Publications by authors named "Ataf Sabir"

Claim this Profile
H
Heterozygous pathogenic variants in the splicing factor SF1 lead to a large spectrum of neurodevelopmental disorders.
Johnny Bou-Rouphael, Auriane Cospain, Thomas Courtin, Boris Keren, Corentine Marie, Sabir Ataf

Am J Hum Genet· November 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
I
Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies.
Sébastien Küry, Janelle E Stanton, Geeske M van Woerden, Amélie Bosc-Rosati, Tzung-Chien Hsieh, Ataf Sabir

Nat Commun· November 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
A novel case of Al Kaissi syndrome in a 4-year-old boy: increasing significance of hydrocephalus and extending the phenotype.
Haaziq Sheikh, Naveed Hussain, Ataf H Sabir

Clin Dysmorphol· October 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
Acute-onset axonal neuropathy following infection in children with biallelic RCC1 variants: a case series.
J Robert Harkness, John H McDermott, Shea Marsden, Peter Jamieson, Kay A Metcalfe, Ataf Sabir

Lancet Neurol· August 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
D
De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa.
Mathieu Quinodoz, Kim Rodenburg, Zuzana Cvackova, Karolina Kaminska, Suzanne E de Bruijn, Ataf H Sabir

medRxiv· January 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
A novel variant in PTPN11, c.1277A>G p.(His426Arg), in a patient with Noonan syndrome with multiple lentigines.
Olivia Kuo, Kevin Molloy, Ataf Sabir, Andrew Fleming, Matthew Edwards

Clin Exp Dermatol· August 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
G
Growth reference charts for children with hypochondroplasia.
Moira S Cheung, Tim J Cole, Paul Arundel, Nicola Bridges, Christine P Burren, Ataf Sabir

Am J Med Genet A· February 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Moyamoya disease/cerebral vasculopathy in osteopathia striata with cranial sclerosis: a rare but important complication.
Lucy Scrimshaw, Kathleen Gorman, Sahar Mansour, Vijeya Ganesan, Ataf Sabir

Clin Dysmorphol· January 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
U
Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene in neurodevelopmental proteasomopathies.
Sébastien Küry, Janelle E Stanton, Geeske van Woerden, Tzung-Chien Hsieh, Cory Rosenfelt, Ataf Sabir

medRxiv· January 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Case Report: Osteosclerotic metaphyseal dysplasia with optic nerve involvement and progressive osteonecrosis of the jaw due to a novel LRRK1 mutation.
Chariklia Pieridou, Ataf Sabir, Jonathan Lancashire, Yifan Liang, Kevin McMillan

Front Endocrinol (Lausanne)· November 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
I
Influence of autozygosity on common disease risk across the phenotypic spectrum.
Daniel S Malawsky, Eva van Walree, Benjamin M Jacobs, Teng Hiang Heng, Qin Qin Huang, Ataf H Sabir

Cell· October 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
B
Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype-phenotype correlation study.
Lucy Loong, Agostina Tardivo, Alexej Knaus, Mona Hashim, Alistair T Pagnamenta, Ataf Sabir

Genet Med· January 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
A challenging diagnosis of the PIK3CA-related overgrowth spectrum.
Ataf Hussain Sabir, Alessandra Cocca, Moira Cheung, Melita Irving

Clin Dysmorphol· October 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
Automated reanalysis application to assist in detecting novel gene-disease associations after genome sequencing.
Nana E Mensah, Ataf H Sabir, Andrew Bond, Wendy Roworth, Melita Irving

Genet Med· April 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
Autosomal recessive EXT2 syndrome - extending the phenotypic spectrum of an emerging condition, a further case?
Ataf H Sabir, Juhi Singhal, Jessica Man, Nicola Cooper, Moira Cheung

Clin Dysmorphol· April 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
E
ERBB4 exonic deletions on chromosome 2q34 in patients with intellectual disability or epilepsy.
Zerin Hyder, Wim Van Paesschen, Ataf Sabir, Francis H Sansbury, Katherine B Burke

Eur J Hum Genet· September 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
I
Isolated- and Beckwith-Wiedemann syndrome related- lateralised overgrowth (hemihypertrophy): Clinical and molecular correlations in 94 individuals.
Jessica A Radley, Melissa Connolly, Ataf Sabir, Farah Kanani, Helena Carley

Clin Genet· September 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Clinical trials in skeletal dysplasia: a paradigm for treating rare diseases.
Ataf Sabir, Melita Irving

Br Med Bull· September 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
Automated reanalysis, a novel way to diagnose an ultra-rare condition: Fibronectin-1-related spondylometaphyseal dysplasia (SMD-FN1).
Ataf H Sabir, Juhi Singhal, Jessica Man, Nana Ekuntan Mensah, Joo Wook Ahn

Clin Dysmorphol· July 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
K
KIAA0753-related skeletal ciliopathy: a ninth case, extending the phenotype and reporting a novel variant.
Ataf H Sabir, Jameela Sheikh, Vasantha Gowda, Colin Wallis, Surendra Singham

Clin Dysmorphol· July 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
D
Diagnostic yield of rare skeletal dysplasia conditions in the radiogenomics era.
Ataf H Sabir, Elizabeth Morley, Jameela Sheikh, Alistair D Calder, Ana Beleza-Meireles

BMC Med Genomics· June 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
A second report of recessive type COL4A1-related disorder: a novel homozygous missense variant.
Ataf H Sabir, Ananya Singh, George Elley, Evangeline Wassemer, Katharine Foster

Clin Dysmorphol· April 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Cowden syndrome: new clinical features in a large family; joint hyperextensibility, dental abnormalities and gingival enlargement.
Ataf Sabir, Gabriella Parry, Tricia Heaton, Kai Ren Ong

BMJ Case Rep· March 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Chondrodysplasia and growth failure in children after early hematopoietic stem cell transplantation for non-oncologic disorders.
Lorenzo D Botto, Marie Meeths, Belinda Campos-Xavier, Rosalba Bergamaschi, Laura Mazzanti, Ataf Sabir

Am J Med Genet A· February 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
S
SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling.
Yuh-Charn Lin, Marcello Niceta, Valentina Muto, Barbara Vona, Alistair T Pagnamenta, Ataf H Sabir

Am J Hum Genet· January 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis