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John M. Graham

1973–2023 年に発表

137
論文数
20,668
被引用数
90
h 指数
135
i10 指数

被引用数

John M. Graham の年別被引用数1955 年: 被引用 2 件1961 年: 被引用 1 件1974 年: 被引用 1 件1975 年: 被引用 2 件1976 年: 被引用 5 件1977 年: 被引用 7 件1978 年: 被引用 8 件1979 年: 被引用 6 件1980 年: 被引用 3 件1981 年: 被引用 4 件1982 年: 被引用 3 件1983 年: 被引用 2 件1984 年: 被引用 7 件1985 年: 被引用 10 件1986 年: 被引用 15 件1987 年: 被引用 18 件1988 年: 被引用 11 件1989 年: 被引用 11 件1990 年: 被引用 27 件1991 年: 被引用 29 件1992 年: 被引用 64 件1993 年: 被引用 58 件1994 年: 被引用 39 件1995 年: 被引用 37 件1996 年: 被引用 27 件1997 年: 被引用 46 件1998 年: 被引用 59 件1999 年: 被引用 84 件2000 年: 被引用 65 件2001 年: 被引用 61 件2002 年: 被引用 83 件2003 年: 被引用 105 件2004 年: 被引用 116 件2005 年: 被引用 148 件2006 年: 被引用 126 件2007 年: 被引用 149 件2008 年: 被引用 167 件2009 年: 被引用 167 件2010 年: 被引用 142 件2011 年: 被引用 145 件2012 年: 被引用 121 件2013 年: 被引用 132 件2014 年: 被引用 166 件2015 年: 被引用 141 件2016 年: 被引用 121 件2017 年: 被引用 108 件2018 年: 被引用 97 件2019 年: 被引用 356 件2020 年: 被引用 345 件2021 年: 被引用 376 件2022 年: 被引用 222 件2023 年: 被引用 160 件2024 年: 被引用 250 件2025 年: 被引用 86 件2026 年: 被引用 4 件1956〜1960 年は被引用が無いため表示していません1962〜1973 年は被引用が無いため表示していません

引用元

国・地域

この著者を引用した国・地域の世界地図アメリカ合衆国: 引用元論文 2,135 件、この内訳の 29.9%イギリス: 引用元論文 587 件、この内訳の 8.2%ドイツ: 引用元論文 429 件、この内訳の 6%カナダ: 引用元論文 428 件、この内訳の 6%フランス: 引用元論文 407 件、この内訳の 5.7%イタリア: 引用元論文 371 件、この内訳の 5.2%オランダ: 引用元論文 315 件、この内訳の 4.4%オーストラリア: 引用元論文 256 件、この内訳の 3.6%中国: 引用元論文 223 件、この内訳の 3.1%スペイン: 引用元論文 162 件、この内訳の 2.3%日本: 引用元論文 161 件、この内訳の 2.3%ベルギー: 引用元論文 153 件、この内訳の 2.1%
0%29.9%その他 21.2%

機関

分野

  • Biochemistry, Genetics and Molecular Biology52.4%
  • Medicine32.4%
  • Neuroscience10.2%
  • Psychology1.3%
  • Immunology and Microbiology0.8%
  • Engineering0.7%
  • その他2.2%

トピック

  • Genetics and Neurodevelopmental Disorders3.9%
  • Genomic variations and chromosomal abnormalities3.2%
  • Genomics and Rare Diseases2.6%
  • Genetic Syndromes and Imprinting2.5%
  • Epigenetics and DNA Methylation2.4%
  • Hedgehog Signaling Pathway Studies2%
  • その他83.4%

共著者

全論文

検索で開く
  1. De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

    著者: Jean-Baptiste Rivière, Ghayda Mirzaa, Brian J. O’Roak, Margaret Beddaoui, Diana Alcantara, Robert L. Conway, Judith St‐Onge, Jeremy Schwartzentruber, Karen W. Gripp, Sarah M. Nikkel, Thea Worthylake, Christopher T. Sullivan, Thomas Ward, Hailly E Butler, Nancy Kramer, Beate Albrecht, Christine M. Armour, Linlea Armstrong, Oana Caluseriu, Cheryl Cytrynbaum, Beth A. Drolet, A. Micheil Innes, Julie Lauzon, Angela E. Lin, Grazia M.S. Mancini, Wendy S. Meschino, James D. Reggin, Anand Saggar, Tally Lerman‐Sagie, Gökhan Uyanık, Rosanna Weksberg, Birgit Zirn, Chandree L. Beaulieu, Jacek Majewski, Dennis E. Bulman, Mark O’Driscoll, Jay Shendure, John M. Graham, Kym M. Boycott, William B. Dobyns - Nature Genetics 2012 被引用: 753

  2. Canadian Spontaneous Coronary Artery Dissection Cohort Study

    著者: Jacqueline Saw, Andrew Starovoytov, Eve Aymong, Taku Inohara, Mesfer Alfadhel, Cameron McAlister, Rohit Samuel, Tejana Grewal, Johandra Argote Parolis, Tej Sheth, Derek So, Kunal Minhas, Neil Brass, Andrea Lavoie, Helen Bishop, Shahar Lavi, Colin Pearce, Suzanne Renner, Mina Madan, Robert C. Welsh, Brent M McGrath, Ram Vijayaraghavan, Bryan Har, Réda Ibrahim, Pulkit Chaudhary, Santhi K. Ganesh, John M. Graham, Alexis Matteau, Giuseppe Martucci, Dennis T. Ko, Karin H. Humphries, GB John Mancini - Journal of the American College of Cardiology 2022 被引用: 143

  3. Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5

    著者: Margaret J. McMillin, Anita E. Beck, Jessica X. Chong, Kathryn M. Shively, Kati J. Buckingham, Heidi Gildersleeve, Mariana Aracena, Arthur S. Aylsworth, Pierre Bitoun, John C. Carey, Carol L. Clericuzio, Yanick J. Crow, Cynthia J. Curry, Koenraad Devriendt, David B. Everman, Alan Fryer, Kate Gibson, Maria Luisa Giovannucci Uzielli, John M. Graham, Judith G. Hall, Jacqueline T. Hecht, Randall A. Heidenreich, Jane A. Hurst, Sarosh R. Irani, Ingrid P.C. Krapels, Jules G. Leroy, David Mowat, Gordon T. Plant, Stephen P. Robertson, Elizabeth K. Schorry, Richard H. Scott, Laurie H. Seaver, Elliott H. Sherr, Miranda Splitt, Helen Stewart, Constance T. R. M. Stumpel, Şehime Gülsün Temel, David D. Weaver, Margo Whiteford, Marc S. Williams, Holly K. Tabor, Joshua D. Smith, Jay Shendure, Deborah A. Nickerson, Michael J. Bamshad - The American Journal of Human Genetics 2014 被引用: 218

  4. A dyadic approach to the delineation of diagnostic entities in clinical genomics

    著者: Leslie G. Biesecker, Margaret P Adam, Fowzan S. Alkuraya, Anne Amemiya, Michael J. Bamshad, Anita E. Beck, James T. Bennett, Lynne M. Bird, John C. Carey, Brian Hon‐Yin Chung, Robin D. Clark, Timothy C. Cox, Cynthia J. Curry, Mary Beth Dinulos, William B. Dobyns, Philip F. Giampietro, Katta M. Girisha, Ian A. Glass, John M. Graham, Karen W. Gripp, Chad Haldeman‐Englert, Bryan D. Hall, A. Micheil Innes, Jennifer M. Kalish, Kim M. Keppler‐Noreuil, Kenjiro Kosaki, Beth A. Kozel, Ghayda Mirzaa, John J. Mulvihill, Małgorzata J.M. Nowaczyk, Roberta A Pagon, Kyle Retterer, Alan F. Rope, Pedro A. Sanchez‐Lara, Laurie H. Seaver, Joseph T.C. Shieh, Anne Slavotinek, Andrew K. Sobering, Cathy A. Stevens, David A. Stevenson, Tiong Yang Tan, Wen‐Hann Tan, Anne Chun‐Hui Tsai, David D. Weaver, Marc S. Williams, Elaine H. Zackai, Yuri A. Zárate - The American Journal of Human Genetics 2021 被引用: 116

  5. Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons

    著者: Scott C. Bell, Justine Rousseau, Huashan Peng, Zahia Aouabed, Pierre Priam, Jean-Francois Theroux, Malvin Jefri, Arnaud Tanti, Hanrong Wu, Ilaria Kolobova, Heika Silviera, Karla Manzano-Vargas, Sophie Ehresmann, Fadi F. Hamdan, Nuwan C. Hettige, Xin Zhang, Lilit Antonyan, Christina Nassif, Lina Ghaloul‐Gonzalez, Jessica Sebastian, Jerry Vockley, Amber G. Begtrup, Ingrid M. Wentzensen, Amy Crunk, Robert D. Nicholls, Kristin Herman, Joshua L. Deignan, Walla Al‐Hertani, Stéphanie Efthymiou, Vincenzo Salpietro, Noriko Miyake, Yoshio Makita, Naomichi Matsumoto, Rune Østern, Gunnar Houge, Maria Hafström, Emily Fassi, Henry Houlden, Jolien S. Klein Wassink‐Ruiter, Dominic Nelson, Amy Goldstein, Tabib Dabir, Julien Van‐Gils, Thomas Bourgeron, Richard Delorme, Gregory M. Cooper, José E. Martínez, Candice R. Finnila, Lionel Carmant, Anne Lortie, Renske Oegema, Koen L.I. van Gassen, Sarju Mehta, Dagmar Huhle, Rami Abou Jamra, Sonja Martin, Han G. Brunner, Dick Lindhout, Margaret Au, John M. Graham, Christine Coubes, Gustavo Turecki, Simon Gravel, Naguib Mechawar, Elsa Rossignol, Jacques L. Michaud, Julie Lessard, Carl Ernst, Philippe M. Campeau - The American Journal of Human Genetics 2019 被引用: 90

  6. Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology

    著者: Andrew K. Sobering, Laura Bryant, Dong Li, Julie McGaughran, Isabelle Maystadt, Stéphanie Moortgat, John M. Graham, Arie van Haeringen, Claudia Ruivenkamp, Roos Cuperus, Julie Vogt, Jenny Morton, Charlotte Brasch‐Andersen, Maria Steenhof, Lars Kjærsgaard Hansen, Élodie Adler, Stanislas Lyonnet, Véronique Pingault, Sandrine Marlin, Alban Ziegler, Tyhiesia Donald, Beverly Nelson, Brandon Alexander Holt, Oleksandra Petryna, Helen V. Firth, Kirsty McWalter, Jacob Zyskind, Aida Telegrafi, Jane Juusola, Richard Person, Michael J. Bamshad, Dawn Earl, Anne Chun‐Hui Tsai, Katherine R. Yearwood, Elysa Marco, C. Nowak, Jessica Douglas, Håkon Håkonarson, Elizabeth Bhoj - Human Genetics and Genomics Advances 2022 被引用: 26

  7. Clinical delineation and natural history of the PIK3CA‐related overgrowth spectrum

    著者: Kim M. Keppler‐Noreuil, Julie C. Sapp, Marjorie J. Lindhurst, Victoria E R Parker, Cathy Blumhorst, Thomas N. Darling, Laura L. Tosi, Susan Huson, Richard W. Whitehousé, Eveliina Jakkula, I. P. Grant, Meena Balasubramanian, Kate Chandler, Jamie L. Fraser, Zoran Gucev, Yanick J. Crow, Leslie Manace Brennan, Robin D. Clark, Elizabeth A. Sellars, Loren Peña, Vidya Krishnamurty, Andrew Y. Shuen, Nancy Braverman, Michael L. Cunningham, V. Reid Sutton, Velibor Tasić, John M. Graham, Joseph S. Geer, Alex Henderson, Robert K. Semple, Leslie G. Biesecker - American Journal of Medical Genetics Part A 2014 被引用: 312

