Daryl A Scott (Daryl Scott)

ORCID

Publication Activity (10 Years)

Years Active: 2016-2024
Publications (10 Years): 57

Top Venues

American journal of medical genetics. Part A

Nature communications

Journal of pediatric genetics

Science advances

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

Publications

Simon Früh, Sami Boudkkazi, Peter Koppensteiner, Vita Sereikaite, Li-Yuan Chen, Diego Fernandez-Fernandez, Pascal Dominic Rem, Daniel Ulrich, Jochen Schwenk, Ziyang Chen, Elodie Le Monnier, Thorsten Fritzius, Sabrina M Innocenti, Valérie Besseyrias, Luca Trovò, Michal Stawarski, Emanuela Argilli, Elliott H Sherr, Bregje van Bon, Erik-Jan Kamsteeg, Maria Iascone, Alba Pilotta, Maria R Cutrì, Mahshid S Azamian, Andrés Hernández-García, Seema R Lalani, Jill Anne Rosenfeld, Xiaonan Zhao, Tiphanie P Vogel, Herda Ona, Daryl A Scott, Peter Scheiffele, Kristian Stro Mgaard, Mehdi Tafti, Martin Gassmann, Bernd Fakler, Ryuichi Shigemoto, Bernhard Bettler
Monoallelic de novo AJAP1 loss-of-function variants disrupt trans-synaptic control of neurotransmitter release. Science advances 10 (28) (2024)
Andrea Accogli, Saurabh Shakya, Taewoo Yang, Christine Insinna, Soo Yeon Kim, David Bell, Kirill R Butov, Mariasavina Severino, Marcello Niceta, Marcello Scala, Hyun Sik Lee, Taekyeong Yoo, Jimmy Stauffer, Xueliang Zhu, Chiara Fiorillo, Marina Pedemonte, Maria C Diana, Simona Baldassari, Viktoria Zakharova, Anna Shcherbina, Yulia Rodina, Christina R Fagerberg, Laura Sønderberg Roos, Jolanta Wierzba, Artur Dobosz, Amanda Gerard, Lorraine Potocki, Jill Anne Rosenfeld, Seema R Lalani, Tiana M Scott, Daryl A Scott, Mahshid S Azamian, Raymond Louie, Hannah W Moore, Neena L Champaigne, Grace Hollingsworth, Annalaura Torella, Vincenzo Nigro, Rafal Ploski, Vincenzo Salpietro, Federico Zara, Simone Pizzi, Giovanni Chillemi, Marzia Ognibene, Erin Cooney, Jenny Do, Anders Linnemann, Martin Jakob Larsen, Suzanne Specht, Kylie J Walters, Hee-Jung Choi, Murim Choi, Tartaglia Marco, Phillippe Youkharibache, Jong-Hee Chae, Valeria Capra, Sung-Gyoo Park, Christopher J Westlake
Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation. Nature communications 15 (1) (2024)
Andrea Accogli, Saurabh Shakya, Taewoo Yang, Christine Insinna, Soo Yeon Kim, David Bell, Kirill R Butov, Mariasavina Severino, Marcello Niceta, Marcello Scala, Hyun Sik Lee, Taekyeong Yoo, Jimmy Stauffer, Xueliang Zhu, Chiara Fiorillo, Marina Pedemonte, Maria C Diana, Simona Baldassari, Viktoria Zakharova, Anna Shcherbina, Yulia Rodina, Christina R Fagerberg, Laura Sønderberg Roos, Jolanta Wierzba, Artur Dobosz, Amanda Gerard, Lorraine Potocki, Jill Anne Rosenfeld, Seema R Lalani, Tiana M Scott, Daryl A Scott, Mahshid S Azamian, Raymond Louie, Hannah W Moore, Neena L Champaigne, Grace Hollingsworth, Annalaura Torella, Vincenzo Nigro, Rafal Ploski, Vincenzo Salpietro, Federico Zara, Simone Pizzi, Giovanni Chillemi, Marzia Ognibene, Erin Cooney, Jenny Do, Anders Linnemann, Martin Jakob Larsen, Suzanne Specht, Kylie J Walters, Hee-Jung Choi, Murim Choi, Tartaglia Marco, Phillippe Youkharibache, Jong-Hee Chae, Valeria Capra, Sung-Gyoo Park, Christopher J Westlake
Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation. Nature communications 15 (1) (2024)
Emily R Waskow, null null, Lisa T Emrick, Jill A Rosenfeld, Shamika Ketkar, Lindsay C Burrage, Daryl A Scott
Recessive loss-of-function variants in DPH1 identified as the molecular cause in a sibling pair previously diagnosed with Fine-Lubinsky syndrome. American journal of medical genetics. Part A (2024)
Simon Früh, Sami Boudkkazi, Peter Koppensteiner, Vita Sereikaite, Li-Yuan Chen, Diego Fernandez-Fernandez, Pascal Dominic Rem, Daniel Ulrich, Jochen Schwenk, Ziyang Chen, Elodie Le Monnier, Thorsten Fritzius, Sabrina M Innocenti, Valérie Besseyrias, Luca Trovò, Michal Stawarski, Emanuela Argilli, Elliott H Sherr, Bregje van Bon, Erik-Jan Kamsteeg, Maria Iascone, Alba Pilotta, Maria R Cutrì, Mahshid S Azamian, Andrés Hernández-García, Seema R Lalani, Jill Anne Rosenfeld, Xiaonan Zhao, Tiphanie P Vogel, Herda Ona, Daryl A Scott, Peter Scheiffele, Kristian Stro Mgaard, Mehdi Tafti, Martin Gassmann, Bernd Fakler, Ryuichi Shigemoto, Bernhard Bettler
Monoallelic de novo AJAP1 loss-of-function variants disrupt trans-synaptic control of neurotransmitter release. Science advances 10 (28) (2024)
Simon Früh, Sami Boudkkazi, Peter Koppensteiner, Vita Sereikaite, Li-Yuan Chen, Diego Fernandez-Fernandez, Pascal Dominic Rem, Daniel Ulrich, Jochen Schwenk, Ziyang Chen, Elodie Le Monnier, Thorsten Fritzius, Sabrina M Innocenti, Valérie Besseyrias, Luca Trovò, Michal Stawarski, Emanuela Argilli, Elliott H Sherr, Bregje van Bon, Erik-Jan Kamsteeg, Maria Iascone, Alba Pilotta, Maria R Cutrì, Mahshid S Azamian, Andrés Hernández-García, Seema R Lalani, Jill Anne Rosenfeld, Xiaonan Zhao, Tiphanie P Vogel, Herda Ona, Daryl A Scott, Peter Scheiffele, Kristian Stro Mgaard, Mehdi Tafti, Martin Gassmann, Bernd Fakler, Ryuichi Shigemoto, Bernhard Bettler
Monoallelic de novo AJAP1 loss-of-function variants disrupt trans-synaptic control of neurotransmitter release. Science advances 10 (28) (2024)
Andrea Accogli, Saurabh Shakya, Taewoo Yang, Christine Insinna, Soo Yeon Kim, David Bell, Kirill R Butov, Mariasavina Severino, Marcello Niceta, Marcello Scala, Hyun Sik Lee, Taekyeong Yoo, Jimmy Stauffer, Xueliang Zhu, Chiara Fiorillo, Marina Pedemonte, Maria C Diana, Simona Baldassari, Viktoria Zakharova, Anna Shcherbina, Yulia Rodina, Christina R Fagerberg, Laura Sønderberg Roos, Jolanta Wierzba, Artur Dobosz, Amanda Gerard, Lorraine Potocki, Jill Anne Rosenfeld, Seema R Lalani, Tiana M Scott, Daryl A Scott, Mahshid S Azamian, Raymond Louie, Hannah W Moore, Neena L Champaigne, Grace Hollingsworth, Annalaura Torella, Vincenzo Nigro, Rafal Ploski, Vincenzo Salpietro, Federico Zara, Simone Pizzi, Giovanni Chillemi, Marzia Ognibene, Erin Cooney, Jenny Do, Anders Linnemann, Martin Jakob Larsen, Suzanne Specht, Kylie J Walters, Hee-Jung Choi, Murim Choi, Tartaglia Marco, Phillippe Youkharibache, Jong-Hee Chae, Valeria Capra, Sung-Gyoo Park, Christopher J Westlake
Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation. Nature communications 15 (1) (2024)
Eric C Kao, Elizabeth A Mizerik, Carlos A Bacino, Hongzheng Dai, Liesbeth Vossaert, Daryl A Scott
MED12 Loss-of-Function Variants as a Cause of Congenital Diaphragmatic Hernia in Females With Hardikar Syndrome and Nonspecific Intellectual Disability. American journal of medical genetics. Part A (2024)
Andrea Accogli, Saurabh Shakya, Taewoo Yang, Christine Insinna, Soo Yeon Kim, David Bell, Kirill R Butov, Mariasavina Severino, Marcello Niceta, Marcello Scala, Hyun Sik Lee, Taekyeong Yoo, Jimmy Stauffer, Xueliang Zhu, Chiara Fiorillo, Marina Pedemonte, Maria C Diana, Simona Baldassari, Viktoria Zakharova, Anna Shcherbina, Yulia Rodina, Christina R Fagerberg, Laura Sønderberg Roos, Jolanta Wierzba, Artur Dobosz, Amanda Gerard, Lorraine Potocki, Jill Anne Rosenfeld, Seema R Lalani, Tiana M Scott, Daryl A Scott, Mahshid S Azamian, Raymond Louie, Hannah W Moore, Neena L Champaigne, Grace Hollingsworth, Annalaura Torella, Vincenzo Nigro, Rafal Ploski, Vincenzo Salpietro, Federico Zara, Simone Pizzi, Giovanni Chillemi, Marzia Ognibene, Erin Cooney, Jenny Do, Anders Linnemann, Martin Jakob Larsen, Suzanne Specht, Kylie J Walters, Hee-Jung Choi, Murim Choi, Tartaglia Marco, Phillippe Youkharibache, Jong-Hee Chae, Valeria Capra, Sung-Gyoo Park, Christopher J Westlake
Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation. Nature communications 15 (1) (2024)
Emily R Waskow, null null, Lisa T Emrick, Jill A Rosenfeld, Shamika Ketkar, Lindsay C Burrage, Daryl A Scott
Recessive loss-of-function variants in DPH1 identified as the molecular cause in a sibling pair previously diagnosed with Fine-Lubinsky syndrome. American journal of medical genetics. Part A (2024)
Andrea Accogli, Saurabh Shakya, Taewoo Yang, Christine Insinna, Soo Yeon Kim, David Bell, Kirill R Butov, Mariasavina Severino, Marcello Niceta, Marcello Scala, Hyun Sik Lee, Taekyeong Yoo, Jimmy Stauffer, Xueliang Zhu, Chiara Fiorillo, Marina Pedemonte, Maria C Diana, Simona Baldassari, Viktoria Zakharova, Anna Shcherbina, Yulia Rodina, Christina R Fagerberg, Laura Sønderberg Roos, Jolanta Wierzba, Artur Dobosz, Amanda Gerard, Lorraine Potocki, Jill Anne Rosenfeld, Seema R Lalani, Tiana M Scott, Daryl A Scott, Mahshid S Azamian, Raymond Louie, Hannah W Moore, Neena L Champaigne, Grace Hollingsworth, Annalaura Torella, Vincenzo Nigro, Rafal Ploski, Vincenzo Salpietro, Federico Zara, Simone Pizzi, Giovanni Chillemi, Marzia Ognibene, Erin Cooney, Jenny Do, Anders Linnemann, Martin Jakob Larsen, Suzanne Specht, Kylie J Walters, Hee-Jung Choi, Murim Choi, Tartaglia Marco, Phillippe Youkharibache, Jong-Hee Chae, Valeria Capra, Sung-Gyoo Park, Christopher J Westlake
Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation. Nature communications 15 (1) (2024)
Ivy Kn Chiang, David T Humphreys, Richard J Mills, Peter Kaltzis, Shikha Pachauri, Matthew S Graus, Diptarka Saha, Zhijian Wu, Paul Young, Choon Boon Sim, Tara Davidson, Andres Hernandez-Garcia, Chad A Shaw, Alexander Renwick, Daryl A Scott, Enzo R Porrello, Emily S Wong, James E Hudson, Kristy Red-Horse, Gonzalo Del Monte-Nieto, Mathias Francois
Sox7-positive endothelial progenitors establish coronary arteries and govern ventricular compaction. EMBO reports (2023)
Ryan J Kramer, Amir Nima Fatahian, Alice Chan, Jeffery Mortenson, Jennifer Osher, Bo Sun, Lauren E Parker, Michael B Rosamilia, Kyra B Potter, Kaila Moore, Sage L Atkins, Jill Anne Rosenfeld, Alona Birjiniuk, Edward Jones, Taylor S Howard, Jeffrey J Kim, Daryl A Scott, Seema Lalani, Omid M T Rouzbehani, Samantha Kaplan, Marissa A Hathaway, Jennifer L Cohen, S Yukiko Asaki, Hugo R Martinez, Sihem Boudina, Andrew P Landstrom
PRDM16 Deletion Is Associated With Sex-dependent Cardiomyopathy and Cardiac Mortality: A Translational, Multi-Institutional Cohort Study. Circulation. Genomic and precision medicine (2023)
Christina Y Miyake, Saad A Ehsan, Lilei Zhang, Samuel J Mackenzie, Mahshid S Azamian, Daryl A Scott, Andres Hernandez-Garcia, Seema R Lalani
Early initiation of B-vitamin supplementation may reduce symptoms and explain intrafamilial variability: Insights from two sibling pairs from the TANGO2 natural history study. American journal of medical genetics. Part A (2023)
Katherine E Pendleton, Andres Hernandez-Garcia, Jennifer M Lyu, Ian M Campbell, Chad A Shaw, Julie Vogt, Frances A High, Patricia K Donahoe, Wendy K Chung, Daryl A Scott
FOXP1 Haploinsufficiency Contributes to the Development of Congenital Diaphragmatic Hernia. Journal of pediatric genetics 13 (1) (2023)
Arezoo Mohajeri, Maryam Vaseghi-Shanjani, Jill A Rosenfeld, Gui Xiang Yang, Henry Lu, Mehul Sharma, Susan Lin, Areesha Salman, Meriam Waqas, Mahshid Sababi Azamian, Kim C Worley, Kate L Del Bel, Frederick K Kozak, Ronak Rahmanian, Catherine M Biggs, Kyla J Hildebrand, Seema R Lalani, Sarah K Nicholas, Daryl A Scott, Sara Mostafavi, Clara van Karnebeek, Erika Henkelman, Jessica Halparin, Connie L Yang, Linlea Armstrong, null null, null null, Suzanne C Tough, Anna Lehman
Dominant negative variants in IKZF2 cause ICHAD syndrome, a new disorder characterised by immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay. Journal of medical genetics (2023)
Katherine E Pendleton, Andres Hernandez-Garcia, Jennifer M Lyu, Ian M Campbell, Chad A Shaw, Julie Vogt, Frances A High, Patricia K Donahoe, Wendy K Chung, Daryl A Scott
