Publications
Featured Publication
Nature Genetics
Base editing of trinucleotide repeats that cause Huntington’s disease and Friedreich’s ataxia reduces somatic repeat expansions in patient cells and in mice
Zaneta Matuszek, Mandana Arbab, Maheswaran Kesavan, Alvin Hsu, Jennie C. L. Roy, Jing Zhao, Tian Yu, Ben Weisburd, Gregory A. Newby, Neil J. Doherty, Muzhou Wu, Shota Shibata, Ana Cristian, Y. Allen Tao, Liam G. Fearnley, Melanie Bahlo, Heidi L. Rehm, Jun Xie, Guangping Gao, Ricardo Mouro Pinto & David R. Liu
Nat Genet. 2025 May 26. doi: 10.1038/s41588-025-02172-8. Epub ahead of print. PMID: 40419681.
doi: 10.1038/s41588-025-02172-8
2026
Neurology
The Role of Academic Medical Centers in Personalized Experimental Therapeutic Development
Dies KA, Yu TW, Chamberlin NL, Holm IA, Beggs AH, Kennedy KO, Fleming JC, Pomeroy SL, Urion DK, Srivastava S.
Neurology. 2026 Feb 10;106(3):e214610. doi: 10.1212/WNL.0000000000214610.
doi: 10.1212/WNL.0000000000214610
American Journal of Medical Genetics Part A
The Infant and Toddler Developmental Profile of Kleefstra Syndrome
Shanna L. Yue, Rajapillai L. I. Pillai, Zoë Frazier, Hailey Osika, Meg Quinn, Jillian O’Toole, Brynn Heslin, Bo Zhang, Kira A. Dies, Lynn Pais, Anne O’Donnell-Luria, Max A. Horlbeck, Joe Kossowsky, Jonathan Lipton, Siddharth Srivastava
American Journal of Medical Genetics Part A 1–6. https://doi.org/10.1002/ajmga.70071.
Genetics in Medicine
International Clinical Evidence-based Guideline for Kleefstra Syndrome
Bouman A, Gaasterland CMW, Sloof-Enthoven C, Draksler TZ, Rots D, Geelen JM, Morison LD, Morgan AT, Wicher D, Rivero S, Fernández-Ulibarri I, Drake J, O’Donnell Luria A, Pickup L, Shalhoub C, Milani D, Hennekam RC, Tumiene B, Dies KA, Garavelli L, Bedeschi MF, Danieli A, van Renssen LV, Palmer EE, Grosdemouge I, Hadzsiev K, Ousager LB, Frazier Z, Chopra M, Szakszon K, Ewans L, Srivastava S, Balbo N, Caterino E, Schenck A, Smith R, Boonstra FN, van Till SAL, Vasireddi SK, Brian Chung HY, Klein Haneveld MJ, Vyshka K; ERN Ithaca Guideline Working group; Kleefstra T
Genet Med. 2026 Jan 20:102070. doi: 10.1016/j.gim.2026.102070. Epub ahead of print. PMID: 41578867
doi: 10.1016/j.gim.2026.102070
2025
Neurobiology of Disease
Human iPSC-derived glutamatergic neurons with pathogenic KCNQ2 variants display hyperactive bursting phenotypes
Sundberg M, Shum C, Norabuena EM, Makhortova NR, Chen C, Yu L, Wightman EV, Kim K, Han SY, Howe J, Poduri A, Buttermore ED, Scherer SW, Sahin M.
Neuronbiol Dis. 2025 Nov;216:107126. doi: 10.1016/j.nbd.2025.107126
doi: 10.1016/j.nbd.2025.107126
Neurobiology of Disease
Excitatory cortical neurons from CDKL5 deficiency disorder patient-derived organoids show early hyperexcitability not identified in neurogenin2 induced neurons
Glass MR, Whye D, Anderson NC, Wood D, Makhortova NR, Polanco T, Kim KH, Donovan KE, Srinivasan GR, Vaccaro L, Jain A, Cacchiarelli D, Sun L, Olson H, Buttermore ED, Sahin M.
Neurobiol Dis. 2025 Oct 15;215:107093. doi: 10.1016/j.nbd.2025.107093
doi: 10.1016/j.nbd.2025.107093
Science
Noncanonical circuits, states, and computations of the hippocampus
Farrell, JS, Soltesz I.
Science. 2025 Sep 11;389(6765):eadv4420. doi: 10.1126/science.adv4420. Epub 2025 Sep 11. PMID: 40934322.
