Phenotypic Variability of c.436delC DCAF17 Gene Mutation in Woodhouse-Sakati Syndrome

Por Almeqdadi, Mohammad, Kemppainen, Jennifer L., Pichurin, Pavel N., Gavrilova, Ralitza H.
Publicado no Am J Case Rep (2018)

The thyrotropin receptor autoantigen in Graves disease is the culprit as well as the victim

Por Chen, Chun-Rong, Pichurin, Pavel, Nagayama, Yuji, Latrofa, Francesco, Rapoport, Basil, McLachlan, Sandra M.
Publicado em 2003

Cushing syndrome: uncovering Carney complex due to novel PRKAR1A mutation

Por Zhang, Catherine D, Pichurin, Pavel N, Bobr, Aleh, Lyden, Melanie L, Young, William F, Bancos, Irina
Publicado no Endocrinol Diabetes Metab Case Rep (2019)

Pathogenic Variant in ACTB, p.Arg183Trp, Causes Juvenile-Onset Dystonia, Hearing Loss, and Developmental Delay without Midline Malformation

Por Conboy, Erin, Vairo, Filippo, Waggoner, Darrel, Ober, Carole, Das, Soma, Dhamija, Radhika, Klee, Eric W., Pichurin, Pavel
Publicado no Case Rep Genet (2017)

Adrenal Cortical Carcinoma Associated With Lynch Syndrome: A Case Report and Review of Literature

Por Kaur, Ravinder Jeet, Pichurin, Pavel N, Hines, Jolaine M, Singh, Ravinder J, Grebe, Stefan K, Bancos, Irina
Publicado no J Endocr Soc (2019)

Shared and Unique Susceptibility Genes in a Mouse Model of Graves’ Disease Determined in BXH and CXB Recombinant Inbred Mice

Por McLachlan, Sandra M., Aliesky, Holly A., Pichurin, Pavel N., Chen, Chun-Rong, Williams, Robert W., Rapoport, Basil
Publicado em 2008

Thyroid-stimulating autoantibodies in Graves disease preferentially recognize the free A subunit, not the thyrotropin holoreceptor

Por Chazenbalk, Gregorio D., Pichurin, Pavel, Chen, Chun-Rong, Latrofa, Francesco, Johnstone, Alan P., McLachlan, Sandra M., Rapoport, Basil
Publicado em 2002

Nail-patella-like renal disease masquerading as Fabry disease on kidney biopsy: a case report

Por Pinto e Vairo, Filippo, Pichurin, Pavel N., Fervenza, Fernando C., Nasr, Samih H., Mills, Kevin, Schmitz, Christopher T., Klee, Eric W., Herrmann, Sandra M.
Publicado no BMC Nephrol (2020)

Pregnancy in an Individual with Mild Smith-Lemli-Opitz Syndrome

Por Ellingson, Marissa S., Wick, Myra J., White, Wendy M., Raymond, Kimiyo M., Saenger, Amy K., Pichurin, Pavel N., Wassif, Christopher A., Porter, Forbes D., Babovic-Vuksanovic, Dusica
Publicado em 2013

Haploinsufficiency as a disease mechanism in GNB1‐associated neurodevelopmental disorder

Por Schultz‐Rogers, Laura, Masuho, Ikuo, Pinto e Vairo, Filippo, Schmitz, Christopher T., Schwab, Tanya L., Clark, Karl J., Gunderson, Lauren, Pichurin, Pavel N., Wierenga, Klaas, Martemyanov, Kirill A., Klee, Eric W.
Publicado no Mol Genet Genomic Med (2020)

Co-occurrence of a maternally inherited DNMT3A duplication and a paternally inherited pathogenic variant in EZH2 in a child with growth retardation and severe short stature: atypic...

Por Polonis, Katarzyna, Blackburn, Patrick R., Urrutia, Raul A., Lomberk, Gwen A., Kruisselbrink, Teresa, Cousin, Margot A., Boczek, Nicole J., Hoppman, Nicole L., Babovic-Vuksanovic, Dusica, Klee, Eric W., Pichurin, Pavel N.
Publicado no Cold Spring Harb Mol Case Stud (2018)

Novel de novo variant in EBF3 is likely to impact DNA binding in a patient with a neurodevelopmental disorder and expanded phenotypes: patient report, in silico functional assessme...

