Expanding the phenotypic spectrum associated with ZIC1 variants: A neurodevelopmental disorder with and without craniosynostosis.

1. Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom
2. John Curtin School of Medical Research, Garran Rd, The Australian National University, Acton, ACT, Australia
3. Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, United Kingdom
4. Grupo de Investigación en Biomedicina Molecular, Celular y Genómica, Unidad CIBERER, Instituto de Investigación Sanitaria La Fe (IIS La Fe), Valencia, Spain
5. Molecular Neurosciences, Developmental Neurosciences, Zayed Centre for Research into Rare Disease in Children, UCL Great Ormond Street Institute of Child Health, London, United Kingdom
6. Department of Neurology, Great Ormond Street Hospital, London, United Kingdom
7. Kids Neuroscience Centre, The Children’s Hospital at Westmead, Faculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia
8. Université Paris Cité, INSERM UMR1163, Institut Imagine, Developmental Brain Disorders Laboratory, Paris, France
9. Département de Radiologie Pédiatrique, INSERM UMR 1163 and INSERM U1299, Institut Imagine, AP-HP, Necker Enfant Malade Hospital, Paris, France
10. Service de Médecine Génomique des Maladies Rares, Fédération de Génétique et Médecine Génomique, AP-HP, Hôpital Necker Enfants Malades, Paris, France
11. North of Scotland Regional Genetics Service, Ashgrove House, Foresterhill, Aberdeen, United Kingdom
12. Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds, United Kingdom; Castle Hill Hospital, Cottingham, Hull, United Kingdom
13. Genetics and Precision Medicine Department of Pediatrics, King Abdullah Specialized Children Hospital, King Abdulaziz Medical City, MNGHA, Riyadh, Saudi Arabia
14. King Abdullah International Medical Research Center (KAIMRC), King Saud bin Abdulaziz University for Health Sciences, MNGHA, Riyadh, Saudi Arabia
15. North West Thames Regional Genetics Service, London North West Healthcare NHS Trust, London, United Kingdom
16. Section of Genetics and Genomics, Department of Metabolism Digestion and Reproduction, Faculty of Medicine, Imperial College, London, United Kingdom
17. Hansjörg Wyss Department of Plastic Surgery, NYU Langone Medical Center, New York, NY
18. Departments of Pediatrics and Genetics, University of Colorado School of Medicine, Aurora, CO
19. Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, United Kingdom
20. Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, MD
21. Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD
22. Division of Genetics at Rady Children's Hospital, San Diego, CA
23. Department of Pediatrics at University of California, San Diego, CA
24. Fundación Centro Colombiano de Epilepsia y Enfermedades Neurológicas, FIRE, Cartagena de Indias, Colombia
25. Department of Medical Genetics, St. Olav's University Hospital, Trondheim, Norway
26. Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway
27. Division of Medical Genetics and Genomics, Stead Family Department of Pediatrics, University of Iowa Healthcare, Iowa City, IA
28. Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University in St Louis, St Louis, MO
29. Human Genome and Stem Cell Research Center, University of São Paulo, Institute of Bioscience, Department of Genetics and Evolutionary Biology, São Paulo, Brazil
30. Department of Laboratory Medicine, University of Gothenburg, Sahlgrenska Academy, Gothenburg, Sweden
31. Department of Clinical Genetics and Genomics, Sahlgrenska University Hospital, Gothenburg, Sweden
32. Department of Plastic Surgery, University of Gothenburg, Sahlgrenska Academy, Gothenburg, Sweden
33. Victorian Clinical Genetics Services, Murdoch Children’s Research Institute, Royal Children’s Hospital, Melbourne, Australia
34. Department of Paediatrics, University of Melbourne, Melbourne, Australia
35. Department of Clinical Genetics, Liverpool Women's NHS Foundation Trust, Liverpool, United Kingdom