American Journal on Intellectual and Developmental Disabilities
Genetic Subtypes of Phelan-McDermid Syndrome Exhibit Similar Rates of Change Despite Differences in Level of Impairment in Developmental Constructs
Levy T, Farmer C, Srivastava S, Johnson K, Trayvick J, Burne C, Massa A, Silver H, Siper PM, Zweifach J, Halpern D, Foss-Feig JH, Bernstein JA, Berry-Kravis E, Powell CM, Sahin M, Soorya LV, Thurm A, Buxbaum JD, Kolevzon A.
Am J Intellect Dev Disabil. 2025 Sep 1;130(5):380-413. doi: 10.1352/1944-7558-130.5.395. PMID: 40858310.
doi: 10.1352/1944-7558-130.5.395
American Journal on Intellectual and Developmental Disabilities
Longitudinal Trajectory of Adaptive Skills in Phelan-McDermid Syndrome
Srivastava S, Johnson K, Farmer C, Levy T, Thurm A, Valluripalli Soorya L, Filip-Dhima R, Quinlan A, Bernstein JA, Berry-Kravis E, Powell CM, Buxbaum JD, Sahin M, Kolevzon A.
Am J Intellect Dev Disabil. 2025 Sep 1;130(5):380-394. doi: 10.1352/1944-7558-130.5.380. PMID: 40858307.
doi: 10.1352/1944-7558-130.5.380
Clinical Genetics
Expansion of the Genotypic and Phenotypic Spectrum of SETD5 Disorder Using Data From the National Brain Gene Registry
Callahan NC, Mahida S, Sveden A, Quinn M, Chopra M, Srivastava S;
Clin Genet. 2025 Sep;108(3):279-291. doi: 10.111/cge14746. Epub 2025 Apr 23. PMID: 40265665.
Nature Cell Biology
Ribogenesis shaping the brain
Tien Phuoc Train, Emily K Osterweil
Nat Cell Biol. 2025 Aug;27(8):1202-1203. doi: 10.1038/s41556-025-01725-7
doi: 10.1038/s41556-025-01725-7
Frontiers in Neuroscience
mTORC1-selective inhibitors rescue cellular phenotypes in TSC iPSC-derived neurons
Buttermore ED, Srinivasan GR, Jumo H, Swanson AC, O’Kelly B, Makhortova NR, Sahin M, Tzannis ST. Frazier TW, Busch RM, Klaas P, Lachlan K, Loth E, Smith-Hicks C, Sahin M, Hardan AY, Uljarevic M
Front Neurosci. 2025 Jul 28;19:1595880. doi: 10.3389/fnins.2025.1595880. PMID: 40792287; PMCID: PMC12337281.
doi: 10.3389/fnins.2025.1595880
Developmental Medicine & Child Neurology
Quantifying neurobehavioral profiles across neurodevelopmental genetic syndromes and idiopathic neurodevelopmental disorders
Frazier TW, Busch RM, Klaas P, Lachlan K, Loth E, Smith-Hicks C, Sahin M, Hardan AY, Uljarevic M
Dev Med Child Neurol. 2025 May;67(5):618-629. doi: 10.1111/dmcn.16112. Epub 2024 Nov 11. PMID: 39526825; PMCID: PMC11965975.
Nature Genetics
Base editing of trinucleotide repeats that cause Huntington’s disease and Friedreich’s ataxia reduces somatic repeat expansions in patient cells and in mice
Zaneta Matuszek, Mandana Arbab, Maheswaran Kesavan, Alvin Hsu, Jennie C. L. Roy, Jing Zhao, Tian Yu, Ben Weisburd, Gregory A. Newby, Neil J. Doherty, Muzhou Wu, Shota Shibata, Ana Cristian, Y. Allen Tao, Liam G. Fearnley, Melanie Bahlo, Heidi L. Rehm, Jun Xie, Guangping Gao, Ricardo Mouro Pinto & David R. Liu
Nat Genet. 2025 May 26. doi: 10.1038/s41588-025-02172-8. Epub ahead of print. PMID: 40419681.
doi: 10.1038/s41588-025-02172-8
eNeuro
Syngap+/- CA1 Pyramidal Neurons Exhibit Upregulated Translation of Long MRNAs Associated with LTP.
