Publications:

---

Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem

Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS

Publication Date: 2022-11

Variant appearance in text: rs62619939

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

---

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: CUBN: L2153L

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM5_ESM.xlsx, sheet 2

View BVdb publication page

---

Eph and Ephrin Variants in Malaysian Neural Tube Defect Families.

Genes

Mohd-Zin, Siti Waheeda SW; Tan, Amelia Cheng Wei ACW; Atroosh, Wahib M WM; Thong, Meow-Keong MK; Azizi, Abu Bakar AB; Greene, Nicholas D E NDE; Abdul-Aziz, Noraishah Mydin NM

Publication Date: 2022-05-26

Variant appearance in text: rs62619939

PubMed Link: 35741713

Variant Present in the following documents:

• Main text
• genes-13-00952.pdf

View BVdb publication page

---

Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease

Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D

Publication Date: 2019-02-27

Variant appearance in text: rs62619939

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3
• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1

View BVdb publication page

---

A novel rare CUBN variant and three additional genes identified in Europeans with and without diabetes: results from an exome-wide association study of albuminuria.

Diabetologia

Ahluwalia, Tarunveer S TS; Schulz, Christina-Alexandra CA; Waage, Johannes J; Skaaby, Tea T; Sandholm, Niina N; van Zuydam, Natalie N; Charmet, Romain R; Bork-Jensen, Jette J; Almgren, Peter P; Thuesen, Betina H BH; Bedin, Mathilda M; Brandslund, Ivan I; Christensen, Cramer K CK; Linneberg, Allan A; Ahlqvist, Emma E; Groop, Per-Henrik PH; Hadjadj, Samy S; Tregouet, David-Alexandre DA; Jørgensen, Marit E ME; Grarup, Niels N; Pedersen, Oluf O; Simons, Matias M; Groop, Leif L; Orho-Melander, Marju M; McCarthy, Mark I MI; Melander, Olle O; Rossing, Peter P; Kilpeläinen, Tuomas O TO; Hansen, Torben T

Publication Date: 2019-02

Variant appearance in text: rs62619939

PubMed Link: 30547231

Variant Present in the following documents:

• 125_2018_4783_MOESM1_ESM.pdf

View BVdb publication page

---

Association Analysis of the Cubilin (CUBN) and Megalin (LRP2) Genes with ESRD in African Americans.

Clinical Journal Of The American Society Of Nephrology : Cjasn

Ma, Jun J; Guan, Meijian M; Bowden, Donald W DW; Ng, Maggie C Y MC; Hicks, Pamela J PJ; Lea, Janice P JP; Ma, Lijun L; Gao, Chuan C; Palmer, Nicholette D ND; Freedman, Barry I BI

Publication Date: 2016-06-06

Variant appearance in text: rs62619939

PubMed Link: 27197912

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs62619939

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

---