Publications:

---

Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: GAA: 1496G>A; Trp499Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

---

The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine

Xiao, Qingyang Q; Lauschke, Volker M VM

Publication Date: 2021-06-02

Variant appearance in text: GAA: 1496G>A; Trp499Ter; rs766680292

PubMed Link: 34078906

Variant Present in the following documents:

• 41525_2021_203_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

Carrier frequency and predicted genetic prevalence of Pompe disease based on a general population database.

Molecular Genetics And Metabolism Reports

Park, Kyung Sun KS

Publication Date: 2021-06

Variant appearance in text: GAA: 1496G>A; Trp499Ter

PubMed Link: 33717985

Variant Present in the following documents:

• mmc1.xlsx, sheet 1

View BVdb publication page

---

Loss of heterozygosity of essential genes represents a widespread class of potential cancer vulnerabilities.

Nature Communications

Nichols, Caitlin A CA; Gibson, William J WJ; Brown, Meredith S MS; Kosmicki, Jack A JA; Busanovich, John P JP; Wei, Hope H; Urbanski, Laura M LM; Curimjee, Naomi N; Berger, Ashton C AC; Gao, Galen F GF; Cherniack, Andrew D AD; Dhe-Paganon, Sirano S; Paolella, Brenton R BR; Beroukhim, Rameen R

Publication Date: 2020-05-20

Variant appearance in text: GAA: 1496G>A

PubMed Link: 32433464

Variant Present in the following documents:

• 41467_2020_16399_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

---

Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics

Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM

Publication Date: 2019-10

Variant appearance in text: GAA: 1496G>A; Trp499*; rs766680292

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

View BVdb publication page

---

GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry.

Human Mutation

Reuser, Arnold J J AJJ; van der Ploeg, Ans T AT; Chien, Yin-Hsiu YH; Llerena, Juan J; Abbott, Mary-Alice MA; Clemens, Paula R PR; Kimonis, Virginia E VE; Leslie, Nancy N; Maruti, Sonia S SS; Sanson, Bernd-Jan BJ; Araujo, Roberto R; Periquet, Magali M; Toscano, Antonio A; Kishnani, Priya S PS; On Behalf Of The Pompe Registry Sites,

Publication Date: 2019-11

Variant appearance in text: GAA: 1496G>A

PubMed Link: 31342611

Variant Present in the following documents:

• Main text
• HUMU-40-2146-s001.pdf
• HUMU-40-2146.pdf

View BVdb publication page

---

The ERBB-STAT3 Axis Drives Tasmanian Devil Facial Tumor Disease.

Cancer Cell

Kosack, Lindsay L; Wingelhofer, Bettina B; Popa, Alexandra A; Orlova, Anna A; Agerer, Benedikt B; Vilagos, Bojan B; Majek, Peter P; Parapatics, Katja K; Lercher, Alexander A; Ringler, Anna A; Klughammer, Johanna J; Smyth, Mark M; Khamina, Kseniya K; Baazim, Hatoon H; de Araujo, Elvin D ED; Rosa, David A DA; Park, Jisung J; Tin, Gary G; Ahmar, Siawash S; Gunning, Patrick T PT; Bock, Christoph C; Siddle, Hannah V HV; Woods, Gregory M GM; Kubicek, Stefan S; Murchison, Elizabeth P EP; Bennett, Keiryn L KL; Moriggl, Richard R; Bergthaler, Andreas A

Publication Date: 2019-01-14

Variant appearance in text: GAA: 1496G>A

PubMed Link: 30645971

Variant Present in the following documents:

• mmc5.xlsx, sheet 2

View BVdb publication page

---

CRIM-negative infantile Pompe disease: characterization of immune responses in patients treated with ERT monotherapy.

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

Berrier, Kathryn L KL; Kazi, Zoheb B ZB; Prater, Sean N SN; Bali, Deeksha S DS; Goldstein, Jennifer J; Stefanescu, Mihaela C MC; Rehder, Catherine W CW; Botha, Eleanor G EG; Ellaway, Carolyn C; Bhattacharya, Kaustuv K; Tylki-Szymanska, Anna A; Karabul, Nesrin N; Rosenberg, Amy S AS; Kishnani, Priya S PS

Publication Date: 2015-11

Variant appearance in text: GAA: 1496G>A; Trp499X

PubMed Link: 25741864

Variant Present in the following documents:

• Main text
• nihms654429.pdf

View BVdb publication page

---

Predicting cross-reactive immunological material (CRIM) status in Pompe disease using GAA mutations: lessons learned from 10 years of clinical laboratory testing experience.

American Journal Of Medical Genetics. Part C, Seminars In Medical Genetics

Bali, Deeksha S DS; Goldstein, Jennifer L JL; Banugaria, Suhrad S; Dai, Jian J; Mackey, Joanne J; Rehder, Catherine C; Kishnani, Priya S PS

Publication Date: 2012-02-15

Variant appearance in text: GAA: 1496G>A; Trp499X

PubMed Link: 22252923

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants.

Molecular Genetics And Metabolism

Kishnani, Priya S PS; Goldenberg, Paula C PC; DeArmey, Stephanie L SL; Heller, James J; Benjamin, Danny D; Young, Sarah S; Bali, Deeksha D; Smith, Sue Ann SA; Li, Jennifer S JS; Mandel, Hanna H; Koeberl, Dwight D; Rosenberg, Amy A; Chen, Y-T YT

Publication Date: 2010-01

Variant appearance in text: GAA: 1496G>A

PubMed Link: 19775921

Variant Present in the following documents:

• Main text

View BVdb publication page

---