Aditi Singh, Manuela Rizzi, Sang S Seo, Emily K Osterweil
eNeuro. 2025 May 19;12(5). doi: 10.1523/ENEURO.0086-25.2025
doi: 10.1523/ENEURO.0086-25.2025
Sage Open Pediatrics
Development of a Patient and Caregiver-Cetnered Pediatric Disease Concept Model for Kleefstra Syndrome
Kristen L. Connors, Nikkola E. Carmichael, Terry Jo Bichell, Kira A. Dies, and Zoë J. Frazier
Sage Open Pediatrics. 2025;12.; doi:10.1177/30502225251336880
Cell Reports
Non-ionotropic signaling through the NMDA receptor GluN2B carboxy-terminal domain drives dendritic spine plasticity and reverses fragile X phenotypes.
Stephanie A Barnes, Aurore Thomazeau, Peter S B Finnie, Maxwell J Heinrich, Arnold J Heynen, Noburu H Komiyama, Seth G N Grant, Frank S Menniti, Emily K Osterweil, Mark F Bear
Cell Rep. 2025 Mar 25;44(3):115311; doi: 10.1016/j.celrep.2025.115311
doi: 10.1016/j.celrep.2025.115311
Frontiers in Neuroscience
Harnessing the potential of human induced pluripotent stem cells, functional assays and machine learning for neurodevelopmental disorders
Ziqin Yang, Nicole A Teaney, Elizabeth D Buttermore, Mustafa Sahin, Wardiya Afshar-Saber
Front Neurosci. 2025 Jan 8; doi: 10.3389/fnins.2024.1524577. PMID: 39844857
doi: 10.3389/fnins.2024.1524577
Nature Communications
Non-muscle myosin II inhibition at the site of axon injury increases axon regeneration
Keunjung Heo, Tammy Szu-Yu Ho, Xiangsunze Zeng, Bruna Lenfers Turnes, Maryam Arab, Selwyn Jayakar, Kuchuan Chen, Georgios Kimourtzis, Michael C Condro, Elisa Fazzari, Xuan Song , J Tabitha Hees, Zhuqiu Xu, Xirui Chen, Lee B Barrett, Laura Perrault, Roshan Pandey, Kathleen Zhang, Aparna Bhaduri, Zhigang He, Harley I Kornblum, Jed Hubbs, Clifford J Woolf
Nat Commun. 2025 Mar 26; doi: 10.1038/s41467-025-58303-6. PMID: 40140393
doi: 10.1038/s41467-025-58303-6
Translational Psychiatry
Shared early molecular mechanisms revleaved in P301S and 5xFAD Alzheimer’s disease mouse models
Huda Suloh , Shashank Kumar Ojha, Maryam Kartawy, Wajeha Hamoudi, Manish Kumar Tripathi, Wisam Bazbaz, Nofar Schottlender, Uri Ashery, Igor Khaliulin, Haitham Amal
Transl Psychiatry. 2025 Mar 26; doi: 10.1038/s41398-025-03321-7. PMID: 40140365
doi: 10.1038/s41398-025-03321-7
2024
Clinical Genetics
Novel Phenotypes and Genotype-Phenotype Correlations in a Large Clinical Cohort of Patients with Kleefstra Syndrome
Zoë J Frazier, Seyda Kilic, Hailey Osika, Alisa Mo, Meg Quinn, Sonia Ballal, Tamar Katz, A Eliot Shearer, Max A Horlbeck, Lynn S Pais, Kira A Dies, Anne O’Donnell-Luria, Joe Kossowsky, Jonathan O Lipton, Tjitske Kleefstra, Siddarth Srivastava
Clin Genet. 2025 Jan 2. doi: 10.1111/cge.14697. Epub ahead of print. PMID: 39746677.
Developmental Cognitive Neuroscience
EEG-based brain age prediction in infants-toddlers: Implications for early detection of neurodevelopmental disorders
Winko W. An, Aprotim C. Bhowmik, Charles A. Nelson, Carol L. Wilkinson
Dev Cogn Neurosci. 2024 Dec 18;71:101493. doi: 10.1016/j.dcn.2024.101493.Epub ahead of print. PMID: 39721149.
doi: 10.1016/j.dcn.2024.101493.