Por Blackburn, Patrick R., Barnett, Sarah S., Zimmermann, Michael T., Cousin, Margot A., Kaiwar, Charu, Pinto e Vairo, Filippo, Niu, Zhiyv, Ferber, Matthew J., Urrutia, Raul A., Selcen, Duygu, Klee, Eric W., Pichurin, Pavel N.
Publicado no Cold Spring Harb Mol Case Stud (2017)

The prevalence of diseases caused by lysosome-related genes in a cohort of undiagnosed patients

Por Vairo, Filippo Pinto, Boczek, Nicole J., Cousin, Margot A., Kaiwar, Charu, Blackburn, Patrick R., Conboy, Erin, Lanpher, Brendan C., Gavrilova, Ralitza H., Pichurin, Pavel N., Lazaridis, Konstantinos N., Babovic-Vuksanovic, Dusica, Klee, Eric W.
Publicado no Mol Genet Metab Rep (2017)

Characterization of three ciliopathy pedigrees expands the phenotype associated with biallelic C2CD3 variants

Por Boczek, Nicole J., Hopp, Katharina, Benoit, Lacey, Kraft, Daniel, Cousin, Margot A., Blackburn, Patrick R., Madsen, Charles D., Oliver, Gavin R., Nair, Asha A., Na, Jie, Bianchi, Diana W., Beek, Geoffrey, Harris, Peter C., Pichurin, Pavel, Klee, Eric W.
Publicado no Eur J Hum Genet (2018)

Mutations in the V‐ATPase Assembly Factor VMA21 Cause a Congenital Disorder of Glycosylation With Autophagic Liver Disease

Por Cannata Serio, Magda, Graham, Laurie A., Ashikov, Angel, Larsen, Lars Elmann, Raymond, Kimiyo, Timal, Sharita, Le Meur, Gwenn, Ryan, Margret, Czarnowska, Elzbieta, Jansen, Jos C., He, Miao, Ficicioglu, Can, Pichurin, Pavel, Hasadsri, Linda, Minassian, Berge, Rugierri, Alessandra, Kalimo, Hannu, Ríos‐Ocampo, W. Alfredo, Gilissen, Christian, Rodenburg, Richard, Jonker, Johan W., Holleboom, Adriaan G., Morava, Eva, Veltman, Joris A., Socha, Piotr, Stevens, Tom H., Simons, Matias, Lefeber, Dirk J.
Publicado no Hepatology (2020)

PMS2 monoallelic mutation carriers: the known unknown

Por Goodenberger, McKinsey L., Thomas, Brittany C., Riegert-Johnson, Douglas, Boland, C. Richard, Plon, Sharon E., Clendenning, Mark, Ko Win, Aung, Senter, Leigha, Lipkin, Steven M., Stadler, Zsofia K., Macrae, Finlay A., Lynch, Henry T., Weitzel, Jeffrey N., de la Chapelle, Albert, Syngal, Sapna, Lynch, Patrick, Parry, Susan, Jenkins, Mark A., Gallinger, Steven, Holter, Spring, Aronson, Melyssa, Newcomb, Polly A., Burnett, Terrilea, Le Marchand, Loïc, Pichurin, Pavel, Hampel, Heather, Terdiman, Jonathan P., Lu, Karen H., Thibodeau, Stephen, Lindor, Noralane M.
Publicado no Genet Med (2015)

A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome

Por Drivas, Theodore G., Li, Dong, Nair, Divya, Alaimo, Joseph T., Alders, Mariëlle, Altmüller, Janine, Barakat, Tahsin Stefan, Bebin, E. Martina, Bertsch, Nicole L., Blackburn, Patrick R., Blesson, Alyssa, Bouman, Arjan M., Brockmann, Knut, Brunelle, Perrine, Burmeister, Margit, Cooper, Gregory M., Denecke, Jonas, Dieux-Coëslier, Anne, Dubbs, Holly, Ferrer, Alejandro, Gal, Danna, Bartik, Lauren E., Gunderson, Lauren B., Hasadsri, Linda, Jain, Mahim, Karimov, Catherine, Keena, Beth, Klee, Eric W., Kloth, Katja, Lace, Baiba, Macchiaiolo, Marina, Marcadier, Julien L., Milunsky, Jeff M., Napier, Melanie P., Ortiz-Gonzalez, Xilma R., Pichurin, Pavel N., Pinner, Jason, Powis, Zoe, Prasad, Chitra, Radio, Francesca Clementina, Rasmussen, Kristen J., Renaud, Deborah L., Rush, Eric T., Saunders, Carol, Selcen, Duygu, Seman, Ann R., Shinde, Deepali N., Smith, Erica D., Smol, Thomas, Snijders Blok, Lot, Stoler, Joan M., Tang, Sha, Tartaglia, Marco, Thompson, Michelle L., van de Kamp, Jiddeke M., Wang, Jingmin, Weise, Dagmar, Weiss, Karin, Woitschach, Rixa, Wollnik, Bernd, Yan, Huifang, Zackai, Elaine H., Zampino, Giuseppe, Campeau, Philippe, Bhoj, Elizabeth
Publicado no Eur J Hum Genet (2020)