FOXP1 Haploinsufficiency Contributes to the Development of Congenital Diaphragmatic Hernia. Journal of pediatric genetics 13 (1) (2023)
Katherine E Pendleton, Andres Hernandez-Garcia, Jennifer M Lyu, Ian M Campbell, Chad A Shaw, Julie Vogt, Frances A High, Patricia K Donahoe, Wendy K Chung, Daryl A Scott
FOXP1 Haploinsufficiency Contributes to the Development of Congenital Diaphragmatic Hernia. Journal of pediatric genetics 13 (1) (2023)
Tara N Yankee, Sungryong Oh, Emma Wentworth Winchester, Andrea Wilderman, Kelsey Robinson, Tia Gordon, Jill Anne Rosenfeld, Jennifer VanOudenhove, Daryl A Scott, Elizabeth J Leslie, Justin L Cotney
Integrative analysis of transcriptome dynamics during human craniofacial development identifies candidate disease genes. Nature communications 14 (1) (2023)
Emily A Huth, Xiaonan Zhao, Nichole Owen, Pamela N Luna, Ida Vogel, Inger L H Dorf, Shelagh Joss, Jill Clayton-Smith, Michael J Parker, Jacoba J Louw, Stephen Brown, Jeroen Breckpot, Alison Kraus, Erina Sasaki, Usha Kini, Trent Burgess, Tiong Yang Tan, Ruth Armstrong, Katherine Neas, Giovanni B Ferrero, Alfredo Brusco, Wilhelmina S Kerstjens-Frederikse, Julia Rankin, Lindsey R Helvaty, Benjamin J Landis, Gabrielle C Geddes, Kim L McBride, Stephanie M Ware, Chad A Shaw, Seema R Lalani, Jill Anne Rosenfeld, Daryl A Scott
Clinical exome sequencing efficacy and phenotypic expansions involving anomalous pulmonary venous return. European journal of human genetics : EJHG (2023)
Soha Sewani, Mahshid S Azamian, Bryce A Mendelsohn, Frederic Tran Mau-Them, Manon Réda, Sophie Nambot, Bertrand Isidor, Jasper J van der Smagt, Joseph J Shen, Amelle Shillington, Lori White, Houda Zghal Elloumi, Peter R Baker, Shayna Svihovec, Kathleen Brown, Yvonne Koopman-Keemink, Mariette J V Hoffer, Inge M M Lakeman, Elise Brischoux-Boucher, Maria Kinali, Xiaonan Zhao, Seema R Lalani, Daryl A Scott
Neurodevelopmental and other phenotypes recurrently associated with heterozygous BAZ2B loss-of-function variants. American journal of medical genetics. Part A (2023)
Katherine E Pendleton, Andres Hernandez-Garcia, Jennifer M Lyu, Ian M Campbell, Chad A Shaw, Julie Vogt, Frances A High, Patricia K Donahoe, Wendy K Chung, Daryl A Scott
FOXP1 Haploinsufficiency Contributes to the Development of Congenital Diaphragmatic Hernia. Journal of pediatric genetics 13 (1) (2023)
Jeremy M Schraw, Renata H Benjamin, Charles J Shumate, Mark A Canfield, Daryl A Scott, Scott D McLean, Hope Northrup, Angela E Scheuerle, Christian Patrick Schaaf, Joseph W Ray, Han Chen, A J Agopian, Philip J Lupo
Patterns of co-occurring birth defects in children with anotia and microtia. American journal of medical genetics. Part A 191 (3) (2022)
Yoel Gofin, Xiaonan Zhao, Amanda Gerard, Fernando Scaglia, Michael F Wangler, Samantha A Schrier Vergano, Daryl A Scott
Evidence for an association between Coffin-Siris syndrome and congenital diaphragmatic hernia. American journal of medical genetics. Part A 188 (9) (2022)
Huiyan Huang, Jiehong Pan, David R Spielberg, Neil A Hanchard, Daryl A Scott, Lindsay C Burrage, Hongzheng Dai, David Murdock, Jill Anne Rosenfeld, Ariz Mohammad, Tao Huang, Anika G Lindsey, Hyori Kim, Jian Chen, Avinash Ramu, Stephanie A Morrison, Zachary D Dawson, Alex Z Hu, Eric Tycksen, Gary A Silverman, Dustin Baldridge, Jennifer A Wambach, null null, Stephen C Pak, Steven L Brody, Tim Schedl
A dominant negative variant of RAB5B disrupts maturation of surfactant protein B and surfactant protein C. Proceedings of the National Academy of Sciences of the United States of America 119 (6) (2022)
