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

af Almeqdadi, Mohammad, Kemppainen, Jennifer L., Pichurin, Pavel N., Gavrilova, Ralitza H.
Udgivet i Am J Case Rep (2018)

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

af Chen, Chun-Rong, Pichurin, Pavel, Nagayama, Yuji, Latrofa, Francesco, Rapoport, Basil, McLachlan, Sandra M.
Udgivet 2003

Cushing syndrome: uncovering Carney complex due to novel PRKAR1A mutation

af Zhang, Catherine D, Pichurin, Pavel N, Bobr, Aleh, Lyden, Melanie L, Young, William F, Bancos, Irina
Udgivet i Endocrinol Diabetes Metab Case Rep (2019)

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

af Conboy, Erin, Vairo, Filippo, Waggoner, Darrel, Ober, Carole, Das, Soma, Dhamija, Radhika, Klee, Eric W., Pichurin, Pavel
Udgivet i Case Rep Genet (2017)

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

af Kaur, Ravinder Jeet, Pichurin, Pavel N, Hines, Jolaine M, Singh, Ravinder J, Grebe, Stefan K, Bancos, Irina
Udgivet i J Endocr Soc (2019)

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

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

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

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

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

af Pinto e Vairo, Filippo, Pichurin, Pavel N., Fervenza, Fernando C., Nasr, Samih H., Mills, Kevin, Schmitz, Christopher T., Klee, Eric W., Herrmann, Sandra M.
Udgivet i BMC Nephrol (2020)

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

af 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
Udgivet 2013

Haploinsufficiency as a disease mechanism in GNB1‐associated neurodevelopmental disorder

af 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.
Udgivet i 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...

af 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.
Udgivet i 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...

af 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.
Udgivet i Cold Spring Harb Mol Case Stud (2017)

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

af 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.
Udgivet i Mol Genet Metab Rep (2017)

The low excretor phenotype of glutaric acidemia type I is a source of false negative newborn screening results and challenging diagnoses

af Guenzel, Adam J., Hall, Patricia L., Scott, Anna I., Lam, Christina, Chang, Irene J., Thies, Jenny, Ferreira, Carlos R., Pichurin, Pavel, Laxen, William, Raymond, Kimiyo, Gavrilov, Dimitar K., Oglesbee, Devin, Rinaldo, Piero, Matern, Dietrich, Tortorelli, Silvia
Udgivet i JIMD Rep (2021)

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

af 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.
Udgivet i Eur J Hum Genet (2018)

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

af 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.
Udgivet i Hepatology (2020)

PMS2 monoallelic mutation carriers: the known unknown

af 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.
Udgivet i Genet Med (2015)

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

af 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
Udgivet i 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

af 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
Udgivet i Am J Hum Genet (2016)

Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome

af Cousin, Margot A., Creighton, Blake A., Breau, Keith A., Spillmann, Rebecca C., Torti, Erin, Dontu, Sruthi, Tripathi, Swarnendu, Ajit, Deepa, Edwards, Reginald J., Afriyie, Simone, Bay, Julia C., Harper, Kathryn M., Beltran, Alvaro A., Munoz, Lorena J., Rodriguez, Liset Falcon, Stankewich, Michael C., Person, Richard E., Si, Yue, Normand, Elizabeth A., Blevins, Amy, May, Alison S., Bier, Louise, Aggarwal, Vimla, Mancini, Grazia M. S., van Slegtenhorst, Marjon A., Cremer, Kirsten, Becker, Jessica, Engels, Hartmut, Aretz, Stefan, MacKenzie, Jennifer J., Brilstra, Eva, van Gassen, Koen L. I., van Jaarsveld, Richard H., Oegema, Renske, Parsons, Gretchen M., Mark, Paul, Helbig, Ingo, McKeown, Sarah E., Stratton, Robert, Cogne, Benjamin, Isidor, Bertrand, Cacheiro, Pilar, Smedley, Damian, Firth, Helen V., Bierhals, Tatjana, Kloth, Katja, Weiss, Deike, Fairley, Cecilia, Shieh, Joseph T., Kritzer, Amy, Jayakar, Parul, Kurtz-Nelson, Evangeline, Bernier, Raphael A., Wang, Tianyun, Eichler, Evan E., van de Laar, Ingrid M. B. H., McConkie-Rosell, Allyn, McDonald, Marie T., Kemppainen, Jennifer, Lanpher, Brendan C., Schultz-Rogers, Laura E., Gunderson, Lauren B., Pichurin, Pavel N., Yoon, Grace, Zech, Michael, Jech, Robert, Winkelmann, Juliane, Beltran, Adriana S., Zimmermann, Michael T., Temple, Brenda, Moy, Sheryl S., Klee, Eric W., Tan, Queenie K.-G., Lorenzo, Damaris N.
Udgivet i Nat Genet (2021)