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: HLA-B: S121S

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM8_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM6_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM11_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM12_ESM.xlsx, sheet 2

View BVdb publication page

---

A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation

Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-09-08

Variant appearance in text: HLA-B: S121S

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

---

MHC Variants Associated With Symptomatic Versus Asymptomatic SARS-CoV-2 Infection in Highly Exposed Individuals.

Frontiers In Immunology

Castelli, Erick C EC; de Castro, Mateus V MV; Naslavsky, Michel S MS; Scliar, Marilia O MO; Silva, Nayane S B NSB; Andrade, Heloisa S HS; Souza, Andreia S AS; Pereira, Raphaela N RN; Castro, Camila F B CFB; Mendes-Junior, Celso T CT; Meyer, Diogo D; Nunes, Kelly K; Matos, Larissa R B LRB; Silva, Monize V R MVR; Wang, Jaqueline Y T JYT; Esposito, Joyce J; Coria, Vivian R VR; Bortolin, Raul H RH; Hirata, Mario H MH; Magawa, Jhosiene Y JY; Cunha-Neto, Edecio E; Coelho, Verônica V; Santos, Keity S KS; Marin, Maria Lucia C MLC; Kalil, Jorge J; Mitne-Neto, Miguel M; Maciel, Rui M B RMB; Passos-Bueno, Maria Rita MR; Zatz, Mayana M

Publication Date: 2021

Variant appearance in text: rs1140412

PubMed Link: 34650566

Variant Present in the following documents:

• Table_3.xlsx, sheet 4
• Table_3.xlsx, sheet 5
• Table_3.xlsx, sheet 3
• Table_3.xlsx, sheet 1
• Table_3.xlsx, sheet 2

View BVdb publication page

---

A pilot study comparing the genetic molecular biology of gestational and non-gestational choriocarcinoma.

American Journal Of Translational Research

Lazare, Cordelle C; Zhi, Wenhua W; Dai, Jun J; Cao, Canhui C; Sookha, Rajiv Rai RR; Wang, Ling L; Meng, Yifan Y; Gao, Peipei P; Wu, Ping P; Wei, Juncheng J; Hu, Junbo J; Wu, Peng P

Publication Date: 2019

Variant appearance in text: rs1140412

PubMed Link: 31814908

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology

Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P

Publication Date: 2018

Variant appearance in text: HLA-B: 363C>T; rs1140412

PubMed Link: 30319441

Variant Present in the following documents:

• Table_6.xlsx, sheet 1
• Table_5.xlsx, sheet 1
• Table_7.xlsx, sheet 1

View BVdb publication page

---

Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation

Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H

Publication Date: 2017

Variant appearance in text: rs1140412

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

---

Methodology for single nucleotide polymorphism selection in promoter regions for clinical use. An example of its applicability.

International Journal Of Molecular Epidemiology And Genetics

Marques, Herlander H; Freitas, José J; Medeiros, Rui R; Longatto-Filho, Adhemar A

Publication Date: 2016

Variant appearance in text: rs1140412

PubMed Link: 27766139

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Study of Alzheimer family case reveals hemochromotosis-associated HFE mutation.

Human Genome Variation

Artemov, Artem V AV; Boulygina, Eugenia S ES; Tsygankova, Svetlana V SV; Nedoluzhko, Artem V AV; Chekanov, Nikolay N NN; Gruzdeva, Natalia M NM; Selezneva, Natalia D ND; Roshchina, Irina F IF; Gavrilova, Svetlana I SI; Velichkovsky, Boris B BB; Skryabin, Konstantin G KG; Prokhortchouk, Egor B EB

Publication Date: 2014

Variant appearance in text: rs1140412

PubMed Link: 27081498

Variant Present in the following documents:

• hgv20144.pdf

View BVdb publication page

---

Major histocompatibility complex associations of ankylosing spondylitis are complex and involve further epistasis with ERAP1.

Nature Communications

Cortes, Adrian A; Pulit, Sara L SL; Leo, Paul J PJ; Pointon, Jenny J JJ; Robinson, Philip C PC; Weisman, Michael H MH; Ward, Michael M; Gensler, Lianne S LS; Zhou, Xiaodong X; Garchon, Henri-Jean HJ; Chiocchia, Gilles G; Nossent, Johannes J; Lie, Benedicte A BA; Førre, Øystein Ø; Tuomilehto, Jaakko J; Laiho, Kari K; Bradbury, Linda A LA; Elewaut, Dirk D; Burgos-Vargas, Ruben R; Stebbings, Simon S; Appleton, Louise L; Farrah, Claire C; Lau, Jonathan J; Haroon, Nigil N; Mulero, Juan J; Blanco, Francisco J FJ; Gonzalez-Gay, Miguel A MA; Lopez-Larrea, C C; Bowness, Paul P; Gaffney, Karl K; Gaston, Hill H; Gladman, Dafna D DD; Rahman, Proton P; Maksymowych, Walter P WP; Crusius, J Bart A JB; van der Horst-Bruinsma, Irene E IE; Valle-Oñate, Raphael R; Romero-Sánchez, Consuelo C; Hansen, Inger Myrnes IM; Pimentel-Santos, Fernando M FM; Inman, Robert D RD; Martin, Javier J; Breban, Maxime M; Wordsworth, Bryan Paul BP; Reveille, John D JD; Evans, David M DM; de Bakker, Paul I W PI; Brown, Matthew A MA

Publication Date: 2015-05-21

Variant appearance in text: rs1140412

PubMed Link: 25994336

Variant Present in the following documents:

• Main text
• ncomms8146.pdf

View BVdb publication page

---

Deep Sequence Analysis of Non-Small Cell Lung Cancer: Integrated Analysis of Gene Expression, Alternative Splicing, and Single Nucleotide Variations in Lung Adenocarcinomas with and without Oncogenic KRAS Mutations.

Frontiers In Oncology

Kalari, Krishna R KR; Rossell, David D; Necela, Brian M BM; Asmann, Yan W YW; Nair, Asha A; Baheti, Saurabh S; Kachergus, Jennifer M JM; Younkin, Curtis S CS; Baker, Tiffany T; Carr, Jennifer M JM; Tang, Xiaojia X; Walsh, Michael P MP; Chai, High-Seng HS; Sun, Zhifu Z; Hart, Steven N SN; Leontovich, Alexey A AA; Hossain, Asif A; Kocher, Jean-Pierre JP; Perez, Edith A EA; Reisman, David N DN; Fields, Alan P AP; Thompson, E Aubrey EA

Publication Date: 2012

Variant appearance in text: rs1140412

PubMed Link: 22655260

Variant Present in the following documents:

• Main text
• fonc-02-00012.pdf

View BVdb publication page

---