Mary R Sy, Jaynee Chauhan, Katrina Prescott, Aliza Imam, Alison Kraus, Ana Beleza, Lee Salkeld, Saraswati Hosdurga, Michael Parker, Pradeep Vasudevan, Lily Islam, Himanshu Goel, Nicole Bain, Soo-Mi Park, Shehla Mohammed, Klaus Dieterich, Charles Coutton, Véronique Satre, Gaëlle Vieville, Alan Donaldson, Claire Beneteau, Jamal Ghoumid, Kris Van Den Bogaert, Anneleen Boogaerts, Elise Boudry, Clémence Vanlerberghe, Florence Petit, Laura Bernardini, Barbara Torres, Teresa Mattina, Diana Carli, Giorgia Mandrile, Michele Pinelli, Nicola Brunetti-Pierri, Katherine Neas, Rachel Beddow, Pernille M Tørring, Flavio Faletra, Beatrice Spedicati, Paolo Gasparini, Alessandro Mussa, Giovanni Battista Ferrero, Anne Lampe, Wayne Lam, Weimin Bi, Carlos A Bacino, Akela Kuwahara, Jeffrey O Bush, Xiaonan Zhao, Pamela N Luna, Chad A Shaw, Jill A Rosenfeld, Daryl A Scott
Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus. American journal of medical genetics. Part A 188 (12) (2022)
Ashanta Merriweather, David R Murdock, Jill A Rosenfeld, Hongzheng Dai, Shamika Ketkar, Lisa Emrick, Sarah Nicholas, Richard A Lewis, null null, Carlos A Bacino, Daryl A Scott, Brendan Lee, Vernon Reid Sutton, Lorraine Potocki, Lindsay C Burrage
A novel, de novo intronic variant in POGZ causes White-Sutton syndrome. American journal of medical genetics. Part A 188 (7) (2022)
Jeremy M Schraw, Renata H Benjamin, Charles J Shumate, Mark A Canfield, Daryl A Scott, Scott D McLean, Hope Northrup, Angela E Scheuerle, Christian Patrick Schaaf, Joseph W Ray, Han Chen, A J Agopian, Philip J Lupo
Patterns of co-occurring birth defects in children with anotia and microtia. American journal of medical genetics. Part A (2022)
Jeremy M Schraw, Renata H Benjamin, Charles J Shumate, Mark A Canfield, Daryl A Scott, Scott D McLean, Hope Northrup, Angela E Scheuerle, Christian Patrick Schaaf, Joseph W Ray, Han Chen, A J Agopian, Philip J Lupo
Patterns of co-occurring birth defects in children with anotia and microtia. American journal of medical genetics. Part A 191 (3) (2022)
Raymond Belanger Deloge, Xiaonan Zhao, Pamela N Luna, Chad A Shaw, Jill Anne Rosenfeld, Daryl A Scott
High molecular diagnostic yields and novel phenotypic expansions involving syndromic anorectal malformations. European journal of human genetics : EJHG (2022)
Yoel Gofin, Tianyun Wang, Madelyn A Gillentine, Tiana M Scott, Aliska M Berry, Mahshid S Azamian, Casie A Genetti, Pankaj B Agrawal, Jonathan Picker, Monica Hsiung Wojcik, Mauricio R Delgado, Sally-Ann Lynch, Stephen W Scherer, Jennifer L Howe, Carlos A Bacino, Stephanie DiTroia, Grace E VanNoy, Anne H O'Donnell-Luria, Seema R Lalani, William D Graf, Jill Anne Rosenfeld, Evan E Eichler, Rachel K Earl, Daryl A Scott
Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency. Human mutation 43 (4) (2022)
Jeremy M Schraw, Renata H Benjamin, Charles J Shumate, Mark A Canfield, Daryl A Scott, Scott D McLean, Hope Northrup, Angela E Scheuerle, Christian Patrick Schaaf, Joseph W Ray, Han Chen, A J Agopian, Philip J Lupo
Patterns of co-occurring birth defects in children with anotia and microtia. American journal of medical genetics. Part A 191 (3) (2022)
Amy Hardcastle, Aliska M Berry, Ian M Campbell, Xiaonan Zhao, Pengfei Liu, Amanda E Gerard, Jill A Rosenfeld, Saumya D Sisoudiya, Andres Hernandez-Garcia, Sara Loddo, Silvia Di Tommaso, Antonio Novelli, Maria Lisa Dentici, Rossella Capolino, Maria C Digilio, Ludovico Graziani, Cecilie F Rustad, Katherine Neas, Giovanni B Ferrero, Alfredo Brusco, Eleonora Di Gregorio, Diana Wellesley, Claire Beneteau, Madeleine Joubert, Kris Van Den Bogaert, Anneleen Boogaerts, Dominic J McMullan, John Dean, Maria G Giuffrida, Laura Bernardini, Vinod Varghese, Nora L Shannon, Rachel E Harrison, Wayne W K Lam, Shane McKee, Peter D Turnpenny, Trevor Cole, Jenny Morton, Jacqueline Eason, Marilyn C Jones, Rebecca Hall, Michael Wright, Karen Horridge, Chad A Shaw, Wendy K Chung, Daryl A Scott
Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data. American journal of medical genetics. Part A 188 (10) (2022)
Daryl A Scott, Yoel Gofin, Aliska M Berry, April D Adams
Underlying genetic etiologies of congenital diaphragmatic hernia. Prenatal diagnosis 42 (3) (2022)
