Publications:

---

Multiancestry exome sequencing reveals INHBE mutations associated with favorable fat distribution and protection from diabetes.

Nature Communications

Akbari, Parsa P; Sosina, Olukayode A OA; Bovijn, Jonas J; Landheer, Karl K; Nielsen, Jonas B JB; Kim, Minhee M; Aykul, Senem S; De, Tanima T; Haas, Mary E ME; Hindy, George G; Lin, Nan N; Dinsmore, Ian R IR; Luo, Jonathan Z JZ; Hectors, Stefanie S; Geraghty, Benjamin B; Germino, Mary M; Panagis, Lampros L; Parasoglou, Prodromos P; Walls, Johnathon R JR; Halasz, Gabor G; Atwal, Gurinder S GS; , ; , ; Jones, Marcus M; LeBlanc, Michelle G MG; Still, Christopher D CD; Carey, David J DJ; Giontella, Alice A; Orho-Melander, Marju M; Berumen, Jaime J; Kuri-Morales, Pablo P; Alegre-Díaz, Jesus J; Torres, Jason M JM; Emberson, Jonathan R JR; Collins, Rory R; Rader, Daniel J DJ; Zambrowicz, Brian B; Murphy, Andrew J AJ; Balasubramanian, Suganthi S; Overton, John D JD; Reid, Jeffrey G JG; Shuldiner, Alan R AR; Cantor, Michael M; Abecasis, Goncalo R GR; Ferreira, Manuel A R MAR; Sleeman, Mark W MW; Gusarova, Viktoria V; Altarejos, Judith J; Harris, Charles C; Economides, Aris N AN; Idone, Vincent V; Karalis, Katia K; Della Gatta, Giusy G; Mirshahi, Tooraj T; Yancopoulos, George D GD; Melander, Olle O; Marchini, Jonathan J; Tapia-Conyer, Roberto R; Locke, Adam E AE; Baras, Aris A; Verweij, Niek N; Lotta, Luca A LA

Publication Date: 2022-08-23

Variant appearance in text: ACVR1C: 584T>C; Ile195Thr; rs56188432

PubMed Link: 35999217

Variant Present in the following documents:

• 41467_2022_32398_MOESM4_ESM.xlsx, sheet 10
• 41467_2022_32398_MOESM4_ESM.xlsx, sheet 4

View BVdb publication page

---

Rare loss of function variants in the hepatokine gene INHBE protect from abdominal obesity.

Nature Communications

Deaton, Aimee M AM; Dubey, Aditi A; Ward, Lucas D LD; Dornbos, Peter P; Flannick, Jason J; , ; Yee, Elaine E; Ticau, Simina S; Noetzli, Leila L; Parker, Margaret M MM; Hoffing, Rachel A RA; Willis, Carissa C; Plekan, Mollie E ME; Holleman, Aaron M AM; Hinkle, Gregory G; Fitzgerald, Kevin K; Vaishnaw, Akshay K AK; Nioi, Paul P

Publication Date: 2022-07-27

Variant appearance in text: ACVR1C: Ile195Thr; rs56188432

PubMed Link: 35896531

Variant Present in the following documents:

• Main text
• 41467_2022_Article_31757.pdf

View BVdb publication page

---

Inherited basis of visceral, abdominal subcutaneous and gluteofemoral fat depots.

Nature Communications

Agrawal, Saaket S; Wang, Minxian M; Klarqvist, Marcus D R MDR; Smith, Kirk K; Shin, Joseph J; Dashti, Hesam H; Diamant, Nathaniel N; Choi, Seung Hoan SH; Jurgens, Sean J SJ; Ellinor, Patrick T PT; Philippakis, Anthony A; Claussnitzer, Melina M; Ng, Kenney K; Udler, Miriam S MS; Batra, Puneet P; Khera, Amit V AV

Publication Date: 2022-06-30

Variant appearance in text: ACVR1C: Ile195Thr; rs56188432

PubMed Link: 35773277

Variant Present in the following documents:

• Main text
• 41467_2022_Article_30931.pdf

View BVdb publication page

---

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: ACVR1C: I195T; rs56188432

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9

View BVdb publication page

---

Identification of Rare Loss-of-Function Genetic Variation Regulating Body Fat Distribution.

