Publications by authors named "Sabir Ataf"

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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A challenging diagnosis of the PIK3CA-related overgrowth spectrum.
Ataf Hussain Sabir, Alessandra Cocca, Moira Cheung, Melita Irving

Clin Dysmorphol· October 2022

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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

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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

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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

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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

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Clinical trials in skeletal dysplasia: a paradigm for treating rare diseases.
Ataf Sabir, Melita Irving

Br Med Bull· September 2021

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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

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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

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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

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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

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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

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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

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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

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