36. Oxford Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, The Churchill Hospital, Oxford, United Kingdom
37. Division of Genetics and Metabolism, Khoo Teck Puat-National University Children’s Medical Institute, National University Hospital, Singapore
38. Department of Paediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore
39. Assistance Publique-Hôpitaux de Paris, Département de Génétique, Hôpital Pitié-Salpêtrière, Paris, France
40. Department of Clinical Genetics, University Pediatric Hospital, Sofia, Bulgaria
41. CENTOGENE GmbH, Rostock, Germany
42. Craniofacial Unit, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom
43. NIHR Oxford Biomedical Centre, Oxford, United Kingdom

@article{watts2026expanding,
author = {Watts, Laura M and Chang, Michelle SM and Lewis-Orr, Elizabeth and Walton, Isaac S and Leinhos, Lisa and Tooze, Rebecca S and Pei, Yang and Calpena, Eduardo and Vedovato-dos-Santos, J Heather and Steel, Dora and Reid, Kimberley M and Kurian, Manju A and Mohammad, Shekeeb S and Cantagrel, Vincent and Siquier, Karine and Boddaert, Nathalie and Rio, Marlene and Blyth, Moira and Kraus, Alison and Al Mutairi, Fuad and Holder, Susan E and Clowes, Virginia E and Cobben, Jan M and Timberlake, Andrew T and Elias, Ellen R and Stewart, Helen and Johnson, Diana and Cohen, Julie S and Barañano, Kristin W and Ceulemans, Sophia and Jones, Marilyn C and Ortega Rico, Rita I and Haug, Marte G and Berland, Siren and Bombei, Hannah M and Paulson, Anna and Sidhu, Alpa and Gooch, Catherine F and da Rocha, Kátia M and Passos Bueno, Maria Rita and Ţopa, Alexandra and Muslimovic, Aida Z and Maltese, Giovanni and Tan, Tiong Yang and McCann, Emma and Lord, Helen and Chin, Hui-lin and Lin, Jeremy and Li-Meng Goh, Denise and Keren, Boris and Charles, Perrine and Delchev, Trayan and Avdjieva-Tzavella, Daniela and Alawbathani, Salem and Almeida, Ligia and Kdissa, Ameni and Al-Ali, Ruslan and Bertoli-Avella, Aida M and Johnson, David and Wilkie, Andrew OM and Arkell, Ruth M and Shears, Deborah J and Twigg, Stephen RF},
title = {{Expanding the phenotypic spectrum associated with ZIC1 variants: A neurodevelopmental disorder with and without craniosynostosis}},
journal = {Genetics in medicine : official journal of the American College of Medical Genetics},
year = {2026},
month = apr,
volume = {28},
number = {6},
pages = {102585},
publisher = {Elsevier BV},
issn = {1098-3600},
doi = {10.1016/j.gim.2026.102585},
url = {https://doi.org/10.1016/j.gim.2026.102585},
pmid = {42028696},
pmcid = {PMC13328068}
}

TY - JOUR
AU - Watts, Laura M
AU - Chang, Michelle SM
AU - Lewis-Orr, Elizabeth
AU - Walton, Isaac S
AU - Leinhos, Lisa
AU - Tooze, Rebecca S
AU - Pei, Yang
AU - Calpena, Eduardo
AU - Vedovato-dos-Santos, J Heather
AU - Steel, Dora
AU - Reid, Kimberley M
AU - Kurian, Manju A
AU - Mohammad, Shekeeb S
AU - Cantagrel, Vincent
AU - Siquier, Karine
AU - Boddaert, Nathalie
AU - Rio, Marlene
AU - Blyth, Moira
AU - Kraus, Alison
AU - Al Mutairi, Fuad
AU - Holder, Susan E
AU - Clowes, Virginia E
AU - Cobben, Jan M
AU - Timberlake, Andrew T
AU - Elias, Ellen R
AU - Stewart, Helen
AU - Johnson, Diana
AU - Cohen, Julie S
AU - Barañano, Kristin W
AU - Ceulemans, Sophia
AU - Jones, Marilyn C
AU - Ortega Rico, Rita I
AU - Haug, Marte G
AU - Berland, Siren
AU - Bombei, Hannah M
AU - Paulson, Anna
AU - Sidhu, Alpa
AU - Gooch, Catherine F
AU - da Rocha, Kátia M
AU - Passos Bueno, Maria Rita
AU - Ţopa, Alexandra
AU - Muslimovic, Aida Z
AU - Maltese, Giovanni
AU - Tan, Tiong Yang
AU - McCann, Emma
AU - Lord, Helen
AU - Chin, Hui-lin
AU - Lin, Jeremy
AU - Li-Meng Goh, Denise
AU - Keren, Boris
AU - Charles, Perrine
AU - Delchev, Trayan
AU - Avdjieva-Tzavella, Daniela
AU - Alawbathani, Salem
AU - Almeida, Ligia
AU - Kdissa, Ameni
AU - Al-Ali, Ruslan
AU - Bertoli-Avella, Aida M
AU - Johnson, David
AU - Wilkie, Andrew OM
AU - Arkell, Ruth M
AU - Shears, Deborah J
