Publications:

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A novel de novo nonsense mutation in SALL4 causing duane radial ray syndrome: a case report and expanding the phenotypic spectrum.

Bmc Medical Genomics

Ajam-Hosseini, Mobarakeh M; Parvini, Farshid F; Angaji, Abdolhamid A

Publication Date: 2023-02-24

Variant appearance in text: GAA: S619N; rs753269119

PubMed Link: 36829172

Variant Present in the following documents:

• 12920_2023_1467_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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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: 1856G>A; Ser619Asn

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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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: 1856G>A; Ser619Asn; rs753269119

PubMed Link: 34078906

Variant Present in the following documents:

• 41525_2021_203_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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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: 1856G>A; Ser619Asn

PubMed Link: 33717985

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Newborn Screening for Pompe Disease: Pennsylvania Experience.

International Journal Of Neonatal Screening

Ficicioglu, Can C; Ahrens-Nicklas, Rebecca C RC; Barch, Joshua J; Cuddapah, Sanmati R SR; DiBoscio, Brenda S BS; DiPerna, James C JC; Gordon, Patricia L PL; Henderson, Nadene N; Menello, Caitlin C; Luongo, Nicole N; Ortiz, Damara D; Xiao, Rui R

Publication Date: 2020-11-13

Variant appearance in text: GAA: 1856G>A

PubMed Link: 33202836

Variant Present in the following documents:

• Main text
• IJNS-06-00089.pdf

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The First Year Experience of Newborn Screening for Pompe Disease in California.

International Journal Of Neonatal Screening

Tang, Hao H; Feuchtbaum, Lisa L; Sciortino, Stanley S; Matteson, Jamie J; Mathur, Deepika D; Bishop, Tracey T; Olney, Richard S RS

Publication Date: 2020-03

Variant appearance in text: GAA: 1856G>A

PubMed Link: 33073007

Variant Present in the following documents:

• Main text
• IJNS-06-00009.pdf

View BVdb publication page

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Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports

Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA

Publication Date: 2020-09-21

Variant appearance in text: GAA: S619N

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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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: 1856G>A; Ser619Asn; rs753269119

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

View BVdb publication page

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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: 1856G>A; Ser619Asn

PubMed Link: 31342611

Variant Present in the following documents:

• HUMU-40-2146-s001.pdf

View BVdb publication page

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[Research advances in the diagnosis and treatment of Pompe disease].

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal Of Contemporary Pediatrics

Zhang, Xin-Tong XT; Ren, Wei-Dong WD

Publication Date: 2018-07

Variant appearance in text: GAA: 1856G>A; Ser619Asn

PubMed Link: 30022764

Variant Present in the following documents:

• Main text

View BVdb publication page

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Structure of human lysosomal acid α-glucosidase-a guide for the treatment of Pompe disease.

Nature Communications

Roig-Zamboni, Véronique V; Cobucci-Ponzano, Beatrice B; Iacono, Roberta R; Ferrara, Maria Carmina MC; Germany, Stanley S; Bourne, Yves Y; Parenti, Giancarlo G; Moracci, Marco M; Sulzenbacher, Gerlind G

Publication Date: 2017-10-24

Variant appearance in text: GAA: S619N

PubMed Link: 29061980

Variant Present in the following documents:

• 41467_2017_1263_MOESM1_ESM.pdf

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A chaperone enhances blood α-glucosidase activity in Pompe disease patients treated with enzyme replacement therapy.

Molecular Therapy : The Journal Of The American Society Of Gene Therapy

Parenti, Giancarlo G; Fecarotta, Simona S; la Marca, Giancarlo G; Rossi, Barbara B; Ascione, Serena S; Donati, Maria Alice MA; Morandi, Lucia Ovidia LO; Ravaglia, Sabrina S; Pichiecchio, Anna A; Ombrone, Daniela D; Sacchini, Michele M; Pasanisi, Maria Barbara MB; De Filippi, Paola P; Danesino, Cesare C; Della Casa, Roberto R; Romano, Alfonso A; Mollica, Carmine C; Rosa, Margherita M; Agovino, Teresa T; Nusco, Edoardo E; Porto, Caterina C; Andria, Generoso G

Publication Date: 2014-11

Variant appearance in text: GAA: 1856G>A

PubMed Link: 25052852

Variant Present in the following documents:

• Main text

View BVdb publication page

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Improvement of dysphagia in a child affected by Pompe disease treated with enzyme replacement therapy.

Italian Journal Of Pediatrics

Fecarotta, Simona S; Ascione, Serena S; Montefusco, Giuseppe G; Della Casa, Roberto R; Villari, Paola P; Romano, Alfonso A; Del Giudice, Ennio E; Andria, Generoso G; Parenti, Giancarlo G

Publication Date: 2013-05-13

Variant appearance in text: GAA: 1856G>A

PubMed Link: 23668440

Variant Present in the following documents:

• Main text
• 1824-7288-39-30.pdf

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Comparison of dysferlin expression in human skeletal muscle with that in monocytes for the diagnosis of dysferlin myopathy.

Plos One

Gallardo, Eduard E; de Luna, Noemi N; Diaz-Manera, Jordi J; Rojas-García, Ricardo R; Gonzalez-Quereda, Lidia L; Flix, Bàrbara B; de Morrée, Antoine A; van der Maarel, Silvère S; Illa, Isabel I

Publication Date: 2011

Variant appearance in text: GAA: 1856G>A; Ser619Asn

PubMed Link: 22194990

Variant Present in the following documents:

• Main text
• pone.0029061.pdf

View BVdb publication page

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