Publications:

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Homozygous GRHPR C.494G>A mutation is deleterious that causes early onset of nephrolithiasis in West Bengal, India.

Frontiers In Molecular Biosciences

Chatterjee, Arindam A; Sarkar, Kunal K; Bank, Sarbashri S; Ghosh, Sudakshina S; Kumar Pal, Dilip D; Saraf, Siddharth S; Wakle, Dhansagar D; Roy, Bidyut B; Chakraborty, Santanu S; Bankura, Biswabandhu B; Chattopadhyay, Debprasad D; Das, Madhusudan M

Publication Date: 2022

Variant appearance in text: FBN1: A986T; rs112287730

PubMed Link: 36619171

Variant Present in the following documents:

• Main text
• fmolb-09-1049620.pdf

View BVdb publication page

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Clinical exome-based panel testing for medically actionable secondary findings in a cohort of 383 Italian participants.

Frontiers In Genetics

Martone, Stefania S; Buonagura, Autilia Tommasina AT; Marra, Roberta R; Rosato, Barbara Eleni BE; Del Giudice, Federica F; Bonfiglio, Ferdinando F; Capasso, Mario M; Iolascon, Achille A; Andolfo, Immacolata I; Russo, Roberta R

Publication Date: 2022

Variant appearance in text: FBN1: A986T; rs112287730

PubMed Link: 36437915

Variant Present in the following documents:

• Table3.xlsx, sheet 1

View BVdb publication page

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Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: FBN1: A986T; rs112287730

PubMed Link: 36413997

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

View BVdb publication page

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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: FBN1: A986T

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM5_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM6_ESM.xlsx, sheet 2

View BVdb publication page

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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: FBN1: A986T; rs112287730

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9

View BVdb publication page

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Clinically relevant variants in a large cohort of Indian patients with Marfan syndrome and related disorders identified by next-generation sequencing.

Scientific Reports

Nayak, Shalini S SS; Schneeberger, Pauline E PE; Patil, Siddaramappa J SJ; Arun, Karegowda M KM; Suresh, Pujar V PV; Kiran, Viralam S VS; Siddaiah, Sateesh S; Maiya, Shreesha S; Venkatachalagupta, Shrikanth K SK; Kausthubham, Neethukrishna N; Kortüm, Fanny F; Rau, Isabella I; Wey-Fabrizius, Alexandra A; Van Den Heuvel, Lotte L; Meester, Josephina J; Van Laer, Lut L; Shukla, Anju A; Loeys, Bart B; Girisha, Katta M KM; Kutsche, Kerstin K

Publication Date: 2021-01-12

Variant appearance in text: FBN1: Ala986Thr

PubMed Link: 33436942

Variant Present in the following documents:

• Main text
• 41598_2020_Article_80755.pdf

View BVdb publication page

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Weak Ligaments and Sloping Joints: A New Hypothesis for Development of Congenital Atlantoaxial Dislocation and Basilar Invagination.

Neurospine

Chauhan, Avnish K AK; Chandra, P Sarat PS; Goyal, Nishant N; Chowdhury, Madhumita R MR; Banerjee, Jyotirmoy J; Tripathi, Manjari M; Kabra, Madhulika M

Publication Date: 2020-12

Variant appearance in text: FBN1: 2956G>A; Ala986Thr

PubMed Link: 33401861

Variant Present in the following documents:

• Main text
• ns-2040434-217.pdf

View BVdb publication page

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REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports

Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D

Publication Date: 2019-09-04

Variant appearance in text: FBN1: 2956G>A; A986T

PubMed Link: 31484976

Variant Present in the following documents:

• 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Genetic basis and outcome in a nationwide study of Finnish patients with hypertrophic cardiomyopathy.

Esc Heart Failure

Jääskeläinen, Pertti P; Vangipurapu, Jagadish J; Raivo, Joose J; Kuulasmaa, Teemu T; Heliö, Tiina T; Aalto-Setälä, Katriina K; Kaartinen, Maija M; Ilveskoski, Erkki E; Vanninen, Sari S; Hämäläinen, Liisa L; Melin, John J; Kokkonen, Jorma J; Nieminen, Markku S MS; , ; Laakso, Markku M; Kuusisto, Johanna J

Publication Date: 2019-04

Variant appearance in text: FBN1: 2956G>A; Ala986Thr

PubMed Link: 30775854

Variant Present in the following documents:

• EHF2-6-436-s005.xlsx, sheet 1

View BVdb publication page

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MiR-145 expression and rare NOTCH1 variants in bicuspid aortic valve-associated aortopathy.

Plos One

Girdauskas, Evaldas E; Petersen, Johannes J; Neumann, Niklas N; Ungelenk, Martin M; Kurth, Ingo I; Reichenspurner, Hermann H; Zeller, Tanja T

Publication Date: 2018

Variant appearance in text: FBN1: 2956G>A; A986T

PubMed Link: 30059548

Variant Present in the following documents:

• Main text
• pone.0200205.pdf

View BVdb publication page

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Functional validation reveals the novel missense V419L variant in TGFBR2 associated with Loeys-Dietz syndrome (LDS) impairs canonical TGF-β signaling.

Cold Spring Harbor Molecular Case Studies

Cousin, Margot A MA; Zimmermann, Michael T MT; Mathison, Angela J AJ; Blackburn, Patrick R PR; Boczek, Nicole J NJ; Oliver, Gavin R GR; Lomberk, Gwen A GA; Urrutia, Raul A RA; Deyle, David R DR; Klee, Eric W EW

Publication Date: 2017-07

Variant appearance in text: FBN1: 2956G>A; Ala986Thr

PubMed Link: 28679693

Variant Present in the following documents:

• Main text
• CousinMCS001727.pdf

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: FBN1: 2956G>A; Ala986Thr

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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High prevalence of eosinophilic esophagitis in patients with inherited connective tissue disorders.

The Journal Of Allergy And Clinical Immunology

Abonia, J Pablo JP; Wen, Ting T; Stucke, Emily M EM; Grotjan, Tommie T; Griffith, Molly S MS; Kemme, Katherine A KA; Collins, Margaret H MH; Putnam, Philip E PE; Franciosi, James P JP; von Tiehl, Karl F KF; Tinkle, Brad T BT; Marsolo, Keith A KA; Martin, Lisa J LJ; Ware, Stephanie M SM; Rothenberg, Marc E ME

Publication Date: 2013-08

Variant appearance in text: FBN1: 2956G>A; Ala986Thr

PubMed Link: 23608731

Variant Present in the following documents:

• Main text

View BVdb publication page

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