Works matching AU Scott, Daryl A

Results: 65

Cognitive conceit: A review of `The Bell Curve'.

Published in:

1994

By:

Scott, Daryl Michael

Publication type:

Book Review

Underlying genetic etiologies of congenital diaphragmatic hernia.

Published in:

Prenatal Diagnosis, 2022, v. 42, n. 3, p. 373, doi. 10.1002/pd.6099

By:

Scott, Daryl A.;
Gofin, Yoel;
Berry, Aliska M.;
Adams, April D.

Publication type:

Article

Phenotypic expansion in KIF1A‐related dominant disorders: A description of novel variants and review of published cases.

Published in:

Human Mutation, 2020, v. 41, n. 12, p. 2094, doi. 10.1002/humu.24118

By:

Montenegro‐Garreaud, Ximena;
Hansen, Adam W.;
Khayat, Michael M.;
Chander, Varuna;
Grochowski, Christopher M.;
Jiang, Yunyun;
Li, He;
Mitani, Tadahiro;
Kessler, Elena;
Jayaseelan, Joy;
Shen, Hua;
Gezdirici, Alper;
Pehlivan, Davut;
Meng, Qingchang;
Rosenfeld, Jill A.;
Jhangiani, Shalini N.;
Madan‐Khetarpal, Suneeta;
Scott, Daryl A.;
Abarca‐Barriga, Hugo;
Trubnykova, Milana

Publication type:

Article

Reconstructing Democracy: Grassroots Black Politics in the Deep South after the Civil War.

Published in:

2018

By:

Scott, Daryl

Publication type:

Book Review

A Comprehensive Assessment of Co-occurring Birth Defects among Infants with Non-Syndromic Anophthalmia or Microphthalmia.

Published in:

Ophthalmic Epidemiology, 2021, v. 28, n. 5, p. 428, doi. 10.1080/09286586.2020.1862244

By:

Schraw, Jeremy M.;
Benjamin, Renata H.;
Scott, Daryl A.;
Brooks, Brian P.;
Hufnagel, Robert B.;
McLean, Scott D.;
Northrup, Hope;
Langlois, Peter H.;
Canfield, Mark A.;
Scheuerle, Angela E.;
Schaaf, Christian P.;
Ray, Joseph W.;
Chen, Han;
Swartz, Michael D.;
Mitchell, Laura E.;
Agopian, A.J.;
Lupo, Philip J.

Publication type:

Article

1p36 deletion syndrome: an update.

Published in:

Application of Clinical Genetics, 2015, v. 8, p. 189, doi. 10.2147/TACG.S65698

By:

Jordan, Valerie K.;
Zaveri, Hitisha P.;
Scott, Daryl A.

Publication type:

Article

The frequency and efficacy of genetic testing in individuals with scimitar syndrome.

Published in:

2022

By:

Fick, Tyler A;
Scott, Daryl A;
Lupo, Philip J;
Weigand, Justin;
Morris, Shaine A

Publication type:

journal article

Refinement of the 12q14 microdeletion syndrome: primordial dwarfism and developmental delay with or without osteopoikilosis.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 9, p. 1141, doi. 10.1038/ejhg.2009.27

By:

Mari, Francesca;
Hermanns, Pia;
Giovannucci-Uzielli, Maria L.;
Galluzzi, Fiorella;
Scott, Daryl;
Lee, Brendan;
Renieri, Alessandra;
Unger, Sheila;
Zabel, Bernhard;
Superti-Furga, Andrea

Publication type:

Article

The Pendred syndrome gene encodes a chloride-iodide transport protein.

Published in:

Nature Genetics, 1999, v. 21, n. 4, p. 440, doi. 10.1038/7783

By:

Scott, Daryl A.;
Wang, Rong;
Kreman, Trisha M;
Sheffield, Val C.;
Karniski, Lawrence P

Publication type:

Article

Mouse Model Reveals the Role of RERE in Cerebellar Foliation and the Migration and Maturation of Purkinje Cells.

