Publications:

---

Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience

Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD

Publication Date: 2022-02

Variant appearance in text: GGCX: W315X; rs564812596

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 8

View BVdb publication page

---

The Role of GRP and MGP in the Development of Non-Hemorrhagic VKCFD1 Phenotypes.

International Journal Of Molecular Sciences

Ghosh, Suvoshree S; Oldenburg, Johannes J; Czogalla-Nitsche, Katrin J KJ

Publication Date: 2022-01-12

Variant appearance in text: GGCX: W315X

PubMed Link: 35054981

Variant Present in the following documents:

• Main text
• ijms-23-00798.pdf

View BVdb publication page

---

The Role of GRP and MGP in the Development of Non-Hemorrhagic VKCFD1 Phenotypes.

International Journal Of Molecular Sciences

Ghosh, Suvoshree S; Oldenburg, Johannes J; Czogalla-Nitsche, Katrin J KJ

Publication Date: 2022-01-12

Variant appearance in text: GGCX: W315X

PubMed Link: 35054981

Variant Present in the following documents:

• Main text
• ijms-23-00798.pdf

View BVdb publication page

---

γ-Glutamyl carboxylase mutations differentially affect the biological function of vitamin K-dependent proteins.

Blood

Hao, Zhenyu Z; Jin, Da-Yun DY; Chen, Xuejie X; Schurgers, Leon J LJ; Stafford, Darrel W DW; Tie, Jian-Ke JK

Publication Date: 2021-01-28

Variant appearance in text: GGCX: W315X

PubMed Link: 33507293

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.

Molecular Psychiatry

Jia, Xiaoming X; Goes, Fernando S FS; Locke, Adam E AE; Palmer, Duncan D; Wang, Weiqing W; Cohen-Woods, Sarah S; Genovese, Giulio G; Jackson, Anne U AU; Jiang, Chen C; Kvale, Mark M; Mullins, Niamh N; Nguyen, Hoang H; Pirooznia, Mehdi M; Rivera, Margarita M; Ruderfer, Douglas M DM; Shen, Ling L; Thai, Khanh K; Zawistowski, Matthew M; Zhuang, Yongwen Y; Abecasis, Gonçalo G; Akil, Huda H; Bergen, Sarah S; Burmeister, Margit M; Chapman, Sinéad S; DelaBastide, Melissa M; Juréus, Anders A; Kang, Hyun Min HM; Kwok, Pui-Yan PY; Li, Jun Z JZ; Levy, Shawn E SE; Monson, Eric T ET; Moran, Jennifer J; Sobell, Janet J; Watson, Stanley S; Willour, Virginia V; Zöllner, Sebastian S; Adolfsson, Rolf R; Blackwood, Douglas D; Boehnke, Michael M; Breen, Gerome G; Corvin, Aiden A; Craddock, Nick N; DiFlorio, Arianna A; Hultman, Christina M CM; Landen, Mikael M; Lewis, Cathryn C; McCarroll, Steven A SA; Richard McCombie, W W; McGuffin, Peter P; McIntosh, Andrew A; McQuillin, Andrew A; Morris, Derek D; Myers, Richard M RM; O'Donovan, Michael M; Ophoff, Roel R; Boks, Marco M; Kahn, Rene R; Ouwehand, Willem W; Owen, Michael M; Pato, Carlos C; Pato, Michele M; Posthuma, Danielle D; Potash, James B JB; Reif, Andreas A; Sklar, Pamela P; Smoller, Jordan J; Sullivan, Patrick F PF; Vincent, John J; Walters, James J; Neale, Benjamin B; Purcell, Shaun S; Risch, Neil N; Schaefer, Catherine C; Stahl, Eli A EA; Zandi, Peter P PP; Scott, Laura J LJ

Publication Date: 2021-09

Variant appearance in text: GGCX: W315X

PubMed Link: 33483695

Variant Present in the following documents:

• 41380_2020_1006_MOESM2_ESM.xlsx, sheet 3

View BVdb publication page

---

Familial Multiple Coagulation Factor Deficiencies (FMCFDs) in a Large Cohort of Patients-A Single-Center Experience in Genetic Diagnosis.

Journal Of Clinical Medicine

Preisler, Barbara B; Pezeshkpoor, Behnaz B; Banchev, Atanas A; Fischer, Ronald R; Zieger, Barbara B; Scholz, Ute U; Rühl, Heiko H; Kemkes-Matthes, Bettina B; Schmitt, Ursula U; Redlich, Antje A; Unal, Sule S; Laws, Hans-Jürgen HJ; Olivieri, Martin M; Oldenburg, Johannes J; Pavlova, Anna A

Publication Date: 2021-01-18

Variant appearance in text: GGCX: Trp315Ter

PubMed Link: 33477601

Variant Present in the following documents:

• jcm-10-00347.pdf

View BVdb publication page

---

Molecular basis of the first reported clinical case of congenital combined deficiency of coagulation factors.

Blood

Jin, Da-Yun DY; Ingram, Brian O BO; Stafford, Darrel W DW; Tie, Jian-Ke JK

Publication Date: 2017-08-17

Variant appearance in text: GGCX: W315X

PubMed Link: 28679738

Variant Present in the following documents:

• Main text

View BVdb publication page

---

GGCX-Associated Phenotypes: An Overview in Search of Genotype-Phenotype Correlations.

International Journal Of Molecular Sciences

De Vilder, Eva Y G EY; Debacker, Jens J; Vanakker, Olivier M OM

Publication Date: 2017-01-25

Variant appearance in text: GGCX: 944G>A

PubMed Link: 28125048

Variant Present in the following documents:

• Main text
• ijms-18-00240.pdf

View BVdb publication page

---

Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Nature Communications

Cereda, Matteo M; Gambardella, Gennaro G; Benedetti, Lorena L; Iannelli, Fabio F; Patel, Dominic D; Basso, Gianluca G; Guerra, Rosalinda F RF; Mourikis, Thanos P TP; Puccio, Ignazio I; Sinha, Shruti S; Laghi, Luigi L; Spencer, Jo J; Rodriguez-Justo, Manuel M; Ciccarelli, Francesca D FD

Publication Date: 2016-07-05

Variant appearance in text: GGCX: W315X

PubMed Link: 27377421

Variant Present in the following documents:

• ncomms12072-s6.xlsx, sheet 1

View BVdb publication page

---