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A

A. Micheil Innes

university of calgary

62H-index
269Paper Count
1.4WCitation Count
Published Papers 111
Publication Date
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Shared genetic basis and structure of syndromic and normal facial variation
errAmerican Journal of Human Genetics
IF8.1
err2026-08-21
err0
PREAI
errJ. David Aponte; Cassidy Da Silva; Hanne Hoskens; Seppe Goovaerts; Michiel Vanneste; Jay Devine; Katherine Caine; Alexander Buchner Beaudet; H. Artee Luchman; Seth M. Weinberg; Hilde Peeters; Ophir D. Klein; Ralph S. Marcucio; A. Micheil Innes; Peter Claes; Richard A. Spritz; Francois P. Bernier; Benedikt Hallgrímsson
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Insight into Haploinsufficiency of the ERBB4 Gene: Expanding the Spectrum of Associated Phenotypes
errJournal of Autism and Developmental Disorders
IF2.8
err2026-05-25
err0
errOAAI
errIrene Mademont-Soler; Maria Camós-Carreras; Aurore Garde; A. Micheil Innes; Dijana Perovic; Barbara Golob; Aida Palacín; Henry Joel Mroczkowski; Kameryn M. Butler; Paulien Van Galen; Gabriela Oprea; Özge Güngör; Dolors Casellas-Vidal; Gemma Hernández; Himanshu Goel; Julia Appleby; Ruzica Kravljanac; Kenya De Leon; Aboulfazl Rad; Merve Yavuz; Najim Ameziane; Asude Durmaz; Cristina Popescu; Ayça Aykut; Haluk Akın; Figen Gökçay; Ioana Mindruta; Brankica Bosankic; Renee Perrier; William Burns; Debra L. Hanna; Nela Maksimovic; Borut Peterlin; Bradley Prince; Hana Safraou; Maria Obón; Susanna Esteba-Castillo
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Loss of DOT1L disrupts neuronal transcription and leads to a neurodevelopmental disorder
errBRAIN
IF11.7
err2025-12-01
err0
PREAI
errMaroni, Marissa J.; Barton, Melissa; Lynch, Katherine; Deshwar, Ashish R.; Campbell, Philip D.; Millard, Josephine; Lee, Rachel; Cohen, Annastelle; Ahmad, Rili; Paranjapye, Alekh; Faundes, Victor; Repetto, Gabriela M.; McKenna, Caoimhe; Shillington, Amelle L.; Phornphutkul, Chanika; Hove, Hanne B.; Mancini, Grazia M. S.; Schot, Rachel; Barakat, Tahsin Stefan; Richmond, Christopher M.; Lauzon, Julie; Ibrahim, Ahmed Ibrahim Elsayed; Nava, Caroline; Heron, Delphine; van Aalst, Minke M. A.; Atemin, Slavena; Sleptsova, Mila; Aleksandrova, Iliyana; Todorova, Albena; Watkins, Debra L.; Kozenko, Mariya A.; Natera-de Benito, Daniel; Ortez, Carlos; Estevez-Arias, Berta; Lecoquierre, Francois; Cassinari, Kevin; Guerrot, Anne-Marie; Levy, Jonathan; Latypova, Xenia; Verloes, Alain; Innes, A. Micheil; Yang, Xiao-Ru; Banka, Siddharth; Vill, Katharina; Jacob, Maureen; Kruer, Michael; Skidmore, Peter; Galaz-Montoya, Carolina, I; Bakhtiari, Somayeh; Mester, Jessica L.; Granato, Michael; Armache, Karim-Jean; Costain, Gregory; Korb, Erica
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Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition
errNature Communications
IF15.7
err2025-11-10
err0
errOAAI
errGhayda M. Mirzaa; Keqin Yan; Raissa Relator; Mathieu Levesque; Pranisha Jayasinghe; Sara Timpano; Binnaz Yalcin; Stephan Collins; Alban Ziegler; Emily Pao; Nora Oyama; Elise Brischoux-Boucher; Juliette Piard; Kristin G. Monaghan; Maria. J. Guillen Sacoto; William B. Dobyns; Kristen L. Park; Daniel Martin Fernández-Mayoralas; Alberto Fernández-Jaén; Parul Jayakar; María Palomares-Bralo; Fernando Santos-Simarro; Alfredo Brusco; Vincenzo Antona; Elisa Giorgio; Malin Kvarnung; Bertrand Isidor; Solène Conrad; Benjamin Cogné; Wallid Deb; Kyra E. Stuurman; Katalin Štěrbová; Noor Smal; Sarah Weckhuysen; Renske Oegema; A. Micheil Innes; Daniel. C. Koboldt; Tawfeg Ben-Omran; Rebecca C. Yeh; Michael C. Kruer; Somayeh Bakhtiari; Antigone Papavasiliou; Sébastien Moutton; Sophie Nambot; Sirisak Chanprasert; Sarah A. Paolucci; Kait Miller; Barbara Burton; Katherine Kim; Emily O’Heir; Zandre Bruwer; Kirsten. A. Donald; Tjitske Kleefstra; Amy Goldstein; Brad Angle; Kelly Bontempo; Peter Miny; Pascal Joset; Florence Demurger; Emma Hobson; Lewis Pang; Lori Carpenter; Dong Li; Dominique Bonneau; Bekim Sadikovic; David J. Picketts
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Whole-genome sequencing reveals individual and cohort level insights into chromosome 9p syndromes
errGenome Medicine
IF11.2
err2025-10-26
err0
errOAAI
errYingxi Wang; Eleanor I. Sams; Rachel Slaugh; Sandra Crocker; Emily Cordova Hurtado; Sophia Tracy; Ying-Chen Claire Hou; Christopher Markovic; Kostandin Valle; Victoria Tate; Khadija Belhassan; Elizabeth Appelbaum; Titilope Akinwe; Rodrigo T. Starosta; Yang Cao; Amber Neilson; Yu Liu; Nathaniel Jensen; Reza Ghasemi; Tina Lindsay; Juana Manuel; Sophia Couteranis; Milinn Kremitzki; Jack Ustanik; Thomas Antonacci; Jeffrey K. Ng; Andrew Emory; Laura Metz; Tracie DeLuca; Katherine N. Lyons; Toni Sinnwell; Brianne Thomeczek; Kymme Wang; Nick Sisneros; Megha Muraleedharan; Anantha Kethireddy; Marco Corbo; Harsha Gowda; Katherine A. King; Christina A. Gurnett; Susan K. Dutcher; Catherine Gooch; Yang E. Li; Matthew W. Mitchell; Kevin A. Peterson; Amjad Horani; Jill A. Rosenfeld; Weimin Bi; Pawel Stankiewicz; Hsiao-Tuan Chao; Jennifer E. Posey; Christopher M. Grochowski; Zain Dardas; Erik G. Puffenberger; Christopher E. Pearson; Frank Kooy; Dale Annear; A. Micheil Innes; Michael Heinz; Richard Head; Robert Fulton; Stephan Toutain; Lucinda Antonacci-Fulton; Xiaoxia Cui; Robi D. Mitra; F. Sessions Cole; Julie Neidich; Patricia I. Dickson; Jeffrey Milbrandt; Tychele N. Turner
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Epilepsy due to a MED25 Homozygous Pathogenic Founder Variant
errJOURNAL OF CHILD NEUROLOGY
IF1.6
err2025-09-01
err0
PREAI
errNg, Andy Cheuk-Him; D'Alfonso, Sabrina; Innes, A. Micheil; Scantlebury, Morris H.
