Publications:

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Diverse monogenic subforms of human spermatogenic failure.

Nature Communications

Nagirnaja, Liina L; Lopes, Alexandra M AM; Charng, Wu-Lin WL; Miller, Brian B; Stakaitis, Rytis R; Golubickaite, Ieva I; Stendahl, Alexandra A; Luan, Tianpengcheng T; Friedrich, Corinna C; Mahyari, Eisa E; Fadial, Eloise E; Kasak, Laura L; Vigh-Conrad, Katinka K; Oud, Manon S MS; Xavier, Miguel J MJ; Cheers, Samuel R SR; James, Emma R ER; Guo, Jingtao J; Jenkins, Timothy G TG; Riera-Escamilla, Antoni A; Barros, Alberto A; Carvalho, Filipa F; Fernandes, Susana S; Gonçalves, João J; Gurnett, Christina A CA; Jørgensen, Niels N; Jezek, Davor D; Jungheim, Emily S ES; Kliesch, Sabine S; McLachlan, Robert I RI; Omurtag, Kenan R KR; Pilatz, Adrian A; Sandlow, Jay I JI; Smith, James J; Eisenberg, Michael L ML; Hotaling, James M JM; Jarvi, Keith A KA; Punab, Margus M; Rajpert-De Meyts, Ewa E; Carrell, Douglas T DT; Krausz, Csilla C; Laan, Maris M; O'Bryan, Moira K MK; Schlegel, Peter N PN; Tüttelmann, Frank F; Veltman, Joris A JA; Almstrup, Kristian K; Aston, Kenneth I KI; Conrad, Donald F DF

Publication Date: 2022-12-26

Variant appearance in text: MKKS: 724G>T; Ala242Ser; rs74315394

PubMed Link: 36572685

Variant Present in the following documents:

• 41467_2022_35661_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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Allelic overload and its clinical modifier effect in Bardet-Biedl syndrome.

Npj Genomic Medicine

Perea-Romero, Irene I; Solarat, Carlos C; Blanco-Kelly, Fiona F; Sanchez-Navarro, Iker I; Bea-Mascato, Brais B; Martin-Salazar, Eduardo E; Lorda-Sanchez, Isabel I; Swafiri, Saoud Tahsin ST; Avila-Fernandez, Almudena A; Martin-Merida, Inmaculada I; Trujillo-Tiebas, Maria Jose MJ; Carreño, Ester E; Jimenez-Rolando, Belen B; Garcia-Sandoval, Blanca B; Minguez, Pablo P; Corton, Marta M; Valverde, Diana D; Ayuso, Carmen C

Publication Date: 2022-07-14

Variant appearance in text: MKKS: Ala242Ser

PubMed Link: 35835773

Variant Present in the following documents:

• Main text
• 41525_2022_311_MOESM2_ESM.xlsx, sheet 1
• 41525_2022_Article_311.pdf
• 41525_2022_311_MOESM3_ESM.xlsx, sheet 1

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: MKKS: A242S; rs74315394

PubMed Link: 35115730

Variant Present in the following documents:

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

View BVdb publication page

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A renal cell carcinoma tumorgraft platform to advance precision medicine.

Cell Reports

Elias, Roy R; Tcheuyap, Vanina T VT; Kaushik, Akash K AK; Singla, Nirmish N; Gao, Ming M; Reig Torras, Oscar O; Christie, Alana A; Mulgaonkar, Aditi A; Woolford, Layton L; Stevens, Christina C; Kettimuthu, Kavitha Priya KP; Pavia-Jimenez, Andrea A; Boroughs, Lindsey K LK; Joyce, Allison A; Dakanali, Marianna M; Notgrass, Hollis H; Margulis, Vitaly V; Cadeddu, Jeffrey A JA; Pedrosa, Ivan I; Williams, Noelle S NS; Sun, Xiankai X; DeBerardinis, Ralph J RJ; Öz, Orhan K OK; Zhong, Hua H; Seshagiri, Somasekar S; Modrusan, Zora Z; Cantarel, Brandi L BL; Kapur, Payal P; Brugarolas, James J

Publication Date: 2021-11-23

Variant appearance in text: MKKS: 724G>T; A242S; rs74315394

PubMed Link: 34818533

Variant Present in the following documents:

• NIHMS1761779-supplement-Table_S8.xlsx, sheet 1

View BVdb publication page

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A renal cell carcinoma tumorgraft platform to advance precision medicine.

Cell Reports

Elias, Roy R; Tcheuyap, Vanina T VT; Kaushik, Akash K AK; Singla, Nirmish N; Gao, Ming M; Reig Torras, Oscar O; Christie, Alana A; Mulgaonkar, Aditi A; Woolford, Layton L; Stevens, Christina C; Kettimuthu, Kavitha Priya KP; Pavia-Jimenez, Andrea A; Boroughs, Lindsey K LK; Joyce, Allison A; Dakanali, Marianna M; Notgrass, Hollis H; Margulis, Vitaly V; Cadeddu, Jeffrey A JA; Pedrosa, Ivan I; Williams, Noelle S NS; Sun, Xiankai X; DeBerardinis, Ralph J RJ; Öz, Orhan K OK; Zhong, Hua H; Seshagiri, Somasekar S; Modrusan, Zora Z; Cantarel, Brandi L BL; Kapur, Payal P; Brugarolas, James J

Publication Date: 2021-11-23

Variant appearance in text: MKKS: 724G>T; A242S; rs74315394

PubMed Link: 34818533

Variant Present in the following documents:

• NIHMS1761779-supplement-Table_S8.xlsx, sheet 1

View BVdb publication page

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Identification of Genetic Variants in 65 Obesity Related Genes in a Cohort of Portuguese Obese Individuals.

Genes

Ginete, Catarina C; Serrasqueiro, Bernardo B; Silva-Nunes, José J; Veiga, Luísa L; Brito, Miguel M

Publication Date: 2021-04-19

Variant appearance in text: MKKS: 724G>T; Ala242Ser; rs74315394

PubMed Link: 33921825

Variant Present in the following documents:

• Main text

View BVdb publication page

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Exome Sequencing of 21 Bardet-Biedl Syndrome (BBS) Genes to Identify Obesity Variants in 6,851 American Indians.

Obesity (Silver Spring, Md.)

Day, Samantha E SE; Muller, Yunhua L YL; Koroglu, Cigdem C; Kobes, Sayuko S; Wiedrich, Kim K; Mahkee, Darin D; Kim, Hye In HI; Van Hout, Cris C; Gosalia, Nehal N; Ye, Bin B; , ; Shuldiner, Alan R AR; Knowler, William C WC; Hanson, Robert L RL; Bogardus, Clifton C; Baier, Leslie J LJ

Publication Date: 2021-04

Variant appearance in text: MKKS: A242S; rs74315394

PubMed Link: 33616283

Variant Present in the following documents:

• OBY-29-748-s001.xlsx, sheet 1

View BVdb publication page

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Divergent Roles of PI3K Isoforms in PTEN-Deficient Glioblastomas.

Cell Reports

Xie, Shaozhen S; Ni, Jing J; McFaline-Figueroa, J Ricardo JR; Wang, Yanzhi Y; Bronson, Roderick T RT; Ligon, Keith L KL; Wen, Patrick Y PY; Roberts, Thomas M TM; Zhao, Jean J JJ

Publication Date: 2020-09-29

Variant appearance in text: MKKS: A242S

PubMed Link: 32997991

Variant Present in the following documents:

• NIHMS1633676-supplement-2.xlsx, sheet 1

View BVdb publication page

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Exome Sequencing in BRCA1- and BRCA2-Negative Greek Families Identifies MDM1 and NBEAL1 as Candidate Risk Genes for Hereditary Breast Cancer.

Frontiers In Genetics

Glentis, Stavros S; Dimopoulos, Alexandros C AC; Rouskas, Konstantinos K; Ntritsos, George G; Evangelou, Evangelos E; Narod, Steven A SA; Mes-Masson, Anne-Marie AM; Foulkes, William D WD; Rivera, Barbara B; Tonin, Patricia N PN; Ragoussis, Jiannis J; Dimas, Antigone S AS

Publication Date: 2019

Variant appearance in text: MKKS: A242S; rs74315394

PubMed Link: 31681433

Variant Present in the following documents:

• DataSheet_1.xlsx, sheet 10

View BVdb publication page

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Development of a Novel Next-Generation Sequencing Assay for Carrier Screening in Old Order Amish and Mennonite Populations of Pennsylvania.

The Journal Of Molecular Diagnostics : Jmd

Crowgey, Erin L EL; Washburn, Michael C MC; Kolb, E Anders EA; Puffenberger, Erik G EG

Publication Date: 2019-07

Variant appearance in text: MKKS: 724G>T; Ala242Ser

PubMed Link: 31028937

Variant Present in the following documents:

• Main text
• mmc1.xlsx, sheet 1
• main.pdf

View BVdb publication page

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Bridging human chaperonopathies and microbial chaperonins.

Communications Biology

Conway de Macario, Everly E; Yohda, Masafumi M; Macario, Alberto J L AJL; Robb, Frank T FT

Publication Date: 2019

Variant appearance in text: MKKS: A242S

PubMed Link: 30911678

Variant Present in the following documents:

• Main text
• 42003_2019_Article_318.pdf

View BVdb publication page

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Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: MKKS: A242S; rs74315394

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Whole-exon sequencing of human myeloma cell lines shows mutations related to myeloma patients at relapse with major hits in the DNA regulation and repair pathways.

Journal Of Hematology & Oncology

Tessoulin, Benoît B; Moreau-Aubry, Agnès A; Descamps, Géraldine G; Gomez-Bougie, Patricia P; Maïga, Sophie S; Gaignard, Alban A; Chiron, David D; Ménoret, Emmanuelle E; Le Gouill, Steven S; Moreau, Philippe P; Amiot, Martine M; Pellat-Deceunynck, Catherine C

Publication Date: 2018-12-13

Variant appearance in text: MKKS: 724G>T; Ala242Ser; rs74315394

PubMed Link: 30545397

Variant Present in the following documents:

• 13045_2018_679_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies.

Scientific Reports

Sanchez-Navarro, Iker I; R J da Silva, Luciana L; Blanco-Kelly, Fiona F; Zurita, Olga O; Sanchez-Bolivar, Noelia N; Villaverde, Cristina C; Lopez-Molina, Maria Isabel MI; Garcia-Sandoval, Blanca B; Tahsin-Swafiri, Saoud S; Minguez, Pablo P; Riveiro-Alvarez, Rosa R; Lorda, Isabel I; Sanchez-Alcudia, Rocío R; Perez-Carro, Raquel R; Valverde, Diana D; Liu, Yichuan Y; Tian, Lifeng L; Hakonarson, Hakon H; Avila-Fernandez, Almudena A; Corton, Marta M; Ayuso, Carmen C

Publication Date: 2018-03-27

Variant appearance in text: MKKS: 724G>T; Ala242Ser

PubMed Link: 29588463

Variant Present in the following documents:

• Main text
• 41598_2018_23520_MOESM1_ESM.pdf
• 41598_2018_Article_23520.pdf

View BVdb publication page

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2017 Curt Stern Award: The Complexity of Simple Genetics.

American Journal Of Human Genetics

Katsanis, Nicholas N

Publication Date: 2018-03-01

Variant appearance in text: MKKS: Ala242Ser

PubMed Link: 29499161

Variant Present in the following documents:

• Main text

View BVdb publication page

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Exome Pool-Seq in neurodevelopmental disorders.

