The clinical and molecular spectrum of AGO2-associated Lessel-Kreienkamp neurodevelopmental syndrome.

1. Institute of Human Genetics, University Medical Center Hamburg-Eppendorf,Martinistrasse 52, Hamburg, 20246 Germany
2. Institute of Human Genetics, University of Regensburg,Regensburg, Germany
3. Institute of Human Genetics, University Hospital Salzburg,Salzburg, Austria
4. Section in Developmental Neurogenomics, Human Genetics Branch, National Institute of Mental Health, National Institutes of Health (NIH),Bethesda, MD USA
5. Hospital Dr. Exequiel González Cortés,Santiago, Chile
6. Facultad de Ciencias Médicas, Universidad de Santiago de Chile (USACH),Santiago, Chile
7. Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust,Oxford, UK
8. Oxford Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, The Churchill Hospital,Oxford, UK
9. Retina Service, Wills Eye Hospital,840 Walnut Street, Philadelphia, PA 19107 USA
10. Department of Ophthalmology, Northwestern University, Feinberg School of Medicine,Chicago, IL 60611 USA
11. Service de Génétique Clinique, CLAD Ouest, CHU Rennes, Hôpital Sud,Rennes, France
12. Department of Human Genetics, University of California Los Angeles,Los Angeles, CA USA
13. Department of Medical Genetics, Medical School, Clinical Centre, University of Pécs,Pécs, Hungary
14. The Heart Institute and Division of Human Genetics, Cincinnati Children’s Hospital Medical Center,Cincinnati, USA
15. Department of Pediatrics, University of Cincinnati College of Medicine,Cincinnati, USA
16. Child Neurology Unit, Subspecialties Service, Geneva University Children’s Hospital,Geneva, Switzerland
17. Genetic Medicine Division, Diagnostics Department, University Hospitals of Geneva,Geneva, Switzerland
18. Department of Genetics and Genomics, Fundacion Jimenez Diaz University Hospital, Health Research Institute-Fundacion Jimenez Diaz, Universidad Autonoma de Madrid (IIS-FJD, UAM),Madrid, Spain
19. Center for Biomedical Network Research On Rare Diseases (CIBERER),Madrid, Spain
20. Pediatric Genetics, Dolly Parton Children’s Hospital, Knoxville, USA
21. General Genetics Service, Hunter Genetics,Waratah, NSW Australia
22. School of Medicine and Public Health, College of Health, Medicine and Wellbeing, University of Newcastle,Callaghan, NSW Australia
23. Division of Pediatric Genetics, Department of Pediatrics, School of Medicine, Acibadem University,Istanbul, Türkiye
24. Rare Diseases and Orphan Drugs Application and Research Center (ACURARE), Acibadem University,Istanbul, Türkiye
25. Department of Genome Studies, Health Sciences Institute, Acibadem University,Istanbul, Türkiye
26. Department of Translational Medicine, Health Sciences Institute, Acibadem University,Istanbul, Türkiye
27. Service de Médecine Génomique des Maladies Rares et Institut Imagine UMR-1163 Inserm, Université Paris Cité, Hôpital Necker-Enfants Malades, Assistance Publique des Hôpitaux de Paris,Paris, France
28. East Anglian Medical Genetics Service, Cambridge University Hospitals NHS Foundation Trust,Cambridge, UK
29. Department of Genomic Medicine, University of Cambridge,Cambridge, UK
30. Service de Génétique Médicale, CHU Nantes,9 Quai Moncousu, Nantes Cedex 1, 44093 France
31. L’Institut du Thorax, INSERM, CNRS, Université de Nantes,Nantes, 44007 France
32. Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center,Nashville, TN USA
33. Department of Pediatrics, New York University Grossman School of Medicine,New York, NY 10016 USA
34. Genetic Health Queensland, Royal Brisbane & Women’s Hospital,Brisbane, QLD Australia
35. Faculty of Health, Medicine and Behavioural Sciences, The University of Queensland,Brisbane, QLD Australia
36. Department of Medical Genetics, University of Helsinki,Helsinki, Finland
37. Disability Services, Wellbeing Services County of Kainuu, Kajaani, Finland
38. Department of Translational Neurosciences, University of Arizona College of Medicine – Phoenix,Phoenix, AZ 85004 USA
39. Center for Statistical Genetics, Gertrude H. Sergievsky Center, Department of Neurology, Columbia University Medical Centre,New York, NY 10032 USA
40. Manchester Centre for Genomic Medicine, St Mary’s Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester,Manchester, UK