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An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome
erramerican journal of human genetics
IF0
err2025-08-07
err0
errOAAI
errSanaa Choufani; Vanda McNiven; Cheryl Cytrynbaum; Maryam Jangjoo; Margaret P. Adam; Hans T. Bjornsson; Jacqueline Harris; David A. Dyment; Gail E. Graham; Marjan M. Nezarati; Ritu B. Aul; Claudia Castiglioni; Jeroen Breckpot; Koen Devriendt; Helen Stewart; Benito Banos-Pinero; Sarju Mehta; Richard Sandford; Carolyn Dunn; Remi Mathevet; Lionel van Maldergem; Juliette Piard; Elise Brischoux-Boucher; Antonio Vitobello; Laurence Faivre; Marie Bournez; Frederic Tran-Mau; Isabelle Maystadt; Alberto Fernández-Jaén; Sara Alvarez; Irene Díez García-Prieto; Fowzan S. Alkuraya; Hessa S. Alsaif; Zuhair Rahbeeni; Karen El-Akouri; Mariam Al-Mureikhi; Rebecca C. Spillmann; Vandana Shashi; Pedro A. Sanchez-Lara; John M. Graham; Amy Roberts; Odelia Chorin; Gilad D. Evrony; Minna Kraatari-Tiri; Tracy Dudding-Byth; Anamaria Richardson; David Hunt; Laura Hamilton; Sarah Dyack; Bryce A. Mendelsohn; Nicolás Rodríguez; Rosario Sánchez-Martínez; Jair Tenorio-Castaño; Julián Nevado; Pablo Lapunzina; Pilar Tirado; Maria-Teresa Carminho Amaro Rodrigues; Lina Quteineh; A. Micheil Innes; Antonie D. Kline; P.Y. Billie Au; Rosanna Weksberg
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Mainstreaming of clinical genetic testing: A conceptual framework
errGenetics in Medicine
IF6.2
err2025-05-22
err0
errOAAI
errMichael P. Mackley; Julie Richer; Andrea Guerin; Oana Caluseriu; Linlea Armstrong; Katherine A. Blood; Francois Bernier; Christie Boswell-Patterson; Marisa Chard; Gregory Costain; David Dyment; Alison Eaton; Hanna Faghfoury; Patrick Frosk; Meredith K. Gillespie; Elaine S. Goh; Robin Z. Hayeems; Bita Hashemi; A. Micheil Innes; Molly Jackson; Kym M. Boycott
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De novo variants in LRRC8C resulting in constitutive channel activation cause a human multisystem disorder
errEMBO JOURNAL
IF8.3
err2024-12-02
err0
PREAI
errQuinodoz, Mathieu; Rutz, Sonja; Peter, Virginie; Garavelli, Livia; Innes, A. Micheil; Lehmann, Elena F.; Kellenberger, Stephan; Peng, Zhong; Barone, Angelica; Campos-Xavier, Belinda; Unger, Sheila; Rivolta, Carlo; Dutzler, Raimund; Superti-Furga, Andrea
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MARK2 variants cause autism spectrum disorder via the downregulation of WNT/b-catenin signaling pathway
errAMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
err2024-11-01
err1
errOAAI
errGong, Maolei; Li, Jiayi; Qin, Zailong; Wilke, Matheus Vernet Machado Bressan; Liu, Yijun; Li, Qian; Liu, Haoran; Liang, Chen; Morales-Rosado, Joel A.; Cohen, Ana S. A.; Hughes, Susan S.; Sullivan, Bonnie R.; Waddell, Valerie; van den Boogaard, Marie-Jose H.; van Jaarsveld, Richard H.; van Binsbergen, Ellen; van Gassen, Koen L.; Wang, Tianyun; Hiatt, Susan M.; Amaral, Michelle D.; Kelley, Whitley, V; Zhao, Jianbo; Feng, Weixing; Ren, Changhong; Yu, Yazhen; Boczek, Nicole J.; Ferber, Matthew J.; Lahner, Carrie; Elliott, Sherr; Ruan, Yiyan; Mignot, Cyril; Keren, Boris; Xie, Hua; Wang, Xiaoyan; Popp, Bernt; Zweier, Christiane; Piard, Juliette; Coubes, Christine; Mau-Them, Frederic