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Author/Creator Scott, Daryl A

1. Clinical exome sequencing data reveal high diagnostic yields for congenital diaphragmatic hernia plus (CDH+) and new phenotypic expansions involving CDH. Issue 3 (18th January 2021)

Authors:
Scott, Tiana M; Campbell, Ian M; Hernandez-Garcia, Andres; Lalani, Seema R; Liu, Pengfei; Shaw, Chad A; Rosenfeld, Jill A; Scott, Daryl A
Journal:
Journal of medical genetics
Issue:
Volume 59:Issue 3(2022)
Page Start:
270
Record Type:
Journal Article
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2. Congenital heart defects and left ventricular non-compaction in males with loss-of-function variants in NONO. Issue 1 (22nd August 2016)

Authors:
Scott, Daryl A; Hernandez-Garcia, Andres; Azamian, Mahshid S; Jordan, Valerie K; Kim, Bum Jun; Starkovich, Molly; Zhang, Jinglan; Wong, Lee-Jun; Darilek, Sandra A; Breman, Amy M; Yang, Yaping; Lupski, James R; Jiwani, Amyn K; Das, Bibhuti; Lalani, Seema R; Iglesias, Alejandro D; Rosenfeld, Jill A...
Journal:
Journal of medical genetics
Issue:
Volume 54:Issue 1(2017)
Page Start:
47
Record Type:
Journal Article
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3. Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice. (4th February 2020)

Authors:
Beck, Tyler F; Veenma, Danielle; Shchelochkov, Oleg A; Yu, Zhiyin; Kim, Bum Jun; Zaveri, Hitisha P; van Bever, Yolande; Choi, Sunju; Douben, Hannie; Bertin, Terry K; Patel, Pragna I; Lee, Brendan; Tibboel, Dick; de Klein, Annelies; Stockton, David W; Justice, Monica J; Scott, Daryl A
Journal:
Human molecular genetics
Issue:
Volume 29:Number 6(2020)
Page Start:
1054
Record Type:
Journal Article
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4. Genomic alterations that contribute to the development of isolated and non-isolated congenital diaphragmatic hernia. Issue 5 (27th April 2011)

Authors:
Wat, Margaret J; Veenma, Danielle; Hogue, Jacob; Holder, Ashley M; Yu, Zhiyin; Wat, Jeanette J; Hanchard, Neil; Shchelochkov, Oleg A; Fernandes, Caraciolo J; Johnson, Anthony; Lally, Kevin P; Slavotinek, Anne; Danhaive, Olivier; Schaible, Thomas; Cheung, Sau Wai; Rauen, Katherine A; Tonk, Vijay S...
Journal:
Journal of medical genetics
Issue:
Volume 48:Issue 5(2011)
Page Start:
299
Record Type:
Journal Article
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5. NUBPL mitochondrial disease: new patients and review of the genetic and clinical spectrum. Issue 5 (9th June 2020)

Authors:
Kimonis, Virginia; al Dubaisi, Rehab; Maclean, Andrew E; Hall, Kathy; Weiss, Lan; Stover, Alexander E; Schwartz, Philip H; Berg, Bethany; Cheng, Cheng; Parikh, Sumit; Conner, Blair R; Wu, Sitao; Hasso, Anton N; Scott, Daryl A; Koenig, Mary Kay; Karam, Rachid; Tang, Sha; Smith, Moyra; Chao, Elizab...
Journal:
Journal of medical genetics
Issue:
Volume 58:Issue 5(2021)
Page Start:
314
Record Type:
Journal Article
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6. Recurrent microdeletions of 15q25.2 are associated with increased risk of congenital diaphragmatic hernia, cognitive deficits and possibly Diamond–Blackfan anaemia. Issue 11 (4th October 2010)

Authors:
Wat, Margaret J; Enciso, Victoria B; Wiszniewski, Wojciech; Resnick, Trevor; Bader, Patricia; Roeder, Elizabeth R; Freedenberg, Debra; Brown, Chester; Stankiewicz, Pawel; Cheung, Sau-Wai; Scott, Daryl A
Journal:
Journal of medical genetics
Issue:
Volume 47:Issue 11(2010)
Page Start:
777
Record Type:
Journal Article
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7. Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size. Issue 5 (12th November 2009)

Authors:
Shinawi, Marwan; Liu, Pengfei; Kang, Sung-Hae L; Shen, Joseph; Belmont, John W; Scott, Daryl A; Probst, Frank J; Craigen, William J; Graham, Brett H; Pursley, Amber; Clark, Gary; Lee, Jennifer; Proud, Monica; Stocco, Amber; Rodriguez, Diana L; Kozel, Beth A; Sparagana, Steven; Roeder, Elizabeth R...
Journal:
Journal of medical genetics
Issue:
Volume 47:Issue 5(2010)
Page Start:
332
Record Type:
Journal Article
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9. The role of FREM2 and FRAS1 in the development of congenital diaphragmatic hernia. (28th March 2018)

Authors:
Jordan, Valerie K; Beck, Tyler F; Hernandez-Garcia, Andres; Kundert, Peter N; Kim, Bum-Jun; Jhangiani, Shalini N; Gambin, Tomasz; Starkovich, Molly; Punetha, Jaya; Paine, Ingrid S; Posey, Jennifer E; Li, Alexander H; Muzny, Donna; Hsu, Chih-Wei; Lashua, Amber J; Sun, Xin; Fernandes, Caraciolo J; ...
Journal:
Human molecular genetics
Issue:
Volume 27:Number 12(2018:Jun. 15)
Page Start:
2064
Record Type:
Journal Article
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