Publications:

---

Mutations, Genes, and Phenotypes Related to Movement Disorders and Ataxias.

International Journal Of Molecular Sciences

Martínez-Rubio, Dolores D; Hinarejos, Isabel I; Sancho, Paula P; Gorría-Redondo, Nerea N; Bernadó-Fonz, Raquel R; Tello, Cristina C; Marco-Marín, Clara C; Martí-Carrera, Itxaso I; Martínez-González, María Jesús MJ; García-Ribes, Ainhoa A; Baviera-Muñoz, Raquel R; Sastre-Bataller, Isabel I; Martínez-Torres, Irene I; Duat-Rodríguez, Anna A; Janeiro, Patrícia P; Moreno, Esther E; Pías-Peleteiro, Leticia L; Gordo, Mar O'Callaghan MO; Ruiz-Gómez, Ángeles Á; Muñoz, Esteban E; Martí, Maria Josep MJ; Sánchez-Monteagudo, Ana A; Fuster, Candela C; Andrés-Bordería, Amparo A; Pons, Roser Maria RM; Jesús-Maestre, Silvia S; Mir, Pablo P; Lupo, Vincenzo V; Pérez-Dueñas, Belén B; Darling, Alejandra A; Aguilera-Albesa, Sergio S; Espinós, Carmen C

Publication Date: 2022-10-06

Variant appearance in text: SACS: N4573H; rs34382952

PubMed Link: 36233161

Variant Present in the following documents:

• Main text
• ijms-23-11847.pdf

View BVdb publication page

---

Molecular networks of hepatoblastoma predisposition and oncogenesis in Beckwith-Wiedemann syndrome.

Hepatology Communications

Sobel Naveh, Natali S NS; Traxler, Emily M EM; Duffy, Kelly A KA; Kalish, Jennifer M JM

Publication Date: 2022-08

Variant appearance in text: SACS: N4573H; rs34382952

PubMed Link: 35507738

Variant Present in the following documents:

• HEP4-6-2132-s005.xlsx, sheet 1

View BVdb publication page

---

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: SACS: N4573H

PubMed Link: 35136070

Variant Present in the following documents:

• 41467_2022_28411_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

---

Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience

Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD

Publication Date: 2022-02

Variant appearance in text: SACS: N4573H; rs34382952

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9

View BVdb publication page

---

Genetics of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) and Role of Sacsin in Neurodegeneration.

International Journal Of Molecular Sciences

Bagaria, Jaya J; Bagyinszky, Eva E; An, Seong Soo A SSA

Publication Date: 2022-01-04

Variant appearance in text: SACS: N4573H

PubMed Link: 35008978

Variant Present in the following documents:

• Main text
• ijms-23-00552.pdf

View BVdb publication page

---

Genetics of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) and Role of Sacsin in Neurodegeneration.

International Journal Of Molecular Sciences

Bagaria, Jaya J; Bagyinszky, Eva E; An, Seong Soo A SSA

Publication Date: 2022-01-04

Variant appearance in text: SACS: N4573H

PubMed Link: 35008978

Variant Present in the following documents:

• Main text
• ijms-23-00552.pdf

View BVdb publication page

---

Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias.

European Journal Of Human Genetics : Ejhg

Morais, Sara S; Raymond, Laure L; Mairey, Mathilde M; Coutinho, Paula P; Brandão, Eva E; Ribeiro, Paula P; Loureiro, José Leal JL; Sequeiros, Jorge J; Brice, Alexis A; Alonso, Isabel I; Stevanin, Giovanni G

Publication Date: 2017-11

Variant appearance in text: SACS: Asn4573His

PubMed Link: 28832565

Variant Present in the following documents:

• Main text
• ejhg2017124a.pdf

View BVdb publication page

---

Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: SACS: 13717A>C; Asn4573His

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

---

Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Nature Communications

Cereda, Matteo M; Gambardella, Gennaro G; Benedetti, Lorena L; Iannelli, Fabio F; Patel, Dominic D; Basso, Gianluca G; Guerra, Rosalinda F RF; Mourikis, Thanos P TP; Puccio, Ignazio I; Sinha, Shruti S; Laghi, Luigi L; Spencer, Jo J; Rodriguez-Justo, Manuel M; Ciccarelli, Francesca D FD

Publication Date: 2016-07-05

Variant appearance in text: SACS: N4573H

PubMed Link: 27377421

Variant Present in the following documents:

• ncomms12072-s6.xlsx, sheet 1

View BVdb publication page

---

XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.