Published in:

PLoS ONE, 2014, v. 9, n. 1, p. 1, doi. 10.1371/journal.pone.0087518

By:

Kim, Bum Jun;
Scott, Daryl A.

Publication type:

Article

Identification of Critical Regions and Candidate Genes for Cardiovascular Malformations and Cardiomyopathy Associated with Deletions of Chromosome 1p36.

Published in:

PLoS ONE, 2014, v. 9, n. 1, p. 1, doi. 10.1371/journal.pone.0085600

By:

Zaveri, Hitisha P.;
Beck, Tyler F.;
Hernández-García, Andrés;
Shelly, Katharine E.;
Montgomery, Tara;
van Haeringen, Arie;
Anderlid, Britt-Marie;
Patel, Chirag;
Goel, Himanshu;
Houge, Gunnar;
Morrow, Bernice E.;
Cheung, Sau Wai;
Lalani, Seema R.;
Scott, Daryl A.

Publication type:

Article

Novel Frem1-Related Mouse Phenotypes and Evidence of Genetic Interactions with Gata4 and Slit3.

Published in:

PLoS ONE, 2013, v. 8, n. 3, p. 1, doi. 10.1371/journal.pone.0058830

By:

Beck, Tyler F.;
Shchelochkov, Oleg A.;
Yu, Zhiyin;
Kim, Bum Jun;
Hernández-García, Andrés;
Zaveri, Hitisha P.;
Bishop, Colin;
Overbeek, Paul A.;
Stockton, David W.;
Justice, Monica J.;
Scott, Daryl A.

Publication type:

Article

An Allelic Series of Mice Reveals a Role for RERE in the Development of Multiple Organs Affected in Chromosome 1p36 Deletions.

Published in:

PLoS ONE, 2013, v. 8, n. 2, p. 1, doi. 10.1371/journal.pone.0057460

By:

Kim, Bum Jun;
Zaveri, Hitisha P.;
Shchelochkov, Oleg A.;
Yu, Zhiyin;
Hernández-García, Andrés;
Seymour, Michelle L.;
Oghalai, John S.;
Pereira, Fred A.;
Stockton, David W.;
Justice, Monica J.;
Lee, Brendan;
Scott, Daryl A.

Publication type:

Article

Birth Defect Co-Occurrence Patterns Among Infants With Cleft Lip and/or Palate.

Published in:

Cleft Palate Craniofacial Journal, 2022, v. 59, n. 4, p. 417, doi. 10.1177/10556656211010060

By:

Sanchez, Maria Luisa Navarro;
Benjamin, Renata H.;
Mitchell, Laura E.;
Langlois, Peter H.;
Canfield, Mark A.;
Swartz, Michael D.;
Scheuerle, Angela E.;
Scott, Daryl A.;
Northrup, Hope;
Schaaf, Christian P.;
Ray, Joseph W.;
McLean, Scott D.;
Chen, Han;
Lupo, Philip J.;
Agopian, A.J.

Publication type:

Article

SOX7 deficiency causes ventricular septal defects through its effects on endocardial-to-mesenchymal transition and the expression of Wnt4 and Bmp2.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 13, p. 2152, doi. 10.1093/hmg/ddad050

By:

Hernández-García, Andrés;
Pendleton, Katherine E;
Kim, Sangbae;
Li, Yumei;
Kim, Bum J;
Zaveri, Hitisha P;
Jordan, Valerie K;
Berry, Aliska M;
Ljungberg, M Cecilia;
Chen, Rui;
Lanz, Rainer B;
Scott, Daryl A

Publication type:

Article

RERE deficiency contributes to the development of orofacial clefts in humans and mice.

