Publications:

---

Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports

Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-10-14

Variant appearance in text: rs12814239

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2

View BVdb publication page

---

The Role of Brain Microvascular Endothelial Cell and Blood-Brain Barrier Dysfunction in Schizophrenia.

Complex Psychiatry

Pong, Sovannarath S; Karmacharya, Rakesh R; Sofman, Marianna M; Bishop, Jeffrey R JR; Lizano, Paulo P

Publication Date: 2020-10

Variant appearance in text: rs12814239

PubMed Link: 34883503

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Novel germline TRAF3IP3 mutation in a dyad with familial acute B lymphoblastic leukemia.

Cancer Reports (Hoboken, N.J.)

Pommert, Lauren L; Burns, Robert R; Furumo, Quinlan Q; Pulakanti, Kirthi K; Brandt, Jon J; Burke, Michael J MJ; Rao, Sridhar S

Publication Date: 2021-06

Variant appearance in text: LRP1: 3783C>T; C1261C; rs12814239

PubMed Link: 33503336

Variant Present in the following documents:

• CNR2-4-e1335-s003.xlsx, sheet 2
• CNR2-4-e1335-s003.xlsx, sheet 1

View BVdb publication page

---

Truncating variant burden in high-functioning autism and pleiotropic effects of LRP1 across psychiatric phenotypes

Journal Of Psychiatry & Neuroscience : Jpn

Torrico, Bàrbara B; Shaw, Alex D. AD; Mosca, Roberto R; Vivó-Luque, Norma N; Hervás, Amaia A; Fernàndez-Castillo, Noèlia N; Aloy, Patrick P; Bayés, Mònica M; Fullerton, Janice M. JM; Cormand, Bru B; Toma, Claudio C

Publication Date: 2019-09-01

Variant appearance in text: LRP1: C1261C; rs12814239

PubMed Link: 31094488

Variant Present in the following documents:

• Main text

View BVdb publication page

---

DISTMIX: direct imputation of summary statistics for unmeasured SNPs from mixed ethnicity cohorts.

Bioinformatics (Oxford, England)

Lee, Donghyung D; Bigdeli, T Bernard TB; Williamson, Vernell S VS; Vladimirov, Vladimir I VI; Riley, Brien P BP; Fanous, Ayman H AH; Bacanu, Silviu-Alin SA

Publication Date: 2015-10-01

Variant appearance in text: rs12814239

PubMed Link: 26059716

Variant Present in the following documents:

• supp_btv348_distmix_supplementary_data.pdf

View BVdb publication page

---

Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: LRP1: C1261C; rs12814239

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

---

The association between LRP-1 variants and chylomicron uptake after a high fat meal.

Nutrition, Metabolism, And Cardiovascular Diseases : Nmcd

Frazier-Wood, A C AC; Kabagambe, E K EK; Wojczynski, M K MK; Borecki, I B IB; Tiwari, H K HK; Smith, C E CE; Ordovas, J M JM; Arnett, D K DK

Publication Date: 2013-11

Variant appearance in text: rs12814239

PubMed Link: 23484911

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Lipoprotein receptor-related protein 1 variants and dietary fatty acids: meta-analysis of European origin and African American studies.

International Journal Of Obesity (2005)

Smith, C E CE; Ngwa, J J; Tanaka, T T; Qi, Q Q; Wojczynski, M K MK; Lemaitre, R N RN; Anderson, J S JS; Manichaikul, A A; Mikkilä, V V; van Rooij, F J A FJ; Ye, Z Z; Bandinelli, S S; Frazier-Wood, A C AC; Houston, D K DK; Hu, F F; Langenberg, C C; McKeown, N M NM; Mozaffarian, D D; North, K E KE; Viikari, J J; Zillikens, M C MC; Djoussé, L L; Hofman, A A; Kähönen, M M; Kabagambe, E K EK; Loos, R J F RJ; Saylor, G B GB; Forouhi, N G NG; Liu, Y Y; Mukamal, K J KJ; Chen, Y-D I YD; Tsai, M Y MY; Uitterlinden, A G AG; Raitakari, O O; van Duijn, C M CM; Arnett, D K DK; Borecki, I B IB; Cupples, L A LA; Ferrucci, L L; Kritchevsky, S B SB; Lehtimäki, T T; Qi, Lu L; Rotter, J I JI; Siscovick, D S DS; Wareham, N J NJ; Witteman, J C M JC; Ordovás, J M JM; Nettleton, J A JA

Publication Date: 2013-09

Variant appearance in text: rs12814239

PubMed Link: 23357958

Variant Present in the following documents:

• Main text

View BVdb publication page

---