Point Mutations in Exon 1B of APC Reveal Gastric Adenocarcinoma and Proximal Polyposis of the Stomach as a Familial Adenomatous Polyposis Variant

Por Li, Jun, Woods, Susan L., Healey, Sue, Beesley, Jonathan, Chen, Xiaoqing, Lee, Jason S., Sivakumaran, Haran, Wayte, Nicci, Nones, Katia, Waterfall, Joshua J., Pearson, John, Patch, Anne-Marie, Senz, Janine, Ferreira, Manuel A., Kaurah, Pardeep, Mackenzie, Robertson, Heravi-Moussavi, Alireza, Hansford, Samantha, Lannagan, Tamsin R.M., Spurdle, Amanda B., Simpson, Peter T., da Silva, Leonard, Lakhani, Sunil R., Clouston, Andrew D., Bettington, Mark, Grimpen, Florian, Busuttil, Rita A., Di Costanzo, Natasha, Boussioutas, Alex, Jeanjean, Marie, Chong, George, Fabre, Aurélie, Olschwang, Sylviane, Faulkner, Geoffrey J., Bellos, Evangelos, Coin, Lachlan, Rioux, Kevin, Bathe, Oliver F., Wen, Xiaogang, Martin, Hilary C., Neklason, Deborah W., Davis, Sean R., Walker, Robert L., Calzone, Kathleen A., Avital, Itzhak, Heller, Theo, Koh, Christopher, Pineda, Marbin, Rudloff, Udo, Quezado, Martha, Pichurin, Pavel N., Hulick, Peter J., Weissman, Scott M., Newlin, Anna, Rubinstein, Wendy S., Sampson, Jone E., Hamman, Kelly, Goldgar, David, Poplawski, Nicola, Phillips, Kerry, Schofield, Lyn, Armstrong, Jacqueline, Kiraly-Borri, Cathy, Suthers, Graeme K., Huntsman, David G., Foulkes, William D., Carneiro, Fatima, Lindor, Noralane M., Edwards, Stacey L., French, Juliet D., Waddell, Nicola, Meltzer, Paul S., Worthley, Daniel L., Schrader, Kasmintan A., Chenevix-Trench, Georgia
Publicado no Am J Hum Genet (2016)

Partial loss of USP9X function leads to a male neurodevelopmental and behavioural disorder converging on TGFβ signalling.

Por Johnson, Brett V., Kumar, Raman, Oishi, Sabrina, Alexander, Suzy, Kasherman, Maria, Vega, Michelle Sanchez, Ivancevic, Atma, Gardner, Alison, Domingo, Deepti, Corbett, Mark, Parnell, Euan, Yoon, Sehyoun, Oh, Tracey, Lines, Matthew, Lefroy, Henrietta, Kini, Usha, Van Allen, Margot, Grønborg, Sabine, Mercier, Sandra, Küry, Sébastien, Bézieau, Stéphane, Pasquier, Laurent, Raynaud, Martine, Afenjar, Alexandra, de Villemeur, Thierry Billette, Keren, Boris, Désir, Julie, Van Maldergem, Lionel, Marangoni, Martina, Dikow, Nicola, Koolen, David A., VanHasselt, Peter M., Weiss, Marjan, Zwijnenburg, Petra, Sa, Joaquim, Reis, Claudia Falcao, López-Otín, Carlos, Santiago-Fernández, Olaya, Fernández-Jaén, Alberto, Rauch, Anita, Steindl, Katharina, Joset, Pascal, Goldstein, Amy, Madan-Khetarpal, Suneeta, Infante, Elena, Zackai, Elaine, Mcdougall, Carey, Narayanan, Vinodh, Ramsey, Keri, Mercimek-Andrews, Saadet, Pena, Loren, Shashi, Vandana, Schoch, Kelly, Sullivan, Jennifer A., Pinto e Vairo, Filippo, Pichurin, Pavel N., Ewing, Sarah A., Barnett, Sarah S., Klee, Eric W., Perry, M. Scott, Koenig, Mary Kay, Keegan, Catherine E., Schuette, Jane L., Asher, Stephanie, Perilla-Young, Yezmin, Smith, Laurie D., Rosenfeld, Jill A., Bhoj, Elizabeth, Kaplan, Paige, Li, Dong, Oegema, Renske, van Binsbergen, Ellen, van der Zwaag, Bert, Smeland, Marie Falkenberg, Cutcutache, Ioana, Page, Matthew, Armstrong, Martin, Lin, Angela E., Steeves, Marcie A., den Hollander, Nicolette, Hoffer, Mariëtte J V, Reijnders, Margot R.F., Demirda, Serwet, Koboldt, Daniel C., Bartholomew, Dennis, Mosher, Theresa Mihalic, Hickey, Scott E., Shieh, Christine, Sanchez-Lara, Pedro A., Graham, John M., Tezcan, Kamer, Schaefer, G. B., Danylchuk, Noelle R., Asamoah, Alexander, Jackson, Kelly E., Yachelevich, Naomi, Au, Margaret, Pérez-Jurado, Luis A., Kleefstra, Tjitske, Penzes, Peter, Wood, Stephen A., Burne, Thomas, Pierson, Tyler Mark, Piper, Michael, Gecz, Jozef, Jolly, Lachlan A.
Publicado no Biol Psychiatry (2019)