  8. Loss-of-Function Mutations in RAB18 Cause Warburg Micro Syndrome

    著者: Danai Bem, Shin‐ichiro Yoshimura, Ricardo Bastos, F. F. Bond, Manju A. Kurian, Fatima Rahman, Mark T. Handley, Yavor Hadzhiev, Imran Masood, Ania Straatman‐Iwanowska, Andrew R. Cullinane, Alisdair McNeill, Shanaz Pasha, Gail Kirby, Katharine Foster, Zubair Ahmed, Jenny E.V. Morton, Denise Williams, John M. Graham, William B. Dobyns, Lydie Bürglen, John R. Ainsworth, Paul Gissen, Ferenc Müller, Eamonn R. Maher, Francis A. Barr, Irene A. Aligianis - The American Journal of Human Genetics 2011 被引用: 175

  9. Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly

    著者: Diana Alcantara, Andrew E. Timms, Karen W. Gripp, Laura Baker, Kaylee Park, Sarah Collins, Chi Vicky Cheng, Fiona Stewart, Sarju Mehta, Anand Saggar, László Sztriha, Melinda Zombor, Oana Caluseriu, Ronit Mesterman, Margot I. Van Allen, Adeline Jacquinet, Sofia Ygberg, Jonathan A. Bernstein, Aaron M. Wenger, Harendra Guturu, Gill Bejerano, Natalia Gomez‐Ospina, Anna Lehman, Enrico Alfei, Chiara Pantaleoni, Valerio Conti, Renzo Guerrini, Ute Moog, John M. Graham, Robert F. Hevner, William B. Dobyns, Mark O’Driscoll, Ghayda Mirzaa - Brain 2017 被引用: 113

  10. Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association

    著者: Roberta A Pagon, John M. Graham, Jonathan Zonana, Siu‐Li Yong - The Journal of Pediatrics 1981 被引用: 838

  11. Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients

    著者: Gijs W.E. Santen, Emmelien Aten, Anneke T. Vulto‐van Silfhout, Caroline Pottinger, Bregje W.M. van Bon, Ivonne J.H.M. van Minderhout, Ronelle Snowdowne, Christian A.C. van der Lans, Merel W. Boogaard, Margot M. Linssen, Linda Vijfhuizen, Michiel J.R. van der Wielen, M.J. Ellen Vollebregt, Martijn H. Breuning, Marjolein Kriek, Arie van Haeringen, Johan T. den Dunnen, Alexander Hoischen, Jill Clayton‐Smith, Bert B.A. de Vries, Raoul C. M. Hennekam, Martine J. van Belzen, Mariam Al‐Mureikhi, Anwar Baban, Mafalda Barbosa, Tawfeg Ben‐Omran, Katherine Berry, Stefania Bigoni, Odile Boute, Louise Brueton, Ineke van der Burgt, Natalie Canham, Kate Chandler, Krystyńa Chrzańowska, Amanda Collins, Teresa De Toni, John Dean, Nicolette S. den Hollander, Leigh Anne Flore, Alan Fryer, Alice Gardham, John M. Graham, Victoria Harrison, Denise Horn, Marjolijn C.J. Jongmans, Dragana Josifova, Sarina G. Kant, Seema Kapoor, Helen Kingston, Usha Kini, Tjitske Kleefstra, Małgorzata Krajewska‐Walasek, Nancy Kramer, Saskia M. Maas, Patrı́cia Maciel, Grazia M.S. Mancini, Isabelle Maystadt, Shane McKee, Jeff M. Milunsky, Sheela Nampoothiri, Ruth Newbury‐Ecob, Sarah M. Nikkel, Michael Parker, Luis A. Pérez‐Jurado, Stephen P. Robertson, Caroline Rooryck, Debbie Shears, Margherita Silengo, Ankur Singh, Robert Śmigiel, Gabriela Soares, Miranda Splitt, Helen Stewart, Elizabeth Sweeney, May Tassabehji, Beyhan Tüysüz, Albertien M. van Eerde, Catherine Vincent‐Delorme, Louise C. Wilson, Gözde Yeşil - Human Mutation 2013 被引用: 220

