Patrick R Blackburn (Patrick Blackburn)

ORCID

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 32

Top Venues

Molecular genetics & genomic medicine

Clinical case reports

Research square

American journal of medical genetics. Part A

This page only lists publications with an associated author ORCID identifier.

Publications

Hellen Lesmann, Alexander Hustinx, Shahida Moosa, Hannah Klinkhammer, Elaine Marchi, Pilar Caro, Ibrahim M Abdelrazek, Jean Tori Pantel, Merle Ten Hagen, Meow-Keong Thong, Rifhan Azwani Binti Mazlan, Sok Kun Tae, Tom Kamphans, Wolfgang Meiswinkel, Jing-Mei Li, Behnam Javanmardi, Alexej Knaus, Annette Uwineza, Cordula Knopp, Tinatin Tkemaladze, Miriam Elbracht, Larissa Mattern, Rami Abou Jamra, Clara Velmans, Vincent Strehlow, Maureen Jacob, Angela Peron, Cristina Dias, Beatriz Carvalho Nunes, Thainá Vilella, Isabel Furquim Pinheiro, Chong Ae Kim, Maria Isabel Melaragno, Hannah Weiland, Sophia Kaptain, Karolina Chwiałkowska, Miroslaw Kwasniewski, Ramy Saad, Sarah Wiethoff, Himanshu Goel, Clara Tang, Anna Hau, Tahsin Stefan Barakat, Przemysław Panek, Amira Nabil, Julia Suh, Frederik Braun, Israel Gomy, Luisa Averdunk, Ekanem Ekure, Gaber Bergant, Borut Peterlin, Claudio Graziano, Nagwa Gaboon, Moisés O Fiesco-Roa, Alessandro Mauro Spinelli, Nina-Maria Wilpert, Prasit Phowthongkum, Nergis Güzel, Tobias B Haack, Rana Bitar, Andreas Tzschach, Agusti Rodriguez-Palmero, Theresa Brunet, Sabine Rudnik-Schöneborn, Silvina Noemi Contreras-Capetillo, Ava Oberlack, Carole Samango-Sprouse, Teresa Sadeghin, Margaret Olaya, Konrad Platzer, Artem O Borovikov, Franziska Schnabel, Lara Heuft, Vera Herrmann, Renske Oegema, Nour Elkhateeb, Sheetal Kumar, Katalin Komlosi, Khoushoua Mohamed, Silvia Kalantari, Fabio Sirchia, Antonio F Martinez-Monseny, Matthias Höller, Louiza Toutouna, Amal Mohamed, Amaia Lasa-Aranzasti, John Andrew Sayer, Nadja Ehmke, Magdalena Danyel, Henrike Sczakiel, Sarina Schwartzmann, Felix Boschann, Max Zhao, Ronja Adam, Lara Einicke, Denise Horn, Kee Seang Chew, Choy Chen Kam, Miray Karakoyun, Ben Pode-Shakked, Aviva Eliyahu, Rachel Rock, Teresa Carrion, Odelia Chorin, Yuri A Zarate, Marcelo Martinez Conti, Mert Karakaya, Moon Ley Tung, Bharatendu Chandra, Arjan Bouman, Aimé Z Lumaka, Naveed Wasif, Marwan S Shinawi, Patrick R Blackburn, Tianyun Wang, Tim Niehues, Axel Schmidt, Regina Rita Roth, Dagmar Wieczorek, Ping Hu, Rebekah L Waikel, Suzanna E Ledgister Hanchard, Gehad Elmakkawy, Sylvia Safwat, Frédéric Ebstein, Elke Krüger, Sébastien Küry, Stephane Bezieau, Annabelle Arlt, Eric Olinger, Felix Marbach, Dong Li, Lucie Dupuis, Roberto Mendoza-Londono, Sofia Douzgou Houge, Denisa Weis, Brian Hon-Yin Chung, Christopher C Y Mak, Hülya Kayserili, Nursel Elcioglu, Ayca Aykut, Peli Özlem Şimşek-Kiper, Nina Bögershausen, Bernd Wollnik, Heidi Beate Bentzen, Ingo Kurth, Christian Netzer, Aleksandra Jezela-Stanek, Koen Devriendt, Karen W Gripp, Martin Mücke, Alain Verloes, Christian P Schaaf, Christoffer Nellåker, Benjamin D Solomon, Markus M Nöthen, Ebtesam Abdalla, Gholson J Lyon, Peter M Krawitz, Tzung-Chien Hsieh
GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases. Research square (2024)
Tzung-Chien Hsieh, Hellen Lesmann, Alexander Hustinx, Shahida Moosa, Elaine Marchi, Maria Del Pilar Caro Martin, Ibrahim Abdelrazek, Jean Tori Pantel, Hannah Klinkhammer, Merle Ten Hagen, Meow-Keong Thong, Rifhan Azwani Binti Mazlan, Sok Kun Tae, Tom Kamphans, Wolfgang Meiswinkel, Jing-Mei Li, Behnam Javanmardi, Alexej Knaus, Annette Uwineza, Cordula Knopp, Tinatin Tkemaladze, Miriam Elbracht, Larissa Mattern, Rami Abou Jamra, Clara Velmans, Vincent Strehlow, Maureen Jacob, Angela Peron, Cristina Dias, Beatriz Nunes, Thainá Vilella, Isabel Pinheiro, Chong Ae Kim, Maria Melaragno, Hannah Weiland, Sophia Kaptain, Karolina Chwiałkowska, Miroslaw Kwasniewski, Ramy Saad, Sarah Wiethoff, Himanshu Goel, Clara Tang, Anna Hau, Tahsin Stefan Barakat, Przemysław Panek, Amira Nabil, Julia Suh, Frederik Braun, Israel Gomy, Luisa Averdunk, Ekanem Ekure, Gaber Bergant, Borut Peterlin, Claudio Graziano, Nagwa Gaboon, Moisés O Fiesco-Roa, Alessandro Mauro Spinelli, Nina-Maria Wilpert, Prasit Phowthongkum, Nergis Güzel, Tobias B Haack, Rana Bitar, Andreas Tzschach, Agusti Rodriguez-Palmero, Theresa Brunet, Sabine Rudnik-Schöneborn, Silvina Contreras-Capetillo, Ava Oberlack, Carole Samango-Sprouse, Teresa Sadeghin, Margaret Olaya, Konrad Platzer, Artem O Borovikov, Franziska Schnabel, Lara Heuft, Vera Herrmann, Renske Oegema, Nour Elkhateeb, Sheetal Kumar, Katalin Komlosi, Khoushoua Mohamed, Silvia Kalantari, Fabio Sirchia, Antonio Martinez-Monseny, Matthias Höller, Amal Mohamed, Amaia Lasa-Aranzasti, John Andrew Sayer, Nadja Ehmke, Magdalena Danyel, Henrike Sczakiel, Sarina Schwartzmann, Felix Boschann, Max Zhao, Ronja Adams, Lara Einicke, Denise Horn, Kee Seang Chew, Choy Chen Kam, Miray Karakoyun, Ben Pode-Shakked, Aviva Eliyahu, Rachel Rock, Teresa Carrion, Odelia Chorin, Yuri Zarate, Marcello Martinez, Mert Karakaya, Moon Ley Tung, Bharatendu Chandra, Aimé Z Lumaka, Marwan S Shinawi, Patrick R Blackburn, Tianyun Wang, Tim Niehues, Ping Hu, Rebekah Waikel, Suzanna Ledgister Hanchard, Gehad Elmakkawy, Sylvia Safwat, Frédéric Ebstein, Elke Krüger, Sébastien Küry, Stephane Bezieau, Annabelle Arlt, Felix Marbach, Dong Li, Lucie Dupuis, Roberto Mendoza-Londono, Sofia Douzgou Houge, Denisa Weis, Brian Hon-Yin Chung, Christopher Mak, Nursel Elcioglu, Ayca Aykut, Peli Şimşek-Kiper, Nina Bögershausen, Bernd Wollnik, Heidi Beate Bentzen, Ingo Kurth, Christian Netzer, Aleksandra Jezela-Stanek, Koen Devriendt, Karen Gripp, Martin Mücke, Alain Verloes, Christian Schaaf, Christoffer Nellåker, Benjamin Solomon, Markus Nöthen, Ebtesam Abdalla, Gholson J Lyon, Peter Krawitz, Hülya Kayserili, Louiza Toutouna, Axel Schmidt, Regina Roth, Dagmar Wieczorek, Eric Olinger
GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases. Research square (2024)
Hellen Lesmann, Alexander Hustinx, Shahida Moosa, Hannah Klinkhammer, Elaine Marchi, Pilar Caro, Ibrahim M Abdelrazek, Jean Tori Pantel, Merle Ten Hagen, Meow-Keong Thong, Rifhan Azwani Binti Mazlan, Sok Kun Tae, Tom Kamphans, Wolfgang Meiswinkel, Jing-Mei Li, Behnam Javanmardi, Alexej Knaus, Annette Uwineza, Cordula Knopp, Tinatin Tkemaladze, Miriam Elbracht, Larissa Mattern, Rami Abou Jamra, Clara Velmans, Vincent Strehlow, Maureen Jacob, Angela Peron, Cristina Dias, Beatriz Carvalho Nunes, Thainá Vilella, Isabel Furquim Pinheiro, Chong Ae Kim, Maria Isabel Melaragno, Hannah Weiland, Sophia Kaptain, Karolina Chwiałkowska, Miroslaw Kwasniewski, Ramy Saad, Sarah Wiethoff, Himanshu Goel, Clara Tang, Anna Hau, Tahsin Stefan Barakat, Przemysław Panek, Amira Nabil, Julia Suh, Frederik Braun, Israel Gomy, Luisa Averdunk, Ekanem Ekure, Gaber Bergant, Borut Peterlin, Claudio Graziano, Nagwa Gaboon, Moisés O Fiesco-Roa, Alessandro Mauro Spinelli, Nina-Maria Wilpert, Prasit Phowthongkum, Nergis Güzel, Tobias B Haack, Rana Bitar, Andreas Tzschach, Agusti Rodriguez-Palmero, Theresa Brunet, Sabine Rudnik-Schöneborn, Silvina Noemi Contreras-Capetillo, Ava Oberlack, Carole Samango-Sprouse, Teresa Sadeghin, Margaret Olaya, Konrad Platzer, Artem O Borovikov, Franziska Schnabel, Lara Heuft, Vera Herrmann, Renske Oegema, Nour Elkhateeb, Sheetal Kumar, Katalin Komlosi, Khoushoua Mohamed, Silvia Kalantari, Fabio Sirchia, Antonio F Martinez-Monseny, Matthias Höller, Louiza Toutouna, Amal Mohamed, Amaia Lasa-Aranzasti, John Andrew Sayer, Nadja Ehmke, Magdalena Danyel, Henrike Sczakiel, Sarina Schwartzmann, Felix Boschann, Max Zhao, Ronja Adam, Lara Einicke, Denise Horn, Kee Seang Chew, Choy Chen Kam, Miray Karakoyun, Ben Pode-Shakked, Aviva Eliyahu, Rachel Rock, Teresa Carrion, Odelia Chorin, Yuri A Zarate, Marcelo Martinez Conti, Mert Karakaya, Moon Ley Tung, Bharatendu Chandra, Arjan Bouman, Aimé Z Lumaka, Naveed Wasif, Marwan S Shinawi, Patrick R Blackburn, Tianyun Wang, Tim Niehues, Axel Schmidt, Regina Rita Roth, Dagmar Wieczorek, Ping Hu, Rebekah L Waikel, Suzanna E Ledgister Hanchard, Gehad Elmakkawy, Sylvia Safwat, Frédéric Ebstein, Elke Krüger, Sébastien Küry, Stephane Bezieau, Annabelle Arlt, Eric Olinger, Felix Marbach, Dong Li, Lucie Dupuis, Roberto Mendoza-Londono, Sofia Douzgou Houge, Denisa Weis, Brian Hon-Yin Chung, Christopher C Y Mak, Hülya Kayserili, Nursel Elcioglu, Ayca Aykut, Peli Özlem Şimşek-Kiper, Nina Bögershausen, Bernd Wollnik, Heidi Beate Bentzen, Ingo Kurth, Christian Netzer, Aleksandra Jezela-Stanek, Koen Devriendt, Karen W Gripp, Martin Mücke, Alain Verloes, Christian P Schaaf, Christoffer Nellåker, Benjamin D Solomon, Markus M Nöthen, Ebtesam Abdalla, Gholson J Lyon, Peter M Krawitz, Tzung-Chien Hsieh
GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases. Research square (2024)
Patrick R Blackburn, Rose B McGee, Roya Mostafavi, Andrew J Carroll, Fady M Mikhail, Gregory T Armstrong, Larissa V Furtado, Jason Chiang, David A Wheeler, Steven S Carey, Kim E Nichols, Santhosh A Upadhyaya
Constitutional balanced translocations involving SMARCB1: A rare cause of rhabdoid tumor predisposition syndrome. Genes, chromosomes & cancer (2023)
Patrick R Blackburn, Frédéric Ebstein, Tzung-Chien Hsieh, Marialetizia Motta, Francesca Clementina Radio, Johanna C Herkert, Tuula Rinne, Isabelle Thiffault, Michele Rapp, Mariel Alders, Saskia Maas, Bénédicte Gerard, Thomas Smol, Catherine Vincent-Delorme, Benjamin Cogné, Bertrand Isidor, Marie Vincent, Ruxandra Bachmann-Gagescu, Anita Rauch, Pascal Joset, Giovanbattista Giovanni Battista Ferrero, Andrea Ciolfi, Thomas Husson, Anne-Marie Guerrot, Carlos A Bacino, Colleen Macmurdo, Stephanie S Thompson, Jill Anne Rosenfeld, Laurence Olivier-Faivre, Frédéric Tran Mau Them, Wallid Deb, Virginie Vignard, Pankaj B Agrawal, Jill A Madden, Alice Goldenberg, François Lecoquierre, Michael Zech, Holger Prokisch, Ján Necpál, Robert Jech, Juliane Winkelmann, Monika Turčanová Koprušáková, Vassiliki Konstantopoulou, John R Younce, Marwan Shinawi, Chloe Mighton, Charlotte Fung, Chantal Morel, Jordan Lerner- Ellis, Stephanie DiTroia, Magalie Barth, Dominique Bonneau, Ingrid Krapels, Sander Stegmann, Vyne van der Schoot, Theresa Brunet, Cornelia Bußmann, Cyril Mignot, Thomas Courtin, Claudia Ravelli, Boris Keren, Alban Ziegler, Linda Hasadsri, Pavel N Pichurin, Eric W Klee, Katheryn Grand, Pedro A Sanchez-Lara, Elke Krüger, Stéphane Bézieau, Hannah Klinkhammer, Peter Michael Krawitz, Evan E Eichler, Tartaglia Marco, Sébastien Küry, Tianyun Wang
Loss-of-function variants in CUL3 cause a syndromic neurodevelopmental disorder. medRxiv : the preprint server for health sciences (2023)
Alex F Thompson, Patrick R Blackburn, Noah S Arons, Sarah N Stevens, Dusica Babovic-Vuksanovic, Jane B Lian, Eric W Klee, Jason Stumpff
Pathogenic mutations in the chromokinesin KIF22 disrupt anaphase chromosome segregation. eLife 11 (2022)
Patrick R Blackburn, Matthew J Schultz, Carrie A Lahner, Dong Li, Elizabeth Bhoj, Laura J Fisher, Deborah L Renaud, Amy Kenney, Niema Ibrahim, Mais Hashem, Mohammed Zain Seidahmed, Linda Hasadsri, Samantha A Schrier Vergano, Fowzan Sami Alkuraya, Brendan C Lanpher
Expanding the clinical and phenotypic heterogeneity associated with biallelic variants in ACO2. Annals of clinical and translational neurology 7 (6) (2020)
Mathew A Coban, Patrick R Blackburn, Murray L Whitelaw, Mieke M van Haelst, Paldeep S Atwal, Thomas R Caulfield
Structural Models for the Dynamic Effects of Loss-of-Function Variants in the Human SIM1 Protein Transcriptional Activation Domain. Biomolecules 10 (9) (2020)
Theodore G Drivas, Dong Li, Divya Nair, Joseph T Alaimo, Mariëlle Alders, Janine Altmüller, Tahsin Stefan Barakat, E Martina Bebin, Nicole L Bertsch, Patrick R Blackburn, Alyssa Blesson, Arjan M Bouman, Knut Brockmann, Perrine Brunelle, Margit Burmeister, Gregory M Cooper, Jonas Denecke, Anne Dieux-Coëslier, Holly Dubbs, Alejandro Ferrer, Danna Gal, Lauren E Bartik, Lauren B Gunderson, Linda Hasadsri, Mahim Jain, Catherine Karimov, Beth Keena, Eric W Klee, Katja Kloth, Baiba Lace, Marina Macchiaiolo, Julien L Marcadier, Jeff M Milunsky, Melanie P Napier, Xilma R Ortiz-Gonzalez, Pavel N Pichurin, Jason Pinner, Zöe Powis, Chitra Prasad, Francesca Clementina Radio, Kristen J Rasmussen, Deborah L Renaud, Eric T Rush, Carol Saunders, Duygu Selcen, Ann R Seman, Deepali N Shinde, Erica D Smith, Thomas Smol, Lot Snijders Blok, Joan M Stoler, Sha Tang, Marco Tartaglia, Michelle L Thompson, Jiddeke M van de Kamp, Jingmin Wang, Dagmar Weise, Karin Weiss, Rixa Woitschach, Bernd Wollnik, Huifang Yan, Elaine H Zackai, Giuseppe Zampino, Philippe M Campeau, Elizabeth Bhoj
A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome. European journal of human genetics : EJHG 28 (10) (2020)
Patrick R Blackburn, James B Smadbeck, Iya Znoyko, Matthew R Webley, Beth A Pitel, George Vasmatzis, Xinjie Xu, Patricia T Greipp, Nicole L Hoppman, Rhett P Ketterling, Linda B Baughn, Kathryn G Lindsey, Cynthia A Schandl, Daynna J Wolff, Jess F Peterson
Cryptic and atypical KMT2A-USP2 and KMT2A-USP8 rearrangements identified by mate pair sequencing in infant and childhood leukemia. Genes, chromosomes & cancer 59 (7) (2020)
Maham Sewani, Kimberly Nugent, Patrick R Blackburn, Jessica M Tarnowski, Andres Hernandez-Garcia, Jeanne Amiel, Sandra Whalen, Boris Keren, Thomas Courtin, Jill A Rosenfeld, Yaping Yang, Marc C Patterson, Pavel Pichurin, Scott D McLean, Daryl A Scott
Further delineation of the phenotypic spectrum associated with hemizygous loss-of-function variants in NONO. American journal of medical genetics. Part A 182 (4) (2019)
Patrick R Blackburn, Cinthya J Zepeda-Mendoza, Teresa M Kruisselbrink, Lisa A Schimmenti, Sixto García-Miñaur, Maria Palomares-Bralo, Julián Nevado, María A Mori, Guylène Le Meur, Eric W Klee, Cédric Le Caignec, Pablo Lapunzina, Bertrand Isidor, Dusica Babovic-Vuksanovic
Variable expressivity of syndromic BMP4-related eye, brain, and digital anomalies: A review of the literature and description of three new cases. European journal of human genetics : EJHG 27 (9) (2019)
Patrick R Blackburn, Dragana Milosevic, Tomas Marek, Andrew L Folpe, B Matthew Howe, Robert J Spinner, Jodi M Carter
PIK3CA mutations in lipomatosis of nerve with or without nerve territory overgrowth. Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc 33 (3) (2019)
Pantelis Nicola, Patrick R Blackburn, Kristen J Rasmussen, Nicole L Bertsch, Eric W Klee, Linda Hasadsri, Pavel N Pichurin, Julia Rankin, F Lucy Raymond, null null, Jill Clayton-Smith
De novo DDX3X missense variants in males appear viable and contribute to syndromic intellectual disability. American journal of medical genetics. Part A 179 (4) (2019)
Gavin R Oliver, Patrick R Blackburn, Marissa S Ellingson, Erin Conboy, Filippo Pinto E Vairo, Matthew Webley, Erik Thorland, Matthew Ferber, Els Van Hul, Ilse M van der Werf, Wim Wuyts, Dusica Babovic-Vuksanovic, Eric W Klee
RNA-Seq detects a SAMD12-EXT1 fusion transcript and leads to the discovery of an EXT1 deletion in a child with multiple osteochondromas. Molecular genetics & genomic medicine 7 (3) (2019)
Ash Zawerton, Cyril Mignot, Ashley Sigafoos, Patrick R Blackburn, Abdul Haseeb, Kirsty McWalter, Shoji Ichikawa, Caroline Nava, Boris Keren, Perrine Charles, Isabelle Marey, Anne-Claude Tabet, Jonathan Levy, Laurence Perrin, Andreas Hartmann, Gaetan Lesca, Caroline Schluth-Bolard, Pauline Monin, Sophie Dupuis-Girod, Maria J Guillen Sacoto, Rhonda E Schnur, Zehua Zhu, Alice Poisson, Salima El Chehadeh, Yves Alembik, Ange-Line Bruel, Daphne Lehalle, Sophie Nambot, Sébastien Moutton, Sylvie Odent, Sylvie Jaillard, Christele Dubourg, Yvonne Hilhorst-Hofstee, Tina Barbaro-Dieber, Lucia Ortega, Elizabeth J Bhoj, Diane Masser-Frye, Lynne M Bird, Kristin Lindstrom, Keri M Ramsey, Vinodh Narayanan, Emily Fassi, Marcia Willing, Trevor Cole, Claire G Salter, Rhoda Akilapa, Anthony Vandersteen, Natalie Canham, Patrick Rump, Erica H Gerkes, Jolien S Klein Wassink-Ruiter, Emilia Bijlsma, Mariëtte J V Hoffer, Marcelo Vargas, Antonina Wojcik, Florian Cherik, Christine Francannet, Jill Anne Rosenfeld, Keren Machol, Daryl A Scott, Carlos A Bacino, Xia Wang, Gary D Clark, Marta Bertoli, Simon Zwolinski, Rhys Huw Thomas, Ela Akay, Richard C Chang, Rebekah Bressi, Rossana Sanchez Russo, Myriam Srour, Laura Russell, Anne-Marie E Goyette, Lucie Dupuis, Roberto Mendoza-Londono, Catherine Karimov, Maries Joseph, Mathilde Nizon, Benjamin Cogné, Alma Kuechler, Amélie Piton, null null, Eric W Klee, Véronique Lefebvre, Karl J Clark, Christel Depienne
Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency. Genetics in medicine : official journal of the American College of Medical Genetics 22 (3) (2019)
Enrico D H Konrad, Niels Nardini, Almuth Caliebe, Inga Nagel, Dana Young, Gabriella Horvath, Stephanie L Santoro, Christine Shuss, Alban Ziegler, Dominique Bonneau, Marlies Kempers, Rolph Pfundt, Eric Legius, Arjan Bouman, Kyra E Stuurman, Katrin Õunap, Sander Pajusalu, Monica Hsiung Wojcik, Georgia Vasileiou, Gwenaël Le Guyader, Hege M Schnelle, Siren Berland, Evelien Zonneveld-Huijssoon, Simone Kersten, Aditi Gupta, Patrick R Blackburn, Marissa S Ellingson, Matthew J Ferber, Radhika Dhamija, Eric W Klee, Meriel McEntagart, Klaske D Lichtenbelt, Amy Kenney, Samantha A Vergano, Rami Abou Jamra, Konrad Platzer, Mary Ella Pierpont, Divya Khattar, Robert J Hopkin, Richard J Martin, Marjolijn C J Jongmans, Vivian Y Chang, Julian A Martinez-Agosto, Outi Kuismin, Mitja I Kurki, Olli Pietiläinen, Aarno Palotie, Timothy J Maarup, Diana S Johnson, Katja Venborg Pedersen, Lone W Laulund, Sally A Lynch, Moira Blyth, Katrina Prescott, Natalie Canham, Rita Ibitoye, Eva H Brilstra, Marwan Shinawi, Emily Fassi, null null, Heinrich Sticht, Anne Gregor, Hilde Van Esch, Christiane Zweier
CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum. Genetics in medicine : official journal of the American College of Medical Genetics 21 (12) (2019)
Patrick R Blackburn, Jaime I Davila, Rory A Jackson, Numrah Fadra, Mazen A Atiq, Beth A Pitel, Asha A Nair, Todd J VanDeWalker, Mark G Hessler, Sara K Hovel, Rebecca N Wehrs, Karen J Fritchie, Robert B Jenkins, Kevin C Halling, Katherine B Geiersbach
RNA sequencing identifies a novel USP9X-USP6 promoter swap gene fusion in a primary aneurysmal bone cyst. Genes, chromosomes & cancer 58 (8) (2019)
John E Richter, Michael T Zimmermann, Patrick R Blackburn, Ahmed N Mohammad, Eric W Klee, Laura M Pollard, Colleen F Macmurdo, Paldeep S Atwal, Thomas R Caulfield
Protein modeling and clinical description of a novel in-frame GLB1 deletion causing GM1 gangliosidosis type II. Molecular genetics & genomic medicine 6 (6) (2018)
Patrick R Blackburn, Oscar F Chacon-Camacho, Xilma R Ortiz-González, Mariana Reyes, Graciela A Lopez-Uriarte, Shabnam Zarei, Elizabeth Joyce Bhoj, Sofia Perez-Solorzano, Rachael A Vaubel, Marine I Murphree, Jessica Nava, Vianney Cortes-Gonzalez, Joseph E Parisi, Cristina Villanueva-Mendoza, Iris G Tirado-Torres, Dong Li, Eric W Klee, Pavel N Pichurin, Juan Carlos Zenteno Ruiz
Extension of the mutational and clinical spectrum of SOX2 related disorders: Description of six new cases and a novel association with suprasellar teratoma. American journal of medical genetics. Part A 176 (12) (2018)
Oswaldo Lorenzo-Betancor, Patrick R Blackburn, Emily Edwards, Rocío Vázquez-do-Campo, Eric W Klee, Catherine Labbé, Kyndall Hodges, Patrick Glover, Ashley N Sigafoos, Alexandra I Soto, Ronald L Walton, Stephen Doxsey, Michael B Bober, Sarah Jennings, Karl J Clark, Yan Asmann, David Miller, William D Freeman, James Meschia, Owen A Ross
PCNT point mutations and familial intracranial aneurysms. Neurology 91 (23) (2018)
Myron S Ignatius, Madeline N Hayes, Finola E Moore, Qin Tang, Sara P Garcia, Patrick R Blackburn, Kunal Baxi, Long Wang, Alexander Jin, Ashwin Ramakrishnan, Sophia Reeder, Yidong Chen, Gunnlaugur Petur Nielsen, Eleanor Y Chen, Robert P Hasserjian, Franck Tirode, Stephen C Ekker, David M Langenau
tp53 deficiency causes a wide tumor spectrum and increases embryonal rhabdomyosarcoma metastasis in zebrafish. eLife 7 (2018)
Nicole J Boczek, Katharina Hopp, Lacey Benoit, Daniel Kraft, Margot A Cousin, Patrick R Blackburn, Charles D Madsen, Gavin R Oliver, Asha A Nair, Jie Na, Diana W Bianchi, Geoffrey Beek, Peter C Harris, Pavel Pichurin, Eric W Klee
Characterization of three ciliopathy pedigrees expands the phenotype associated with biallelic C2CD3 variants. European journal of human genetics : EJHG 26 (12) (2018)
Jennifer M Gass, Madeline Tatro, Patrick R Blackburn, Stephanie Hines, Paldeep S Atwal
BARD1 nonsense variant c.1921C>T in a patient with recurrent breast cancer. Clinical case reports 5 (2) (2017)
Patrick R Blackburn, Monique Williams, Margot A Cousin, Nicole J Boczek, Geoffrey J Beek, Gwen A Lomberk, Raul A Urrutia, Dusica Babovic-Vuksanovic, Eric W Klee
A novel de novo frameshift deletion in EHMT1 in a patient with Kleefstra Syndrome results in decreased H3K9 dimethylation. Molecular genetics & genomic medicine 5 (2) (2017)
Margot A Cousin, Eric T Matey, Patrick R Blackburn, Nicole J Boczek, Tammy M McAllister, Teresa M Kruisselbrink, Dusica Babovic-Vuksanovic, Konstantinos N Lazaridis, Eric W Klee
Pharmacogenomic findings from clinical whole exome sequencing of diagnostic odyssey patients. Molecular genetics & genomic medicine 5 (3) (2017)
Patrick R Blackburn, Sarah S Barnett, Michael T Zimmermann, Margot A Cousin, Charu Kaiwar, Filippo Pinto E Vairo, Zhiyv Niu, Matthew J Ferber, Raul A Urrutia, Duygu Selcen, Eric W Klee, Pavel N Pichurin
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 assessment, and review of published cases. Cold Spring Harbor molecular case studies 3 (3) (2017)
Patrick R Blackburn, Duygu Selcen, Jennifer M Gass, Jessica L Jackson, Sarah Macklin, Margot A Cousin, Nicole J Boczek, Eric W Klee, Elliot L Dimberg, Kathleen D Kennelly, Paldeep S Atwal
Whole exome sequencing of a patient with suspected mitochondrial myopathy reveals novel compound heterozygous variants in RYR1. Molecular genetics & genomic medicine 5 (3) (2017)
Jennifer M Gass, Patrick R Blackburn, Jessica Jackson, Sarah Macklin, Jay van Gerpen, Paldeep S Atwal
Expanded phenotype in a patient with spastic paraplegia 7. Clinical case reports 5 (10) (2017)
Montserrat Lara-Velazquez, Alexander Perdomo-Pantoja, Patrick R Blackburn, Jennifer M Gass, Thomas R Caulfield, Paldeep S Atwal
A novel splice site variant in CYP11A1 in trans with the p.E314K variant in a male patient with congenital adrenal insufficiency. Molecular genetics & genomic medicine 5 (6) (2017)
Michael T Zimmermann, Raul Urrutia, Gavin R Oliver, Patrick R Blackburn, Margot A Cousin, Nicole J Bozeck, Eric W Klee
Molecular modeling and molecular dynamic simulation of the effects of variants in the TGFBR2 kinase domain as a paradigm for interpretation of variants obtained by next generation sequencing. PloS one 12 (2) (2017)
Natasha N DeMeo, Jeremy D Burgess, Patrick R Blackburn, Jennifer M Gass, John Richter, Herjot K Atwal, Jay A van Gerpen, Paldeep S Atwal
Co-occurrence of a novel PDGFRB variant and likely pathogenic variant in CASR in an individual with extensive intracranial calcifications and hypocalcaemia. Clinical case reports 6 (1) (2017)

Patrick R Blackburn.css-eqlu8i{font-size:small;padding-left:4px;} (Patrick Blackburn)

Publication Activity (10 Years)

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Patrick R Blackburn (Patrick Blackburn)