman, Omar N. Pathmanaban, Owen M. Thomas, Roger D. Laitt, Stavros Stivaros, John-Paul Kilday, Grace Vassallo, Catherine McBain, Timothy Lavin, Chay Paterson, Gillian Whitfield, Martin G. McCabe, Patrick R. Axon, Jane Halliday, Samuel Mackeith, Allyson Parry, Elaine F. Harkness, Juliette Buttimore, Andrew T. King
Summary: The use of radiation treatment for benign tumors in NF2-related schwannomatosis patients is associated with an increased risk of subsequent malignancy/malignant progression. Compared to other treatment methods, radiation treatment is more likely to lead to the development of CNS malignancies. Therefore, the use of radiation treatment for benign tumors in NF2 patients should be avoided, and patients should be given thorough explanations.
NEURO-ONCOLOGY ADVANCES
(2023)
Review
Oncology
Pal Moller, Toni T. Seppala, Aysel Ahadova, Emma J. Crosbie, Elke Holinski-Feder, Rodney Scott, Saskia Haupt, Gabriela Moeslein, Ingrid Winship, Sanne W. Bajwa-ten Broeke, Kelly E. Kohut, Neil Ryan, Peter Bauerfeind, Laura E. Thomas, D. Gareth Evans, Stefan Aretz, Rolf H. Sijmons, Elizabeth Half, Karl Heinimann, Karoline Horisberger, Kevin Monahan, Christoph Engel, Giulia Martina Cavestro, Robert Fruscio, Naim Abu-Freha, Levi Zohar, Luigi Laghi, Lucio Bertario, Bernardo Bonanni, Maria Grazia Tibiletti, Leonardo S. Lino-Silva, Carlos Vaccaro, Adriana Della Valle, Benedito Mauro Rossi, Leandro Apolinario da Silva, Ivana Lucia de Oliveira Nascimento, Norma Teresa Rossi, Tadeusz Debniak, Jukka-Pekka Mecklin, Inge Bernstein, Annika Lindblom, Lone Sunde, Sigve Nakken, Vincent Heuveline, John Burn, Eivind Hovig, Matthias Kloor, Julian R. Sampson, Mev Dominguez-Valentin, Prospective Lynch Syndrome Database, European Hereditary Tumour Grp
Summary: The recognition of hereditary micro-satellite instable (MSI) cancers caused by pathogenic variants in mismatch repair (MMR) genes has changed our understanding of carcinogenesis. The four Lynch syndromes, each caused by loss of function variants in MMR genes, are characterized by different levels and types of cancer. In Lynch syndromes, carcinogenesis follows a linear process with a dynamic balance between MSI production and the host's immune system. Colonoscopy surveillance, aspirin prevention, and immunotherapy are important advancements in preventing and treating hereditary MSI cancer.
HEREDITARY CANCER IN CLINICAL PRACTICE
(2023)
Meeting Abstract
Biochemistry & Molecular Biology
Snezana Stankovic, Janet Vos, Rachel van der Post, Fulvia Brugnoletti, Saskia Koene, Janneke Schuurs-Hoeijmakers, Bianca Hilhorst, Lilian Vreede, D. Gareth Evans, Katharina Wimmer, Alexander Volk, Robin de Putter, Leila Soikkonen, Arjen Mensenkamp, Maurizio Genuardi, Marjolijn Ligtenberg, Nicoline Hoogerbrugge, Richarda De Voer
EUROPEAN JOURNAL OF HUMAN GENETICS
(2023)
Meeting Abstract
Biochemistry & Molecular Biology
Joanna Domenech-Vivo, Helene Tubeuf, Romy L. S. Mesman, Aurelie Drouet, Melanie Girardi, Maria Concepcion Alonso-Cerezo, Diana Baralle, Nadia Boutry-Kryza, Dave Bunyan, Helen J. Byers, Kathleen Claes, D. Gareth Evans, Miguel de la Hoya, Sophie Krieger, Conxi Lazaro, Melanie Leone, Eva Machackova, Mireia Menendez, Alejandro Moles-Fernandez, Gemma Montalban, Elke van Veen, Judith Balmana, Amanda B. Spurdle, Orland Diez, Maaike Vreeswijk, Alexandra Martins, Sara Gutierrez-Enriquez
EUROPEAN JOURNAL OF HUMAN GENETICS
(2023)