  12. IRF2BPL Is Associated with Neurological Phenotypes

    著者: Paul C. Marcogliese, Vandana Shashi, Rebecca C. Spillmann, Nicholas Stong, Jill A. Rosenfeld, Mary Kay Koenig, Julián A. Martínez-Agosto, Matthew Herzog, Agnes H. Chen, Patricia Dickson, Henry J. Lin, Moin Vera, Noriko Salamon, John M. Graham, Damara Ortiz, Elena Infante, Wouter Steyaert, Bart Dermaut, Bruce Poppe, Hyung-Lok Chung, Zhongyuan Zuo, Pei-Tseng Lee, Oguz Kanca, Fan Xia, Yaping Yang, Edward C. Smith, Joan Jasien, Sujay Kansagra, Gail A. Spiridigliozzi, Mays El-Dairi, Robert K. Lark, Kacie Riley, Dwight D. Koeberl, Katie Golden‐Grant, Shinya Yamamoto, Michael F. Wangler, Ghayda Mirzaa, Dimitri Hemelsoet, Brendan Lee, Stanley F. Nelson, David B. Goldstein, Hugo J. Bellen, Loren D.M. Peña, Steven Callens, Paul Coucke, Bart Dermaut, Dimitri Hemelsoet, Bruce Poppe, Wouter Steyaert, Wim Terryn, Rudy Van Coster, David R. Adams, Mercedes E. Alejandro, Patrick Allard, Mahshid S. Azamian, Carlos A. Bacino, Ashok Balasubramanyam, Hayk Barseghyan, Gabriel F. Batzli, Alan H. Beggs, Babak Behnam, Anna Bican, David Bick, Camille L. Birch, Devon Bonner, Braden Boone, Bret L. Bostwick, Lauren C. Briere, Donna M. Brown, Matthew Brush, Elizabeth A. Burke, Lindsay C. Burrage, Shan Chen, Gary Clark, Terra R. Coakley, Joy D. Cogan, Cynthia M. Cooper, Heidi Cope, William J. Craigen, Precilla D’Souza, Mariska Davids, Jyoti G. Dayal, Esteban C. Dell’Angelica, Shweta U. Dhar, Ani Dillon, Katrina M. Dipple, Laurel A. Donnell‐Fink, Naghmeh Dorrani, Daniel C. Dorset, Emilie D. Douine, David D. Draper, David J. Eckstein, Lisa Emrick, Christine M. Eng, Ascia Eskin, Cecilia Esteves, Tyra Estwick, Carlos R. Ferreira, Brent L. Fogel, Noah D. Friedman ほか 118 名 - The American Journal of Human Genetics 2018 被引用: 115

  13. SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome

    著者: Natalie D. Shaw, Harrison Brand, Zachary A Kupchinsky, Hemant Bengani, Lacey Plummer, Takako I. Jones, Serkan Erdin, Kathleen A. Williamson, Joe Rainger, Alexei Stortchevoi, Kaitlin E. Samocha, Benjamin Currall, Donncha S. Dunican, Ryan L. Collins, Jason R. Willer, Angela Lek, Monkol Lek, Malik Nassan, Shahrin Pereira, Tammy Kammin, Diane Lucente, Alexandra Silva, Catarina M. Seabra, Colby Chiang, Yu An, Morad Ansari, Jacqueline K. Rainger, Shelagh Joss, Jill Smith, Margaret Lippincott, Sylvia Singh, Nirav Patel, Jenny W Jing, Jennifer Law, Nalton Ferraro, Alain Verloès, Anita Rauch, Katharina Steindl, Markus Zweier, Ianina Scheer, Daisuke Sato, Nobuhiko Okamoto, Christina M. Jacobsen, Jeanie B. Tryggestad, Steven D. Chernausek, Lisa A. Schimmenti, Benjamin Brasseur, Claudia Cesaretti, José Elías García‐Ortíz, Tatiana Pineda Buitrago, Orlando Pérez Silva, Jodi D. Hoffman, W. Mühlbauer, Klaus W. Ruprecht, Bart Loeys, Masato Shino, Angela M. Kaindl, Chie Hee Cho, Cynthia C. Morton, Richard R. Meehan, Veronica van Heyningen, Eric C. Liao, Ravikumar Balasubramanian, Janet E. Hall, Stephanie B. Seminara, Daniel G. MacArthur, Steven A. Moore, Koh-ichiro Yoshiura, James F. Gusella, Joseph A. Marsh, John M. Graham, Angela E. Lin, Nicholas Katsanis, Peter L. Jones, William F. Crowley, Erica E. Davis, David Fitzpatrick, Michael E. Talkowski - Nature Genetics 2017 被引用: 162