Jeremy M Schraw, Renata H Benjamin, Charles J Shumate, Mark A Canfield, Daryl A Scott, Scott D McLean, Hope Northrup, Angela E Scheuerle, Christian Patrick Schaaf, Joseph W Ray, Han Chen, A J Agopian, Philip J Lupo
Patterns of co-occurring birth defects in children with anotia and microtia. American journal of medical genetics. Part A 191 (3) (2022)
Yoel Gofin, Laura Palmer Mackay, Keren Machol, Sundeep Keswani, Lorraine Potocki, Eleonora Di Gregorio, Valeria Giorgia Naretto, Alfredo Brusco, Andres Hernandez-Garcia, Daryl A Scott
Evidence that FGFRL1 contributes to congenital diaphragmatic hernia development in humans. American journal of medical genetics. Part A 185 (3) (2021)
Tiana M Scott, Ian M Campbell, Andres Hernandez-Garcia, Seema R Lalani, Pengfei Liu, Chad A Shaw, Jill Anne Rosenfeld, Daryl A Scott
Clinical exome sequencing data reveal high diagnostic yields for congenital diaphragmatic hernia plus (CDH+) and new phenotypic expansions involving CDH. Journal of medical genetics (2021)
Bum Jun Kim, Daryl A Scott
RERE deficiency causes retinal and optic nerve atrophy through degeneration of retinal cells. Developmental dynamics : an official publication of the American Association of Anatomists 250 (10) (2021)
Diego Diaz, Renata H Benjamin, Maria Luisa Navarro Sanchez, Laura E Mitchell, Peter H Langlois, Mark A Canfield, Han Chen, Angela E Scheuerle, Christian P Schaaf, Daryl A Scott, Hope Northrup, Joseph W Ray, Scott D McLean, Michael D Swartz, Katherine L Ludorf, Philip J Lupo, A J Agopian
Patterns of congenital anomalies among individuals with trisomy 13 in Texas. American journal of medical genetics. Part A 185 (6) (2021)
Volkan Okur, Zefu Chen, Liesbeth Vossaert, Sandra Peacock, Jill Anne Rosenfeld, Lina Zhao, Haowei Du, Emily Calamaro, Amanda Gerard, Sen Zhao, Jill Kelsay, Ashley Lahr, Chloe Mighton, Hillary M Porter, Amy Siemon, Josh Silver, Shayna Svihovec, Chin-To Fong, Christina L Grant, Jordan Lerner-Ellis, Kandamurugu Manickam, Suneeta Madan-Khetarpal, Shawn E McCandless, Chantal F Morel, G Bradley Schaefer, Elizabeth M Berry-Kravis, Ryan Gates, Natalia Gomez-Ospina, Guixing Qiu, Terry Jianguo Zhang, Zhihong Wu, Linyan Meng, Pengfei Liu, Daryl A Scott, James R. Lupski, Christine M Eng, Nan Wu, Bo Yuan
De novo variants in H3-3A and H3-3B are associated with neurodevelopmental delay, dysmorphic features, and structural brain abnormalities. NPJ genomic medicine 6 (1) (2021)
Alona Birjiniuk, Kevin E Glinton, Natalie Villafranco, Suzanne Boyer, Jason Laufman, Elizabeth Mizerik, Daryl A Scott, Sarah H Elsea, Csaba Galambos, Nidhy P Varghese, Fernando Scaglia
Multiple mitochondrial dysfunctions syndrome 1: An unusual cause of developmental pulmonary hypertension. American journal of medical genetics. Part A 182 (4) (2020)
Omobola O Oluwafemi, Renata H Benjamin, Maria Luisa Navarro Sanchez, Angela E Scheuerle, Christian P Schaaf, Laura E Mitchell, Peter H Langlois, Mark A Canfield, Michael D Swartz, Daryl A Scott, Hope Northrup, Joseph W Ray, Scott D McLean, Katherine L Ludorf, Han Chen, Philip J Lupo, A J Agopian
Birth defects that co-occur with non-syndromic gastroschisis and omphalocele. American journal of medical genetics. Part A 182 (11) (2020)
Tiana M Scott, Hui Guo, Evan E Eichler, Jill Anne Rosenfeld, Kaifang Pang, Zhandong Liu, Seema Lalani, Weimin Bi, Yaping Yang, Carlos A Bacino, Haley Streff, Andrea M Lewis, Mary K Koenig, Isabelle Thiffault, Allison Bellomo, David B Everman, Julie R Jones, Roger E Stevenson, Raphael Bernier, Christian Gilissen, Rolph Pfundt, Susan M Hiatt, Gregory M Cooper, Jimmy L Holder, Daryl A Scott
BAZ2B haploinsufficiency as a cause of developmental delay, intellectual disability, and autism spectrum disorder. Human mutation 41 (5) (2020)
Shelley Gibson, Mahshid S Azamian, Seema R Lalani, Kimberly G Yen, V Reid Sutton, Daryl A Scott