Annals of Neurology
Survey of the Landscape of Society Practice Guidelines for Genetic Testing of Neurodevelopmental Disorders
Siddharth Srivastava, Jordan J Cole, Julie S Cohen, Maya Chopra, Hadley Stevens Smith, Matthew A Deardorff, Ernest Pedapati, Brian Corner, Julia S Anixt, Shafali Jeste, Mustafa Sahin, Christina A Gurnett, Colleen A Campbell;
Ann Neurol. 2024 Nov;96(5):900-913. doi: 10.1002/ana.27045. Epub 2024 Sep 25.
https://doi.org/10.1002/ana.27045
American Journal of Medical Genetics
Deletions in the CDKL5 5 untranslated region lead to CDKL5 deficiency disorder
Isabel Haviland, Ralph D. Hector, Lindsay C. Swanson, Aubrie Soucy Verran, Emma Sherrill, Zoë Frazier, AnneMarie M. Denny, Jenna Lucash, Bo Zhang, Holly A. Dubbs, Eric D. Marsh, Judith L. Weisenberg, Helen Leonard, Milena Crippa, Francesca Cogliati, Silvia Russo, Bernhard Suter, Rajsekar Rajaraman, Alan K. Percy, John M. Schreiber, Scott Demarest, Timothy A. Benke, Maya Chopra, Timothy W. Yu, Heather E. Olson.
Am J Med Genet A. 2024 Aug 28. doi: 10.1002/ajmg.a.63843. Epub ahead of print. PMID:39205479.
https://doi.org/10.1002/ajmg.a.63843
Journal of Inherited Metabolic Disease
Gene replacement therapies for inherited disorders of neurotransmission: Current progress in succinic semialdehyde dehydrogenase deficiency
Henry H C Lee, Itay Tokatly Latzer, Mariarita Bertoldi, Guangping Gao, Phillip L Pearl, Mustafa Sahin, Alexander Rotenberg
J Inherit Metab Dis. 2024 Apr 6. doi: 10.1002/jimd.12735. Epub ahead of print. PMID: 38581234.
https://doi.org/10.1002/jimd.12735
Neurobiology of Disease
ALDH5A1-deficient iPSC-derived excitatory and inhibitory neurons display cell type specific alterations
Neurobiol Dis. 2024 Jan;190:106386. doi: 10.1016/j.nbd.2023.106386. Epub 2023 Dec 16. PMID: 38110041.
https://doi.org/10.1016/j.nbd.2023.106386
2023
Genetics in Medicine
Clinical variants paired with phenotype: A rich resource for brain gene curation
Maya Chopra, Juliann M Savatt, Taylor I Bingaman, Molly E Good, Alexis Morgan, Caitlin Cooney, Allison M Rossel, Bryanna VanHoute, Ineke Cordova, Sonal Mahida, Virginia Lanzotti, Dustin Baldridge, Christina A Gurnett, Joseph Piven, Heather Hazlett, Scott L Pomeroy, Mustafa Sahin, Philip R O Payne, Erin Rooney Riggs, John N Constantino; Brain Gene Registry Consortium
Genet Med. 2023 Dec 4:101035. doi: 10.1016/j.gim.2023.101035. Epub ahead of print. PMID: 38059438.
DOI: 10.1016/j.gim.2023.101035
JAMA Pediatrics
Rare De Novo and Inherited Genes in Familial and Nonfamilial Pediatric Attention-Deficit/Hyperactivity Disorder
Anne B Arnett, Elizabeth Harstad, Mia O’Connell, Katheryn Hayes, Stephanie Brewster, William Barbaresi, Ryan N Doan
JAMA Pediatr. 2023 Nov 20:e234952.
https://doi.org/10.1001/jamapediatrics.2023.4952
Therapeutic Advances in Rare Disease
Persistence of Autism Spectrum Disorder From Early Childhood Through School Age
Elizabeth Harstad, Ellen Hanson, Stephanie J Brewster, Rafael DePillis, Anna L Milliken, Gabriella Aberbach, Georgios Sideridis, William J Barbaresi
DOI: 10.1001/jamapediatrics.2023.4003
Therapeutic Advances in Rare Disease
Toward Representative Genomic Research: the Children’s Rare Disease Cohorts Experience
Zoë J. Frazier, Eurnestine Brown, Shira Rockowitz, Ted Lee, Bo Zhang, Abigail Sveden, Nancy L. Chamberlin, Kira A. Dies, Annapurna Poduri, Piotr Sliz and Maya Chopra on behalf of the CRDC Consortium
Therapeutic Advances in Rare Disease 2023 10.1177/263300402311814062.
https://doi.org/10.1177/26330040231181406
GeneReviews
ANKRD17-Related Neurodevelopmental Syndrome Synonym: Chopra-Amiel-Gordon Syndrome (CAGS)
Abigail Sveden, Christopher Gordon, Jeanne Amiel, Maya Chopra
Sveden A, Gordon CT, Amiel J, et al. ANKRD17-Related Neurodevelopmental Syndrome. 2022 Dec 22. In: Adam MP, Everman DB, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2022.
