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: 1431del; Ile477fs

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

---

Molecular autopsy by proxy in preconception counseling.

Clinical Genetics

Ali Alghamdi, Malak M; Alrasheedi, Ameinah A; Alghamdi, Esra E; Adly, Nouran N; AlAali, Wajeih Y WY; Alhashem, Amal A; Alshahrani, Abdulaziz A; Shamseldin, Hanan H; Alkuraya, Fowzan S FS; Alfadhel, Majid M

Publication Date: 2021-12

Variant appearance in text: GAA: 1430delT

PubMed Link: 34406647

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Update of the Pompe variant database for the prediction of clinical phenotypes: Novel disease-associated variants, common sequence variants, and results from newborn screening.

Human Mutation

de Faria, Douglas O S DOS; 't Groen, Stijn L M In SLMI; Hoogeveen-Westerveld, Marianne M; Nino, Monica Y MY; van der Ploeg, Ans T AT; Bergsma, Atze J AJ; Pijnappel, W W M Pim WWMP

Publication Date: 2021-02

Variant appearance in text: GAA: 1431del

PubMed Link: 33560568

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Update of the Pompe variant database for the prediction of clinical phenotypes: Novel disease-associated variants, common sequence variants, and results from newborn screening.

Human Mutation

de Faria, Douglas O S DOS; 't Groen, Stijn L M In SLMI; Hoogeveen-Westerveld, Marianne M; Nino, Monica Y MY; van der Ploeg, Ans T AT; Bergsma, Atze J AJ; Pijnappel, W W M Pim WWMP

Publication Date: 2021-02

Variant appearance in text: GAA: 1431del

PubMed Link: 33560568

Variant Present in the following documents:

• Main text

View BVdb publication page

---

The phenotype, genotype, and outcome of infantile-onset Pompe disease in 18 Saudi patients.

Molecular Genetics And Metabolism Reports

Al-Hassnan, Zuhair N ZN; Khalifa, Ola A OA; Bubshait, Dalal K DK; Tulbah, Sahar S; Alkorashy, Maarab M; Alzaidan, Hamad H; Alowain, Mohammed M; Rahbeeni, Zuhair Z; Al-Sayed, Moeen M

Publication Date: 2018-06

Variant appearance in text: GAA: 1431delT; Ile477fs

PubMed Link: 30023291

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

---

Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia.

Orphanet Journal Of Rare Diseases

Alfadhel, Majid M; Benmeakel, Mohammed M; Hossain, Mohammad Arif MA; Al Mutairi, Fuad F; Al Othaim, Ali A; Alfares, Ahmed A AA; Al Balwi, Mohammed M; Alzaben, Abdullah A; Eyaid, Wafaa W

Publication Date: 2016-09-15

Variant appearance in text: GAA: 1431delT

PubMed Link: 27629047

Variant Present in the following documents:

• Main text

View BVdb publication page

---