Publications by authors named "Shehla Mohammed"

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XP-J, a ninth xeroderma pigmentosum complementation group, results from mutations in GTF2H4, encoding TFIIH-p52 subunit.
Hiva Fassihi, Shehla Mohammed, Yuka Nakazawa, Heather Fawcett, Sally Turner

J Clin Invest· November 2025

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TFIIH-p52ΔC defines a ninth xeroderma pigmentosum complementation-group XP-J and restores TFIIH stability to p8-defective trichothiodystrophy.
Yuka Nakazawa, Lin Ye, Yasuyoshi Oka, Hironobu Morinaga, Kana Kato, Shehla Mohammed

J Clin Invest· November 2025

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Clinical and molecular overlap between nucleotide excision repair (NER) disorders and haploinsufficiency syndrome.
Nicolas Le May, Jérémie Courraud, Imène Boujelbène, Cathy Obringer, Tomoo Ogi, Shehla Mohammed

Front Neurosci· March 2025

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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, Shehla Mohammed

Genet Med Open· October 2024

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Cognitive Decline and Other Late-Stage Neurologic Complications in Cockayne Syndrome.
Geetanjali Rajamani, Seth A Stafki, Audrey L Daugherty, William G Mantyh, Hannah R Littel, Shehla Mohammed

Neurol Clin Pract· August 2024

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Neurological disease in xeroderma pigmentosum: prospective cohort study of its features and progression.
Hector Garcia-Moreno, Douglas R Langbehn, Adesoji Abiona, Isabel Garrood, Zofia Fleszar, Shehla Mohammed

Brain· December 2023

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Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders.
Carolina Gracia-Diaz, Yijing Zhou, Qian Yang, Reza Maroofian, Paula Espana-Bonilla, Shehla Mohammed

Nat Commun· July 2023

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PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production.
Frédéric Ebstein, Sébastien Küry, Victoria Most, Cory Rosenfelt, Marie-Pier Scott-Boyer, Shehla Mohammed

Sci Transl Med· May 2023

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The Spectrum of MORC2-Related Disorders: A Potential Link to Cockayne Syndrome.
Seth A Stafki, Johnnie Turner, Hannah R Littel, Christine C Bruels, Don Truong, Shehla Mohammed

Pediatr Neurol· April 2023

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Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus.
Mary R Sy, Jaynee Chauhan, Katrina Prescott, Aliza Imam, Alison Kraus, Shehla Mohammed

Am J Med Genet A· December 2022

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Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome.
Marjolein J A Weerts, Kristina Lanko, Francisco J Guzmán-Vega, Adam Jackson, Reshmi Ramakrishnan, Shehla Mohammed

Genet Med· November 2021

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100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.

N Engl J Med· November 2021

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Generation of an iPSC line (CRICKi001-A) from an individual with a germline SMARCA4 missense mutation and autism spectrum disorder.
Liani G Devito, Lyn Healy, Shehla Mohammed, Francois Guillemot, Cristina Dias

Stem Cell Res· May 2021

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Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction.
Joery den Hoed, Elke de Boer, Norine Voisin, Alexander J M Dingemans, Nicolas Guex, Shehla Mohammed

Am J Hum Genet· February 2021

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Growth charts in Cockayne syndrome type 1 and type 2.
Sarah Baer, Nicolas Tuzin, Peter B Kang, Shehla Mohammed, Masaya Kubota

Eur J Med Genet· January 2021

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Missense variants in TAF1 and developmental phenotypes: challenges of determining pathogenicity.
Hanyin Cheng, Simona Capponi, Emma Wakeling, Elaine Marchi, Quan Li, Shehla Mohammed

Hum Mutat· October 2019

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Correction: Arterial tortuosity syndrome: 40 new families and literature review.
Aude Beyens, Juliette Albuisson, Annekatrien Boel, Mazen Al-Essa, Waheed Al-Manea, Mohammed Z Haider, Shehla Mohammed, Mohammed Z Seidahmed

Genet Med· August 2019

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Recessive MYH7-related myopathy in two families.
Sarah J Beecroft, Martijn van de Locht, Josine M de Winter, Coen A Ottenheijm, Caroline A Sewry, Shehla Mohammed

Neuromuscul Disord· June 2019

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Specific combinations of biallelic variants cause Wiedemann-Rautenstrauch syndrome.
Stefano Paolacci, Yun Li, Emanuele Agolini, Emanuele Bellacchio, Carlos E Arboleda-Bustos, Shehla Mohammed

J Med Genet· December 2018

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Corrigendum to "Childhood-onset generalized epilepsy in Bainbridge-Ropers syndrome" [Epilepsy Res. 140 (2018) 166-170].
Kenneth A Myers, Susan M White, Shehla Mohammed, Kay A Metcalfe, Andrew E Fry

Epilepsy Res· November 2018

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Arterial tortuosity syndrome: 40 new families and literature review.
Aude Beyens, Juliette Albuisson, Annekatrien Boel, Mazen Al-Essa, Waheed Al-Manea, Mohammed Z Haider, Shehla Mohammed, Mohammed Z Seidahmed

Genet Med· October 2018

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Mutations That Alter the Carboxy-Terminal-Propeptide Cleavage Site of the Chains of Type I Procollagen Are Associated With a Unique Osteogenesis Imperfecta Phenotype.
Tim Cundy, Michael Dray, John Delahunt, Jannie Dahl Hald, Bente Langdahl, Shehla Mohammed

J Bone Miner Res· July 2018

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The Endocrine and Metabolic Characteristics of a Large Bardet-Biedl Syndrome Clinic Population.
Safa Mujahid, Katharine F Hunt, Yee S Cheah, Elizabeth Forsythe, Jonathan M Hazlehurst, Shehla Mohammed, Mohammed S B Huda

J Clin Endocrinol Metab· May 2018

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Childhood-onset generalized epilepsy in Bainbridge-Ropers syndrome.
Kenneth A Myers, Susan M White, Shehla Mohammed, Kay A Metcalfe, Andrew E Fry

Epilepsy Res· February 2018

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RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes.
Margot R F Reijnders, Nurhuda M Ansor, Maria Kousi, Wyatt W Yue, Perciliz L Tan, Shehla Mohammed

Am J Hum Genet· September 2017

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