Plos One

Talukder, Asoke K AK; Ravishankar, Shashidhar S; Sasmal, Krittika K; Gandham, Santhosh S; Prabhukumar, Jyothsna J; Achutharao, Prahalad H PH; Barh, Debmalya D; Blasi, Francesco F

Publication Date: 2015

Variant appearance in text: SACS: N4573H; rs34382952

PubMed Link: 25905921

Variant Present in the following documents:

• pone.0123569.s008.xls, sheet 1

View BVdb publication page

---

A G613A missense in the Hutchinson's progeria lamin A/C gene causes a lone, autosomal dominant atrioventricular block.

Immunity & Ageing : I & A

Villa, Francesco F; Maciąg, Anna A; Spinelli, Chiara C CC; Ferrario, Anna A; Carrizzo, Albino A; Parisi, Attilio A; Torella, Annalaura A; Montenero, Chiara C; Condorelli, Gianluigi G; Vecchione, Carmine C; Nigro, Vincenzo V; Montenero, Annibale S AS; Puca, Annibale A AA

Publication Date: 2014

Variant appearance in text: SACS: N4573H; rs34382952

PubMed Link: 25469153

Variant Present in the following documents:

• 12979_2014_19_MOESM2_ESM.xls, sheet 1

View BVdb publication page

---

A probabilistic model to predict clinical phenotypic traits from genome sequencing.

Plos Computational Biology

Chen, Yun-Ching YC; Douville, Christopher C; Wang, Cheng C; Niknafs, Noushin N; Yeo, Grace G; Beleva-Guthrie, Violeta V; Carter, Hannah H; Stenson, Peter D PD; Cooper, David N DN; Li, Biao B; Mooney, Sean S; Karchin, Rachel R

Publication Date: 2014-09

Variant appearance in text: SACS: N4573H

PubMed Link: 25188385

Variant Present in the following documents:

• pcbi.1003825.s014.xlsx, sheet 1

View BVdb publication page

---

Comparative analysis and functional mapping of SACS mutations reveal novel insights into sacsin repeated architecture.

Human Mutation

Romano, Alessandro A; Tessa, Alessandra A; Barca, Amilcare A; Fattori, Fabiana F; de Leva, Maria Fulvia MF; Terracciano, Alessandra A; Storelli, Carlo C; Santorelli, Filippo Maria FM; Verri, Tiziano T

Publication Date: 2013-03

Variant appearance in text: SACS: 13717A>C; rs34382952

PubMed Link: 23280630

Variant Present in the following documents:

• humu0034-0525-SD1.pdf

View BVdb publication page

---

Mutations in rare ataxia genes are uncommon causes of sporadic cerebellar ataxia.

Movement Disorders : Official Journal Of The Movement Disorder Society

Fogel, Brent L BL; Lee, Ji Yong JY; Lane, Jessica J; Wahnich, Amanda A; Chan, Sandy S; Huang, Alden A; Osborn, Greg E GE; Klein, Eric E; Mamah, Catherine C; Perlman, Susan S; Geschwind, Daniel H DH; Coppola, Giovanni G

Publication Date: 2012-03

Variant appearance in text: SACS: N4573H; rs34382952

PubMed Link: 22287014

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Design and validation of a conformation sensitive capillary electrophoresis-based mutation scanning system and automated data analysis of the more than 15 kbp-spanning coding sequence of the SACS gene.

The Journal Of Molecular Diagnostics : Jmd

Vermeer, Sascha S; Meijer, Rowdy P P RP; Hofste, Tom G J TG; Bodmer, Daniëlle D; Bosgoed, Ermanno A J EA; Cremers, Frans P M FP; Kremer, Berry H P BH; Knoers, Nine V A M NV; Scheffer, Hans H

Publication Date: 2009-11

Variant appearance in text: SACS: 13717A>C

PubMed Link: 19779133

Variant Present in the following documents:

• Main text

View BVdb publication page

---