European Journal Of Human Genetics : Ejhg

Popp, Bernt B; Ekici, Arif B AB; Thiel, Christian T CT; Hoyer, Juliane J; Wiesener, Antje A; Kraus, Cornelia C; Reis, André A; Zweier, Christiane C

Publication Date: 2017-12

Variant appearance in text: MKKS: 724G>T; Ala242Ser; rs74315394

PubMed Link: 29158550

Variant Present in the following documents:

• 41431_2017_22_MOESM6_ESM.xlsx, sheet 6

View BVdb publication page

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Nuclear/cytoplasmic transport defects in BBS6 underlie congenital heart disease through perturbation of a chromatin remodeling protein.

Plos Genetics

Scott, Charles Anthony CA; Marsden, Autumn N AN; Rebagliati, Michael R MR; Zhang, Qihong Q; Chamling, Xitiz X; Searby, Charles C CC; Baye, Lisa M LM; Sheffield, Val C VC; Slusarski, Diane C DC

Publication Date: 2017-07

Variant appearance in text: BBS6: A242S

PubMed Link: 28753627

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: MKKS: A242S; rs74315394

PubMed Link: 28440294

Variant Present in the following documents:

• srep46105-s2.xls, sheet 8

View BVdb publication page

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Determinants of Advanced Bone Age in Childhood Obesity
.

Hormone Research In Paediatrics

de Groot, Cornelis J CJ; van den Berg, Adriaan A; Ballieux, Bart E P B BEPB; Kroon, Herman M HM; Rings, Edmond H H M EHHM; Wit, Jan M JM; van den Akker, Erica L T ELT

Publication Date: 2017

Variant appearance in text: MKKS: Ala242Ser

PubMed Link: 28365712

Variant Present in the following documents:

• Main text

View BVdb publication page

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Prokaryotic Chaperonins as Experimental Models for Elucidating Structure-Function Abnormalities of Human Pathogenic Mutant Counterparts.

Frontiers In Molecular Biosciences

Conway de Macario, Everly E; Robb, Frank T FT; Macario, Alberto J L AJ

Publication Date: 2016

Variant appearance in text: MKKS: A242S

PubMed Link: 28119916

Variant Present in the following documents:

• Main text
• fmolb-03-00084.pdf

View BVdb publication page

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Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies.

Scientific Reports

Tiwari, Amit A; Bahr, Angela A; Bähr, Luzy L; Fleischhauer, Johannes J; Zinkernagel, Martin S MS; Winkler, Niklas N; Barthelmes, Daniel D; Berger, Lieselotte L; Gerth-Kahlert, Christina C; Neidhardt, John J; Berger, Wolfgang W

Publication Date: 2016-06-29

Variant appearance in text: MKKS: 724G>T; Ala242Ser

PubMed Link: 27353947

Variant Present in the following documents:

• srep28755-s1.pdf

View BVdb publication page

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Whole-genome sequencing in multiplex families with psychoses reveals mutations in the SHANK2 and SMARCA1 genes segregating with illness.

Molecular Psychiatry

Homann, O R OR; Misura, K K; Lamas, E E; Sandrock, R W RW; Nelson, P P; McDonough, S I SI; DeLisi, L E LE

Publication Date: 2016-12

Variant appearance in text: MKKS: A242S; rs74315394

PubMed Link: 27001614

Variant Present in the following documents:

• NIHMS753666-supplement-2.xlsx, sheet 4
• NIHMS753666-supplement-2.xlsx, sheet 5

View BVdb publication page

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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: MKKS: A242S; rs74315394

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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: MKKS: A242S

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

View BVdb publication page

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Population genomic analysis of 962 whole genome sequences of humans reveals natural selection in non-coding regions.

Plos One

Yu, Fuli F; Lu, Jian J; Liu, Xiaoming X; Gazave, Elodie E; Chang, Diana D; Raj, Srilakshmi S; Hunter-Zinck, Haley H; Blekhman, Ran R; Arbiza, Leonardo L; Van Hout, Cris C; Morrison, Alanna A; Johnson, Andrew D AD; Bis, Joshua J; Cupples, L Adrienne LA; Psaty, Bruce M BM; Muzny, Donna D; Yu, Jin J; Gibbs, Richard A RA; Keinan, Alon A; Clark, Andrew G AG; Boerwinkle, Eric E

Publication Date: 2015

Variant appearance in text: rs74315394

PubMed Link: 25807536

Variant Present in the following documents:

• pone.0121644.s002.xls, sheet 1

View BVdb publication page

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VaRank: a simple and powerful tool for ranking genetic variants.