Published in:

Human Molecular Genetics, 2021, v. 30, n. 7, p. 595, doi. 10.1093/hmg/ddab084

By:

Kim, Bum Jun;
Zaveri, Hitisha P;
Kundert, Peter N;
Jordan, Valerie K;
Scott, Tiana M;
Carmichael, Jenny;
Scott, Daryl A

Publication type:

Article

MCTP2 is a dosage-sensitive gene required for cardiac outflow tract development.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 21, p. 4339, doi. 10.1093/hmg/ddt283

By:

Lalani, Seema R.;
Ware, Stephanie M.;
Wang, Xueqing;
Zapata, Gladys;
Tian, Qi;
Franco, Luis M.;
Jiang, Zhengxin;
Bucasas, Kristine;
Scott, Daryl A.;
Campeau, Philippe M.;
Hanchard, Neil;
Umaña, Luis;
Cast, Ashley;
Patel, Ankita;
Cheung, Sau W.;
McBride, Kim L.;
Bray, Molly;
Craig Chinault, A.;
Boggs, Barbara A.;
Huang, Miao

Publication type:

Article

Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 5, p. 1026, doi. 10.1093/hmg/dds507

By:

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.

Publication type:

Article

Integrative analysis of transcriptome dynamics during human craniofacial development identifies candidate disease genes.

Published in:

Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-40363-1

By:

Yankee, Tara N.;
Oh, Sungryong;
Winchester, Emma Wentworth;
Wilderman, Andrea;
Robinson, Kelsey;
Gordon, Tia;
Rosenfeld, Jill A.;
VanOudenhove, Jennifer;
Scott, Daryl A.;
Leslie, Elizabeth J.;
Cotney, Justin

Publication type:

Article

1p36 deletion syndrome: an update.

Published in:

Therapeutics & Clinical Risk Management, 2015, v. 11, p. 189, doi. 10.2147/TACG.S65698

By:

Jordan, Valerie K.;
Zaveri, Hitisha P.;
Scott, Daryl A.

Publication type:

Article

Telehealth Is Effective in the Evaluation of Individuals With Undiagnosed Rare Disorders: An Undiagnosed Diseases Network Study.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 4, p. 1, doi. 10.1002/ajmg.a.63956

By:

Tan, Queenie K.‐G.;
McConkie‐Rosell, Allyn;
Mahoney, Rachel;
Spillmann, Rebecca C.;
Schoch, Kelly;
Chanprasert, Sirisak;
Acosta, Maria T.;
Toro, Camilo;
Rosenfeld, Jill A.;
Orengo, James P.;
Scott, Daryl A.;
Granadillo, Jorge L.;
Sisco, Kathleen;
Wegner, Daniel J.;
Tekin, Mustafa;
Bivona, Stephanie;
Peart, LéShon;
Rodan, Lance;
Bonner, Devon;
Wheeler, Matthew T.

Publication type:

Article

MED12 Loss‐of‐Function Variants as a Cause of Congenital Diaphragmatic Hernia in Females With Hardikar Syndrome and Nonspecific Intellectual Disability.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 1, p. 1, doi. 10.1002/ajmg.a.63868

By:

Kao, Eric C.;
Mizerik, Elizabeth A.;
Bacino, Carlos A.;
Dai, Hongzheng;
Vossaert, Liesbeth;
Scott, Daryl A.

Publication type:

Article

Recessive loss‐of‐function variants in DPH1 identified as the molecular cause in a sibling pair previously diagnosed with Fine–Lubinsky syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 1, p. 1, doi. 10.1002/ajmg.a.63845

By:

Waskow, Emily R.;
Emrick, Lisa T.;
Rosenfeld, Jill A.;
Ketkar, Shamika;
Burrage, Lindsay C.;
Scott, Daryl A.

Publication type:

Article

Early initiation of B‐vitamin supplementation may reduce symptoms and explain intrafamilial variability: Insights from two sibling pairs from the TANGO2 natural history study.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 9, p. 2433, doi. 10.1002/ajmg.a.63331

By:

Miyake, Christina Y.;
Ehsan, Saad A.;
Zhang, Lilei;
Mackenzie, Samuel J.;
Azamian, Mahshid S.;
Scott, Daryl A.;
Hernandez‐Garcia, Andres;
Lalani, Seema R.

