Roger E Stevenson

ORCID

Publication Activity (10 Years)

Years Active: 2018-2024
Publications (10 Years): 25

Top Venues

American journal of medical genetics. Part A

European journal of human genetics : EJHG

Science (New York, N.Y.)

NPJ genomic medicine

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

Publications

Keng Ioi Vong, Sangmoon Lee, Kit Sing Au, Terrence Blaine Crowley, Valeria Capra, Jeremiah Martino, Meade Haller, Camila Araújo, Hélio R Machado, Renee George, Bryn Gerding, Kiely N James, Valentina Stanley, Nan Jiang, Kameron Alu, Naomi Meave, Anna S Nidhiry, Fiza Jiwani, Isaac Tang, Ashna Nisal, Ishani Jhamb, Arzoo Patel, Aakash Patel, Jennifer McEvoy-Venneri, Chelsea Barrows, Celina Shen, Yoo-Jin Ha, Robyn Howarth, Madison Strain, Allison Elizabeth Ashley-Koch, Matloob Azam, Sara Mumtaz, Gyang Markus Bot, Richard H Finnell, Zoha Kibar, Ahmed I Marwan, Gia Melikishvili, Hal S Meltzer, Osvaldo M Mutchinick, David A Stevenson, Henry J Mroczkowski, Betsy Ostrander, Erica Schindewolf, Julie Moldenhauer, Elaine H Zackai, Beverly S Emanuel, Sixto García-Miñaúr, Sebastian Kwiatkowski, Roger E Stevenson, Maha Saad Zaki, Hope Northrup, Hanna K McNamara, Kimberly A Aldinger, Ian G Phelps, Mei Deng, Ian A Glass, null null, Bernice E Morrow, Donna M McDonald-McGinn, Simone Sanna-Cherchi, Dolores J Lamb, Joseph G Gleeson
Risk of meningomyelocele mediated by the common 22q11.2 deletion. Science (New York, N.Y.) 384 (6695) (2024)
Keng Ioi Vong, Sangmoon Lee, Kit Sing Au, Terrence Blaine Crowley, Valeria Capra, Jeremiah Martino, Meade Haller, Camila Araújo, Hélio R Machado, Renee George, Bryn Gerding, Kiely N James, Valentina Stanley, Nan Jiang, Kameron Alu, Naomi Meave, Anna S Nidhiry, Fiza Jiwani, Isaac Tang, Ashna Nisal, Ishani Jhamb, Arzoo Patel, Aakash Patel, Jennifer McEvoy-Venneri, Chelsea Barrows, Celina Shen, Yoo-Jin Ha, Robyn Howarth, Madison Strain, Allison Elizabeth Ashley-Koch, Matloob Azam, Sara Mumtaz, Gyang Markus Bot, Richard H Finnell, Zoha Kibar, Ahmed I Marwan, Gia Melikishvili, Hal S Meltzer, Osvaldo M Mutchinick, David A Stevenson, Henry J Mroczkowski, Betsy Ostrander, Erica Schindewolf, Julie Moldenhauer, Elaine H Zackai, Beverly S Emanuel, Sixto García-Miñaúr, Sebastian Kwiatkowski, Roger E Stevenson, Maha Saad Zaki, Hope Northrup, Hanna K McNamara, Kimberly A Aldinger, Ian G Phelps, Mei Deng, Ian A Glass, null null, Bernice E Morrow, Donna M McDonald-McGinn, Simone Sanna-Cherchi, Dolores J Lamb, Joseph G Gleeson, Allison Elizabeth Ashley Koch, Hal S Meltzer, Joan Le, Kit Sing Au, Hope Northrup, Gyang Markus Bot, Valeria Capra, Richard H Finnell, Zoha Kibar, Philip J Lupo, Helio R Machado, Camila Araújo, Tony Magana, Ahmed I Marwan, Gia Melikishvili, Osvaldo M Mutchinick, Roger E Stevenson, Anna Yurrita, Maha S Zaki, Sara Mumtaz, José Ramón Medina-Bereciartu, Caroline M Kolvenbach, Shirlee Shril, Friedhelm Hildebrandt, Mahmoud M Noureldeen, Aida Ms Salem, Yukitoshi Takahashi, Hormos Salimi-Dafsari, H Westley Phillips, Brian Hanak, Bülent Kara, Ayfer Sakarya Güneş, David D Gonda, Salman Kirmani, Tinatin Tkemaladze, Joseph G Gleeson
