Publications:

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Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome.

Human Genetics

Tollefson, Mallory R MR; Gogal, Rose A RA; Weaver, A Monique AM; Schaefer, Amanda M AM; Marini, Robert J RJ; Azaiez, Hela H; Kolbe, Diana L DL; Wang, Donghong D; Weaver, Amy E AE; Casavant, Thomas L TL; Braun, Terry A TA; Smith, Richard J H RJH; Schnieders, Michael J MJ

Publication Date: 2023-04-22

Variant appearance in text: KCNJ10: 1043G>A; Arg348His

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

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Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.

Nature

Mensah, Martin A MA; Niskanen, Henri H; Magalhaes, Alexandre P AP; Basu, Shaon S; Kircher, Martin M; Sczakiel, Henrike L HL; Reiter, Alisa M V AMV; Elsner, Jonas J; Meinecke, Peter P; Biskup, Saskia S; Chung, Brian H Y BHY; Dombrowsky, Gregor G; Eckmann-Scholz, Christel C; Hitz, Marc Phillip MP; Hoischen, Alexander A; Holterhus, Paul-Martin PM; Hülsemann, Wiebke W; Kahrizi, Kimia K; Kalscheuer, Vera M VM; Kan, Anita A; Krumbiegel, Mandy M; Kurth, Ingo I; Leubner, Jonas J; Longardt, Ann Carolin AC; Moritz, Jörg D JD; Najmabadi, Hossein H; Skipalova, Karolina K; Snijders Blok, Lot L; Tzschach, Andreas A; Wiedersberg, Eberhard E; Zenker, Martin M; Garcia-Cabau, Carla C; Buschow, René R; Salvatella, Xavier X; Kraushar, Matthew L ML; Mundlos, Stefan S; Caliebe, Almuth A; Spielmann, Malte M; Horn, Denise D; Hnisz, Denes D

Publication Date: 2023-02-08

Variant appearance in text: KCNJ10: 1043G>A; Arg348His; rs146396982

PubMed Link: 36755093

Variant Present in the following documents:

• 41586_2022_5682_MOESM7_ESM.xlsx, sheet 1

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Perspectives on the basis of seizure-induced respiratory dysfunction.

Frontiers In Neural Circuits

Mulkey, Daniel K DK; Milla, Brenda M BM

Publication Date: 2022

Variant appearance in text: KCNJ10: R348H

PubMed Link: 36605420

Variant Present in the following documents:

• Main text
• fncir-16-1033756.pdf

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Integrated gene analyses of de novo variants from 46,612 trios with autism and developmental disorders.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Wang, Tianyun T; Kim, Chang N CN; Bakken, Trygve E TE; Gillentine, Madelyn A MA; Henning, Barbara B; Mao, Yafei Y; Gilissen, Christian C; , ; Nowakowski, Tomasz J TJ; Eichler, Evan E EE

Publication Date: 2022-11-15

Variant appearance in text: KCNJ10: 1043G>A; Arg348His

PubMed Link: 36350923

Variant Present in the following documents:

• pnas.2203491119.sd01.xlsx, sheet 1

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Calcium and activity-dependent signaling in the developing cerebral cortex.

Development (Cambridge, England)

Arjun McKinney, Arpana A; Petrova, Ralitsa R; Panagiotakos, Georgia G

Publication Date: 2022-09-01

Variant appearance in text: KCNJ10: R348H

PubMed Link: 36102617

Variant Present in the following documents:

• develop-149-198853-s1.pdf

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EAST/SeSAME Syndrome and Beyond: The Spectrum of Kir4.1- and Kir5.1-Associated Channelopathies.

Frontiers In Physiology

Lo, Jacky J; Forst, Anna-Lena AL; Warth, Richard R; Zdebik, Anselm A AA

Publication Date: 2022

Variant appearance in text: Kir4.1: R348H

PubMed Link: 35370765

Variant Present in the following documents:

• Main text
• fphys-13-852674.pdf

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SMAP is a pipeline for sample matching in proteogenomics.

Nature Communications

Li, Ling L; Niu, Mingming M; Erickson, Alyssa A; Luo, Jie J; Rowbotham, Kincaid K; Guo, Kai K; Huang, He H; Li, Yuxin Y; Jiang, Yi Y; Hur, Junguk J; Liu, Chunyu C; Peng, Junmin J; Wang, Xusheng X

Publication Date: 2022-02-08

Variant appearance in text: KCNJ10: R348H

PubMed Link: 35136070

Variant Present in the following documents:

• 41467_2022_28411_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Role of Astrocytic Inwardly Rectifying Potassium (Kir) 4.1 Channels in Epileptogenesis.

Frontiers In Neurology

Kinboshi, Masato M; Ikeda, Akio A; Ohno, Yukihiro Y

Publication Date: 2020

Variant appearance in text: KCNJ10: R348H

PubMed Link: 33424762

Variant Present in the following documents:

• Main text
• fneur-11-626658.pdf

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Electrophysiological features of sleep in children with Kir4.1 channel mutations and Autism-Epilepsy phenotype: a preliminary study.

Sleep

Cucchiara, Federico F; Frumento, Paolo P; Banfi, Tommaso T; Sesso, Gianluca G; Di Galante, Marco M; D'Ascanio, Paola P; Valvo, Giulia G; Sicca, Federico F; Faraguna, Ugo U

Publication Date: 2020-04-15

Variant appearance in text: KCNJ10: R348H

PubMed Link: 31722434

Variant Present in the following documents:

• Main text
• zsz255.pdf

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Possible precision medicine implications from genetic testing using combined detection of sequence and intragenic copy number variants in a large cohort with childhood epilepsy.

