Publications:

---

Whole-genome analysis of human embryonic stem cells enables rational line selection based on genetic variation.

Cell Stem Cell

Merkle, Florian T FT; Ghosh, Sulagna S; Genovese, Giulio G; Handsaker, Robert E RE; Kashin, Seva S; Meyer, Daniel D; Karczewski, Konrad J KJ; O'Dushlaine, Colm C; Pato, Carlos C; Pato, Michele M; MacArthur, Daniel G DG; McCarroll, Steven A SA; Eggan, Kevin K

Publication Date: 2022-03-03

Variant appearance in text: CACNA1H: 1853C>T; Pro618Leu; rs60734921

PubMed Link: 35176222

Variant Present in the following documents:

• mmc5.xlsx, sheet 1
• mmc5.xlsx, sheet 3

View BVdb publication page

---

Phenotypic profiling with a living biobank of primary rhabdomyosarcoma unravels disease heterogeneity and AKT sensitivity.

Nature Communications

Manzella, Gabriele G; Schreck, Leonie D LD; Breunis, Willemijn B WB; Molenaar, Jan J; Merks, Hans H; Barr, Frederic G FG; Sun, Wenyue W; Römmele, Michaela M; Zhang, Luduo L; Tchinda, Joelle J; Ngo, Quy A QA; Bode, Peter P; Delattre, Olivier O; Surdez, Didier D; Rekhi, Bharat B; Niggli, Felix K FK; Schäfer, Beat W BW; Wachtel, Marco M

Publication Date: 2020-09-15

Variant appearance in text: CACNA1H: P618L

PubMed Link: 32934208

Variant Present in the following documents:

• 41467_2020_Article_18388.pdf

View BVdb publication page

---

CACNA1H variants are not a cause of monogenic epilepsy.

Human Mutation

Calhoun, Jeffrey D JD; Huffman, Alexandra M AM; Bellinski, Irena I; Kinsley, Lisa L; Bachman, Elizabeth E; Gerard, Elizabeth E; Kearney, Jennifer A JA; Carvill, Gemma L GL

Publication Date: 2020-06

Variant appearance in text: CACNA1H: 1853C>T

PubMed Link: 32227660

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Genetic T-type calcium channelopathies.

Journal Of Medical Genetics

Weiss, Norbert N; Zamponi, Gerald W GW

Publication Date: 2020-01

Variant appearance in text: CACNA1H: P618L

PubMed Link: 31217264

Variant Present in the following documents:

• Main text
• jmedgenet-2019-106163.pdf

View BVdb publication page

---

Expanding the Phenotype of Homozygous KCNMA1 Mutations; Dyskinesia, Epilepsy, Intellectual Disability, Cerebellar and Corticospinal Tract Atrophy

Balkan Medical Journal

Yeşil, Gözde G; Aralaşmak, Ayşe A; Akyüz, Enes E; İçağasıoğlu, Dilara D; Uygur Şahin, Türkan T; Bayram, Yavuz Y

Publication Date: 2018-07-24

Variant appearance in text: rs60734921

PubMed Link: 29545233

Variant Present in the following documents:

• Main text
• BMJ-35-336.pdf

View BVdb publication page

---

Ion Channel Genes and Epilepsy: Functional Alteration, Pathogenic Potential, and Mechanism of Epilepsy.

Neuroscience Bulletin

Wei, Feng F; Yan, Li-Min LM; Su, Tao T; He, Na N; Lin, Zhi-Jian ZJ; Wang, Jie J; Shi, Yi-Wu YW; Yi, Yong-Hong YH; Liao, Wei-Ping WP

Publication Date: 2017-08

Variant appearance in text: CACNA1H: P618L

PubMed Link: 28488083

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs60734921

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

---

GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: CACNA1H: P618L

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

View BVdb publication page

---

Integrated analysis of germline and somatic variants in ovarian cancer.

Nature Communications

Kanchi, Krishna L KL; Johnson, Kimberly J KJ; Lu, Charles C; McLellan, Michael D MD; Leiserson, Mark D M MD; Wendl, Michael C MC; Zhang, Qunyuan Q; Koboldt, Daniel C DC; Xie, Mingchao M; Kandoth, Cyriac C; McMichael, Joshua F JF; Wyczalkowski, Matthew A MA; Larson, David E DE; Schmidt, Heather K HK; Miller, Christopher A CA; Fulton, Robert S RS; Spellman, Paul T PT; Mardis, Elaine R ER; Druley, Todd E TE; Graubert, Timothy A TA; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Wilson, Richard K RK; Ding, Li L

Publication Date: 2014

Variant appearance in text: CACNA1H: P618L

PubMed Link: 24448499

Variant Present in the following documents:

• NIHMS551112-supplement-9.xlsx, sheet 1

View BVdb publication page

---