Susan M. Hiatt - Publications, H-index & Citations

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Susan M. Hiatt

ohio state university

28H-index

73Paper Count

3.6KCitation Count

Published Papers 35

Publication Date

Monoallelic and biallelic KDM5A variants identified in patients with autism spectrum disorder

Human Genetics and Genomics Advances

IF3.6

2026-05-23

OAAI

El Hayek, Lauretta; Gogate, Ashlesha; Chen, Wei-Chen; Kaur, Kiran; Zaki, Maha S.; De Wachter, Matthias; Van Schil, Kristof; Dublin-Ryan, Leeran; Zamani, Mina; Bartos, Meghan N.; Hiatt, Susan M.; Courdier, Cecile; Michaud, Vincent; Kenny, Janna; Day, Michael; Pang, Lewis; Nasab, Mahya Ebrahimi; Manshadi, Seyed Ali Madani; Eslahi, Atieh; Rasoul, Masoomeh Ale; Sanchez-Mendoza, Eduardo Humberto; DeLuca, Charles; Marafi, Dana; Stevens, Servi J. C.; Ivanovski, Ivan; Frey, Tanja; Steindl, Katharina; Rauch, Anita; O'Connor, Kaitlyn; Velinov, Milen; Shen, Xiaoming; Janssen, Etienne J. M.; Sedighzadeh, Sahar; Kordi-Tamandani, Dor Mohammad; Khajeh, Ali; Elshafie, Reem M.; Bastaki, Laila; Misra, Vinod K.; Firoozfar, Zahra; Goldenberg, Paula C.; Toosi, Mehran Beiraghi; Mojarrad, Majid; Kavanagh, Karl; Koboldt, Daniel C.; Margot, Henri; Hurst, Anna C. E.; Weber, Axel; Bergmann, Carsten; Houlden, Henry; Maroofian, Reza; Weis, Denisa; Ceulemans, Berten; Chahrour, Maria H.

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Heterozygous CECR2 Variants Support a Distinct Neurodevelopmental Syndrome with Features Overlapping Cat Eye Syndrome

Human Genetics and Genomics Advances

IF3.6

2026-04-09

OAAI

Anushree Acharya; Irma Järvelä; Andrea Hernandez; Yasmin Rajendran; Thashi Bharadwaj; Dana H. Goodloe; Susan M. Hiatt; Jennifer Morrison; Patricia G. Wheeler; Jesse M. Hunter; Rachel Supinger; Scott E. Hickey; Andrea K. Petersen; Kari Magnussen; Marcello Scala; Pasquale Striano; Federico Zara; Juha Leppälä; Suzanne M. Leal; Isabelle Schrauwen

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A clinical and genotype-phenotype analysis of MACF1 variants

The American Journal of Human Genetics

IF0

2025-09-08

PREAI

Jordy Dekker; Rachel Schot; Kimberly A. Aldinger; David B. Everman; Camerun Washington; Julie R. Jones; Jennifer A. Sullivan; Rebecca C. Spillmann; Vandana Shashi; Antonio Vitobello; Anne-Sophie Denommé-Pichon; Anne-Laure Mosca-Boidron; Laurence Perrin; Stéphane Auvin; Maha S. Zaki; Joseph G. Gleeson; Naomi Meave; Cassidy Wallace; Sophie Nambot; Julian Delanne; Sarah M. Ruggiero; Ingo Helbig; Mark P. Fitzgerald; Richard J. Leventer; Dorothy K. Grange; Emanuela Argilli; Elliott H. Sherr; Supraja Prakash; Derek E. Neilson; Francesco Nicita; Antonella Sferra; Enrico S. Bertini; Chiara Aiello; Knut Brockmann; Alexander B. Kuranov; Silke Kaulfuss; Sulman Basit; Majed Alluqmani; Ahmad Almatrafi; Jan M. Friedman; Colleen Guimond; Faruq Mohammed; Pooja Sharma; Divya Goel; Thomas Wirth; Mathieu Anheim; Paulina Bahena; Asuman Koparir; Konstantinos Kolokotronis; Barbara Vona; Thomas Haaf; Erdmute Kunstmann; Reza Maroofian; Henrike L. Sczakiel; Felix Boschann; Mala Misra-Isrie; Raymond J. Louie; Elliot S. Stolerman; Pedro A. Sanchez-Lara; Sandra Mergler; Renske Oegema; Yuri A. Zarate; Ariana Kariminejad; Homa Tajsharghi; Shimriet Zeidler; Anneke J.A. Kievit; Arjan Bouman; Gerarda Cappuccio; Nicola Brunetti-Pierri; Kyra E. Stuurman; Dayna Morel Swols; Mustafa Tekin; Jariya Upadia; Donna M. Martin; Daniel Craven; Susan M. Hiatt; Laura A. van de Pol; Felice D'Arco; Henri Margot; Martina Wilke; Soheil Yousefi; Tahsin Stefan Barakat; Monique M. van Veghel-Plandsoen; Eleonora Aronica; Jasper Anink; Stephen L. Rogers; Kevin C. Slep; Dan Doherty; William B. Dobyns; Grazia M.S. Mancini

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MARK2 variants cause autism spectrum disorder via the downregulation of WNT/b-catenin signaling pathway

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2024-11-01

OAAI

Gong, 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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Missense variants in RPH3A cause defects in excitatory synaptic function and are associated with a clinically variable neurodevelopmental disorder

GENETICS IN MEDICINE

IF6.2

2023-11-01

OAAI

Pavinato, Lisa; Stanic, Jennifer; Barzasi, Marta; Gurgone, Antonia; Chiantia, Giuseppe; Cipriani, Valentina; Eberini, Ivano; Palazzolo, Luca; Di Luca, Monica; Costa, Alex; Marcantoni, Andrea; Biamino, Elisa; Spada, Marco; Hiatt, Susan M.; Kelley, Whitley, V; Vestito, Letizia; Efthymiou, Stephanie; Chand, Prem; Kaiyrzhanov, Rauan; Bruselles, Alessandro; Cardaropoli, Simona; Tartaglia, Marco; De Rubies, Silvia; Buxbaum, Joseph D.; Smedley, Damian; Ferrero, Giovanni Battista; Giustetto, Maurizio; Gardoni, Fabrizio; Brusco, Alfredo

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Poison exon annotations improve the yield of clinically relevant variants in genomic diagnostic testing

GENETICS IN MEDICINE

IF6.2

2023-08-01

OAAI

Felker, Stephanie A.; Lawlor, James M. J.; Hiatt, Susan M.; Thompson, Michelle L.; Latner, Donald R.; Finnila, Candice R.; Bowling, Kevin M.; Bonnstetter, Zachary T.; Bonini, Katherine E.; Kelly, Nicole R.; V. Kelley, Whitley; Hurst, Anna C. E.; Rashid, Salman; Kelly, Melissa A.; Nakouzi, Ghunwa; Hendon, Laura G.; Bebin, E. Martina; Kenny, Eimear E.; Cooper, Gregory M.

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Parents' Perspectives on the Utility of Genomic Sequencing in the Neonatal Intensive Care Unit

JOURNAL OF PERSONALIZED MEDICINE

IF3

2023-06-21

OAAI

Lemke, Amy A.; Thompson, Michelle L.; Gimpel, Emily C.; McNamara, Katelyn C.; Rich, Carla A.; Finnila, Candice R.; Cochran, Meagan E.; Lawlor, James M. J.; East, Kelly M.; Bowling, Kevin M.; Latner, Donald R.; Hiatt, Susan M.; Amaral, Michelle D.; Kelley, Whitley V.; Greve, Veronica; Gray, David E.; Felker, Stephanie A.; Meddaugh, Hannah; Cannon, Ashley; Luedecke, Amanda; Jackson, Kelly E.; Hendon, Laura G.; Janani, Hillary M.; Johnston, Marla; Merin, Lee Ann; Deans, Sarah L.; Tuura, Carly; Hughes, Trent; Williams, Heather; Laborde, Kelly; Neu, Matthew B.; Patrick-Esteve, Jessica; Hurst, Anna C. E.; Kirmse, Brian M.; Savich, Renate; Spedale, Steven B.; Knight, Sara J.; Barsh, Gregory S.; Korf, Bruce R.; Cooper, Gregory M.; Brothers, Kyle B.