The Journal Of Clinical Endocrinology And Metabolism

Koprulu, Mine M; Zhao, Yajie Y; Wheeler, Eleanor E; Dong, Liang L; Rocha, Nuno N; Li, Chen C; Griffin, John D JD; Patel, Satish S; Van de Streek, Marcel M; Glastonbury, Craig A CA; Stewart, Isobel D ID; Day, Felix R FR; Luan, Jian'an J; Bowker, Nicholas N; Wittemans, Laura B L LBL; Kerrison, Nicola D ND; Cai, Lina L; Lucarelli, Debora M E DME; Barroso, Inês I; McCarthy, Mark I MI; Scott, Robert A RA; Saudek, Vladimir V; Small, Kerrin S KS; Wareham, Nicholas J NJ; Semple, Robert K RK; Perry, John R B JRB; O'Rahilly, Stephen S; Lotta, Luca A LA; Langenberg, Claudia C; Savage, David B DB

Publication Date: 2022-03-24

Variant appearance in text: ACVR1C: I195T; rs56188432

PubMed Link: 34875679

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Common genetic variants with fetal effects on birth weight are enriched for proximity to genes implicated in rare developmental disorders.

Human Molecular Genetics

Beaumont, Robin N RN; Mayne, Isabelle K IK; Freathy, Rachel M RM; Wright, Caroline F CF

Publication Date: 2021-05-31

Variant appearance in text: rs56188432

PubMed Link: 33682876

Variant Present in the following documents:

• Main text
• ddab060.pdf

View BVdb publication page

---

DNA Sequence Variation in ACVR1C Encoding the Activin Receptor-Like Kinase 7 Influences Body Fat Distribution and Protects Against Type 2 Diabetes.

Diabetes

Emdin, Connor A CA; Khera, Amit V AV; Aragam, Krishna K; Haas, Mary M; Chaffin, Mark M; Klarin, Derek D; Natarajan, Pradeep P; Bick, Alexander A; Zekavat, Seyedeh M SM; Nomura, Akihiro A; Ardissino, Diego D; Wilson, James G JG; Schunkert, Heribert H; McPherson, Ruth R; Watkins, Hugh H; Elosua, Roberto R; Bown, Matthew J MJ; Samani, Nilesh J NJ; Baber, Usman U; Erdmann, Jeanette J; Gupta, Namrata N; Danesh, John J; Saleheen, Danish D; Gabriel, Stacey S; Kathiresan, Sekar S

Publication Date: 2019-01

Variant appearance in text: ACVR1C: I195T

PubMed Link: 30389748

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.

Scientific Reports

Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE

Publication Date: 2017-04-25

Variant appearance in text: ACVR1C: I195T; rs56188432

PubMed Link: 28440294

Variant Present in the following documents:

• srep46105-s2.xls, sheet 8

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: ACVR1C: I195T

PubMed Link: 27377421

Variant Present in the following documents:

• ncomms12072-s6.xlsx, sheet 1

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: rs56188432

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

---

Whole-Genome Sequencing Suggests Schizophrenia Risk Mechanisms in Humans with 22q11.2 Deletion Syndrome.

G3 (Bethesda, Md.)

Merico, Daniele D; Zarrei, Mehdi M; Costain, Gregory G; Ogura, Lucas L; Alipanahi, Babak B; Gazzellone, Matthew J MJ; Butcher, Nancy J NJ; Thiruvahindrapuram, Bhooma B; Nalpathamkalam, Thomas T; Chow, Eva W C EW; Andrade, Danielle M DM; Frey, Brendan J BJ; Marshall, Christian R CR; Scherer, Stephen W SW; Bassett, Anne S AS

Publication Date: 2015-09-16

Variant appearance in text: ACVR1C: I195T; rs56188432

PubMed Link: 26384369

Variant Present in the following documents:

• supp_g3.115.021345_TableS1.xlsx, sheet 1

View BVdb publication page

---

Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine

Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L

Publication Date: 2014-12

Variant appearance in text: ACVR1C: I195T

PubMed Link: 25326804

Variant Present in the following documents:

• NIHMS630249-supplement-5.xlsx, sheet 1

View BVdb publication page

---