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Molecular and cellular events linking variants in the histone demethylase KDM5C to the intellectual disability disorder Claes‐Jensen syndrome
Molecular and cellular events linking variants in the histone demethylase KDM5C to the intellectual disability disorder Claes‐Jensen syndrome
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Molecular and cellular events linking variants in the histone demethylase KDM5C to the intellectual disability disorder Claes‐Jensen syndrome

Hatch, Hayden A. M. ; Secombe, Julie

The FEBS journal, 2022-12, Vol.289 (24), p.7776-7787 [Periódico revisado por pares]

England: Blackwell Publishing Ltd

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2
Further delineation of the female phenotype with KDM5C disease causing variants: 19 new individuals and review of the literature
Further delineation of the female phenotype with KDM5C disease causing variants: 19 new individuals and review of the literature
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Further delineation of the female phenotype with KDM5C disease causing variants: 19 new individuals and review of the literature

Carmignac, Virginie ; Nambot, Sophie ; Lehalle, Daphné ; Callier, Patrick ; Moortgat, Stephanie ; Benoit, Valérie ; Ghoumid, Jamal ; Delobel, Bruno ; Smol, Thomas ; Thuillier, Caroline ; Zordan, Cécile ; Naudion, Sophie ; Bienvenu, Thierry ; Touraine, Renaud ; Ramond, Francis ; Zweier, Christiane ; Reis, André ; Kraus, Cornelia ; Nizon, Mathilde ; Cogné, Benjamin ; Verloes, Alain ; Tran Mau‐Them, Frédéric ; Sorlin, Arthur ; Jouan, Thibaud ; Duffourd, Yannis ; Tisserant, Emilie ; Philippe, Christophe ; Vitobello, Antonio ; Thevenon, Julien ; Faivre, Laurence ; Thauvin‐Robinet, Christel

Clinical genetics, 2020-07, Vol.98 (1), p.43-55 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

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3
Caregiver‐reported characteristics of children diagnosed with pathogenic variants in KDM5C
Caregiver‐reported characteristics of children diagnosed with pathogenic variants in KDM5C
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Caregiver‐reported characteristics of children diagnosed with pathogenic variants in KDM5C

Hatch, Hayden A. M. ; O'Neil, Molly H. ; Marion, Robert W. ; Secombe, Julie ; Shulman, Lisa H.

American journal of medical genetics. Part A, 2021-10, Vol.185 (10), p.2951-2958 [Periódico revisado por pares]

Hoboken, USA: John Wiley & Sons, Inc

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4
Different X-linked KDM5C mutations in affected male siblings: is maternal reversion error involved?
Different X-linked KDM5C mutations in affected male siblings: is maternal reversion error involved?
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Different X-linked KDM5C mutations in affected male siblings: is maternal reversion error involved?

Fujita, A. ; Waga, C. ; Hachiya, Y. ; Kurihara, E. ; Kumada, S. ; Takeshita, E. ; Nakagawa, E. ; Inoue, K. ; Miyatake, S. ; Tsurusaki, Y. ; Nakashima, M. ; Saitsu, H. ; Goto, Y.-i. ; Miyake, N. ; Matsumoto, N.

Clinical genetics, 2016-09, Vol.90 (3), p.276-281 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

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5
Cofactors-loaded quaternary structure of lysine-specific demethylase 5C (KDM5C) protein: Computational model
Cofactors-loaded quaternary structure of lysine-specific demethylase 5C (KDM5C) protein: Computational model
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Cofactors-loaded quaternary structure of lysine-specific demethylase 5C (KDM5C) protein: Computational model

Peng, Yunhui ; Alexov, Emil

Proteins, structure, function, and bioinformatics, 2016-12, Vol.84 (12), p.1797-1809 [Periódico revisado por pares]

United States: Blackwell Publishing Ltd

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