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Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2023-02-01

OAAI

Hiatt, Susan M.; Trajkova, Slavica; Sebastiano, Matteo Rossi; Partridge, E. Christopher; Abidi, Fatima E.; Anderson, Ashlyn; Ansar, Muhammad; Antonarakis, Stylianos E.; Azadi, Azadeh; Bachmann-Gagescu, Ruxandra; Bartuli, Andrea; Benech, Caroline; Berkowitz, Jennifer L.; Betti, Michael J.; Brusco, Alfredo; Cannon, Ashley; Caron, Giulia; Chen, Yanmin; Cochran, Meagan E.; Coleman, Tanner F.; Crenshaw, Molly M.; Cuisset, Laurence; Curry, Cynthia J.; Darvish, Hossein; Demirdas, Serwet; Descartes, Maria; Douglas, Jessica; Dyment, David A.; Elloumi, Houda Zghal; Ermondi, Giuseppe; Faoucher, Marie; Farrow, Emily G.; Felker, Stephanie A.; Fisher, Heather; Hurst, Anna C. E.; Joset, Pascal; Kelly, Melissa A.; Kmoch, Stanislav; Leadem, Benjamin R.; Lyons, Michael J.; Macchiaiolo, Marina; Magner, Martin; Mandrile, Giorgia; Mattioli, Francesca; McEown, Megan; Meadows, Sarah K.; Medne, Livija; Meeks, Naomi J. L.; Montgomery, Sarah; Napier, Melanie P.; Natowicz, Marvin; Newberry, Kimberly M.; Niceta, Marcello; Noskova, Lenka; Nowak, Catherine B.; Noyes, Amanda G.; Osmond, Matthew; Prijoles, Eloise J.; Pugh, Jada; Pullano, Verdiana; Quelin, Chloe; Rahimi-Aliabadi, Simin; Rauch, Anita; Redon, Sylvia; Reymond, Alexandre; Schwager, Caitlin R.; Sellars, Elizabeth A.; Scheuerle, Angela E.; Shukarova-Angelovska, Elena; Skraban, Cara; Stolerman, Elliot; Sullivan, Bonnie R.; Tartaglia, Marco; Thiffault, Isabelle; Uguen, Kevin; Umana, Luis A.; Bever, Yolande van; Crabben, Saskia N. van der; Slegtenhorst, Marjon A. van; Waisfisz, Quinten; Washington, Camerun; Rodan, Lance H.; Myers, Richard M.; Cooper, Gregory M.

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Genome sequencing as a first-line diagnostic test for hospitalized infants

GENETICS IN MEDICINE

IF6.2

2022-04-01

OAAI

Bowling, Kevin M.; Thompson, Michelle L.; Finnila, Candice R.; Hiatt, Susan M.; Latner, Donald R.; Amaral, Michelle D.; Lawlor, James M. J.; East, Kelly M.; Cochran, Meagan E.; Greve, Veronica; Kelley, Whitley, V; Gray, David E.; Felker, Stephanie A.; Meddaugh, Hannah; Cannon, Ashley; Luedecke, Amanda; Jackson, Kelly E.; Hendon, Laura G.; Janani, Hillary M.; Johnston, Marla; Merin, Lee Ann; Deans, Sarah L.; Tuura, Carly; Williams, Heather; Laborde, Kelly; Neu, Matthew B.; Patrick-Esteve, Jessica; Hurst, Anna C. E.; Kandasamy, Jegen; Carlo, Wally; Brothers, Kyle B.; Kirmse, Brian M.; Savich, Renate; Superneau, Duane; Spedale, Steven B.; Knight, Sara J.; Barsh, Gregory S.; Korf, Bruce R.; Cooper, Gregory M.

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Parental impact of genome sequencing during the neonatal period

GENETICS IN MEDICINE

IF6.2

2022-03-01

OAAI

Brothers, Kyle; Rich, Carla; Gimpel, Emily; East, Kelly; Cochran, Meagan; Greve, Veronica; Kelley, Whitley V.; Jackson, Kelly; Hendon, Laura; Luedecke, Amanda; Janani, Hillary; Meddaugh, Hannah; Latner, Donald; Bowling, Kevin; Thompson, Michelle; Finnila, Candice; Hiatt, Susan; Amaral, Michelle; Lawlor, James; Gray, David; Felker, Stephanie; Cannon, Ashley; Johnston, Marla; Merin, Lee Ann; Deans, Sarah; Tuura, Carly; Williams, Heather; Laborde, Kelly; Neu, Matthew; Patrick-Esteve, Jessica; Hurst, Anna; Kandasamy, Jegen; Carlo, Waldemar; Kirmse, Brian; Savich, Renate; Superneau, Duane; Spedale, Steven; Knight, Sara; Barsh, Gregory; Korf, Bruce; Cooper, Gregory

