Publications:

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: TMEM216: 218G>T; Arg73Leu

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Joubert syndrome: Molecular basis and treatment.

Journal Of Mother And Child

Spahiu, Lidvana L; Behluli, Emir E; Grajçevci-Uka, Violeta V; Liehr, Thomas T; Temaj, Gazmend G

Publication Date: 2022-03-01

Variant appearance in text: TMEM216: R73L

PubMed Link: 36803942

Variant Present in the following documents:

• Main text
• jmotherandchild-26-1-jmotherandchild.20222601.d-22-00034.pdf

View BVdb publication page

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Genome-wide data from medieval German Jews show that the Ashkenazi founder event pre-dated the 14th century.

Cell

Waldman, Shamam S; Backenroth, Daniel D; Harney, Éadaoin É; Flohr, Stefan S; Neff, Nadia C NC; Buckley, Gina M GM; Fridman, Hila H; Akbari, Ali A; Rohland, Nadin N; Mallick, Swapan S; Olalde, Iñigo I; Cooper, Leo L; Lomes, Ariel A; Lipson, Joshua J; Cano Nistal, Jorge J; Yu, Jin J; Barzilai, Nir N; Peter, Inga I; Atzmon, Gil G; Ostrer, Harry H; Lencz, Todd T; Maruvka, Yosef E YE; Lämmerhirt, Maike M; Beider, Alexander A; Rutgers, Leonard V LV; Renson, Virginie V; Prufer, Keith M KM; Schiffels, Stephan S; Ringbauer, Harald H; Sczech, Karin K; Carmi, Shai S; Reich, David D

Publication Date: 2022-11-22

Variant appearance in text: TMEM216: R73L; rs201108965

PubMed Link: 36455558

Variant Present in the following documents:

• NIHMS1852590-supplement-MMC2.xlsx, sheet 6

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: TMEM216: R73L; rs201108965

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7
• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9

View BVdb publication page

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Genetic ancestry analysis on >93,000 individuals undergoing expanded carrier screening reveals limitations of ethnicity-based medical guidelines.

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

Kaseniit, Kristjan E KE; Haque, Imran S IS; Goldberg, James D JD; Shulman, Lee P LP; Muzzey, Dale D

Publication Date: 2020-10

Variant appearance in text: TMEM216: 218G>T

PubMed Link: 32595206

Variant Present in the following documents:

• 41436_2020_869_MOESM2_ESM.xlsx, sheet 7

View BVdb publication page

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Targeted capture enrichment followed by NGS: development and validation of a single comprehensive NIPT for chromosomal aneuploidies, microdeletion syndromes and monogenic diseases.

Molecular Cytogenetics

Koumbaris, George G; Achilleos, Achilleas A; Nicolaou, Michalis M; Loizides, Charalambos C; Tsangaras, Kyriakos K; Kypri, Elena E; Mina, Petros P; Sismani, Carolina C; Velissariou, Voula V; Christopoulou, Georgia G; Constantoulakis, Pantelis P; Manolakos, Emmanouil E; Papoulidis, Ioannis I; Stambouli, Danai D; Ioannides, Marios M; Patsalis, Philippos P

Publication Date: 2019

Variant appearance in text: TMEM216: 218G>T; Arg73Leu

PubMed Link: 31832098

Variant Present in the following documents:

• 13039_2019_459_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Healthcare recommendations for Joubert syndrome.

American Journal Of Medical Genetics. Part A

Bachmann-Gagescu, Ruxandra R; Dempsey, Jennifer C JC; Bulgheroni, Sara S; Chen, Maida L ML; D'Arrigo, Stefano S; Glass, Ian A IA; Heller, Theo T; Héon, Elise E; Hildebrandt, Friedhelm F; Joshi, Nirmal N; Knutzen, Dana D; Kroes, Hester Y HY; Mack, Stephen H SH; Nuovo, Sara S; Parisi, Melissa A MA; Snow, Joseph J; Summers, Angela C AC; Symons, Jordan M JM; Zein, Wadih M WM; Boltshauser, Eugen E; Sayer, John A JA; Gunay-Aygun, Meral M; Valente, Enza Maria EM; Doherty, Dan D

Publication Date: 2020-01

Variant appearance in text: TMEM216: R73L

PubMed Link: 31710777

Variant Present in the following documents:

• Main text

View BVdb publication page

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An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation

Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,

Publication Date: 2019-01-01

Variant appearance in text: TMEM216: 218G>T; Arg73Leu

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

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DeepPVP: phenotype-based prioritization of causative variants using deep learning.

Bmc Bioinformatics

Boudellioua, Imane I; Kulmanov, Maxat M; Schofield, Paul N PN; Gkoutos, Georgios V GV; Hoehndorf, Robert R

Publication Date: 2019-02-06

Variant appearance in text: rs201108965

PubMed Link: 30727941

Variant Present in the following documents:

• Main text
• 12859_2019_Article_2633.pdf

View BVdb publication page

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Review of Ocular Manifestations of Joubert Syndrome.

