Daryl A Scott

Daryl A Scott

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Daryl A Scott

Daryl A Scott

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Novel Missense Variants in ADAT3 as a Cause of Syndromic Intellectual Disability.

J Pediatr Genet 2019 Dec 9;8(4):244-251. Epub 2019 Jul 9.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States.

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http://dx.doi.org/10.1055/s-0039-1693151DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6824885PMC
December 2019

Co-occurring defect analysis: A platform for analyzing birth defect co-occurrence in registries.

Birth Defects Res 2019 Nov 16;111(18):1356-1364. Epub 2019 Jul 16.

Department of Epidemiology, Human Genetics and Environmental Sciences, UTHealth School of Public Health, Houston, Texas.

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http://dx.doi.org/10.1002/bdr2.1549DOI Listing
November 2019

Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency.

Genet Med 2019 Oct 3. Epub 2019 Oct 3.

INSERM U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, Paris, France.

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http://dx.doi.org/10.1038/s41436-019-0657-0DOI Listing
October 2019

Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1.

Authors:
Magdalena Koczkowska Tom Callens Yunjia Chen Alicia Gomes Alesha D Hicks Angela Sharp Eric Johns Kim Armfield Uhas Linlea Armstrong Katherine Armstrong Bosanko Dusica Babovic-Vuksanovic Laura Baker Donald G Basel Mario Bengala James T Bennett Chelsea Chambers Lola K Clarkson Maurizio Clementi Fanny M Cortés Mitch Cunningham M Daniela D'Agostino Martin B Delatycki Maria C Digilio Laura Dosa Silvia Esposito Stephanie Fox Mary-Louise Freckmann Christine Fauth Teresa Giugliano Sandra Giustini Allison Goetsch Yael Goldberg Robert S Greenwood Cristin Griffis Karen W Gripp Punita Gupta Eric Haan Rachel K Hachen Tamara L Haygarth Concepción Hernández-Chico Katelyn Hodge Robert J Hopkin Louanne Hudgins Sandra Janssens Kory Keller Geraldine Kelly-Mancuso Aaina Kochhar Bruce R Korf Andrea M Lewis Jan Liebelt Angie Lichty Robert H Listernick Michael J Lyons Isabelle Maystadt Mayra Martinez Ojeda Carey McDougall Lesley K McGregor Daniela Melis Nancy Mendelsohn Malgorzata J M Nowaczyk June Ortenberg Karin Panzer John G Pappas Mary Ella Pierpont Giulio Piluso Valentina Pinna Eniko K Pivnick Dinel A Pond Cynthia M Powell Caleb Rogers Noa Ruhrman Shahar S Lane Rutledge Veronica Saletti Sarah A Sandaradura Claudia Santoro Ulrich A Schatz Allison Schreiber Daryl A Scott Elizabeth A Sellars Ruth Sheffer Elizabeth Siqveland John M Slopis Rosemarie Smith Alberto Spalice David W Stockton Haley Streff Amy Theos Gail E Tomlinson Grace Tran Pamela L Trapane Eva Trevisson Nicole J Ullrich Jenneke Van den Ende Samantha A Schrier Vergano Stephanie E Wallace Michael F Wangler David D Weaver Kaleb H Yohay Elaine Zackai Jonathan Zonana Vickie Zurcher Kathleen B M Claes Marica Eoli Yolanda Martin Katharina Wimmer Alessandro De Luca Eric Legius Ludwine M Messiaen

Hum Mutat 2019 Oct 8. Epub 2019 Oct 8.

Department of Genetics, University of Alabama at Birmingham, Birmingham, Albama.

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http://dx.doi.org/10.1002/humu.23929DOI Listing
October 2019

Disruptive variants of associate with autism and interfere with neuronal development and synaptic transmission.

Sci Adv 2019 Sep 25;5(9):eaax2166. Epub 2019 Sep 25.

Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.

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http://dx.doi.org/10.1126/sciadv.aax2166DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6760934PMC
September 2019

Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.

Genet Med 2019 04 7;21(4):867-876. Epub 2018 Sep 7.

Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.

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http://dx.doi.org/10.1038/s41436-018-0269-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752285PMC
April 2019

Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.

Genet Med 2019 03;21(3):764-765

Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA.

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http://www.nature.com/articles/s41436-018-0326-8
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http://dx.doi.org/10.1038/s41436-018-0326-8DOI Listing
March 2019

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.