Tran; Safraou, Hana; Innes, A. Micheil; Gauthier, Julie; Michaud, Jacques L.; Koboldt, Daniel C.; Sylvie, Odent; Willems, Marjolaine; Tan, Wen-Hann; Cogne, Benjamin; Rieubland, Claudine; Braun, Dominique; Mclean, Scott Douglas; Platzer, Konrad; Zacher, Pia; Oppermann, Henry; Evenepoel, Lucie; Blanc, Pierre; El Khattabi, Laila; Haque, Neshatul; Dsouza, Nikita R.; Zimmermann, Michael T.; Urrutia, Raul; Klee, Eric W.; Shen, Yiping; Du, Hongzhen; Rappaport, Leonard; Liu, Chang-Mei; Chen, Xiaoli
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Variants of NAV3, a neuronal morphogenesis protein, cause intellectual disability, developmental delay, and microcephaly
errCOMMUNICATIONS BIOLOGY
IF5.1
err2024-07-08
err2
errOAAI
errGhaffar, Amama; Akhter, Tehmeena; Stromme, Petter; Misceo, Doriana; Khan, Amjad; Frengen, Eirik; Umair, Muhammad; Isidor, Bertrand; Cogne, Benjamin; Khan, Asma A.; Bruel, Ange-Line; Sorlin, Arthur; Kuentz, Paul; Chiaverini, Christine; Innes, A. Micheil; Zech, Michael; Balaz, Marek; Havrankova, Petra; Jech, Robert; Ahmed, Zubair M.; Riazuddin, Sheikh; Riazuddin, Saima
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A recurrent missense variant in the E3 ubiquitin ligase substrate recognition subunit FEM1B causes a rare disorder
errGENETICS IN MEDICINE
IF6.2
err2024-06-01
err1
errOAAI
errLecoquierre, Francois; Punt, A. Mattijs; Ebstein, Frederic; Wallaard, Ilse; Verhagen, Rob; Studencka-Turski, Maja; Duffourd, Yannis; Moutton, Se bastien; Mau-Them, Frededic Tran; Philippe, Christophe; Dean, John; Tennant, Stephen; Brooks, Alice S.; van Slegtenhorst, Marjon A.; Jurgens, Julie A.; Barry, Brenda J.; Chan, Wai-Man; England, Eleina M.; Ojeda, Mayra Martinez; Engle, Elizabeth C.; Robson, Caroline D.; Morrow, Michelle; Innes, A. Micheil; Lamont, Ryan; Sanderson, Matthea; Krger, Elke; Thauvin, Christel; Distel, Ben; Faivre, Laurence; Elgersma, Ype; Vitobello, Antonio
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De novo variants in ATXN7L3 lead to developmental delay, hypotonia and distinctive facial features
errBRAIN
IF11.7
err2024-05-16
err1
errOAAI
errHarel, Tamar; Spicher, Camille; Scheer, Elisabeth; Buchan, Jillian G.; Cech, Jennifer; Folland, Chiara; Frey, Tanja; Holtz, Alexander M.; Innes, A. Micheil; Keren, Boris; Macken, William L.; Marcelis, Carlo; Otten, Catherine E.; Paolucci, Sarah A.; Petit, Florence; Pfundt, Rolph; Pitceathly, Robert D. S.; Rauch, Anita; Ravenscroft, Gianina; Sanchev, Rani; Steindl, Katharina; Tammer, Femke; Tyndall, Amanda; Devys, Didier; Vincent, Stephane D.; Elpeleg, Orly; Tora, Laszlo
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errSave
Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt
errAMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
err2024-03-01
err4
errOAAI