Peerj

Geoffroy, Véronique V; Pizot, Cécile C; Redin, Claire C; Piton, Amélie A; Vasli, Nasim N; Stoetzel, Corinne C; Blavier, André A; Laporte, Jocelyn J; Muller, Jean J

Publication Date: 2015

Variant appearance in text: MKKS: A242S

PubMed Link: 25780760

Variant Present in the following documents:

• peerj-03-796.pdf

View BVdb publication page

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De novo mutations in moderate or severe intellectual disability.

Plos Genetics

Hamdan, Fadi F FF; Srour, Myriam M; Capo-Chichi, Jose-Mario JM; Daoud, Hussein H; Nassif, Christina C; Patry, Lysanne L; Massicotte, Christine C; Ambalavanan, Amirthagowri A; Spiegelman, Dan D; Diallo, Ousmane O; Henrion, Edouard E; Dionne-Laporte, Alexandre A; Fougerat, Anne A; Pshezhetsky, Alexey V AV; Venkateswaran, Sunita S; Rouleau, Guy A GA; Michaud, Jacques L JL

Publication Date: 2014-10

Variant appearance in text: MKKS: A242S

PubMed Link: 25356899

Variant Present in the following documents:

• pgen.1004772.s004.xlsx, sheet 27

View BVdb publication page

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Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencing.

Plos One

Watson, Christopher M CM; El-Asrag, Mohammed M; Parry, David A DA; Morgan, Joanne E JE; Logan, Clare V CV; Carr, Ian M IM; Sheridan, Eamonn E; Charlton, Ruth R; Johnson, Colin A CA; Taylor, Graham G; Toomes, Carmel C; McKibbin, Martin M; Inglehearn, Chris F CF; Ali, Manir M

Publication Date: 2014

Variant appearance in text: MKKS: 724G>T; Ala242Ser

PubMed Link: 25133751

Variant Present in the following documents:

• pone.0104281.s001.pdf

View BVdb publication page

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Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromes.

Journal Of Medical Genetics

Redin, Claire C; Le Gras, Stéphanie S; Mhamdi, Oussema O; Geoffroy, Véronique V; Stoetzel, Corinne C; Vincent, Marie-Claire MC; Chiurazzi, Pietro P; Lacombe, Didier D; Ouertani, Ines I; Petit, Florence F; Till, Marianne M; Verloes, Alain A; Jost, Bernard B; Chaabouni, Habiba Bouhamed HB; Dollfus, Helene H; Mandel, Jean-Louis JL; Muller, Jean J

Publication Date: 2012-08

Variant appearance in text: MKKS: A242S

PubMed Link: 22773737

Variant Present in the following documents:

• Main text

View BVdb publication page

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Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesis.

The Journal Of Clinical Investigation

Rachel, Rivka A RA; May-Simera, Helen L HL; Veleri, Shobi S; Gotoh, Norimoto N; Choi, Byung Yoon BY; Murga-Zamalloa, Carlos C; McIntyre, Jeremy C JC; Marek, Jonah J; Lopez, Irma I; Hackett, Alice N AN; Zhang, Jun J; Brooks, Matthew M; den Hollander, Anneke I AI; Beales, Philip L PL; Li, Tiansen T; Jacobson, Samuel G SG; Sood, Raman R; Martens, Jeffrey R JR; Liu, Paul P; Friedman, Thomas B TB; Khanna, Hemant H; Koenekoop, Robert K RK; Kelley, Matthew W MW; Swaroop, Anand A

Publication Date: 2012-04

Variant appearance in text: MKKS: A242S

PubMed Link: 22446187

Variant Present in the following documents:

• Main text

View BVdb publication page

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McKusick-Kaufman or Bardet-Biedl syndrome? A new borderline case in an Italian nonconsanguineous healthy family.

