Elaine H Zackai (E H Zackai, Elaine Zackai)

Publication Activity (10 Years)

Years Active: 2018-2024
Publications (10 Years): 12

Top Topics

Top Venues

American journal of medical genetics. Part A

Science (New York, N.Y.)

European journal of human genetics : EJHG

NPJ genomic medicine

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

Publications

Charles E Schwartz, Arthur S Aylsworth, Judith Allanson, Agatino Battaglia, John C Carey, Cynthia J Curry, Kay E Davies, Evan E Eichler, John M Graham, Bryan Hall, Judith G Hall, Lewis B Holmes, H Eugene Hoyme, Alasdair Hunter, Jeffrey W Innis, John Johnson, Kim M Keppler-Noreuil, Jules G Leroy, Cynthia Moore, David L Nelson, Giovanni Neri, John M Opitz, David J Picketts, F Lucy Raymond, Stavit Allon Shalev, Roger E Stevenson, Connie T R M Stumpel, Grant Sutherland, David H Viskochil, David D Weaver, Elaine H Zackai
Personal journeys to and in human genetics and dysmorphology. American journal of medical genetics. Part A (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)
Charles E Schwartz, Arthur S Aylsworth, Judith Allanson, Agatino Battaglia, John C Carey, Cynthia J Curry, Kay E Davies, Evan E Eichler, John M Graham, Bryan Hall, Judith G Hall, Lewis B Holmes, H Eugene Hoyme, Alasdair Hunter, Jeffrey W Innis, John Johnson, Kim M Keppler-Noreuil, Jules G Leroy, Cynthia Moore, David L Nelson, Giovanni Neri, John M Opitz, David J Picketts, F Lucy Raymond, Stavit Allon Shalev, Roger E Stevenson, Connie T R M Stumpel, Grant Sutherland, David H Viskochil, David D Weaver, Elaine H Zackai
Personal journeys to and in human genetics and dysmorphology. American journal of medical genetics. Part A 194 (6) (2024)
Charles E Schwartz, Arthur S Aylsworth, Judith Allanson, Agatino Battaglia, John C Carey, Cynthia J Curry, Kay E Davies, Evan E Eichler, John M Graham, Bryan Hall, Judith G Hall, Lewis B Holmes, H Eugene Hoyme, Alasdair Hunter, Jeffrey W Innis, John Johnson, Kim M Keppler-Noreuil, Jules G Leroy, Cynthia Moore, David L Nelson, Giovanni Neri, John M Opitz, David J Picketts, F Lucy Raymond, Stavit Allon Shalev, Roger E Stevenson, Connie T R M Stumpel, Grant Sutherland, David H Viskochil, David D Weaver, Elaine H Zackai
Personal journeys to and in human genetics and dysmorphology. American journal of medical genetics. Part A 194 (6) (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)
Yingjie Zhao, Yujue Wang, Lijie Shi, Donna M McDonald-McGinn, T Blaine Crowley, Daniel E McGinn, Oanh T Tran, Daniella Miller, Jhih-Rong Lin, Elaine H Zackai, H Richard Johnston, Eva W C Chow, Jacob A S Vorstman, Claudia Vingerhoets, Therese van Amelsvoort, Doron Gothelf, Ann Swillen, Jeroen Breckpot, Joris Robert Vermeesch, Stephan Eliez, Maude Schneider, Marianne B M van den Bree, Michael J Owen, Wendy R Kates, Gabriela M Repetto, Vandana Shashi, Kelly Schoch, Carrie E Bearden, M Cristina Digilio, Marta Unolt, Carolina Putotto, Bruno Marino, Maria Pontillo, Marco Armando, Stefano Vicari, Kathleen Angkustsiri, Linda Campbell, Tiffany Busa, Damian Heine-Suñer, Kieran C Murphy, Declan G M Murphy, Sixto García-Miñaúr, Luis Fernández, null null, Zhengdong D Zhang, Elizabeth Goldmuntz, Raquel E Gur, Beverly S Emanuel, Deyou Zheng, Christian R Marshall, Anne Susan Bassett, Tao Wang, Bernice E Morrow
Chromatin regulators in the TBX1 network confer risk for conotruncal heart defects in 22q11.2DS. NPJ genomic medicine 8 (1) (2023)
Mythily Ganapathi, Leticia S Matsuoka, Michael March, Dong Li, Elly Brokamp, Sara Benito-Sanz, Susan M White, Katherine Lachlan, Priyanka Ahimaz, Anshuman Sewda, Lisa Bastarache, Amanda Thomas-Wilson, Joan M Stoler, Nuria C Bramswig, Júlia Baptista, Karen L Stals, Florence Demurger, Benjamin Cogné, Bertrand Isidor, Maria Francesca Bedeschi, Angela Peron, Jeanne Amiel, Elaine H Zackai, John P Schacht, Alejandro D Iglesias, Jenny Morton, Ariane Schmetz, null null, Verónica Seidel, Stephanie Lucia, Stephanie M Baskin, Isabelle Thiffault, Joy D Cogan, Christopher T Gordon, Wendy K Chung, Sarah Bowdin, Elizabeth Joyce Bhoj
Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays. European journal of human genetics : EJHG (2023)
Mandi Liu, Christopher L Smith, David M Biko, Dong Li, Erin Pinto, Nora O'Connor, Cara Skraban, Elaine H Zackai, Hakon Hakonarson, Yoav Dori, Sarah E Sheppard
Genetics etiologies and genotype phenotype correlations in a cohort of individuals with central conducting lymphatic anomaly. European journal of human genetics : EJHG 30 (9) (2022)
Eli J Cornblath, Arun Mahadevan, Xiaosong He, Kosha Ruparel, David M Lydon-Staley, Tyler Maxwell Moore, Ruben C Gur, Elaine H Zackai, Beverly Emanuel, Donna M McDonald-McGinn, Daniel H Wolf, Theodore Daniel Satterthwaite, David R Roalf, Raquel E Gur, Danielle S Bassett
Altered functional brain dynamics in chromosome 22q11.2 deletion syndrome during facial affect processing. Molecular psychiatry (2021)
Marta Unolt, Molka Kammoun, Sebastian Kwiatkowski, Gail E Graham, Terrence Blaine Crowley, Matthew S Hestand, Wolfram Demaerel, Maciej Geremek, Beverly S Emanuel, Elaine H Zackai, Joris R Vermeesch, Donna M McDonald-McGinn
Pathogenic variants in CDC45 on the remaining allele in patients with a chromosome 22q11.2 deletion result in a novel autosomal recessive condition. Genetics in medicine : official journal of the American College of Medical Genetics 22 (2) (2019)
E Verheij, L Elden, Terrence Blaine Crowley, Frank A Pameijer, Elaine H Zackai, Donna M McDonald-McGinn, Henricus G X M Thomeer
Anatomic Malformations of the Middle and Inner Ear in 22q11.2 Deletion Syndrome: Case Series and Literature Review. AJNR. American journal of neuroradiology 39 (5) (2018)