errShepherdson, James L.; Hutchison, Katie; Don, Dilan Wellalage; McGillivray, George; Choi, Tae-Ik; Allan, Carolyn A.; Amor, David J.; Banka, Siddharth; Basel, Donald G.; Buch, Laura D.; Carere, Deanna Alexis; Carroll, Renee; Clayton-Smith, Jill; Crawford, Ali; Duno, Morten; Faivre, Laurence; Gilfillan, Christopher P.; Gold, Nina B.; Gripp, Karen W.; Hobson, Emma; Holtz, Alexander M.; Innes, A. Micheil; Isidor, Bertrand; Jackson, Adam; Katsonis, Panagiotis; Kesh, Leila Amel Riazat; Kury, Sebastien; Lecoquierre, Francois; Lockhart, Paul; Maraval, Julien; Matsumoto, Naomichi; McCarrier, Julie; McCarthy, Josephine; Miyake, Noriko; Moey, Lip Hen; Nemeth, Andrea H.; Ostergaard, Elsebet; Patel, Rushina; Pope, Kate; Posey, Jennifer E.; Schnur, Rhonda E.; Shaw, Marie; Stolerman, Elliot; Taylor, Julie P.; Wadman, Erin; Wakeling, Emma; White, Susan M.; Wong, Lawrence C.; Lupski, James R.; Lichtarge, Olivier; Corbett, Mark A.; Gecz, Jozef; Nicolet, Charles M.; Farnham, Peggy J.; Kim, Cheol-Hee; Shinawi, Marwan
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DAG1 haploinsufficiency is associated with sporadic and familial isolated or pauci-symptomatic hyperCKemia
errEUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
err2024-01-04
err3
errOAAI
errTraverso, Monica; Baratto, Serena; Iacomino, Michele; Di Duca, Marco; Panicucci, Chiara; Casalini, Sara; Grandis, Marina; Falace, Antonio; Torella, Annalaura; Picillo, Esther; Onore, Maria Elena; Politano, Luisa; Nigro, Vincenzo; Innes, A. Micheil; Barresi, Rita; Bruno, Claudio; Zara, Federico; Fiorillo, Chiara; Scala, Marcello
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errSave
TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions
errBRAIN
IF11.7
err2023-09-15
err3
PREAI
errAlmousa, Hashem; Lewis, Sara A.; Bakhtiari, Somayeh; Nordlie, Sandra Hinz; Pagnozzi, Alex; Magee, Helen; Efthymiou, Stephanie; Heim, Jennifer A.; Cornejo, Patricia; Zaki, Maha S.; Anwar, Najwa; Maqbool, Shazia; Rahman, Fatima; Neilson, Derek E.; Vemuri, Anusha; Jin, Sheng Chih; Yang, Xiao-Ru; Heidari, Abolfazl; van Gassen, Koen; Trimouille, Aurelien; Thauvin-Robinet, Christel; Liu, James; Bruel, Ange-Line; Tomoum, Hoda; Shata, Mennatallah O.; Hashem, Mais O.; Toosi, Mehran Beiraghi; Karimiani, Ehsan Ghayoor; Yesil, Gozde; Lingappa, Lokesh; Baruah, Debangana; Ebrahimzadeh, Farnoosh; Van-Gils, Julien; Faivre, Laurence; Zamani, Mina; Galehdari, Hamid; Sadeghian, Saeid; Shariati, Gholamreza; Mohammad, Rahema; van der Smagt, Jasper; Qari, Alya; Vincent, John B.; Innes, A. Micheil; Dursun, Ali; Ozgul, R. Koksal; Akar, Halil Tuna; Bilguvar, Kaya; Mignot, Cyril; Keren, Boris; Raveli, Claudia; Burglen, Lydie; Afenjar, Alexandra; Kaat, Laura Donker; van Slegtenhorst, Marjon; Alkuraya, Fowzan; Houlden, Henry; Padilla-Lopez, Sergio; Maroofian, Reza; Sacher, Michael; Kruer, Michael C.
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De novo variants in GATAD2A in individuals with a neurodevelopmental disorder: GATAD2A-related neurodevelopmental disorder
errHUMAN GENETICS AND GENOMICS ADVANCES
IF3.6
err2023-07-01
err1
errOAAI
errWerren, Elizabeth A.; Guxholli, Alba; Jones, Natasha; Wagner, Matias; Hannibal, Iris; Granadillo, Jorge L.; Tyndall, Amanda, V; Moccia, Amanda; Kuehl, Ryan; Levandoski, Kristin M.; Day-Salvatore, Debra L.; Wheeler, Marsha; Chong, Jessica X.; Bamshad, Michael J.; Innes, A. Micheil; Pierson, Tyler Mark; Mackay, Joel P.; Bielas, Stephanie L.; Martin, Donna M.