Risk of meningomyelocele mediated by the common 22q11.2 deletion. Science (New York, N.Y.) 384 (6695) (2024)
Keng Ioi Vong, Sangmoon Lee, Kit Sing Au, Terrence Blaine Crowley, Valeria Capra, Jeremiah Martino, Meade Haller, Camila Araújo, Hélio R Machado, Renee George, Bryn Gerding, Kiely N James, Valentina Stanley, Nan Jiang, Kameron Alu, Naomi Meave, Anna S Nidhiry, Fiza Jiwani, Isaac Tang, Ashna Nisal, Ishani Jhamb, Arzoo Patel, Aakash Patel, Jennifer McEvoy-Venneri, Chelsea Barrows, Celina Shen, Yoo-Jin Ha, Robyn Howarth, Madison Strain, Allison Elizabeth Ashley-Koch, Matloob Azam, Sara Mumtaz, Gyang Markus Bot, Richard H Finnell, Zoha Kibar, Ahmed I Marwan, Gia Melikishvili, Hal S Meltzer, Osvaldo M Mutchinick, David A Stevenson, Henry J Mroczkowski, Betsy Ostrander, Erica Schindewolf, Julie Moldenhauer, Elaine H Zackai, Beverly S Emanuel, Sixto García-Miñaúr, Sebastian Kwiatkowski, Roger E Stevenson, Maha Saad Zaki, Hope Northrup, Hanna K McNamara, Kimberly A Aldinger, Ian G Phelps, Mei Deng, Ian A Glass, null null, Bernice E Morrow, Donna M McDonald-McGinn, Simone Sanna-Cherchi, Dolores J Lamb, Joseph G Gleeson
Risk of meningomyelocele mediated by the common 22q11.2 deletion. Science (New York, N.Y.) 384 (6695) (2024)
Jiyong Wang, Aidin Foroutan, Ellen Richardson, Steven A Skinner, Jack Reilly, Jennifer Kerkhof, Cynthia J Curry, Patrick S Tarpey, Stephen P Robertson, Isabelle Maystadt, Boris Keren, Joanne W Dixon, Cindy Skinner, Rachel Stapleton, Lyse Ruaud, Evren Gumus, Phillis Lakeman, Mariëlle Alders, Matthew L Tedder, Charles E Schwartz, Michael J Friez, Bekim Sadikovic, Roger E Stevenson
Correction: Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711. European journal of human genetics : EJHG (2023)
Sadegheh Haghshenas, Aidin Foroutan, Pratibha Bhai, Michael A Levy, Raissa Relator, Jennifer Kerkhof, Haley McConkey, Cindy D Skinner, Raymond C Caylor, Matthew L Tedder, Roger E Stevenson, Bekim Sadikovic, Charles E Schwartz
Identification of a DNA methylation signature for renpenning syndrome (RENS1), a spliceopathy. European journal of human genetics : EJHG (2023)
Sadegheh Haghshenas, Aidin Foroutan, Pratibha Bhai, Michael A Levy, Raissa Relator, Jennifer Kerkhof, Haley McConkey, Cindy D Skinner, Raymond C Caylor, Matthew L Tedder, Roger E Stevenson, Bekim Sadikovic, Charles E Schwartz
Identification of a DNA methylation signature for Renpenning syndrome (RENS1), a spliceopathy. European journal of human genetics : EJHG (2023)
Jiyong Wang, Aidin Foroutan, Ellen Richardson, Steven A Skinner, Jack Reilly, Jennifer Kerkhof, Cynthia J Curry, Patrick S Tarpey, Stephen P Robertson, Isabelle Maystadt, Boris Keren, Joanne W Dixon, Cindy Skinner, Rachel Stapleton, Lyse Ruaud, Evren Gumus, Phillis Lakeman, Mariëlle Alders, Matthew L Tedder, Charles E Schwartz, Michael J Friez, Bekim Sadikovic, Roger E Stevenson
Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711. European journal of human genetics : EJHG 30 (4) (2022)
Stacey R McGee, Shivakumar Rajamanickam, Sandeep Adhikari, Oluwatosin C Falayi, Theresa A Wilson, Brian J Shayota, Jessica A Cooley Coleman, Cindy Skinner, Raymond C Caylor, Roger E Stevenson, Caio Robledo D' Angioli Costa Quaio, Berenice Cunha Wilke, Jennifer M Bain, Kwame Anyane-Yeboa, Kaitlyn Brown, John M Greally, Emilia K Bijlsma, Claudia A L Ruivenkamp, Keren Politi, Lydia A Arbogast, Michael W Collard, Jodi I Huggenvik, Sarah H Elsea, Philip J Jensik
Expansion and mechanistic insights of de novo DEAF1 variants in DEAF1-associated neurodevelopmental disorders. Human molecular genetics (2022)
Kameryn M Butler, Timothy Fee, Barbara R DuPont, Jane H Dean, Roger E Stevenson, Michael J Lyons
A SOX3 duplication and lumbosacral spina bifida in three generations. American journal of medical genetics. Part A 188 (5) (2022)
Roger E Stevenson
Common pathogenesis for sirenomelia, OEIS complex, limb-body wall defect, and other malformations of caudal structures. American journal of medical genetics. Part A 185 (5) (2021)
Michael A Levy, David B Beck, Kay Metcalfe, Sofia Douzgou Houge, Sivagamy Sithambaram, Trudie Cottrell, Muhammad Ansar, Jennifer Kerkhof, Cyril Mignot, Marie-Christine Nougues, Boris Keren, Hannah W Moore, Renske Oegema, Jacques C Giltay, Marleen Simon, Richard H van Jaarsveld, Jessica Bos, Mieke van Haelst, M Mahdi Motazacker, Elles M J Boon, Gijs W E Santen, Claudia A L Ruivenkamp, Marielle Alders, Teresa Romeo Luperchio, Leandros Boukas, Keri Ramsey, Vinodh Narayanan, G Bradley Schaefer, Roberto Bonasio, Kimberly F Doheny, Roger E Stevenson, Siddharth Banka, Bekim Sadikovic, Jill A Fahrner
Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood. NPJ genomic medicine 6 (1) (2021)
Michael A Levy, David B Beck, Kay Metcalfe, Sofia Douzgou Houge, Sivagamy Sithambaram, Trudie Cottrell, Muhammad Ansar, Jennifer Kerkhof, Cyril Mignot, Marie-Christine Nougues, Boris Keren, Hannah W Moore, Renske Oegema, Jacques C Giltay, Marleen Simon, Richard H van Jaarsveld, Jessica Bos, Mieke van Haelst, M Mahdi Motazacker, Elles M J Boon, Gijs W E Santen, Claudia A L Ruivenkamp, Marielle Alders, Teresa Romeo Luperchio, Leandros Boukas, Keri Ramsey, Vinodh Narayanan, G Bradley Schaefer, Roberto Bonasio, Kimberly F Doheny, Roger E Stevenson, Siddharth Banka, Bekim Sadikovic, Jill A Fahrner
Author Correction: Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood. NPJ genomic medicine 6 (1) (2021)
Cindy Skinner, Rini Pauly, Steven A Skinner, Richard J Schroer, Richard J Simensen, Harold A Taylor, Michael J Friez, Barbara R DuPont, Roger E Stevenson
Autistic Disorder: A 20 Year Chronicle. Journal of autism and developmental disorders 51 (2) (2021)
Charles E Schwartz, Roger E Stevenson
In search of the earliest images of symmelia in works of art. American journal of medical genetics. Part C, Seminars in medical genetics 187 (2) (2021)