Authors:
Benjamin Cogné Sophie Ehresmann Eliane Beauregard-Lacroix Justine Rousseau Thomas Besnard Thomas Garcia Slavé Petrovski Shiri Avni Kirsty McWalter Patrick R Blackburn Stephan J Sanders Kévin Uguen Jacqueline Harris Julie S Cohen Moira Blyth Anna Lehman Jonathan Berg Mindy H Li Usha Kini Shelagh Joss Charlotte von der Lippe Christopher T Gordon Jennifer B Humberson Laurie Robak Daryl A Scott Vernon R Sutton Cara M Skraban Jennifer J Johnston Annapurna Poduri Magnus Nordenskjöld Vandana Shashi Erica H Gerkes Ernie M H F Bongers Christian Gilissen Yuri A Zarate Malin Kvarnung Kevin P Lally Peggy A Kulch Brina Daniels Andres Hernandez-Garcia Nicholas Stong Julie McGaughran Kyle Retterer Kristian Tveten Jennifer Sullivan Madeleine R Geisheker Asbjorg Stray-Pedersen Jennifer M Tarpinian Eric W Klee Julie C Sapp Jacob Zyskind Øystein L Holla Emma Bedoukian Francesca Filippini Anne Guimier Arnaud Picard Øyvind L Busk Jaya Punetha Rolph Pfundt Anna Lindstrand Ann Nordgren Fayth Kalb Megha Desai Ashley Harmon Ebanks Shalini N Jhangiani Tammie Dewan Zeynep H Coban Akdemir Aida Telegrafi Elaine H Zackai Amber Begtrup Xiaofei Song Annick Toutain Ingrid M Wentzensen Sylvie Odent Dominique Bonneau Xénia Latypova Wallid Deb Sylvia Redon Frédéric Bilan Marine Legendre Caitlin Troyer Kerri Whitlock Oana Caluseriu Marine I Murphree Pavel N Pichurin Katherine Agre Ralitza Gavrilova Tuula Rinne Meredith Park Catherine Shain Erin L Heinzen Rui Xiao Jeanne Amiel Stanislas Lyonnet Bertrand Isidor Leslie G Biesecker Dan Lowenstein Jennifer E Posey Anne-Sophie Denommé-Pichon Claude Férec Xiang-Jiao Yang Jill A Rosenfeld Brigitte Gilbert-Dussardier Séverine Audebert-Bellanger Richard Redon Holly A F Stessman Christoffer Nellaker Yaping Yang James R Lupski David B Goldstein Evan E Eichler Francois Bolduc Stéphane Bézieau Sébastien Küry Philippe M Campeau

Am J Hum Genet 2019 03 28;104(3):530-541. Epub 2019 Feb 28.

Centre Hospitalier Universitaire Sainte-Justine Research Centre, University of Montreal, Montreal, QC H3T 1C5, Canada; Department of Pediatrics, University of Montreal, Montreal, QC H3T1J4, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.01.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6407527PMC
March 2019

Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway.

Am J Hum Genet 2019 02 10;104(2):213-228. Epub 2019 Jan 10.

Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Houston, TX 77021, USA; Institute of Mother and Child, 01-211 Warsaw, Poland. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183046
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http://dx.doi.org/10.1016/j.ajhg.2018.12.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6369446PMC
February 2019

RERE deficiency leads to decreased expression of GATA4 and the development of ventricular septal defects.

Dis Model Mech 2018 08 28;11(9). Epub 2018 Aug 28.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA

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http://dx.doi.org/10.1242/dmm.031534DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6176990PMC
August 2018

SOX7 Is Required for Muscle Satellite Cell Development and Maintenance.

Stem Cell Reports 2017 10 21;9(4):1139-1151. Epub 2017 Sep 21.

Department of Cellular and Molecular Medicine, University of Ottawa, Ottawa, ON K1H 8M5, Canada. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S22136711173037
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http://dx.doi.org/10.1016/j.stemcr.2017.08.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5639291PMC
October 2017

SOX7 expression is critically required in FLK1-expressing cells for vasculogenesis and angiogenesis during mouse embryonic development.

Mech Dev 2017 08 31;146:31-41. Epub 2017 May 31.

Cancer Research UK Manchester Institute, The University of Manchester, Wilmslow road, M20 4BX, UK; Division of Developmental Biology and Medicine, The University of Manchester, Michael Smith Building, Oxford Road, Manchester M13 9PT, UK. Electronic address:

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http://dx.doi.org/10.1016/j.mod.2017.05.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5496588PMC
August 2017

Chromosome 5q33 deletions associated with congenital heart defects.

Am J Med Genet A 2016 12 2;170(12):3338-3342. Epub 2016 Sep 2.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.