https://www.ncbi.nlm.nih.gov/books/NBK1116/
Current Protocols
A Robust Pipeline for the Multi-Stage Accelerated Differentiation of Functional 3D Cortical Organoids From Human Pluripotent Stem Cells
Dosh Whye, Delaney Wood, Wardiya Afshar Saber, Erika M. Norabuena, Nina R. Makhortova, Mustafa Sahin, Elizabeth D. Buttermore
Current Protocols, 3, e641 (2023).
https://doi.org/10.1002/cpz1.641
2022
Academic Press
Phenotyping of Human iPSC-derived Neurons: Patient-Driven Research
Edited by Elizabeth D. Buttermore
Phenotyping of Human iPSC-derived Neurons, Academic Press, 2023, ISBN 9780128222775, https://doi.org/10.1016/B978-0-12-822277-5.20001-1
Frontiers in Psychiatry
16p13.11 deletion variants associated with neuropsychiatric disorders cause morphological and synaptic changes in induced pluripotent stem cell-derived neurons
Elizabeth D. Buttermore, Nickesha Anderson, Pin-Fang Chen, Nina R. Makhortova, Kristina H. Kim, Syed M. A. Wafa, Sean Dwyer, John M. Micozzi, Kellen D. Winden, Bo Zhang, Min-Joon Han, Robin J. Kleiman, Catherine A. Brownstein, Mustafa Sahin, and Joseph Gonzalez-Heydrich
Front. Psychiatry, 03 November 2022, Sec. Molecular Psychiatry, https://doi.org/10.3389/fpsyt.2022.924956
JAMA Neurology
Molecular Diagnostic Yield of Exome Sequencing and Chromosomal Microarray in Cerebral Palsy: A Systematic Review and Meta-analysis
Siddharth Srivastava, Sara Lewis, Julie Cohen, Bo Zhang, Bhooma Aravamuthan, Maya Chopra, Mustafa Sahin, Michael Kruer, Annapurna Poduri
JAMA Neurology, 2022; Volume 2, Issue 10 e568, https://doi.org/10.1001/jamaneurol.2022.3549
Molecular Therapy Methods & Clinical Development
GENE TARGET: A framework for evaluating Mendelian neurodevelopmental disorders for gene therapy
Maya Chopra, Meera E. Modi, Kira A. Dies, Nancy L. Chamberlin, Elizabeth D. Buttermore, Stephanie Jo Brewster, Lisa Prock, Mustafa Sahin
Molecular Therapy Methods & Clinical Development. Volume 27, 8 December 2022, Pages 32-46.
https://doi.org/10.1016/j.omtm.2022.08.007
Frontiers in Integrative Neuroscience
Neural response to repeated auditory stimuli and its association with early language ability in male children with Fragile X syndrome
Winko An, Charles Nelson, and Carol Wilkinson
Front. Integr. Neurosci., 14 November 2022, https://doi.org/10.3389/fnint.2022.987184
Current Protocols
Dynamic 3D Combinatorial Generation of hPSC-Derived Neuromesodermal Organoids With Diverse Regional and Cellular Identities
Dosh Whye, Delaney Wood, Kristina H. Kim, Cidi Chen, Nina Makhortova, Mustafa Sahin, Elizabeth D. Buttermore
Current Protocols, 2022; Volume 2, Issue 10 e568, https://doi.org/10.1002/cpz1.568
Human Molecular Genetics
A randomized controlled trial of everolimus for neurocognitive symptoms in PTEN hamartoma tumor syndrome
Siddharth Srivastava, Booil Jo, Bo Zhang, Thomas Frazier, Anne Snow Gallagher, Fleming Peck, April R Levin, Sangeeta Mondal, Zetan Li, Rajna Filip-Dhima, Gregory Geisel, Kira A Dies, Amelia Diplock, Charis Eng, Rabi Hanna, Mustafa Sahin, Antonio Hardan, the Developmental Synaptopathies Consortium
Human Molecular Genetics, 2022; ddac111, https://doi.org/10.1093/hmg/ddac111
The American Journal of Human Genetics
Neurodevelopmental copy-number variants: A roadmap to improving outcomes by uniting patient advocates, researchers, and clinicians for collective impact
Elizabeth Buttermore, Stormy Chamberlain, Jannine Cody, Gregory Costain, Louis Dang, Andrew DeWoody, Yssa DeWoody, Kira Dies, Evan Eichler, Santhosh Girirajan, Marie Gramm, Alycia Halladay, Dennis Lal, Matthew Lalli, Tess Levy, Glennis Logsdon, Daniel Lowenstein, Heather Mefford, Jennifer Mulle, Alysson Muotri, Melissa Murphy, Eduardo Perez Palma, Stefan Pinter, Rebecca Pollak, Ryan Purcell, Rodney Samaco, Bina Shah, Karun Singh, Joyce So, Maria Sundberg, Surabi Veeraragavan, Vanessa Vogel-Farley, Anthony Wynshaw-Boris
The American Journal of Human Genetics. Volume 109, Issue 8, 2021, Pages 1353-1365.