Raymond J Louie, Debra L Collins, Michael J Friez, Cindy Skinner, Charles E Schwartz, Roger E Stevenson
Schimke XLID syndrome results from a deletion in BCAP31. American journal of medical genetics. Part A 182 (9) (2020)
Bryan D Hall, Roger E Stevenson, Julie R Jones
Fatal hyperkeratosis syndrome in four siblings due to dolichol kinase deficiency. American journal of medical genetics. Part A 182 (6) (2020)
Jennifer M Gass, Barbara B Head, Sally M Shields, Roger E Stevenson, Raymond J Louie
Hydrocephaly associated with compound heterozygous alterations in TRAPPC12. Birth defects research 112 (13) (2020)
Yu-Ri Lee, Kamal Khan, Kim Armfield-Uhas, Sujata Srikanth, Nicola A Thompson, Mercedes Calvo Pardo, Lu Yu, Joy W Norris, Yunhui Peng, Karen W Gripp, Kirk A Aleck, Chumei Li, Ed Spence, Tae-Ik Choi, Soo Jeong Kwon, Hee-Moon Park, Daseuli Yu, Seokhwi Kim, Marie R Mooney, Shahid M Baig, Ingrid M Wentzensen, Aida Telegrafi, Kirsty McWalter, Trevor A Moreland, Chelsea Roadhouse, Keri Ramsey, Michael J Lyons, Cindy Skinner, Emil Alexov, Nicholas Katsanis, Roger E Stevenson, Jyoti Sharma Choudhary, David J Adams, Cheol-Hee Kim, Erica E Davis, Charles E Schwartz
Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy. Nature communications 11 (1) (2020)
Cedrik Tekendo-Ngongang, Babajide Owosela, Nicole Fleischer, Yonit A Addissie, Bryan Malonga, Ebenezer Badoe, Neerja Gupta, Angélica Moresco, Victoria Huckstadt, Engy A Ashaat, Dalia Farouk Hussen, Ho-Ming Luk, Ivan F M Lo, Brian Hon-Yin Chung, Jasmine L F Fung, Danilo Moretti-Ferreira, Letícia Cassimiro Batista, Stephanie Lotz-Esquivel, Manuel Saborio-Rocafort, Ramses Badilla-Porras, Monica Penon-Portmann, Kelly L Jones, Omar A Abdul-Rahman, Annette Uwineza, Eloise J Prijoles, Ifeanyi Kanayo Ifeorah, Arianne Llamos Paneque, Nirmala D Sirisena, Leah Ke'ala'aumoe Dowsett, Sansan Lee, Gerarda Cappuccio, Carolyn Sian Kitchin, Alicia Diaz-Kuan, Meow-Keong Thong, María Gabriela Obregon, Leon Mutesa, Vajira H W Dissanayake, Mona O El Ruby, Nicola Brunetti-Pierri, Ekanem Nsikak Ekure, Roger E Stevenson, Maximilian Muenke, Paul S Kruszka
Rubinstein-Taybi syndrome in diverse populations. American journal of medical genetics. Part A 182 (12) (2020)
Leah Ke'ala'aumoe Dowsett, Antonio R Porras, Paul S Kruszka, Brandon Davis, Tommy Hu, Engela Honey, Eben Badoe, Meow-Keong Thong, Eyby Leon, Katta Mohan Girisha, Anju Shukla, Shalini S Nayak, Vorasuk Shotelersuk, Andre Megarbane, Shubha Rao Phadke, Nirmala D Sirisena, Vajira H W Dissanayake, Carlos R Ferreira, Monisha S Kisling, Pranoot Tanpaiboon, Annette Uwineza, Leon Mutesa, Cedrik Tekendo-Ngongang, Ambroise Wonkam, Karen Fieggen, Leticia Cassimiro Batista, Danilo Moretti-Ferreira, Roger E Stevenson, Eloise J Prijoles, David B Everman, Kate Clarkson, Jessica Worthington, Virginia E Kimonis, Fuki Hisama, Carol Crowe, Paul Wong, Kisha Johnson, Robin D Clark, Lynne Bird, Diane Masser-Frye, Marie McDonald, Patrick Willems, Elizabeth Roeder, Sulgana Saitta, Kwame Anyane-Yeoba, Laurie Demmer, Naoki Hamajima, Zornitza Stark, Greta Gillies, Louanne Hudgins, Usha Dave, Stavit Shalev, Victoria Siu, Ann Ades, Holly Dubbs, Sarah Raible, Maninder Kaur, Emanuela Salzano, Laird Jackson, Matthew Deardorff, Antonie D Kline, Marshall Summar, Maximilian Muenke, Marius George Linguraru, Ian D Krantz