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A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder
errHUMAN GENETICS AND GENOMICS ADVANCES
IF3.6
err2023-01-01
err7
errOAAI
errBlok, Lot Snijders; Verseput, Jolijn; Rots, Dmitrijs; Venselaar, Hanka; Innes, A. Micheil; Stumpel, Connie; Ounap, Katrin; Reinson, Karit; Seaby, Eleanor G.; McKee, Shane; Burton, Barbara; Kim, Katherine; van Hagen, Johanna M.; Waisfisz, Quinten; Joset, Pascal; Steindl, Katharina; Rauch, Anita; Li, Dong; Zackai, Elaine H.; Sheppard, Sarah E.; Keena, Beth; Hakonarson, Hakon; Roos, Andreas; Kohlschmidt, Nicolai; Cereda, Anna; Iascone, Maria; Rebessi, Erika; Kernohan, Kristin D.; Campeau, Philippe M.; Millan, Francisca; Taylor, Jesse A.; Lochmuller, Hanns; Higgs, Martin R.; Goula, Amalia; Bernhard, Birgitta; Velasco, Danita J.; Schmanski, Andrew A.; Stark, Zornitza; Gallacher, Lyndon; Pais, Lynn; Marcogliese, Paul C.; Yamamoto, Shinya; Raun, Nicholas; Jakub, Taryn E.; Kramer, Jamie M.; den Hoed, Joery; Fisher, Simon E.; Brunner, Han G.; Kleefstra, Tjitske
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errSave
Care4Rare Canada: Outcomes from a decade of network science for rare disease gene discovery
errAMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
err2022-11-01
err22
errOAAI
errBoycott, Kym M.; Hartley, Taila; Kernohan, Kristin D.; Dyment, David A.; Howley, Heather; Innes, A. Micheil; Bernier, Francois P.; Brudno, Michael
errShare
errSave
An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome
errAMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
err2022-10-01
err17
errOAAI
errChoufani, Sanaa; McNiven, Vanda; Cytrynbaum, Cheryl; Jangjoo, Maryam; Adam, Margaret P.; Bjornsson, Hans T.; Harris, Jacqueline; Dyment, David A.; Graham, Gail E.; Nezarati, Marjan M.; Aul, Ritu B.; Castiglioni, Claudia; Breckpot, Jeroen; Devriendt, Koen; Stewart, Helen; Banos-Pinero, Benito; Mehta, Sarju; Sandford, Richard; Dunn, Carolyn; Mathevet, Remi; van Maldergem, Lionel; Piard, Juliette; Brischoux-Boucher, Elise; Vitobello, Antonio; Faivre, Laurence; Bournez, Marie; Tran-Mau, Frederic; Maystadt, Isabelle; Fernandez-Jaen, Alberto; Alvarez, Sara; Garcia-Prieto, Irene Diez; Alkuraya, Fowzan S.; Alsaif, Hessa S.; Rahbeeni, Zuhair; El-Akouri, Karen; Al-Mureikhi, Mariam; Spillmann, Rebecca C.; Shashi, Vandana; Sanchez-Lara, Pedro A.; Graham, John M., Jr.; Roberts, Amy; Chorin, Odelia; Evrony, Gilad D.; Kraatari-Tiri, Minna; Dudding-Byth, Tracy; Richardson, Anamaria; Hunt, David; Hamilton, Laura; Dyack, Sarah; Mendelsohn, Bryce A.; Rodriguez, Nicolas; Sanchez-Martinez, Rosario; Tenorio-Castano, Jair; Nevado, Julian; Lapunzina, Pablo; Tirado, Pilar; Rodrigues, Maria-Teresa Carminho Amaro; Quteineh, Lina; Innes, A. Micheil; Kline, Antonie D.; Au, P. Y. Billie; Weksberg, Rosanna
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Research Directions

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