AU - Twigg, Stephen RF
TI - Expanding the phenotypic spectrum associated with ZIC1 variants: A neurodevelopmental disorder with and without craniosynostosis
T2 - Genetics in medicine : official journal of the American College of Medical Genetics
J2 - Genet Med
PY - 2026
DA - 2026/04/22
VL - 28
IS - 6
SP - 102585
SN - 1098-3600
PB - Elsevier BV
DO - 10.1016/j.gim.2026.102585
UR - https://doi.org/10.1016/j.gim.2026.102585
LA - en
ER -

{
"id": "10.1016/j.gim.2026.102585",
"type": "article-journal",
"title": "Expanding the phenotypic spectrum associated with ZIC1 variants: A neurodevelopmental disorder with and without craniosynostosis",
"container-title": "Genetics in medicine : official journal of the American College of Medical Genetics",
"author": [
{
"family": "Watts",
"given": "Laura M"
},
{
"family": "Chang",
"given": "Michelle SM"
},
{
"family": "Lewis-Orr",
"given": "Elizabeth"
},
{
"family": "Walton",
"given": "Isaac S"
},
{
"family": "Leinhos",
"given": "Lisa"
},
{
"family": "Tooze",
"given": "Rebecca S"
},
{
"family": "Pei",
"given": "Yang"
},
{
"family": "Calpena",
"given": "Eduardo"
},
{
"family": "Vedovato-dos-Santos",
"given": "J Heather"
},
{
"family": "Steel",
"given": "Dora"
},
{
"family": "Reid",
"given": "Kimberley M"
},
{
"family": "Kurian",
"given": "Manju A"
},
{
"family": "Mohammad",
"given": "Shekeeb S"
},
{
"family": "Cantagrel",
"given": "Vincent"
},
{
"family": "Siquier",
"given": "Karine"
},
{
"family": "Boddaert",
"given": "Nathalie"
},
{
"family": "Rio",
"given": "Marlene"
},
{
"family": "Blyth",
"given": "Moira"
},
{
"family": "Kraus",
"given": "Alison"
},
{
"family": "Al Mutairi",
"given": "Fuad"
},
{
"family": "Holder",
"given": "Susan E"
},
{
"family": "Clowes",
"given": "Virginia E"
},
{
"family": "Cobben",
"given": "Jan M"
},
{
"family": "Timberlake",
"given": "Andrew T"
},
{
"family": "Elias",
"given": "Ellen R"
},
{
"family": "Stewart",
"given": "Helen"
},
{
"family": "Johnson",
"given": "Diana"
},
{
"family": "Cohen",
"given": "Julie S"
},
{
"family": "Barañano",
"given": "Kristin W"
},
{
"family": "Ceulemans",
"given": "Sophia"
},
{
"family": "Jones",
"given": "Marilyn C"
},
{
"family": "Ortega Rico",
"given": "Rita I"
},
{
"family": "Haug",
"given": "Marte G"
},
{
"family": "Berland",
"given": "Siren"
},
{
"family": "Bombei",
"given": "Hannah M"
},
{
"family": "Paulson",
"given": "Anna"
},
{
"family": "Sidhu",
"given": "Alpa"
},
{
"family": "Gooch",
"given": "Catherine F"
},
{
"family": "da Rocha",
"given": "Kátia M"
},
{
"family": "Passos Bueno",
"given": "Maria Rita"
},
{
"family": "Ţopa",
"given": "Alexandra"
},
{
"family": "Muslimovic",
"given": "Aida Z"
},
{
"family": "Maltese",
"given": "Giovanni"
},
{
"family": "Tan",
"given": "Tiong Yang"
},
{
"family": "McCann",
"given": "Emma"
},
{
"family": "Lord",
"given": "Helen"
},
{
"family": "Chin",
"given": "Hui-lin"
},
{
"family": "Lin",
"given": "Jeremy"
},
{
"family": "Li-Meng Goh",
"given": "Denise"
},
{
"family": "Keren",
"given": "Boris"
},
{
"family": "Charles",
"given": "Perrine"
},
{
"family": "Delchev",
"given": "Trayan"
},
{
"family": "Avdjieva-Tzavella",
"given": "Daniela"
},
{
"family": "Alawbathani",
"given": "Salem"
},
{
"family": "Almeida",
"given": "Ligia"
},
{
"family": "Kdissa",
"given": "Ameni"
},
{
"family": "Al-Ali",
"given": "Ruslan"
},
{
"family": "Bertoli-Avella",
"given": "Aida M"
},
{
"family": "Johnson",
"given": "David"
},
{
"family": "Wilkie",
"given": "Andrew OM"
},
{
"family": "Arkell",
"given": "Ruth M"
},
{
"family": "Shears",
"given": "Deborah J"
},
{
"family": "Twigg",
"given": "Stephen RF"
}
],
"container-title-short": "Genet Med",
"volume": "28",
"issue": "6",
"page": "102585",
"DOI": "10.1016/j.gim.2026.102585",
"PMID": "42028696",
"PMCID": "PMC13328068",
"ISSN": "1098-3600",
"publisher": "Elsevier BV",
"URL": "https://doi.org/10.1016/j.gim.2026.102585",
"language": "en",
"issued": {
"date-parts": [
[
2026,
4,
22
]
]
}
}