Cornelia de Lange syndrome in diverse populations. American journal of medical genetics. Part A 179 (2) (2019)
Raymond J Louie, Michael J Friez, Cindy Skinner, Michael Baraitser, Robin D Clark, Charles E Schwartz, Roger E Stevenson
Clark-Baraitser syndrome is associated with a nonsense alteration in the autosomal gene TRIP12. American journal of medical genetics. Part A 182 (3) (2019)
Catherine A Ziats, Charles E Schwartz, Jozef Gecz, Marie Shaw, Michael J Field, Roger E Stevenson, Giovanni Neri
X-linked intellectual disability: Phenotypic expression in carrier females. Clinical genetics 97 (3) (2019)
Paul S Kruszka, Antonio R Porras, Deise Helena de Souza, Angélica Moresco, Victoria Huckstadt, Ashleigh D Gill, Alec P Boyle, Tommy Hu, Yonit A Addissie, Gary T K Mok, Cedrik Tekendo-Ngongang, Karen Fieggen, Eloise J Prijoles, Pranoot Tanpaiboon, Engela Honey, Ho-Ming Luk, Ivan F M Lo, Meow-Keong Thong, Premala Muthukumarasamy, Kelly L Jones, Khadija Belhassan, Karim Ouldim, Ihssane El Bouchikhi, Laila Bouguenouch, Anju Shukla, Katta Mohan Girisha, Nirmala D Sirisena, Vajira H W Dissanayake, C Sampath Paththinige, Rupesh Mishra, Monisha S Kisling, Carlos R Ferreira, María Beatriz de Herreros, Ni-Chung Lee, Saumya S Jamuar, Angeline Lai, Ee Shien Tan, Jiin Ying Lim, Cham Breana Wen-Min, Neerja Gupta, Stephanie Lotz-Esquivel, Ramsés Badilla-Porras, Dalia Farouk Hussen, Mona O El Ruby, Engy A Ashaat, Siddaramappa Jagdish Patil, Leah Dowsett, Alison Eaton, A Micheil Innes, Vorasuk Shotelersuk, Ëben Badoe, Ambroise Wonkam, María Gabriela Obregon, Brian H Y Chung, Milana Trubnykova, Jorge La Serna, Bertha Elena Gallardo Jugo, Miguel Chávez Pastor, Hugo Hernán Abarca Barriga, Andre Megarbane, Beth A Kozel, Mieke M van Haelst, Roger E Stevenson, Marshall Summar, A Adebowale Adeyemo, Colleen A Morris, Danilo Moretti-Ferreira, Marius George Linguraru, Maximilian Muenke
Williams-Beuren syndrome in diverse populations. American journal of medical genetics. Part A 176 (5) (2019)
Giovanni Neri, Charles E Schwartz, Herbert A Lubs, Roger E Stevenson
X-linked intellectual disability update 2017. American journal of medical genetics. Part A 176 (6) (2018)
Roger E Stevenson, Victoria Vincent, Catherine J Spellicy, Michael J Friez, Alka Chaubey
Biallelic deletions of the Waardenburg II syndrome gene, SOX10, cause a recognizable arthrogryposis syndrome. American journal of medical genetics. Part A 176 (9) (2018)

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Publication Activity (10 Years)

Top Topics

Top Venues

Roger E Stevenson