Publications by authors named "Ruth Sheffer"

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Loss-of-function variants in cause a specific form of developmental and epileptic encephalopathy only in biallelic state.
Gökhan Yigit, Ruth Sheffer, Muhannad Daana, Yun Li, Emrah Kaygusuz

J Med Genet· June 2022

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Recurrent missense variants in can cause syndromic intellectual disability.
Natalie B Tan, Alistair T Pagnamenta, Matteo P Ferla, Jonathan Gadian, Brian Hy Chung, Ruth Sheffer

J Med Genet· May 2022

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Relatively mild blue cone monochromacy phenotype caused by various haplotypes in the L- and M-cone opsin genes.
Samer Khateb, Aya Shemesh, Ashly Offenheim, Ruth Sheffer, Tamar Ben-Yosef

Mol Vis· April 2022

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Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder.
Sébastien Küry, Frédéric Ebstein, Alice Mollé, Thomas Besnard, Ming-Kang Lee, Ruth Sheffer

Am J Hum Genet· February 2022

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Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1.
Magdalena Koczkowska, Tom Callens, Yunjia Chen, Alicia Gomes, Alesha D Hicks, Ruth Sheffer

Hum Mutat· January 2020

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Bezafibrate Improves Mitochondrial Fission and Function in DNM1L-Deficient Patient Cells.
Liza Douiev, Ruth Sheffer, Gabriella Horvath, Ann Saada

Cells· January 2020

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De novo pathogenic DNM1L variant in a patient diagnosed with atypical hereditary sensory and autonomic neuropathy.
Maja Tarailo-Graovac, Farah R Zahir, Irena Zivkovic, Michelle Moksa, Kathryn Selby, Ruth Sheffer

Mol Genet Genomic Med· October 2019

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Biallelic variants in AGTPBP1, involved in tubulin deglutamylation, are associated with cerebellar degeneration and motor neuropathy.
Ruth Sheffer, Michal Gur, Rebecca Brooks, Somaya Salah, Muhannad Daana

Eur J Hum Genet· September 2019

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TRPM1 Mutations are the Most Common Cause of Autosomal Recessive Congenital Stationary Night Blindness (CSNB) in the Palestinian and Israeli Populations.
Alaa AlTalbishi, Lina Zelinger, Christina Zeitz, Karen Hendler, Prasanthi Namburi, Ruth Sheffer

Sci Rep· August 2019

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Role of a conserved glutamine in the function of voltage-gated Ca channels revealed by a mutation in human .
Edgar Garza-Lopez, Josue A Lopez, Jussara Hagen, Ruth Sheffer, Vardiella Meiner

J Biol Chem· September 2018

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Postnatal microcephaly and pain insensitivity due to a de novo heterozygous DNM1L mutation causing impaired mitochondrial fission and function.
Ruth Sheffer, Liza Douiev, Simon Edvardson, Avraham Shaag, Khaled Tamimi

Am J Med Genet A· June 2016

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Fe/S protein assembly gene IBA57 mutation causes hereditary spastic paraplegia.
Alexander Lossos, Claudia Stümpfig, Giovanni Stevanin, Marion Gaussen, Bat-El Zimmerman, Ruth Sheffer

Neurology· February 2015

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Hindbrain malformation and myoclonic seizures associated with a deleterious mutation in the INPP4A gene.
Ruth Sheffer, Odeya Bennett-Back, Barak Yaacov, Simon Edvardson, Moshe Gomori

Neurogenetics· January 2015

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Semidominant inheritance in epidermolytic ichthyosis.
Janna Nousbeck, Gilly Padalon-Brauch, Dana Fuchs-Telem, Shirli Israeli, Ofer Sarig, Ruth Sheffer

J Invest Dermatol· November 2013

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KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations.
Stephan Klebe, Alexander Lossos, Hamid Azzedine, Emeline Mundwiller, Ruth Sheffer

Eur J Hum Genet· June 2012

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Early-onset sensorineural hearing loss is a prominent feature of H syndrome.
Yuval Ramot, Koji Sayama, Ruth Sheffer, Victoria Doviner, Nurith Hiller

Int J Pediatr Otorhinolaryngol· July 2010

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Increased risk for developmental delay in Saethre-Chotzen syndrome is associated with TWIST deletions: an improved strategy for TWIST mutation screening.
Juanliang Cai, Barbara K Goodman, Ankita S Patel, John B Mulliken, Lionel Van Maldergem, Ruth Sheffer

Hum Genet· December 2003

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