  14. Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia

    著者: Manuela Wiessner, Reza Maroofian, Meng-Yuan Ni, Andrea Pedroni, Juliane Müller, Rolf Stucka, Christian Beetz, Stéphanie Efthymiou, Filippo M. Santorelli, Ahmed Alfares, Changlian Zhu, Anna Uhrová Mészárosová, Elham Alehabib, Somayeh Bakhtiari, Andreas Janecke, María Gabriela Otero, Jin Yun Helen Chen, James T. Peterson, Tim M. Strom, Peter De Jonghe, Tine Deconinck, Willem De Ridder, Jonathan De Winter, Rossella Pasquariello, Ivana Ricca, Majid Alfadhel, Bart P.C. van de Warrenburg, R Portier, Carsten Bergmann, Saghar Ghasemi Firouzabadi, Sheng Chih Jin, Kaya Bilgüvar, Sherifa A. Hamed, Mohammed Abdelhameed, Nourelhoda A. Haridy, Shazia Maqbool, Fatima Rahman, Najwa Anwar, Jenny Carmichael, Alistair T. Pagnamenta, Nick W Wood, Frédéric Tran Mau‐Them, Tobias B. Haack, Maja Di Rocco, Isabella Ceccherini, Michele Iacomino, Federico Zara, Vincenzo Salpietro, Marcello Scala, Marta Rusmini, Yiran Xu, Yinghong Wang, Yasuhiro Suzuki, Kishin Koh, Haitian Nan, Hiroyuki Ishiura, Shoji Tsuji, Laëtitia Lambert, Emmanuelle Schmitt, Elodie Lacaze, Hanna Küpper, David Dredge, Cara Skraban, Amy Goldstein, Mary Willis, Katheryn Grand, John M. Graham, Richard A. Lewis, Francisca Millan, Özgür Duman, Nihal Olgaç Dündar, Gökhan Uyanık, Lüdger Schöls, Peter Nürnberg, Gudrun Nürnberg, Andrea Català-Bordes, Pavel Seeman, Martin Kuchař, Hossein Darvish, Adriana Rebelo, Filipa Bouçanova, Jean‐Jacques Médard, Roman Chrast, Michaela Auer‐Grumbach, Fowzan S. Alkuraya, Hanan E. Shamseldin, Saeed Al Tala, Jamileh Rezazadeh Varaghchi, Maryam Najafi, Selina Deschner, Dieter Gläser, Wolfgang Hüttel, Michael C. Kruer, Erik-Jan Kamsteeg, Yoshihisa Takiyama, Stephan Züchner, Jonathan Baets, Matthis Synofzik, Rebecca Schüle, Rita Horváth ほか 6 名 - Brain 2021 被引用: 51

  15. An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome

    著者: Sanaa Choufani, Vanda McNiven, Cheryl Cytrynbaum, Maryam Jangjoo, Margaret P Adam, Hans T. Björnsson, Jacqueline Harris, David A. Dyment, Gail E. Graham, Marjan M. Nezarati, Ritu B. Aul, Claudia Castiglioni, Jeroen Breckpot, Koenraad Devriendt, Helen Stewart, Benito Baños-Piñero, 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 Álvarez, 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 E. Roberts, Odelia Chorin, Gilad D. Evrony, Minna Kraatari‐Tiri, Tracy Dudding‐Byth, Anamaria Richardson, David Hunt, Laura S. Hamilton, Sarah Dyack, Bryce A. Mendelsohn, Nicolás Rodríguez, Rosario Sánchez‐Martínez, Jair Tenorio, Julián Nevado, Pablo Lapunzina, Pilar Tirado, Maria-Teresa Carminho Amaro Rodrigues, Lina Quteineh, A. Micheil Innes, Antonie D. Kline, Ping Yee Billie Au, Rosanna Weksberg - The American Journal of Human Genetics 2022 被引用: 36