Recessive ACO2 variants as a cause of isolated ophthalmologic phenotypes. American journal of medical genetics. Part A 182 (8) (2020)
Katherine Taylor Wild, Tia Gordon, Elizabeth Joyce Bhoj, Haowei Du, Shalini N Jhangiani, Jennifer E Posey, James R Lupski, Daryl A Scott, Elaine H Zackai
Congenital diaphragmatic hernia as a prominent feature of a SPECC1L-related syndrome. American journal of medical genetics. Part A 182 (12) (2020)
Virginia E Kimonis, Rehab Al Dubaisi, Andrew E Maclean, Kathy Hall, Lan Weiss, Alexander E Stover, Philip H Schwartz, Bethany Berg, Cheng Cheng, Sumit Parikh, Blair Rene Conner, Sitao Wu, Anton N Hasso, Daryl A Scott, Mary Kay Koenig, Rachid Karam, Sha Tang, Moyra Smith, Elizabeth Chao, Janneke Balk, Eli Hatchwell, Peggy S Eis
NUBPL mitochondrial disease: new patients and review of the genetic and clinical spectrum. Journal of medical genetics 58 (5) (2020)
Ximena Montenegro-Garreaud, Adam W Hansen, Michael M Khayat, Varuna Chander, Christopher M Grochowski, Yunyun Jiang, He Li, Tadahiro Mitani, Elena Kessler, Joy Jayaseelan, Hua Shen, Alper Gezdirici, Davut Pehlivan, Qingchang Meng, Jill A Rosenfeld, Shalini N Jhangiani, Suneeta Madan-Khetarpal, Daryl A Scott, Hugo Abarca-Barriga, Milana Trubnykova, Marie-Claude Gingras, Donna M Muzny, Jennifer E Posey, Pengfei Liu, James R. Lupski, Richard A Gibbs
Phenotypic expansion in KIF1A-related dominant disorders: A description of novel variants and review of published cases. Human mutation 41 (12) (2020)
Maham Sewani, Kimberly Nugent, Patrick R Blackburn, Jessica M Tarnowski, Andres Hernandez-Garcia, Jeanne Amiel, Sandra Whalen, Boris Keren, Thomas Courtin, Jill A Rosenfeld, Yaping Yang, Marc C Patterson, Pavel Pichurin, Scott D McLean, Daryl A Scott
Further delineation of the phenotypic spectrum associated with hemizygous loss-of-function variants in NONO. American journal of medical genetics. Part A 182 (4) (2019)
Linda Z Rossetti, Kevin Glinton, Bo Yuan, Pengfei Liu, Nishitha R Pillai, Elizabeth Mizerik, Pilar Magoulas, Jill Anne Rosenfeld, Lefkothea Karaviti, Vernon R Sutton, Seema R Lalani, Daryl A Scott
Review of the phenotypic spectrum associated with haploinsufficiency of MYRF. American journal of medical genetics. Part A 179 (7) (2019)
Hui Guo, Ying Li, Lu Shen, Tianyun Wang, Xiangbin Jia, Lijuan Liu, Tao Xu, Mengzhu Ou, Kendra Hoekzema, Huidan Wu, Madelyn A Gillentine, Cenying Liu, Hailun Ni, Pengwei Peng, Rongjuan Zhao, Yu Zhang, Chanika Phornphutkul, Alexander P A Stegmann, Carlos E Prada, Robert J Hopkin, Joseph T Shieh, Kirsty McWalter, Kristin G Monaghan, Peter M van Hasselt, Koen van Gassen, Ting Bai, Min Long, Lin Han, Yingting Quan, Meilin Chen, Yaowen Zhang, Kuokuo Li, Qiumeng Zhang, Jieqiong Tan, Tengfei Zhu, Yaning Liu, Nan Pang, Jing Peng, Daryl A Scott, Seema R Lalani, Mahshid S Azamian, Grazia M S Mancini, Darius J Adams, Malin Kvarnung, Anna Lindstrand, Ann Nordgren, Jonathan Pevsner, Ikeoluwa A Osei-Owusu, Corrado Romano, Giuseppe Calabrese, Ornella Galesi, Jozef Gecz, Eric A Haan, Judith Ranells, Melissa Racobaldo, Magnus Nordenskjold, Suneeta Madan-Khetarpal, Jessica Sebastian, Susie Ball, Xiaobing Zou, Jingping Zhao, Zhengmao Hu, Fan Xia, Pengfei Liu, Jill Anne Rosenfeld, Bert B A de Vries, Raphael A Bernier, Zhi-Qing David Xu, Honghui Li, Wei Xie, Robert B Hufnagel, Evan E Eichler, Kun Xia
Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission. Science advances 5 (9) (2019)
Nishitha R Pillai, Delia Yubero, Brian J Shayota, Alfonso Oyarzábal, Rajarshi Ghosh, Qin Sun, Mahshid S Azamian, Cesar Arjona, Núria Brandi, Francesc Palau, Seema R Lalani, Rafael Artuch, Angeles García-Cazorla, Daryl A Scott
Loss of CLTRN function produces a neuropsychiatric disorder and a biochemical phenotype that mimics Hartnup disease. American journal of medical genetics. Part A 179 (12) (2019)