Epilepsia Open

Truty, Rebecca R; Patil, Nila N; Sankar, Raman R; Sullivan, Joseph J; Millichap, John J; Carvill, Gemma G; Entezam, Ali A; Esplin, Edward D ED; Fuller, Amy A; Hogue, Michelle M; Johnson, Britt B; Khouzam, Amirah A; Kobayashi, Yuya Y; Lewis, Rachel R; Nykamp, Keith K; Riethmaier, Darlene D; Westbrook, Jody J; Zeman, Michelle M; Nussbaum, Robert L RL; Aradhya, Swaroop S

Publication Date: 2019-09

Variant appearance in text: KCNJ10: 1043G>A; Arg348His

PubMed Link: 31440721

Variant Present in the following documents:

• EPI4-4-397-s003.xlsx, sheet 1

View BVdb publication page

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Evolving neoantigen profiles in colorectal cancers with DNA repair defects.

Genome Medicine

Rospo, Giuseppe G; Lorenzato, Annalisa A; Amirouchene-Angelozzi, Nabil N; Magrì, Alessandro A; Cancelliere, Carlotta C; Corti, Giorgio G; Negrino, Carola C; Amodio, Vito V; Montone, Monica M; Bartolini, Alice A; Barault, Ludovic L; Novara, Luca L; Isella, Claudio C; Medico, Enzo E; Bertotti, Andrea A; Trusolino, Livio L; Germano, Giovanni G; Di Nicolantonio, Federica F; Bardelli, Alberto A

Publication Date: 2019-06-28

Variant appearance in text: KCNJ10: R348H

PubMed Link: 31253177

Variant Present in the following documents:

• 13073_2019_654_MOESM2_ESM.xlsx, sheet 21

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Identifying Extrinsic versus Intrinsic Drivers of Variation in Cell Behavior in Human iPSC Lines from Healthy Donors.

Cell Reports

Vigilante, Alessandra A; Laddach, Anna A; Moens, Nathalie N; Meleckyte, Ruta R; Leha, Andreas A; Ghahramani, Arsham A; Culley, Oliver J OJ; Kathuria, Annie A; Hurling, Chloe C; Vickers, Alice A; Wiseman, Erika E; Tewary, Mukul M; Zandstra, Peter W PW; , ; Durbin, Richard R; Fraternali, Franca F; Stegle, Oliver O; Birney, Ewan E; Luscombe, Nicholas M NM; Danovi, Davide D; Watt, Fiona M FM

Publication Date: 2019-02-19

Variant appearance in text: KCNJ10: R348H

PubMed Link: 30784590

Variant Present in the following documents:

• mmc6.xlsx, sheet 2
• mmc6.xlsx, sheet 1

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Potassium Channel Gain of Function in Epilepsy: An Unresolved Paradox.

The Neuroscientist : A Review Journal Bringing Neurobiology, Neurology And Psychiatry

Niday, Zachary Z; Tzingounis, Anastasios V AV

Publication Date: 2018-08

Variant appearance in text: Kir4.1: R348H

PubMed Link: 29542386

Variant Present in the following documents:

• Main text

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De novo and inherited SCN8A epilepsy mutations detected by gene panel analysis.

Epilepsy Research

Butler, Kameryn M KM; da Silva, Cristina C; Shafir, Yuval Y; Weisfeld-Adams, James D JD; Alexander, John J JJ; Hegde, Madhuri M; Escayg, Andrew A

Publication Date: 2017-01

Variant appearance in text: KCNJ10: 1043G>A; R348H

PubMed Link: 27875746

Variant Present in the following documents:

• Main text

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Gain-of-function defects of astrocytic Kir4.1 channels in children with autism spectrum disorders and epilepsy.

Scientific Reports

Sicca, Federico F; Ambrosini, Elena E; Marchese, Maria M; Sforna, Luigi L; Servettini, Ilenio I; Valvo, Giulia G; Brignone, Maria Stefania MS; Lanciotti, Angela A; Moro, Francesca F; Grottesi, Alessandro A; Catacuzzeno, Luigi L; Baldini, Sara S; Hasan, Sonia S; D'Adamo, Maria Cristina MC; Franciolini, Fabio F; Molinari, Paola P; Santorelli, Filippo M FM; Pessia, Mauro M

Publication Date: 2016-09-28

Variant appearance in text: KCNJ10: 1043G>A; rs146396982

PubMed Link: 27677466

Variant Present in the following documents:

• Main text
• srep34325-s1.pdf
• srep34325.pdf

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NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One

Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y

Publication Date: 2014

Variant appearance in text: rs146396982

PubMed Link: 25032700

Variant Present in the following documents:

• pone.0101670.s004.xlsx, sheet 1

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Whole genome SNP genotyping and exome sequencing reveal novel genetic variants and putative causative genes in congenital hyperinsulinism.

Plos One

Proverbio, Maria Carla MC; Mangano, Eleonora E; Gessi, Alessandra A; Bordoni, Roberta R; Spinelli, Roberta R; Asselta, Rosanna R; Valin, Paola Sogno PS; Di Candia, Stefania S; Zamproni, Ilaria I; Diceglie, Cecilia C; Mora, Stefano S; Caruso-Nicoletti, Manuela M; Salvatoni, Alessandro A; De Bellis, Gianluca G; Battaglia, Cristina C

Publication Date: 2013

Variant appearance in text: KCNJ10: R348H

PubMed Link: 23869231

Variant Present in the following documents:

• Main text
• pone.0068740.pdf

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