  16. Megalencephaly‐capillary malformation (MCAP) and megalencephaly‐polydactyly‐polymicrogyria‐hydrocephalus (MPPH) syndromes: Two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis

    著者: Ghayda Mirzaa, Robert L. Conway, Karen W. Gripp, Tally Lerman‐Sagie, Dawn H. Siegel, Linda S. deVries, Dorit Lev, Nancy Kramer, Elizabeth Hopkins, John M. Graham, William B. Dobyns - American Journal of Medical Genetics Part A 2012 被引用: 238

  17. Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome

    著者: Irene A. Aligianis, Colin A. Johnson, Paul Gissen, Dongrong Chen, Daniel J. Hampshire, Katrin Hoffmann, Esther N. Maina, Neil V. Morgan, Louise Tee, Jenny Morton, John R. Ainsworth, Denise Horn, Elisabeth Rosser, Trevor Cole, Irene Stolte‐Dijkstra, Karen Fieggen, Jill Clayton‐Smith, André Mégarbané, Julian Hamilton‐Shield, Ruth Newbury‐Ecob, William B. Dobyns, John M. Graham, Klaus Kjaer, Mette Warburg, Jacqueline Bond, Richard C. Trembath, Laura W. Harris, Yoshimi Takai, Stefan Mundlos, David Tannahill, Crislyn Woods, Eamonn R. Maher - Nature Genetics 2005 被引用: 226

  18. Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia

    著者: Yasmin Namavar, P. G. Barth, Paul R. Kasher, Fred van Ruissen, Knut Brockmann, Günther Bernert, Karin Writzl, Karen Ventura, Edith Y. Cheng, Donna M. Ferriero, Lina Basel‐Vanagaite, Veerle Rc Eggens, Ingeborg Krägeloh‐Mann, Linda De Meırleır, Mary D. King, John M. Graham, Arpad von Moers, N. A. V. M. Knoers, László Sztriha, Rudolf Korinthenberg, William B. Dobyns, Frank Baas, Bwee Tien Poll‐The - Brain 2010 被引用: 223

  19. Teratogen update: Gestational effects of maternal hyperthermia due to febrile illnesses and resultant patterns of defects in humans

    著者: John M. Graham, Matthew Edwards, Marshall J. Edwards - Teratology 1998 被引用: 221

  20. Cross-Modal Plasticity Underpins Language Recovery after Cochlear Implantation

    著者: Anne‐Lise Giraud, Cathy J. Price, John M. Graham, Éric Truy, R. S. J. Frackowiak - Neuron 2001 被引用: 219

  21. GRIN1 mutation associated with intellectual disability alters NMDA receptor trafficking and function

    著者: Wenjuan Chen, Christine Shieh, Sharon A. Swanger, Anel Tankovic, Margaret Au, Marianne McGuire, Michele Tagliati, John M. Graham, Suneeta Madan‐Khetarpal, Stephen F. Traynelis, Hongjie Yuan, Tyler Mark Pierson - Journal of Human Genetics 2017 被引用: 93

  22. Update on the gestational effects of maternal hyperthermia

    著者: John M. Graham - Birth Defects Research 2020 被引用: 78

  23. A standard of care for individuals with PIK3CA ‐related disorders: An international expert consensus statement

    著者: Sofia Douzgou, Myfanwy Rawson, Eulàlia Baselga, Moise Danielpour, Laurence Faivre, Alon Kashanian, Kim M. Keppler‐Noreuil, Paul Kuentz, Grazia M.S. Mancini, Marie‐Cécile Manière, Víctor Martínez‐Glez, Victoria Parker, Robert K. Semple, Siddharth Srivastava, P. Vabres, Marie‐Claire Y. de Wit, John M. Graham, Jill Clayton‐Smith, Ghayda Mirzaa, Leslie G. Biesecker - Clinical Genetics 2021 被引用: 55

  24. Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype–phenotype correlations and common mechanisms

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