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability

Por Cogné, Benjamin, Ehresmann, Sophie, Beauregard-Lacroix, Eliane, Rousseau, Justine, Besnard, Thomas, Garcia, Thomas, Petrovski, Slavé, Avni, Shiri, McWalter, Kirsty, Blackburn, Patrick R., Sanders, Stephan J., Uguen, Kévin, Harris, Jacqueline, Cohen, Julie S., Blyth, Moira, Lehman, Anna, Berg, Jonathan, Li, Mindy H., Kini, Usha, Joss, Shelagh, von der Lippe, Charlotte, Gordon, Christopher T., Humberson, Jennifer B., Robak, Laurie, Scott, Daryl A., Sutton, Vernon R., Skraban, Cara M., Johnston, Jennifer J., Poduri, Annapurna, Nordenskjöld, Magnus, Shashi, Vandana, Gerkes, Erica H., Bongers, Ernie M.H.F., Gilissen, Christian, Zarate, Yuri A., Kvarnung, Malin, Lally, Kevin P., Kulch, Peggy A., Daniels, Brina, Hernandez-Garcia, Andres, Stong, Nicholas, McGaughran, Julie, Retterer, Kyle, Tveten, Kristian, Sullivan, Jennifer, Geisheker, Madeleine R., Stray-Pedersen, Asbjorg, Tarpinian, Jennifer M., Klee, Eric W., Sapp, Julie C., Zyskind, Jacob, Holla, Øystein L., Bedoukian, Emma, Filippini, Francesca, Guimier, Anne, Picard, Arnaud, Busk, Øyvind L., Punetha, Jaya, Pfundt, Rolph, Lindstrand, Anna, Nordgren, Ann, Kalb, Fayth, Desai, Megha, Ebanks, Ashley Harmon, Jhangiani, Shalini N., Dewan, Tammie, Coban Akdemir, Zeynep H., Telegrafi, Aida, Zackai, Elaine H., Begtrup, Amber, Song, Xiaofei, Toutain, Annick, Wentzensen, Ingrid M., Odent, Sylvie, Bonneau, Dominique, Latypova, Xénia, Deb, Wallid, Redon, Sylvia, Bilan, Frédéric, Legendre, Marine, Troyer, Caitlin, Whitlock, Kerri, Caluseriu, Oana, Murphree, Marine I., Pichurin, Pavel N., Agre, Katherine, Gavrilova, Ralitza, Rinne, Tuula, Park, Meredith, Shain, Catherine, Heinzen, Erin L., Xiao, Rui, Amiel, Jeanne, Lyonnet, Stanislas, Isidor, Bertrand, Biesecker, Leslie G., Lowenstein, Dan, Posey, Jennifer E., Denommé-Pichon, Anne-Sophie, Férec, Claude, Yang, Xiang-Jiao, Rosenfeld, Jill A., Gilbert-Dussardier, Brigitte, Audebert-Bellanger, Séverine, Redon, Richard, Stessman, Holly A.F., Nellaker, Christoffer, Yang, Yaping, Lupski, James R., Goldstein, David B., Eichler, Evan E., Bolduc, Francois, Bézieau, Stéphane, Küry, Sébastien, Campeau, Philippe M.
Publicado no Am J Hum Genet (2019)