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http://dx.doi.org/10.1002/ajmg.a.37957DOI Listing
December 2016

Expanding the phenotypic spectrum of Succinyl-CoA ligase deficiency through functional validation of a new SUCLG1 variant.

Mol Genet Metab 2016 09 25;119(1-2):68-74. Epub 2016 Jul 25.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2016.07.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5031536PMC
September 2016

Duplication of HEY2 in cardiac and neurologic development.

Am J Med Genet A 2015 Sep 1;167A(9):2145-9. Epub 2015 Apr 1.

Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX.

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http://dx.doi.org/10.1002/ajmg.a.37086DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4545384PMC
September 2015

1p36 deletion syndrome: an update.

Appl Clin Genet 2015 27;8:189-200. Epub 2015 Aug 27.

Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX, USA ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

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http://dx.doi.org/10.2147/TACG.S65698DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4555966PMC
September 2015

Stromal Fat4 acts non-autonomously with Dchs1/2 to restrict the nephron progenitor pool.

Development 2015 Aug 26;142(15):2564-73. Epub 2015 Jun 26.

Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada M5S 1A8 Lunenfeld-Tanenbaum Research Institute, Mt. Sinai Hospital, Toronto, Ontario, Canada M5G 1X5

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http://dx.doi.org/10.1242/dev.122648DOI Listing
August 2015

Identification of critical regions and candidate genes for cardiovascular malformations and cardiomyopathy associated with deletions of chromosome 1p36.

PLoS One 2014 15;9(1):e85600. Epub 2014 Jan 15.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America ; Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, Texas, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0085600PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3893250PMC
December 2014

Mouse model reveals the role of RERE in cerebellar foliation and the migration and maturation of Purkinje cells.

PLoS One 2014 23;9(1):e87518. Epub 2014 Jan 23.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America ; Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, Texas, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0087518PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3900724PMC
September 2014

Clinical geneticists' views of VACTERL/VATER association.

Am J Med Genet A 2012 Dec 19;158A(12):3087-100. Epub 2012 Nov 19.

Medical Genetics Branch, National Human Genome Research Institute, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1002/ajmg.a.35638DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3507421PMC
December 2012

Delineation of a less than 200 kb minimal deleted region for cardiac malformations on chromosome 7p22.

Am J Med Genet A 2011 Jul 10;155A(7):1729-34. Epub 2011 Jun 10.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.

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http://dx.doi.org/10.1002/ajmg.a.34041DOI Listing
July 2011

Delineation of a 1.65 Mb critical region for hemihyperplasia and digital anomalies on Xq25.

Am J Med Genet A 2010 Feb;152A(2):453-8

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.

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http://dx.doi.org/10.1002/ajmg.a.33227DOI Listing
February 2010

A 1q42 deletion involving DISC1, DISC2, and TSNAX in an autism spectrum disorder.

Am J Med Genet A 2009 Aug;149A(8):1758-62

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.

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http://dx.doi.org/10.1002/ajmg.a.32941DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2909829PMC
August 2009

Fine-Lubinsky syndrome: sibling pair suggests possible autosomal recessive inheritance.

Am J Med Genet A 2007 Nov;143A(21):2576-80

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.

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http://dx.doi.org/10.1002/ajmg.a.31688DOI Listing
November 2007

Genetics of congenital diaphragmatic hernia.

Authors:
Daryl A Scott

Semin Pediatr Surg 2007 May;16(2):88-93

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.

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http://dx.doi.org/10.1053/j.sempedsurg.2007.01.003DOI Listing
May 2007

Genome-wide oligonucleotide-based array comparative genome hybridization analysis of non-isolated congenital diaphragmatic hernia.

Hum Mol Genet 2007 Feb 8;16(4):424-30. Epub 2007 Jan 8.

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA.

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http://dx.doi.org/10.1093/hmg/ddl475DOI Listing
February 2007

Dusp6 (Mkp3) is a negative feedback regulator of FGF-stimulated ERK signaling during mouse development.

Development 2007 Jan;134(1):167-76

Department of Human Genetics, University of Utah, 15 N 2030 E RM 2100, Salt Lake City, UT 84112-5330, USA.

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http://dev.biologists.org/cgi/doi/10.1242/dev.02701
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http://dx.doi.org/10.1242/dev.02701DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2424197PMC
January 2007

Performance of cochlear implant recipients with GJB2-related deafness.

Am J Med Genet 2002 May;109(3):167-70

Molecular Otolaryngology Research Laboratories, Department of Otolaryngology-Head and Neck Surgery, University of Iowa, Iowa City, Iowa 52242, USA.

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http://dx.doi.org/10.1002/ajmg.10330DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3212411PMC
May 2002