Publications by authors named "Neeti Ghali"

Claim this Profile
V
Vascular Ehlers Danlos Syndrome and Chromosome 2q32 Microdeletion Syndrome.
Claire E Green, Shadi Albaba, Glenda J Sobey, Jessica M Bowen, Deirdre E Donnelly, Neeti Ghali

Eur J Hum Genet· October 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
A Palindrome-Like Structure on 16p13.3 Is Associated with the Formation of Complex Structural Variations and Haploinsufficiency.
Alistair T Pagnamenta, Jing Yu, Tracey A Willis, Mona Hashim, Eleanor G Seaby, Neeti Ghali

Hum Mutat· April 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
V
Vascular Ehlers-Danlos syndrome in children: evaluating the importance of diagnosis and follow-up during childhood.
Niamh R Wilkinson, Elena Cervi, Bart Wagner, Deborah Morris-Rosendahl, Duncan Baker, Neeti Ghali

Eur J Hum Genet· March 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Clinical diagnosis of the monogenic Ehlers-Danlos syndromes.
Fleur S van Dijk, Chloe Angwin, Serwet Demirdas, Neeti Ghali, Johannes Zschocke

Med Genet· December 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
N
Non-genetic diagnostic investigations in monogenic Ehlers-Danlos syndromes.
Fleur S van Dijk, Chloe Angwin, Neeti Ghali, Johannes Zschocke, Bart Wagner

Med Genet· December 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
L
Large-scale evaluation of outcomes after a genetic diagnosis in children with severe developmental disorders.
Harriet Copeland, Karen J Low, Sarah L Wynn, Ayesha Ahmed, Victoria Arthur, Neeti Ghali

Genet Med Open· October 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
E
Ehlers-Danlos syndromes: importance of defining the type.
Fleur S van Dijk, Neeti Ghali, Arvind Chandratheva

Pract Neurol· March 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
G
Genetic complexity of diagnostically unresolved Ehlers-Danlos syndrome.
Anthony M Vandersteen, Ruwan A Weerakkody, David A Parry, Christina Kanonidou, Daniel J Toddie-Moore, Neeti Ghali

J Med Genet· February 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
An exemplary model of genetic counselling for highly specialised services.
Juliette Harris, Marion Bartlett, Duncan Baker, Cheryl Berlin, Jessica Bowen, Neeti Ghali

J Community Genet· April 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Case report: Two individuals with -related classical-like EDS: Further clinical characterisation and description of novel variants.
Chloe Angwin, Neeti Ghali, Fleur Stephanie van Dijk

Front Genet· April 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Case report and discussion: Pre-implantation genetic diagnosis with surrogacy in vascular Ehlers-Danlos syndrome.
Chloe Angwin, Neeti Ghali, Fleur Stephanie van Dijk

Front Genet· March 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
O
Oral characteristics in adult individuals with periodontal Ehlers-Danlos syndrome.
Ulrike Lepperdinger, Chloe Angwin, Di Milnes, Glenda Sobey, Neeti Ghali

J Clin Periodontol· December 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
Amniotic band sequence in vascular Ehlers-Danlos Syndrome (EDS): Experience of the EDS National Diagnostic Services in the UK.
Schaida Schirwani, Fleur S van Dijk, Matthew Cauldwell, Rachel E Harrison, Alison Kraus, Neeti Ghali

Eur J Med Genet· October 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
T
The Phenotypic Continuum of -Related Disorders.
Aikaterini Vezyroglou, Rhoda Akilapa, Katy Barwick, Saskia Koene, Catherine A Brownstein, Neeti Ghali

Neurology· October 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
Atypical variants in COL1A1 and COL3A1 associated with classical and vascular Ehlers-Danlos syndrome overlap phenotypes: expanding the clinical phenotype based on additional case reports.
Marlies Colman, Marco Castori, Lucia Micale, Marco Ritelli, Marina Colombi, Neeti Ghali

Clin Exp Rheumatol· May 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
E
Expanding the phenotypic spectrum of ALDH18A1-related autosomal recessive cutis laxa with a description of novel neuroradiological findings.
Charlotte Pickwick, Bert Callewaert, Fleur van Dijk, Juliette Harris, Emma Wakeling, Neeti Ghali

Clin Dysmorphol· April 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
O
Orthopaedic Aspects of SAMS Syndrome.
Dirk E Schrander, Heleen M Staal, Colin A Johnson, Alistair Calder, Neeti Ghali

J Pediatr Genet· March 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
F
Further delineation of the clinical spectrum of White-Sutton syndrome: 12 new individuals and a review of the literature.
Oliver Murch, Vani Jain, Andreas Benneche, Kay Metcalfe, Emma Hobson, Neeti Ghali

Eur J Hum Genet· January 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
P
Prospective clinical investigations of children with periodontal Ehlers-Danlos syndrome identify generalized lack of attached gingiva as a pathognomonic feature.
Ines Kapferer-Seebacher, Elizabeth Oakley-Hannibal, Ulrike Lepperdinger, Diana Johnson, Neeti Ghali

Genet Med· February 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
Arterial complications in classical Ehlers-Danlos syndrome: a case series.
Chloe Angwin, Angela F Brady, F Michael Pope, Anthony Vandersteen, Duncan Baker, Neeti Ghali

J Med Genet· November 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Classical-like Ehlers-Danlos syndrome: a clinical description of 20 newly identified individuals with evidence of tissue fragility.
Claire Green, Neeti Ghali, Rhoda Akilapa, Chloe Angwin, Duncan Baker

Genet Med· October 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
E
Enrichment of Rare Variants in Loeys-Dietz Syndrome Genes in Spontaneous Coronary Artery Dissection but Not in Severe Fibromuscular Dysplasia.
Aline Verstraeten, Melanie H A M Perik, Anna A Baranowska, Josephina A N Meester, Lotte Van Den Heuvel, Neeti Ghali

Circulation· September 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Clinical findings of 21 previously unreported probands with HNRNPU-related syndrome and comprehensive literature review.
Anna Durkin, Shadi Albaba, Andrew E Fry, Jenny E Morton, Andrew Douglas, Neeti Ghali

Am J Med Genet A· July 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Clinical features, molecular results, and management of 12 individuals with the rare arthrochalasia Ehlers-Danlos syndrome.
Sandy Ayoub, Neeti Ghali, Chloe Angwin, Duncan Baker, Stella Baffini

Am J Med Genet A· May 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis