Tamar Harel (T Harel)

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 33

Top Topics

Intellectual Disability

Top Venues

American journal of medical genetics. Part A

Journal of medical genetics

Life science alliance

European journal of human genetics : EJHG

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

Publications

Intisar Koch, Maya Slovik, Yuling Zhang, Bingyu Liu, Martin Luke Rennie, Emily Konz, Benjamin Cogne, Muhannad Daana, Laura Davids, Illja J Diets, Nina B Gold, Alexander M Holtz, Bertrand Isidor, Hagar Mor-Shaked, Juanita Neira Fresneda, Karen Y Niederhoffer, Mathilde Nizon, Rolph Pfundt, Meh Simon, Alexander P A Stegmann, Maria J Guillen Sacoto, Marijke R Wevers, Tahsin Stefan Barakat, Shira Yanovsky-Dagan, Boyko S Atanassov, Rachel Toth, Chengjiang Gao, Francisco Bustos, Tamar Harel
USP27X variants underlying X-linked intellectual disability disrupt protein function via distinct mechanisms. Life science alliance 7 (3) (2024)
Tamar Harel, Camille Spicher, Elisabeth Scheer, Jillian G Buchan, Jennifer Cech, Chiara Folland, Tanja Frey, Alexander M Holtz, A Micheil Innes, Boris Keren, William L Macken, Carlo Marcelis, Catherine E Otten, Sarah A Paolucci, Florence Petit, Rolph Pfundt, Robert D S Pitceathly, Anita Rauch, Gianina Ravenscroft, Rani Sanchev, Katharina Steindl, Femke Tammer, Amanda Tyndall, Didier Devys, Stéphane D Vincent, Orly Elpeleg, Làszlò Tora
De novo variants in ATXN7L3 lead to developmental delay, hypotonia and distinctive facial features. Brain : a journal of neurology (2024)
Intisar Koch, Maya Slovik, Yuling Zhang, Bingyu Liu, Martin Luke Rennie, Emily Konz, Benjamin Cogne, Muhannad Daana, Laura Davids, Illja J Diets, Nina B Gold, Alexander M Holtz, Bertrand Isidor, Hagar Mor-Shaked, Juanita Neira Fresneda, Karen Y Niederhoffer, Mathilde Nizon, Rolph Pfundt, Meh Simon, Alexander P A Stegmann, Maria J Guillen Sacoto, Marijke R Wevers, Tahsin Stefan Barakat, Shira Yanovsky-Dagan, Boyko S Atanassov, Rachel Toth, Chengjiang Gao, Francisco Bustos, Tamar Harel
USP27X variants underlying X-linked intellectual disability disrupt protein function via distinct mechanisms. Life science alliance 7 (3) (2024)
Intisar Koch, Maya Slovik, Yuling Zhang, Bingyu Liu, Martin Luke Rennie, Emily Konz, Benjamin Cogne, Muhannad Daana, Laura Davids, Illja J Diets, Nina B Gold, Alexander M Holtz, Bertrand Isidor, Hagar Mor-Shaked, Juanita Neira Fresneda, Karen Y Niederhoffer, Mathilde Nizon, Rolph Pfundt, Meh Simon, Alexander P A Stegmann, Maria J Guillen Sacoto, Marijke R Wevers, Tahsin Stefan Barakat, Shira Yanovsky-Dagan, Boyko S Atanassov, Rachel Toth, Chengjiang Gao, Francisco Bustos, Tamar Harel
USP27X variants underlying X-linked intellectual disability disrupt protein function via distinct mechanisms. Life science alliance 7 (3) (2024)
Tamar Harel, Camille Spicher, Elisabeth Scheer, Jillian G Buchan, Jennifer Cech, Chiara Folland, Tanja Frey, Alexander M Holtz, A Micheil Innes, Boris Keren, William L Macken, Carlo Marcelis, Catherine E Otten, Sarah A Paolucci, Florence Petit, Rolph Pfundt, Robert D S Pitceathly, Anita Rauch, Gianina Ravenscroft, Rani Sanchev, Katharina Steindl, Femke Tammer, Amanda Tyndall, Didier Devys, Stephane D Vincent, Orly Elpeleg, Làszlò Tora
De novo variants in ATXN7L3 lead to developmental delay, hypotonia and distinctive facial features. Brain : a journal of neurology 147 (8) (2024)
Shir Confino, Yair Wexler, Adar Medvetzky, Yotam Elazary, Zohar Ben-Moshe, Joel Reiter, Talya Dor, Simon Edvardson, Gali Prag, Tamar Harel, Yoav Gothilf
A deleterious variant of INTS1 leads to disrupted sleep-wake cycles. Disease models & mechanisms 17 (8) (2024)
Intisar Koch, Maya Slovik, Yuling Zhang, Bingyu Liu, Martin Luke Rennie, Emily Konz, Benjamin Cogne, Muhannad Daana, Laura Davids, Illja J Diets, Nina B Gold, Alexander M Holtz, Bertrand Isidor, Hagar Mor-Shaked, Juanita Neira Fresneda, Karen Y Niederhoffer, Mathilde Nizon, Rolph Pfundt, Meh Simon, Alexander P A Stegmann, Maria J Guillen Sacoto, Marijke R Wevers, Tahsin Stefan Barakat, Shira Yanovsky-Dagan, Boyko S Atanassov, Rachel Toth, Chengjiang Gao, Francisco Bustos, Tamar Harel
USP27X variants underlying X-linked intellectual disability disrupt protein function via distinct mechanisms. Life science alliance 7 (3) (2024)
Sébastien Küry, Janelle E Stanton, Geeske M van Woerden, Tzung-Chien Hsieh, Cory Scott Rosenfelt, Marie-Pier Scott-Boyer, Victoria Most, Tianyun Wang, Jonas Johannes Papendorf, Charlotte de Konink, Wallid Deb, Virginie Vignard, Maja Studencka-Turski, Thomas Besnard, Anna Marta Hajdukowicz, Franziska Thiel, Sophie Möller, Laëtitia Florenceau, Silvestre Cuinat, Sylvain Marsac, Ingrid Wentzensen, Annabelle Tuttle, Cara Forster, Johanna Striesow, Richard Golnik, Damara Ortiz, Laura Jenkins, Jill Anne Rosenfeld, Alban Ziegler, Clara Houdayer, Dominique Bonneau, Erin Torti, Amber Begtrup, Kristin G Monaghan, Sureni V Mullegama, C M L Nienke Volker-Touw, Koen L I van Gassen, Renske Oegema, Mirjam de Pagter, Katharina Steindl, Anita Rauch, Ivan Ivanovski, Kimberly McDonald, Emily Boothe, Andrew Dauber, Janice Baker, Noelle Andrea V Fabie, Raphael A Bernier, Tychele N Turner, Siddharth Srivastava, Kira A Dies, Lindsay Swanson, Carrie Costin, Rebekah K Jobling, John G Pappas, Rachel Rabin, Dmitriy Niyazov, Anne Chun-Hui Tsai, Karen Kovak, David B Beck, May Christine V Malicdan, David R Adams, Lynne Wolfe, Rebecca D Ganetzky, Colleen Muraresku, Davit Babikyan, Zdenek Sedlacek, Miroslava Hancarova, Andrew T Timberlake, Hind Al Saif, Berkley Nestler, Kayla King, M J Hajianpour, Gregory Costain, D'Arcy Prendergast, Chumei Li, David Genevieve, Antonio Vitobello, Arthur Sorlin, Christophe Philippe, Tamar Harel, Ori Toker, Ataf Hussain Sabir, Derek Lim, Mark Hamilton, Lisa Bryson, Elaine Cleary, Sacha Weber, Trevor L Hoffman, Anna Maria Cueto-González, Eduardo Fidel Tizzano, David Gomez Andres, Marta Codina Solà, Athina Ververi, Efterpi Pavlidou, Alexandros Lambropoulos, Kyriakos Garganis, Marlène Rio, Jonathan Levy, Sarah Jurgensmeyer, Anne M McRae, Mathieu Kent Lessard, Maria Daniela D'Agostino, Isabelle De Bie, Meret Wegler, Rami Abou Jamra, Susanne B Kamphausen, Viktoria Bothe, Larissa M Busch, Uwe Völker, Elke Hammer, Kristian Wende, Benjamin Cogné, Bertrand Isidor, Jens Meiler, Amélie Bosc-Rosati, Julien Marcoux, Marie-Pierre Bousquet, Jeremie Poschmann, Frederic Laumonnier, Peter W Hildebrand, Evan E Eichler, Kirsty McWalter, Peter M Krawitz, Arnaud Droit, Ype Elgersma, Andreas Martin Grabrucker, Francois V Bolduc, Stephane Bezieau, Frédéric Ebstein, Elke Krüger
Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies. medRxiv : the preprint server for health sciences (2024)
Intisar Koch, Maya Slovik, Yuling Zhang, Bingyu Liu, Martin Luke Rennie, Emily Konz, Benjamin Cogne, Muhannad Daana, Laura Davids, Illja J Diets, Nina B Gold, Alexander M Holtz, Bertrand Isidor, Hagar Mor-Shaked, Juanita Neira Fresneda, Karen Y Niederhoffer, Mathilde Nizon, Rolph Pfundt, Meh Simon, Alexander P A Stegmann, Maria J Guillen Sacoto, Marijke R Wevers, Tahsin Stefan Barakat, Shira Yanovsky-Dagan, Boyko S Atanassov, Rachel Toth, Chengjiang Gao, Francisco Bustos, Tamar Harel
USP27X variants underlying X-linked intellectual disability disrupt protein function via distinct mechanisms. Life science alliance 7 (3) (2024)
Alisa Mo, Emuna Paz-Ebstein, Shira Yanovsky-Dagan, Abbe Lai, Hagar Mor-Shaked, Tal Gilboa, Edward Yang, Diane D Shao, Christopher A Walsh, Tamar Harel
A recurrent de novo variant in NUSAP1 escapes nonsense-mediated decay and leads to microcephaly, epilepsy, and developmental delay. Clinical genetics (2023)
Somaya Salah, Hiba Jaber, Ayala Frumkin, Tamar Harel
Homozygous 22q11.2 distal type II microdeletion is associated with syndromic neurodevelopmental delay. American journal of medical genetics. Part A (2023)
Eden Engal, Kaisa Teele Oja, Reza Maroofian, Ophir Geminder, Thuy-Linh Le, Evyatar Mor, Naama Tzvi, Naama Elefant, Maha Saad Zaki, Joseph G Gleeson, Kai Muru, Sander Pajusalu, Monica Hsiung Wojcik, Divya Pachat, Marwa Abd Elmaksoud, Won Chan Jeong, Hane Lee, Peter Bauer, Giovanni Zifarelli, Henry Houlden, Orly Elpeleg, Chris Gordon, Tamar Harel, Katrin Õunap, Maayan Salton, Hagar Mor-Shaked
Biallelic loss of function variants in WBP4 , encoding a spliceosome protein, result in a variable neurodevelopmental delay syndrome. medRxiv : the preprint server for health sciences (2023)
Rivka Birnbaum, Shlomit Ezer, Nava Shaul Lotan, Avital Eilat, Keren Sternlicht, Lilach Benyamini, Orit Reish, Tzipora C Falik-Zaccai, Gali Ben-Gad, Raya Rod, Reeval Segel, Katherine Kim, Barabra Burton, Catherine E Keegan, Mallory Wagner, Lindsay B Henderson, Nofar Mor, Ortal Barel, Yoel Hirsch, Vardiella Meiner, Orly Elpeleg, Tamar Harel, Hagar Mor-Shaked
Intellectual disability syndrome associated with a homozygous founder variant in SGSM3 in Ashkenazi Jews. Journal of medical genetics (2023)
Avivit Cahn, Hagar Mor-Shaked, Hallel Rosenberg-Fogler, Rena Pollack, Bas Tolhuis, Gaurav Sharma, Eric Schultz, Shira Yanovsky-Dagan, Tamar Harel
Complex rearrangement in TBC1D4 in an individual with diabetes due to severe insulin resistance syndrome. European journal of human genetics : EJHG (2023)
Monica Penon-Portmann, Mohammad K Eldomery, Lorraine Potocki, Dana Marafi, Jennifer E Posey, Zeynep Coban-Akdemir, Tamar Harel, Christopher M Grochowski, Hailey Loucks, Walter Patrick Devine, Jessica Van Ziffle, Daniel A Doherty, James R. Lupski, Joseph T C Shieh
De novo heterozygous variants in SLC30A7 are a candidate cause for Joubert syndrome. American journal of medical genetics. Part A 188 (8) (2022)
Reza Maroofian, Stephanie Efthymiou, Mohnish Suri, Fatima Rahman, Maha Saad Zaki, Shazia Maqbool, Najwa Anwa, Victor L Ruiz-Pérez, Shira Yanovsky-Dagan, Orly Elpeleg, Sniya Sudhakar, Kshitij Mankad, Tamar Harel, Henry Houlden
Consolidating the association of biallelic MAPKAPK5 pathogenic variants with a distinct syndromic neurodevelopmental disorder. Journal of medical genetics (2022)
Reza Maroofian, Stephanie Efthymiou, Mohnish Suri, Fatima Rahman, Maha Saad Zaki, Shazia Maqbool, Najwa Anwa, Victor L Ruiz-Pérez, Shira Yanovsky-Dagan, Orly Elpeleg, Sniya Sudhakar, Kshitij Mankad, Tamar Harel, Henry Houlden
Consolidating the association of biallelic MAPKAPK5 pathogenic variants with a distinct syndromic neurodevelopmental disorder. Journal of medical genetics (2022)
Hyung-Lok Chung, Patrick Rump, Di Lu, Megan R Glassford, Jung-Wan Mok, Jawid Fatih, Adily Basal, Paul C Marcogliese, Oguz Kanca, Michele Rapp, Johanna M Fock, Erik-Jan Kamsteeg, James R Lupski, Austin Larson, Mark C Haninbal, Hugo Bellen, Tamar Harel
De novo variants in EMC1 lead to neurodevelopmental delay and cerebellar degeneration and affect glial function in Drosophila. Human molecular genetics 31 (19) (2022)
Reza Maroofian, Stephanie Efthymiou, Mohnish Suri, Fatima Rahman, Maha Saad Zaki, Shazia Maqbool, Najwa Anwa, Victor L Ruiz-Pérez, Shira Yanovsky-Dagan, Orly Elpeleg, Sniya Sudhakar, Kshitij Mankad, Tamar Harel, Henry Houlden
Consolidating the association of biallelic MAPKAPK5 pathogenic variants with a distinct syndromic neurodevelopmental disorder. Journal of medical genetics (2022)
Bassam Abu-Libdeh, Hagar Mor-Shaked, Amir A Atawna, David Gillis, Orli Halstuk, Nava Shaul-Lotan, Mordechai Slae, Mutaz Sultan, Vardiella Meiner, Orly Elpeleg, Tamar Harel
Homozygous variant in MADD, encoding a Rab guanine nucleotide exchange factor, results in pleiotropic effects and a multisystemic disorder. European journal of human genetics : EJHG 29 (6) (2021)
Hagar Mor-Shaked, Emuna Paz-Ebstein, Adily Basal, Simona Ben-Haim, Hanna Grobe, Sami Heymann, Zvi Israel, Montaser Namnah, Anat Nitzan, Chaggai Rosenbluh, Ann Saada, Tomer Tzur, Shira Yanovsky-Dagan, Ronen Zaidel-Bar, Tamar Harel, David Arkadir
Levodopa-responsive dystonia caused by biallelic PRKN exon inversion invisible to exome sequencing. Brain communications 3 (3) (2021)
Hagar Mor-Shaked, Somaya Salah, Shira Yanovsky-Dagan, Vardiella Meiner, Osama M Atawneh, Bassam Abu-Libdeh, Orly Elpeleg, Tamar Harel
Biallelic deletion in a minimal CAPN15 intron in siblings with a recognizable syndrome of congenital malformations and developmental delay. Clinical genetics 99 (4) (2021)
Morasha Plesser Duvdevani, Maria Pettersson, Jesper Eisfeldt, Ortal Avraham, Judith Dagan, Ayala Frumkin, James R. Lupski, Anna Lindstrand, Tamar Harel
Whole-genome sequencing reveals complex chromosome rearrangement disrupting NIPBL in infant with Cornelia de Lange syndrome. American journal of medical genetics. Part A 182 (5) (2020)
Hagar Mor-Shaked, Jonathan Rips, Shiri Gershon Naamat, Avichai Reich, Orly Elpeleg, Vardiella Meiner, Tamar Harel
Parental exome analysis identifies shared carrier status for a second recessive disorder in couples with an affected child. European journal of human genetics : EJHG 29 (3) (2020)
Hagit Daum, Hagar Mor-Shaked, Asaf Ta-Shma, Avraham Shaag, Shira Silverstein, Mordechai Shohat, Orly Elpeleg, Vardiella Meiner, Tamar Harel
Grandparental genotyping enhances exome variant interpretation. American journal of medical genetics. Part A 182 (4) (2020)
Julien Buratti, Lei Ji, Boris Keren, Youngha Lee, Stephanie Booke, Serkan Erdin, Soo Yeon Kim, Timothy Blake Palculict, Vardiella Meiner, Jong Hee Chae, Christopher Geoffrey Woods, Allison Tam, Delphine Héron, Feng Cong, Tamar Harel
De novo variants in SIAH1, encoding an E3 ubiquitin ligase, are associated with developmental delay, hypotonia and dysmorphic features. Journal of medical genetics 58 (3) (2020)
Jonathan Rips, Hagar Mor-Shaked, Serkan Erdin, Shira Yanovsky-Dagan, Smadar Eventov-Friedman, Tamar Harel
De novo variant in AMOTL1 in infant with cleft lip and palate, imperforate anus and dysmorphic features. American journal of medical genetics. Part A 185 (1) (2020)
Bassam Abu-Libdeh, Motee Ashhab, Maher Shahrour, Muhannad Daana, Anwar Dudin, Orly Elpeleg, Simon Edvardson, Tamar Harel
Homozygous frameshift variant in NTNG2, encoding a synaptic cell adhesion molecule, in individuals with developmental delay, hypotonia, and autistic features. Neurogenetics 20 (4) (2019)
Lina Berkun, Mordechai Slae, Hagar Mor-Shaked, Benjamin Koplewitz, Smadar Eventov-Friedman, Tamar Harel
Homozygous variants in MAPRE2 and CDON in individual with skin folds, growth delay, retinal coloboma, and pyloric stenosis. American journal of medical genetics. Part A 179 (12) (2019)
Tamar Harel, Ephrat Levy-Lahad, Muhannad Daana, Hadas Mechoulam, Smadar Horowitz-Cederboim, Michal Gur, Vardiella Meiner, Orly Elpeleg
Homozygous stop-gain variant in LRRC32, encoding a TGFβ receptor, associated with cleft palate, proliferative retinopathy, and developmental delay. European journal of human genetics : EJHG 27 (8) (2019)
Tamar Harel, Debra Q Y Quek, Bernice H Wong, Amaury Cazenave-Gassiot, Markus R Wenk, Hao Fan, Itai Berger, Dorit Shmueli, Avraham Shaag, David L Silver, Orly Elpeleg, Shimon Edvardson
Homozygous mutation in MFSD2A, encoding a lysolipid transporter for docosahexanoic acid, is associated with microcephaly and hypomyelination. Neurogenetics 19 (4) (2018)
Tamar Harel, J R Lupski
Genomic disorders 20 years on-mechanisms for clinical manifestations. Clinical genetics 93 (3) (2017)
Tamar Harel, Nuphar Hacohen, Avraham Shaag, Moshe Gomori, Amihood Singer, Orly Elpeleg, Vardiella Meiner
Homozygous null variant in CRADD, encoding an adaptor protein that mediates apoptosis, is associated with lissencephaly. American journal of medical genetics. Part A 173 (9) (2017)