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Author/Creator Huether, Robert

1. A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxia. Issue 4 (9th September 2016)

Authors:
Helbig, Katherine L.; Hedrich, Ulrike B.S.; Shinde, Deepali N.; Krey, Ilona; Teichmann, Anne‐Christin; Hentschel, Julia; Schubert, Julian; Chamberlin, Adam C.; Huether, Robert; Lu, Hsiao‐Mei; Alcaraz, Wendy A.; Tang, Sha; Jungbluth, Chelsy; Dugan, Sarah L.; Vainionpää, Leena; Karle, Kathrin N.; S...
Journal:
Annals of neurology
Issue:
Volume 80:Issue 4(2016:Oct.)
Page Start:
n/a
Record Type:
Journal Article
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2. Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic‐dyskinetic encephalopathy. Issue 7 (6th April 2020)

Authors:
Carvill, Gemma L.; Helbig, Katherine L.; Myers, Candace T.; Scala, Marcello; Huether, Robert; Lewis, Sara; Kruer, Tyler N.; Guida, Brandon S.; Bakhtiari, Somayeh; Sebe, Joy; Tang, Sha; Stickney, Heather; Oktay, Sehribani Ulusoy; Bhandiwad, Ashwin A.; Ramsey, Keri; Narayanan, Vinodh; Feyma, Timoth...
Journal:
Human mutation
Issue:
Volume 41:Issue 7(2020)
Page Start:
1263
Record Type:
Journal Article
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4. DNM1 encephalopathy: A new disease of vesicle fission. (25th July 2017)

Authors:
von Spiczak, Sarah; Helbig, Katherine L.; Shinde, Deepali N.; Huether, Robert; Pendziwiat, Manuela; Lourenço, Charles; Nunes, Mark E.; Sarco, Dean P.; Kaplan, Richard A.; Dlugos, Dennis J.; Kirsch, Heidi; Slavotinek, Anne; Cilio, Maria R.; Cervenka, Mackenzie C.; Cohen, Julie S.; McClellan, Rebec...
Journal:
Neurology
Issue:
Volume 89:Number 4(2017)
Page Start:
Record Type:
Journal Article
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6. Gene‐specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN Expert Panel. Issue 11 (11th October 2018)

Authors:
Mester, Jessica L.; Ghosh, Rajarshi; Pesaran, Tina; Huether, Robert; Karam, Rachid; Hruska, Kathleen S.; Costa, Helio A.; Lachlan, Katherine; Ngeow, Joanne; Barnholtz‐Sloan, Jill; Sesock, Kaitlin; Hernandez, Felicia; Zhang, Liying; Milko, Laura; Plon, Sharon E.; Hegde, Madhuri; Eng, Charis
Other Names:
Rehm Heidi L. guestEditor.; Berg Jonathan S. guestEditor.; Plon Sharon E. guestEditor.
Journal:
Human mutation
Issue:
Volume 39:Issue 11(2018)
Page Start:
1581
Record Type:
Journal Article
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7. Germline activating MTOR mutation arising through gonadal mosaicism in two brothers with megalencephaly and neurodevelopmental abnormalities. Issue 1 (December 2015)

Authors:
Mroske, Cameron; Rasmussen, Kristen; Shinde, Deepali; Huether, Robert; Powis, Zoe; Lu, Hsiao-Mei; Baxter, Ruth; McPherson, Elizabeth; Tang, Sha
Journal:
BMC medical genetics
Issue:
Volume 16:Issue 1(2015)
Page Start:
1
Record Type:
Journal Article
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8. Inherited cancer predisposing mutations in patients with therapy‐related myeloid neoplasms. (9th November 2022)

Authors:
Shih, Andrew J.; Jun, Tomi; Skol, Andrew D.; Bao, Riyue; Huang, Lei; Vora, Sapana; McNerney, Megan E.; Hungate, Eric A.; Le Beau, Michelle M.; Larson, Richard A.; Elliott, Aaron; Lu, Hsiao‐Mei; Huether, Robert; Hernandez, Felicia; Stölzel, Friedrich; Allan, James M.; Onel, Kenan
Journal:
British journal of haematology
Issue:
Volume 200:Number 4(2023)
Page Start:
489
Record Type:
Journal Article
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9. Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants. Issue 3 (25th December 2020)

Authors:
Fortuno, Cristina; Lee, Kristy; Olivier, Magali; Pesaran, Tina; Mai, Phuong L.; de Andrade, Kelvin C.; Attardi, Laura D.; Crowley, Stephanie; Evans, D. Gareth; Feng, Bing‐Jian; Foreman, Ann K. M.; Frone, Megan N.; Huether, Robert; James, Paul A.; McGoldrick, Kelly; Mester, Jessica; Seifert, Bryce...
Journal:
Human mutation
Issue:
Volume 42:Issue 3(2021)
Page Start:
223
Record Type:
Journal Article
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