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The clinical significance of poisoned splicing variants in early-onset neurodevelopmental disorders

GENETICS IN MEDICINE

IF6.2

2022-03-01

OAAI

Felker, Stephanie; Lawlor, James; Latner, Donald; Thompson, Michelle; Bowling, Kevin; Hiatt, Susan; Finnila, Candice; Cooper, Gregory

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Expansion of long-read genome sequencing for the molecular diagnosis of neurodevelopmental disorders and multiple congenital anomalies

GENETICS IN MEDICINE

IF6.2

2022-03-01

OAAI

Hiatt, Susan; Lawlor, James; Handley, Lori; Bonnstetter, Zachary; Jenkins, Jerry; Lovell, John; Holt, James; Finnila, Candice; Thompson, Michelle; Latner, Donald; Partridge, Christopher; Plott, Christopher; Boston, Lori Beth; Williams, Melissa; Bowling, Kevin; Grimwood, Jane; Schmutz, Jeremy; Cooper, Gregory

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Long-read genome sequencing secondary processing pipelines provide variant call accuracy that exceeds current clinical standards for short-read genome sequencing

GENETICS IN MEDICINE

IF6.2

2022-03-01

OAAI

Holt, James; Handley, Lori; Lawlor, James; Hiatt, Susan; Cooper, Gregory; Grimwood, Jane; Nakouzi, Ghunwa

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SouthSeq: Genome sequencing for a diverse population of hospitalized infants

GENETICS IN MEDICINE

IF6.2

2022-03-01

OAAI

Latner, Donald; Bowling, Kevin; Thompson, Michelle; Finnila, Candice; Hiatt, Susan; Amaral, Michelle; Lawlor, James; East, Kelly; Cochran, Meagan; Greve, Veronica; Kelley, Whitley V.; Gray, David; Felker, Stephanie; Meddaugh, Hannah; Cannon, Ashley; Luedecke, Amanda; Jackson, Kelly; Hendon, Laura; Janani, Hillary; Johnston, Marla; Merin, Lee Ann; Deans, Sarah; Tuura, Carly; Williams, Heather; Laborde, Kelly; Neu, Matthew; Patrick-Esteve, Jessica; Hurst, Anna; Kandasamy, Jegen; Carlo, Waldemar; Brothers, Kyle; Kirmse, Brian; Savich, Renate; Superneau, Duane; Spedale, Steven; Knight, Sara; Barsh, Gregory; Korf, Bruce; Cooper, Gregory

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Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2021-05-01

OAAI

Voisin, Norine; Schnur, Rhonda E.; Douzgou, Sofia; Hiatt, Susan M.; Rustad, Cecilie F.; Brown, Natasha J.; Earl, Dawn L.; Keren, Boris; Levchenko, Olga; Geuer, Sinje; Verheyen, Sarah; Johnson, Diana; Zarate, Yuri A.; Hancarova, Miroslava; Amor, David J.; Bebin, E. Martina; Blatterer, Jasmin; Brusco, Alfredo; Cappuccio, Gerarda; Charrow, Joel; Chatron, Nicolas; Cooper, Gregory M.; Courtin, Thomas; Dadali, Elena; Delafontaine, Julien; Del Giudice, Ennio; Doco, Martine; Douglas, Ganka; Eisenkolbl, Astrid; Funari, Tara; Giannuzzi, Giuliana; Gruber-Sedlmayr, Ursula; Guex, Nicolas; Heron, Delphine; Holla, Oystein L.; Hurst, Anna C. E.; Juusola, Jane; Kronn, David; Lavrov, Alexander; Lee, Crystle; Lorrain, Severine; Merckoll, Else; Mikhaleva, Anna; Norman, Jennifer; Pradervand, Sylvain; Prchalova, Darina; Rhodes, Lindsay; Sanders, Victoria R.; Sedlacek, Zdenek; Seebacher, Heidelis A.; Sellars, Elizabeth A.; Sirchia, Fabio; Takenouchi, Toshiki; Tanaka, Akemi J.; Taska-Tench, Heidi; Tonne, Elin; Tveten, Kristian; Vitiello, Giuseppina; Vlckova, Marketa; Uehara, Tomoko; Nava, Caroline; Yalcin, Binnaz; Kosaki, Kenjiro; Donnai, Dian; Mundlos, Stefan; Brunetti-Pierri, Nicola; Chung, Wendy K.; Reymond, Alexandre

