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: LRP1: P369P

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM11_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM10_ESM.xlsx, sheet 2

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Next-generation sequencing identified novel Desmoplakin frame-shift variant in patients with Arrhythmogenic cardiomyopathy.

Bmc Cardiovascular Disorders

Lin, Xiaoping X; Ma, Yuankun Y; Cai, Zhejun Z; Wang, Qiyuan Q; Wang, Lihua L; Huo, Zhaoxia Z; Hu, Dan D; Wang, Jian'an J; Xiang, Meixiang M

Publication Date: 2020-02-11

Variant appearance in text: LRP1: 1107T>C; P369P; rs34574998

PubMed Link: 32046637

Variant Present in the following documents:

• 12872_2020_1369_MOESM1_ESM.xlsx, sheet 1

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Searching for ancient balanced polymorphisms shared between Neanderthals and Modern Humans.

Genetics And Molecular Biology

Viscardi, Lucas Henriques LH; Paixão-Côrtes, Vanessa Rodrigues VR; Comas, David D; Salzano, Francisco Mauro FM; Rovaris, Diego D; Bau, Claiton Dotto CD; Amorim, Carlos Eduardo G CEG; Bortolini, Maria Cátira MC

Publication Date: 2018

Variant appearance in text: rs34574998

PubMed Link: 29658973

Variant Present in the following documents:

• Main text
• 1415-4757-GMB-41-01-2017-0308.pdf

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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: rs34574998

PubMed Link: 23357958

Variant Present in the following documents:

• Main text

View BVdb publication page