Indian Journal Of Human Genetics

Chetta, Massimiliano M; Bukvic, Nenad N; Bafunno, Valeria V; Sarno, Michelina M; Magaldi, Rosario R; Grilli, Gianpaolo G; Bertozzi, Vincenzo V; Perfetto, Francesco F; Margaglione, Maurizio M

Publication Date: 2011-05

Variant appearance in text: MKKS: A242S

PubMed Link: 22090721

Variant Present in the following documents:

• Main text
• IJHG-17-94.pdf

View BVdb publication page

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Polydactyly: how many disorders and how many genes? 2010 update.

Developmental Dynamics : An Official Publication Of The American Association Of Anatomists

Biesecker, Leslie G LG

Publication Date: 2011-05

Variant appearance in text: MKKS: Ala242Ser

PubMed Link: 21445961

Variant Present in the following documents:

• Main text

View BVdb publication page

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Arrayed primer extension technology simplifies mutation detection in Bardet-Biedl and Alström syndrome.

European Journal Of Human Genetics : Ejhg

Pereiro, Ines I; Hoskins, Bethan E BE; Marshall, Jan D JD; Collin, Gayle B GB; Naggert, Jürgen K JK; Piñeiro-Gallego, Teresa T; Oitmaa, Eneli E; Katsanis, Nicholas N; Valverde, Diana D; Beales, Philip L PL

Publication Date: 2011-04

Variant appearance in text: BBS6: A242S

PubMed Link: 21157496

Variant Present in the following documents:

• Main text

View BVdb publication page

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Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Zaghloul, Norann A NA; Liu, Yangjian Y; Gerdes, Jantje M JM; Gascue, Cecilia C; Oh, Edwin C EC; Leitch, Carmen C CC; Bromberg, Yana Y; Binkley, Jonathan J; Leibel, Rudolph L RL; Sidow, Arend A; Badano, Jose L JL; Katsanis, Nicholas N

Publication Date: 2010-06-08

Variant appearance in text: BBS6: A242S

PubMed Link: 20498079

Variant Present in the following documents:

• Main text

View BVdb publication page

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MKKS is a centrosome-shuttling protein degraded by disease-causing mutations via CHIP-mediated ubiquitination.

Molecular Biology Of The Cell

Hirayama, Shoshiro S; Yamazaki, Yuji Y; Kitamura, Akira A; Oda, Yukako Y; Morito, Daisuke D; Okawa, Katsuya K; Kimura, Hiroshi H; Cyr, Douglas M DM; Kubota, Hiroshi H; Nagata, Kazuhiro K

Publication Date: 2008-03

Variant appearance in text: MKKS: A242S

PubMed Link: 18094050

Variant Present in the following documents:

• Main text

View BVdb publication page

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Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort study.

American Journal Of Medical Genetics. Part A

Moore, Susan J SJ; Green, Jane S JS; Fan, Yanli Y; Bhogal, Ashvinder K AK; Dicks, Elizabeth E; Fernandez, Bridget A BA; Stefanelli, Mark M; Murphy, Christopher C; Cramer, Benvon C BC; Dean, John C S JC; Beales, Philip L PL; Katsanis, Nicholas N; Bassett, Anne S AS; Davidson, William S WS; Parfrey, Patrick S PS

Publication Date: 2005-02-01

Variant appearance in text: BBS6: A242S

PubMed Link: 15637713

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic and mutational analyses of a large multiethnic Bardet-Biedl cohort reveal a minor involvement of BBS6 and delineate the critical intervals of other loci.

American Journal Of Human Genetics

Beales, P L PL; Katsanis, N N; Lewis, R A RA; Ansley, S J SJ; Elcioglu, N N; Raza, J J; Woods, M O MO; Green, J S JS; Parfrey, P S PS; Davidson, W S WS; Lupski, J R JR

Publication Date: 2001-03

Variant appearance in text: BBS6: A242S

PubMed Link: 11179009

Variant Present in the following documents:

• Main text

View BVdb publication page

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