Genes

Wang, Stephanie F SF; Kowal, Tia J TJ; Ning, Ke K; Koo, Euna B EB; Wu, Albert Y AY; Mahajan, Vinit B VB; Sun, Yang Y

Publication Date: 2018-12-04

Variant appearance in text: TMEM216: R73L

PubMed Link: 30518138

Variant Present in the following documents:

• Main text
• genes-09-00605.pdf

View BVdb publication page

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Meckel-Gruber Syndrome: An Update on Diagnosis, Clinical Management, and Research Advances.

Frontiers In Pediatrics

Hartill, Verity V; Szymanska, Katarzyna K; Sharif, Saghira Malik SM; Wheway, Gabrielle G; Johnson, Colin A CA

Publication Date: 2017

Variant appearance in text: CORS2: 218G>T

PubMed Link: 29209597

Variant Present in the following documents:

• Main text

View BVdb publication page

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Interpreting the clinical significance of combined variants in multiple recessive disease genes: systematic investigation of Joubert syndrome yields little support for oligogenicity.

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

Phelps, Ian G IG; Dempsey, Jennifer C JC; Grout, Megan E ME; Isabella, Christine R CR; Tully, Hannah M HM; Doherty, Dan D; Bachmann-Gagescu, Ruxandra R

Publication Date: 2018-02

Variant appearance in text: TMEM216: R73L

PubMed Link: 28771248

Variant Present in the following documents:

• NIHMS885103-supplement-Supplementary___Appendix__online_only_material__etc___3.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: TMEM216: 218G>T; Arg73Leu

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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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: TMEM216: R73L

PubMed Link: 27377421

Variant Present in the following documents:

• ncomms12072-s6.xlsx, sheet 1

View BVdb publication page

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Expanding preconception carrier screening for the Jewish population using high throughput microfluidics technology and next generation sequencing.

Bmc Medical Genomics

Gal, Moran M; Khermesh, Khen K; Barak, Michal M; Lin, Min M; Lahat, Hadas H; Reznik Wolf, Haike H; Lin, Michael M; Pras, Elon E; Levanon, Erez Y EY

Publication Date: 2016-05-13

Variant appearance in text: TMEM216: R73L

PubMed Link: 27175728

Variant Present in the following documents:

• 12920_2016_184_MOESM1_ESM.xls, sheet 1
• 12920_2016_Article_184.pdf

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: TMEM216: R73L

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

View BVdb publication page

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Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.

Journal Of Medical Genetics

Bachmann-Gagescu, R R; Dempsey, J C JC; Phelps, I G IG; O'Roak, B J BJ; Knutzen, D M DM; Rue, T C TC; Ishak, G E GE; Isabella, C R CR; Gorden, N N; Adkins, J J; Boyle, E A EA; de Lacy, N N; O'Day, D D; Alswaid, A A; Ramadevi A, Radha R; Lingappa, L L; Lourenço, C C; Martorell, L L; Garcia-Cazorla, À À; Ozyürek, H H; Haliloğlu, G G; Tuysuz, B B; Topçu, M M; , ; Chance, P P; Parisi, M A MA; Glass, I A IA; Shendure, J J; Doherty, D D

Publication Date: 2015-08

Variant appearance in text: TMEM216: R73L

PubMed Link: 26092869

Variant Present in the following documents:

• Main text

View BVdb publication page

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Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins.

Nature Communications

Carmi, Shai S; Hui, Ken Y KY; Kochav, Ethan E; Liu, Xinmin X; Xue, James J; Grady, Fillan F; Guha, Saurav S; Upadhyay, Kinnari K; Ben-Avraham, Dan D; Mukherjee, Semanti S; Bowen, B Monica BM; Thomas, Tinu T; Vijai, Joseph J; Cruts, Marc M; Froyen, Guy G; Lambrechts, Diether D; Plaisance, Stéphane S; Van Broeckhoven, Christine C; Van Damme, Philip P; Van Marck, Herwig H; Barzilai, Nir N; Darvasi, Ariel A; Offit, Kenneth K; Bressman, Susan S; Ozelius, Laurie J LJ; Peter, Inga I; Cho, Judy H JH; Ostrer, Harry H; Atzmon, Gil G; Clark, Lorraine N LN; Lencz, Todd T; Pe'er, Itsik I

Publication Date: 2014-09-09

Variant appearance in text: TMEM216: R73L; rs201108965

PubMed Link: 25203624

Variant Present in the following documents:

• ncomms5835-s5.xlsx, sheet 1

View BVdb publication page

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Joubert syndrome: congenital cerebellar ataxia with the molar tooth.

The Lancet. Neurology

Romani, Marta M; Micalizzi, Alessia A; Valente, Enza Maria EM

Publication Date: 2013-09

Variant appearance in text: TMEM216: R73L

PubMed Link: 23870701

Variant Present in the following documents:

• Main text

View BVdb publication page

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Clinical utility gene card for: Joubert syndrome--update 2013.