Ash Zawerton, Cyril Mignot, Ashley Sigafoos, Patrick R Blackburn, Abdul Haseeb, Kirsty McWalter, Shoji Ichikawa, Caroline Nava, Boris Keren, Perrine Charles, Isabelle Marey, Anne-Claude Tabet, Jonathan Levy, Laurence Perrin, Andreas Hartmann, Gaetan Lesca, Caroline Schluth-Bolard, Pauline Monin, Sophie Dupuis-Girod, Maria J Guillen Sacoto, Rhonda E Schnur, Zehua Zhu, Alice Poisson, Salima El Chehadeh, Yves Alembik, Ange-Line Bruel, Daphne Lehalle, Sophie Nambot, Sébastien Moutton, Sylvie Odent, Sylvie Jaillard, Christele Dubourg, Yvonne Hilhorst-Hofstee, Tina Barbaro-Dieber, Lucia Ortega, Elizabeth J Bhoj, Diane Masser-Frye, Lynne M Bird, Kristin Lindstrom, Keri M Ramsey, Vinodh Narayanan, Emily Fassi, Marcia Willing, Trevor Cole, Claire G Salter, Rhoda Akilapa, Anthony Vandersteen, Natalie Canham, Patrick Rump, Erica H Gerkes, Jolien S Klein Wassink-Ruiter, Emilia Bijlsma, Mariëtte J V Hoffer, Marcelo Vargas, Antonina Wojcik, Florian Cherik, Christine Francannet, Jill Anne Rosenfeld, Keren Machol, Daryl A Scott, Carlos A Bacino, Xia Wang, Gary D Clark, Marta Bertoli, Simon Zwolinski, Rhys Huw Thomas, Ela Akay, Richard C Chang, Rebekah Bressi, Rossana Sanchez Russo, Myriam Srour, Laura Russell, Anne-Marie E Goyette, Lucie Dupuis, Roberto Mendoza-Londono, Catherine Karimov, Maries Joseph, Mathilde Nizon, Benjamin Cogné, Alma Kuechler, Amélie Piton, null null, Eric W Klee, Véronique Lefebvre, Karl J Clark, Christel Depienne
Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency. Genetics in medicine : official journal of the American College of Medical Genetics 22 (3) (2019)
Elizabeth Thomas, Andrea M Lewis, Yaping Yang, Sirisak Chanprasert, Lorraine Potocki, Daryl A Scott
Novel Missense Variants in ADAT3 as a Cause of Syndromic Intellectual Disability. Journal of pediatric genetics 8 (4) (2019)
Valerie K Jordan, Brieana Fregeau, Xiaoyan Ge, Jessica Giordano, Ronald J Wapner, Tugce B Balci, Melissa T Carter, John A Bernat, Amanda N Moccia, Anshika Srivastava, Donna M Martin, Stephanie L Bielas, John Pappas, Melissa D Svoboda, Marlène Rio, Nathalie Boddaert, Vincent Cantagrel, Andrea M Lewis, Fernando Scaglia, null null, Jennefer N Kohler, Jonathan A Bernstein, Annika M Dries, Jill A Rosenfeld, Colette DeFilippo, Willa Thorson, Yaping Yang, Elliott H Sherr, Weimin Bi, Daryl A Scott
Genotype-phenotype correlations in individuals with pathogenic RERE variants. Human mutation 39 (5) (2018)
Bum Jun Kim, Hitisha P Zaveri, Valerie K Jordan, Andres Hernandez-Garcia, Daron J Jacob, Diana L Zamora, Wei Yu, Robert J Schwartz, Daryl A Scott
RERE deficiency leads to decreased expression of GATA4 and the development of ventricular septal defects. Disease models & mechanisms 11 (9) (2018)
Christina Grau, Molly Starkovich, Mahshid S Azamian, Fan Xia, Sau Wai Cheung, Patricia Evans, Alex Henderson, Seema R Lalani, Daryl A Scott
Xp11.22 deletions encompassing CENPVL1, CENPVL2, MAGED1 and GSPT2 as a cause of syndromic X-linked intellectual disability. PloS one 12 (4) (2017)
Mir Reza Bekheirnia, Nasim Bekheirnia, Matthew N Bainbridge, Shen Gu, Zeynep Hande Coban Akdemir, Tomasz Gambin, Nicolette K Janzen, Shalini N Jhangiani, Donna M Muzny, Mini Michael, Eileen D Brewer, Ewa Elenberg, Arundhati S Kale, Alyssa A Riley, Sarah J Swartz, Daryl A Scott, Yaping Yang, Poyyapakkam R Srivaths, Scott E Wenderfer, Joann Norma Bodurtha, Carolyn D Applegate, Milen Velinov, Angela Myers, Lior Borovik, William J Craigen, Neil A Hanchard, Jill Anne Rosenfeld, Richard Alan Lewis, Edmond T Gonzales, Richard A Gibbs, John W Belmont, David R Roth, Christine Eng, Michael C Braun, James R Lupski, Dolores J Lamb
Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene. Genetics in medicine : official journal of the American College of Medical Genetics 19 (4) (2016)

Daryl A Scott.css-eqlu8i{font-size:small;padding-left:4px;} (Daryl Scott)

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Daryl A Scott (Daryl Scott)