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Author/Creator Sheffer, Ruth

1. Postnatal microcephaly and pain insensitivity due to a de novo heterozygous DNM1L mutation causing impaired mitochondrial fission and function. Issue 6 (17th March 2016)

Authors:
Sheffer, Ruth; Douiev, Liza; Edvardson, Simon; Shaag, Avraham; Tamimi, Khaled; Soiferman, Devorah; Meiner, Vardiella; Saada, Ann
Journal:
American journal of medical genetics
Issue:
Volume 170:Issue 6(2016)
Page Start:
1603
Record Type:
Journal Article
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2. Loss-of-function variants in DNM1 cause a specific form of developmental and epileptic encephalopathy only in biallelic state. Issue 6 (25th June 2021)

Authors:
Yigit, Gökhan; Sheffer, Ruth; Daana, Muhannad; Li, Yun; Kaygusuz, Emrah; Mor-Shakad, Hagar; Altmüller, Janine; Nürnberg, Peter; Douiev, Liza; Kaulfuss, Silke; Burfeind, Peter; Wollnik, Bernd; Brockmann, Knut
Journal:
Journal of medical genetics
Issue:
Volume 59:Issue 6(2022)
Page Start:
549
Record Type:
Journal Article
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3. Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1. Issue 1 (26th October 2019)

Authors:
Koczkowska, Magdalena; Callens, Tom; Chen, Yunjia; Gomes, Alicia; Hicks, Alesha D.; Sharp, Angela; Johns, Eric; Uhas, Kim Armfield; Armstrong, Linlea; Bosanko, Katherine Armstrong; Babovic‐Vuksanovic, Dusica; Baker, Laura; Basel, Donald G.; Bengala, Mario; Bennett, James T.; Chambers, Chelsea; Cl...
Journal:
Human mutation
Issue:
Volume 41:Issue 1(2020)
Page Start:
299
Record Type:
Journal Article
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4. De novo pathogenic DNM1L variant in a patient diagnosed with atypical hereditary sensory and autonomic neuropathy. Issue 10 (1st September 2019)

Authors:
Tarailo‐Graovac, Maja; Zahir, Farah R.; Zivkovic, Irena; Moksa, Michelle; Selby, Kathryn; Sinha, Sunita; Nislow, Corey; Stockler‐Ipsiroglu, Sylvia G.; Sheffer, Ruth; Saada‐Reisch, Ann; Friedman, Jan M.; van Karnebeek, Clara D. M.; Horvath, Gabriella A.
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 7:Issue 10(2019)
Page Start:
n/a
Record Type:
Journal Article
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5. Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability. Issue 5 (28th June 2021)

Authors:
Tan, Natalie B; Pagnamenta, Alistair T; Ferla, Matteo P; Gadian, Jonathan; Chung, Brian HY; Chan, Marcus CY; Fung, Jasmine LF; Cook, Edwin; Guter, Stephen; Boschann, Felix; Heinen, Andre; Schallner, Jens; Mignot, Cyril; Keren, Boris; Whalen, Sandra; Sarret, Catherine; Mittag, Dana; Demmer, Laurie...
Journal:
Journal of medical genetics
Issue:
Volume 59:Issue 5(2022)
Page Start:
511
Record Type:
Journal Article
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