https://doi.org/10.1016/j.ajhg.2022.07.003
Journal of Neurodevelopmental Disorders
Validation of a computational phenotype for finding patients eligible for genetic testing for pathogenic PTEN variants across three centers
Cartik Kothari, Siddharth Srivastava, Youssef Kousa, Rima Izem, Marcin Gierdalski, Dongkyu Kim, Amy Good, Kira A. Dies, Gregory Geisel, Hiroki Morizono, Vittorio Gallo, Scott L. Pomeroy, Gwenn A. Garden, Lisa Guay-Woodford, Mustafa Sahin & Paul Avillach
Journal of Neurodevelopmental Disorders 14, 24 (2022).
https://doi.org/10.1186/s11689-022-09434-0
Molecular Therapy
Gene-based therapeutics for rare genetic neurodevelopmental psychiatric disorders
Beverly L. Davidson, Guangping Gao, Elizabeth Berry-Kravis, Allison M. Bradbury, Carsten Bönnemann, Joseph D. Buxbaum, Gavin R. Corcoran, Steven J. Gray, Heather Gray-Edwards, Robin J. Kleiman, Adam J. Shaywitz, Dan Wang, Huda Y. Zoghbi, Terence R. Flotte, Sitra Tauscher-Wisniewski, Cynthia J. Tifft, Mustafa Sahin
Molecular Therapy , Volume 30, Issue 7, 2022, Pages 2416-2428, ISSN 1525-0016,
https://doi.org/10.1016/j.ymthe.2022.05.014.
2021
The American Journal of Human Genetics
Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism
Maya Chopra, Meriel McEntagart, Jill Clayton-Smith, Konrad Platzer, Anju Shukla, Katta M. Girisha, Anupriya Kaur, Parneet Kaur, Rolph Pfundt, Hermine Veenstra-Knol, Grazia M.S. Mancini, Gerarda Cappuccio, Nicola Brunetti-Pierri, Fanny Kortüm, Maja Hempel, Jonas Denecke, Anna Lehman, Tjitske Kleefstra, Kyra E. Stuurman, Martina Wilke, Michelle L. Thompson, E. Martina Bebin, Emilia K. Bijlsma, Mariette J.V. Hoffer, Cacha Peeters-Scholte, Anne Slavotinek, William A. Weiss, Tiffany Yip, Ugur Hodoglugil, Amy Whittle, Janette diMonda, Juanita Neira, Sandra Yang, Amelia Kirby, Hailey Pinz, Rosan Lechner, Frank Sleutels, Ingo Helbig, Sarah McKeown, Katherine Helbig, Rebecca Willaert, Jane Juusola, Jennifer Semotok, Medard Hadonou, John Short, Naomi Yachelevich, Sajel Lala, Alberto Fernández-Jaen, Janvier Porta Pelayo, Chiara Klöckner, Susanne B. Kamphausen, Rami Abou Jamra, Maria Arelin, A. Micheil Innes, Anni Niskakoski, Sam Amin, Maggie Williams, Julie Evans, Sarah Smithson, Damian Smedley, Anna de Burca, Usha Kini, Martin B. Delatycki, Lyndon Gallacher, Alison Yeung, Lynn Pais, Michael Field, Ellenore Martin, Perrine Charles, Thomas Courtin, Boris Keren, Maria Iascone, Anna Cereda, Gemma Poke, Véronique Abadie, Christel Chalouhi, Padmini Parthasarathy, Benjamin J. Halliday, Stephen P. Robertson, Stanislas Lyonnet, Jeanne Amiel, Christopher T. Gordon
The American Journal of Human Genetics, Volume 108, Issue 6, 2021, Pages 1138-1150,ISSN 0002-9297, https://doi.org/10.1016/j.ajhg.2021.04.007.