European Journal Of Human Genetics : Ejhg

Valente, Enza Maria EM; Brancati, Francesco F; Boltshauser, Eugen E; Dallapiccola, Bruno B

Publication Date: 2013-10

Variant appearance in text: TMEM216: R73L

PubMed Link: 23403901

Variant Present in the following documents:

• Main text

View BVdb publication page

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Founder mutations and genotype-phenotype correlations in Meckel-Gruber syndrome and associated ciliopathies.

Cilia

Szymanska, Katarzyna K; Berry, Ian I; Logan, Clare V CV; Cousins, Simon Rr SR; Lindsay, Helen H; Jafri, Hussain H; Raashid, Yasmin Y; Malik-Sharif, Saghira S; Castle, Bruce B; Ahmed, Mushtag M; Bennett, Chris C; Carlton, Ruth R; Johnson, Colin A CA

Publication Date: 2012-10-01

Variant appearance in text: JBTS2: R73L

PubMed Link: 23351400

Variant Present in the following documents:

• Main text
• 2046-2530-1-18.pdf

View BVdb publication page

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The population genetics of the Jewish people.

Human Genetics

Ostrer, Harry H; Skorecki, Karl K

Publication Date: 2013-02

Variant appearance in text: TMEM216: R73L

PubMed Link: 23052947

Variant Present in the following documents:

• 439_2012_1235_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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Evolutionarily assembled cis-regulatory module at a human ciliopathy locus.

Science (New York, N.Y.)

Lee, Jeong Ho JH; Silhavy, Jennifer L JL; Lee, Ji Eun JE; Al-Gazali, Lihadh L; Thomas, Sophie S; Davis, Erica E EE; Bielas, Stephanie L SL; Hill, Kiley J KJ; Iannicelli, Miriam M; Brancati, Francesco F; Gabriel, Stacey B SB; Russ, Carsten C; Logan, Clare V CV; Sharif, Saghira Malik SM; Bennett, Christopher P CP; Abe, Masumi M; Hildebrandt, Friedhelm F; Diplas, Bill H BH; Attié-Bitach, Tania T; Katsanis, Nicholas N; Rajab, Anna A; Koul, Roshan R; Sztriha, Laszlo L; Waters, Elizabeth R ER; Ferro-Novick, Susan S; Woods, C Geoffrey CG; Johnson, Colin A CA; Valente, Enza Maria EM; Zaki, Maha S MS; Gleeson, Joseph G JG

Publication Date: 2012-02-24

Variant appearance in text: TMEM216: R73L

PubMed Link: 22282472

Variant Present in the following documents:

• Main text

View BVdb publication page

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Clinical utility gene card for: Joubert syndrome.

European Journal Of Human Genetics : Ejhg

Valente, Enza Maria EM; Brancati, Francesco F; Boltshauser, Eugen E; Dallapiccola, Bruno B

Publication Date: 2011-09

Variant appearance in text: TMEM216: R73L

PubMed Link: 21448235

Variant Present in the following documents:

• Main text

View BVdb publication page

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Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes.

Nature Genetics

Valente, Enza Maria EM; Logan, Clare V CV; Mougou-Zerelli, Soumaya S; Lee, Jeong Ho JH; Silhavy, Jennifer L JL; Brancati, Francesco F; Iannicelli, Miriam M; Travaglini, Lorena L; Romani, Sveva S; Illi, Barbara B; Adams, Matthew M; Szymanska, Katarzyna K; Mazzotta, Annalisa A; Lee, Ji Eun JE; Tolentino, Jerlyn C JC; Swistun, Dominika D; Salpietro, Carmelo D CD; Fede, Carmelo C; Gabriel, Stacey S; Russ, Carsten C; Cibulskis, Kristian K; Sougnez, Carrie C; Hildebrandt, Friedhelm F; Otto, Edgar A EA; Held, Susanne S; Diplas, Bill H BH; Davis, Erica E EE; Mikula, Mario M; Strom, Charles M CM; Ben-Zeev, Bruria B; Lev, Dorit D; Sagie, Tally Lerman TL; Michelson, Marina M; Yaron, Yuval Y; Krause, Amanda A; Boltshauser, Eugen E; Elkhartoufi, Nadia N; Roume, Joelle J; Shalev, Stavit S; Munnich, Arnold A; Saunier, Sophie S; Inglehearn, Chris C; Saad, Ali A; Alkindy, Adila A; Thomas, Sophie S; Vekemans, Michel M; Dallapiccola, Bruno B; Katsanis, Nicholas N; Johnson, Colin A CA; Attié-Bitach, Tania T; Gleeson, Joseph G JG

Publication Date: 2010-07

Variant appearance in text: TMEM216: 218G>T

PubMed Link: 20512146

Variant Present in the following documents:

• Main text
• NIHMS30246-supplement-1.pdf
• ukmss-30246.pdf

View BVdb publication page

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