41. Division of Evolution, Infection & Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester,Manchester, UK
42. Service de Cytogénétique Médicale, UIC CYTMRR, CHU Clermont-Ferrand,Clermont-Ferrand, France
43. Service de Génétique Médicale, CHU de Clermont Ferrand,Clermont Ferrand, France
44. Service de Génétique, Génomique Et Procréation, CHU Grenoble Alpes,Grenoble, France
45. Institute of Human Genetics, University Heidelberg,Heidelberg, Germany
46. Department of Medical Genetics, University Hospital Ostrava,Ostrava, Czech Republic
47. Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, 1st Faculty of Medicine, Charles University in Prague,Prague, Czech Republic
48. Clinic for Pediatrics I, Medical University of Innsbruck,Innsbruck, Austria
49. Institute for Human Genetics, Medical University Innsbruck,Innsbruck, Austria
50. Institute of Clinical Medicine, University of Tartu,Tartu, Estonia
51. Genetics and Personalized Medicine Clinic, Tartu University Hospital,Tartu, Estonia
52. Children’s Clinic, Department of General Paediatrics and Neurology, Tartu University Hospital,Tartu, Estonia
53. Institute of Medical Genetics, University of Zurich,Schlieren-Zurich, Switzerland
54. Service de Génétique Clinique, Robert Debré - APHP Nord - Université Paris Cité, ERN-ITHACA,Paris, France
55. Service de Cytogénomique, Hôpital Robert-Debré, APHP,Paris, France
56. Institute of Medical Genetics and Applied Genomics, University of Tübingen,Tübingen, Germany
57. Department of Clinical Genetics, CHU Toulouse,Toulouse, France
58. GeneDx, LLC,Gaithersburg, MD USA
59. Institute of Clinical Human Genetics, University Hospital Regensburg,Franz-Josef-Strauss-Allee 11, Regensburg, 93053 Germany

@article{tibbe2026clinical,
author = {Tibbe, Debora and Kiel, Christina and Ielesicheva, Olena and Robles de Maruri, Kerstin and Mahboobi, Helia and Züghart, Joschka and Hönck, Hans-Hinrich and Meier, Christoph and Biasella, Fabiola and Legüe, Marcela and Lopez Avaria, María Francisca and Blair, Edward and Lester, Tracy and Banos-Pinero, Benito and Pulido, Jose S. and Schneider, Adele and Procopio, Rebecca and Quelin, Chloe and Leal, Bailey J. and Martinez-Agosto, Julian A. and Bottomley, Stephanie A. and Till, Ágnes and Hadzsiev, Kinga and Szalai, Renata and Weaver, Kathryn Nicole and Fluss, Joel and Margot, Henri and Almoguera, Berta and Lorda-Sánchez, Isabel and López-López, Lucía and Hamm, J. Austin and Goel, Himanshu and Alanay, Yasemin and Akgun Doğan, Ozlem and Ozkose-Iyigel, Gulşah Şebnem and Baujat, Genevieve and Lesieur-Sebellin, Marion and Rondeau, Sophie and Schon, Katherine and Christopher, Joseph and Isidor, Bertrand and Cogne, Benjamin and Agrawal, Neena S. and Dahlhauser, Ryan and Furuta, Yutaka and Rabin, Rachel and Pappas, John and Patel, Chirag and Järvelä, Irma and Rauhala, Merja and Schrauwen, Isabelle and Leal, Suzanne M. and Banka, Siddharth and Tharakan, Riya and Pebrel-Richard, Céline and Laffargue, Fanny and Durand, Nelly and Celse, Tristan and Hempel, Maja and Valentin, Ilia and Gregorova, Andrea and Noskova, Lenka and Baumgartner, Sara and Überbacher, Christa and Muru, Kai and Murumets, Ülle and Lilles, Stella and Steindl, Katharina and Rauch, Anita and Ruscitti, Federica and Verloes, Alain and Levy, Jonathan and Park, Joohyun and Haack, Tobias B. and Bader, Ingrid and Julia, Sophie and Banneau, Guillaume and Muir, Alison M. and Lessel, Davor and Kreienkamp, Hans-Jürgen},
title = {{The clinical and molecular spectrum of AGO2-associated Lessel-Kreienkamp neurodevelopmental syndrome}},
journal = {Genome medicine},
year = {2026},
month = aug,
volume = {18},
number = {1},
pages = {125},
publisher = {BMC},
issn = {1756-994X},
doi = {10.1186/s13073-026-01745-4},
url = {https://doi.org/10.1186/s13073-026-01745-4},
pmid = {42638108},
pmcid = {PMC13501643}
}

TY - JOUR
AU - Tibbe, Debora
AU - Kiel, Christina
AU - Ielesicheva, Olena
AU - Robles de Maruri, Kerstin
AU - Mahboobi, Helia
AU - Züghart, Joschka
AU - Hönck, Hans-Hinrich
AU - Meier, Christoph
AU - Biasella, Fabiola
AU - Legüe, Marcela
AU - Lopez Avaria, María Francisca
AU - Blair, Edward
AU - Lester, Tracy
AU - Banos-Pinero, Benito
AU - Pulido, Jose S.