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Long-read genome sequencing for the molecular diagnosis of neurodevelopmental disorders

HUMAN GENETICS AND GENOMICS ADVANCES

IF3.6

2021-04-01

OAAI

Hiatt, Susan M.; Lawlor, James M. J.; Handley, Lori H.; Ramaker, Ryne C.; Rogers, Brianne B.; Partridge, E. Christopher; Boston, Lori Beth; Williams, Melissa; Plott, Christopher B.; Jenkins, Jerry; Gray, David E.; Holt, James M.; Bowling, Kevin M.; Bebin, E. Martina; Grimwood, Jane; Schmutz, Jeremy; Cooper, Gregory M.

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BAZ2B haploinsufficiency as a cause of developmental delay, intellectual disability, and autism spectrum disorder

HUMAN MUTATION

IF3.7

2020-02-07

OAAI

Scott, Tiana M.; Guo, Hui; Eichler, Evan E.; Rosenfeld, Jill A.; Pang, Kaifang; Liu, Zhandong; Lalani, Seema; Bi, Weimin; Yang, Yaping; Bacino, Carlos A.; Streff, Haley; Lewis, Andrea M.; Koenig, Mary K.; Thiffault, Isabelle; Bellomo, Allison; Everman, David B.; Jones, Julie R.; Stevenson, Roger E.; Bernier, Raphael; Gilissen, Christian; Pfundt, Rolph; Hiatt, Susan M.; Cooper, Gregory M.; Holder, Jimmy L.; Scott, Daryl A.

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ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder (vol 104, pg 319, 2019)

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2020-01-01

OAAI

Carapito, Raphael; Ivanova, Ekaterina L.; Morlon, Aurore; Meng, Linyan; Molitor, Anne; Erdmann, Eva; Kieffer, Bruno; Pichot, Angelique; Naegely, Lydie; Kolmer, Aline; Paul, NicodeMe; Hanauer, Antoine; Mau-Them, Frederic Tran; Jean-Marcais, Nolwenn; Hiatt, Susan M.; Cooper, Gregory M.; Tvrdik, Tatiana; Muir, Alison M.; Dimartino, Clemantine; Chopra, Maya; Amiel, Jeanne; Gordon, Christopher T.; Dutreux, Fabien; Garde, Aurore; Thauvin-Robinet, Christel; Wang, Xia; Leduc, Magalie S.; Phillips, Meredith; Crawford, Heather P.; Kukolich, Mary K.; Hunt, David; Harrison, Victoria; Kharbanda, Mira; Smigiel, Robert; Gold, Nina; Hung, Christina Y.; Viskochil, David H.; Dugan, Sarah L.; Bayrak-Toydemir, Pinar; Joly-Helas, Geraldine; Guerrot, Anne-Marie; Schluth-Bolard, Caroline; Rio, Marlene; Wentzensen, Ingrid M.; McWalter, Kirsty; Schnur, Rhonda E.; Lewis, Andrea M.; Lalani, Seema R.; Mensah-Bonsu, Noel; Ceraline, Jocelyn; Sun, Zijie; Ploski, Rafal; Bacino, Carlos A.; Mefford, Heather C.; Faivre, Laurence; Bodamer, Olaf; Chelly, Jamel; Isidor, Bertrand; Bahram, Seiamak

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Variants in MED12L, encoding a subunit of the mediator kinase module, are responsible for intellectual disability associated with transcriptional defect

GENETICS IN MEDICINE

IF6.2

2019-12-01

OAAI

Nizon, Mathilde; Laugel, Vincent; Flanigan, Kevin M.; Pastore, Matthew; Waldrop, Megan A.; Rosenfeld, Jill A.; Marom, Ronit; Xiao, Rui; Gerard, Amanda; Pichon, Olivier; Le Caignec, Cedric; Gerard, Marion; Dieterich, Klaus; Cho, Megan Truitt; McWalter, Kirsty; Hiatt, Susan; Thompson, Michelle L.; Bezieau, Stephane; Wadley, Alexandrea; Wierenga, Klaas J.; Egly, Jean-Marc; Isidor, Bertrand

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Variants in MED12L, encoding a subunit of the Mediator kinase module, are responsible for intellectual disability associated with transcriptional defect (June, 10.1038/S41436-019-0557-3, 2019)

GENETICS IN MEDICINE

IF6.2

2019-11-01

OAAI

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Research Directions