AU - Schneider, Adele
AU - Procopio, Rebecca
AU - Quelin, Chloe
AU - Leal, Bailey J.
AU - Martinez-Agosto, Julian A.
AU - Bottomley, Stephanie A.
AU - Till, Ágnes
AU - Hadzsiev, Kinga
AU - Szalai, Renata
AU - Weaver, Kathryn Nicole
AU - Fluss, Joel
AU - Margot, Henri
AU - Almoguera, Berta
AU - Lorda-Sánchez, Isabel
AU - López-López, Lucía
AU - Hamm, J. Austin
AU - Goel, Himanshu
AU - Alanay, Yasemin
AU - Akgun Doğan, Ozlem
AU - Ozkose-Iyigel, Gulşah Şebnem
AU - Baujat, Genevieve
AU - Lesieur-Sebellin, Marion
AU - Rondeau, Sophie
AU - Schon, Katherine
AU - Christopher, Joseph
AU - Isidor, Bertrand
AU - Cogne, Benjamin
AU - Agrawal, Neena S.
AU - Dahlhauser, Ryan
AU - Furuta, Yutaka
AU - Rabin, Rachel
AU - Pappas, John
AU - Patel, Chirag
AU - Järvelä, Irma
AU - Rauhala, Merja
AU - Schrauwen, Isabelle
AU - Leal, Suzanne M.
AU - Banka, Siddharth
AU - Tharakan, Riya
AU - Pebrel-Richard, Céline
AU - Laffargue, Fanny
AU - Durand, Nelly
AU - Celse, Tristan
AU - Hempel, Maja
AU - Valentin, Ilia
AU - Gregorova, Andrea
AU - Noskova, Lenka
AU - Baumgartner, Sara
AU - Überbacher, Christa
AU - Muru, Kai
AU - Murumets, Ülle
AU - Lilles, Stella
AU - Steindl, Katharina
AU - Rauch, Anita
AU - Ruscitti, Federica
AU - Verloes, Alain
AU - Levy, Jonathan
AU - Park, Joohyun
AU - Haack, Tobias B.
AU - Bader, Ingrid
AU - Julia, Sophie
AU - Banneau, Guillaume
AU - Muir, Alison M.
AU - Lessel, Davor
AU - Kreienkamp, Hans-Jürgen
TI - The clinical and molecular spectrum of AGO2-associated Lessel-Kreienkamp neurodevelopmental syndrome
T2 - Genome medicine
J2 - Genome Med
PY - 2026
DA - 2026/08/22
VL - 18
IS - 1
SP - 125
SN - 1756-994X
PB - BMC
DO - 10.1186/s13073-026-01745-4
UR - https://doi.org/10.1186/s13073-026-01745-4
LA - en
ER -

{
"id": "10.1186/s13073-026-01745-4",
"type": "article-journal",
"title": "The clinical and molecular spectrum of AGO2-associated Lessel-Kreienkamp neurodevelopmental syndrome",
"container-title": "Genome medicine",
"author": [
{
"family": "Tibbe",
"given": "Debora"
},
{
"family": "Kiel",
"given": "Christina"
},
{
"family": "Ielesicheva",
"given": "Olena"
},
{
"family": "Robles de Maruri",
"given": "Kerstin"
},
{
"family": "Mahboobi",
"given": "Helia"
},
{
"family": "Züghart",
"given": "Joschka"
},
{
"family": "Hönck",
"given": "Hans-Hinrich"
},
{
"family": "Meier",
"given": "Christoph"
},
{
"family": "Biasella",
"given": "Fabiola"
},
{
"family": "Legüe",
"given": "Marcela"
},
{
"family": "Lopez Avaria",
"given": "María Francisca"
},
{
"family": "Blair",
"given": "Edward"
},
{
"family": "Lester",
"given": "Tracy"
},
{
"family": "Banos-Pinero",
"given": "Benito"
},
{
"family": "Pulido",
"given": "Jose S."
},
{
"family": "Schneider",
"given": "Adele"
},
{
"family": "Procopio",
"given": "Rebecca"
},
{
"family": "Quelin",
"given": "Chloe"
},
{
"family": "Leal",
"given": "Bailey J."
},
{
"family": "Martinez-Agosto",
"given": "Julian A."
},
{
"family": "Bottomley",
"given": "Stephanie A."
},
{
"family": "Till",
"given": "Ágnes"
},
{
"family": "Hadzsiev",
"given": "Kinga"
},
{
"family": "Szalai",
"given": "Renata"
},
{
"family": "Weaver",
"given": "Kathryn Nicole"
},
{
"family": "Fluss",
"given": "Joel"
},
{
"family": "Margot",
"given": "Henri"
},
{
"family": "Almoguera",
"given": "Berta"
},
{
"family": "Lorda-Sánchez",
"given": "Isabel"
},
{
"family": "López-López",
"given": "Lucía"
},
{
"family": "Hamm",
"given": "J. Austin"
},
{
"family": "Goel",
"given": "Himanshu"
},
{
"family": "Alanay",
"given": "Yasemin"
},
{
"family": "Akgun Doğan",
"given": "Ozlem"
},
{
"family": "Ozkose-Iyigel",
"given": "Gulşah Şebnem"
},
{
"family": "Baujat",
"given": "Genevieve"
},
{
"family": "Lesieur-Sebellin",
"given": "Marion"
},
{
"family": "Rondeau",
"given": "Sophie"
},
{
"family": "Schon",
"given": "Katherine"
},
{
"family": "Christopher",
"given": "Joseph"
},
{
"family": "Isidor",
"given": "Bertrand"
},
{
"family": "Cogne",
"given": "Benjamin"
},
{
"family": "Agrawal",
"given": "Neena S."
},
{
"family": "Dahlhauser",
"given": "Ryan"
},
{
"family": "Furuta",
"given": "Yutaka"
},
{
"family": "Rabin",
"given": "Rachel"
},
{
"family": "Pappas",
"given": "John"
},
{
"family": "Patel",
"given": "Chirag"
},
{
"family": "Järvelä",
"given": "Irma"
},
{
"family": "Rauhala",
"given": "Merja"
},
{
"family": "Schrauwen",
"given": "Isabelle"
},
{
"family": "Leal",
"given": "Suzanne M."
},
{
"family": "Banka",
"given": "Siddharth"
},
{
"family": "Tharakan",
"given": "Riya"
},
{
"family": "Pebrel-Richard",
"given": "Céline"
},
{
"family": "Laffargue",
"given": "Fanny"
},
{
"family": "Durand",
"given": "Nelly"
},
{
"family": "Celse",
"given": "Tristan"
},
{
"family": "Hempel",
"given": "Maja"
},
{
"family": "Valentin",
"given": "Ilia"
},
{
"family": "Gregorova",
"given": "Andrea"
},
{
"family": "Noskova",
"given": "Lenka"
},
{
"family": "Baumgartner",
"given": "Sara"
},
{
"family": "Überbacher",
"given": "Christa"
},
{
"family": "Muru",
"given": "Kai"
},
{
"family": "Murumets",
"given": "Ülle"
},
{
"family": "Lilles",
"given": "Stella"
},
{
"family": "Steindl",
"given": "Katharina"
},
{
"family": "Rauch",
"given": "Anita"
},
{
"family": "Ruscitti",
"given": "Federica"
},
{
"family": "Verloes",
"given": "Alain"
},
{
"family": "Levy",
"given": "Jonathan"
},
{
"family": "Park",
"given": "Joohyun"
},
{
"family": "Haack",
"given": "Tobias B."
},
{
"family": "Bader",
"given": "Ingrid"
},
{
"family": "Julia",
"given": "Sophie"
},
{
"family": "Banneau",
"given": "Guillaume"
},
{
"family": "Muir",
"given": "Alison M."
},
{
"family": "Lessel",
"given": "Davor"
},
{
"family": "Kreienkamp",
"given": "Hans-Jürgen"
}
],
"container-title-short": "Genome Med",
"volume": "18",
"issue": "1",
"page": "125",
"DOI": "10.1186/s13073-026-01745-4",
"PMID": "42638108",
"PMCID": "PMC13501643",
"ISSN": "1756-994X",
"publisher": "BMC",
"URL": "https://doi.org/10.1186/s13073-026-01745-4",
"language": "en",
"issued": {
"date-parts": [
[
2026,
8,
22
]
]
}
}