Publication type:

Article

Patterns of co‐occurring birth defects in children with anotia and microtia.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 3, p. 805, doi. 10.1002/ajmg.a.63081

By:

Schraw, Jeremy M.;
Benjamin, Renata H.;
Shumate, Charles J.;
Canfield, Mark A.;
Scott, Daryl A.;
McLean, Scott D.;
Northrup, Hope;
Scheuerle, Angela E.;
Schaaf, Christian P.;
Ray, Joseph W.;
Chen, Han;
Agopian, A. J.;
Lupo, Philip J.

Publication type:

Article

Evidence for an association between Coffin‐Siris syndrome and congenital diaphragmatic hernia.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 9, p. 2718, doi. 10.1002/ajmg.a.62889

By:

Gofin, Yoel;
Zhao, Xiaonan;
Gerard, Amanda;
Scaglia, Fernando;
Wangler, Michael F.;
Schrier Vergano, Samantha A.;
Scott, Daryl A.

Publication type:

Article

A novel, de novo intronic variant in POGZ causes White–Sutton syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 7, p. 2198, doi. 10.1002/ajmg.a.62747

By:

Merriweather, Ashanta;
Murdock, David R.;
Rosenfeld, Jill A.;
Dai, Hongzheng;
Ketkar, Shamika;
Emrick, Lisa;
Nicholas, Sarah;
Lewis, Richard A.;
Bacino, Carlos A.;
Scott, Daryl A.;
Lee, Brendan;
Sutton, Vernon Reid;
Potocki, Lorraine;
Burrage, Lindsay C.

Publication type:

Article

Patterns of congenital anomalies among individuals with trisomy 13 in Texas.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 6, p. 1787, doi. 10.1002/ajmg.a.62175

By:

Diaz, Diego;
Benjamin, Renata H.;
Navarro Sanchez, Maria Luisa;
Mitchell, Laura E.;
Langlois, Peter H.;
Canfield, Mark A.;
Chen, Han;
Scheuerle, Angela E.;
Schaaf, Christian P.;
Scott, Daryl A.;
Northrup, Hope;
Ray, Joseph W.;
McLean, Scott D.;
Swartz, Michael D.;
Ludorf, Katherine L.;
Lupo, Philip J.;
Agopian, A. J.

Publication type:

Article

Evidence that FGFRL1 contributes to congenital diaphragmatic hernia development in humans.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 836, doi. 10.1002/ajmg.a.62066

By:

Gofin, Yoel;
Mackay, Laura Palmer;
Machol, Keren;
Keswani, Sundeep;
Potocki, Lorraine;
Di Gregorio, Eleonora;
Naretto, Valeria Giorgia;
Brusco, Alfredo;
Hernandez‐Garcia, Andres;
Scott, Daryl A.

Publication type:

Article

Congenital diaphragmatic hernia as a prominent feature of a SPECC1L‐related syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 12, p. 2919, doi. 10.1002/ajmg.a.61878

By:

Wild, K. Taylor;
Gordon, Tia;
Bhoj, Elizabeth J.;
Du, Haowei;
Jhangiani, Shalini N.;
Posey, Jennifer E.;
Lupski, James R.;
Scott, Daryl A.;
Zackai, Elaine H.

Publication type:

Article

Birth defects that co‐occur with non‐syndromic gastroschisis and omphalocele.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2581, doi. 10.1002/ajmg.a.61830

By:

Oluwafemi, Omobola O.;
Benjamin, Renata H.;
Navarro Sanchez, Maria Luisa;
Scheuerle, Angela E.;
Schaaf, Christian P.;
Mitchell, Laura E.;
Langlois, Peter H.;
Canfield, Mark A.;
Swartz, Michael D.;
Scott, Daryl A.;
Northrup, Hope;
Ray, Joseph W.;
McLean, Scott D.;
Ludorf, Katherine L.;
Chen, Han;
Lupo, Philip J.;
Agopian, A.J.

Publication type:

Article

Recessive ACO2 variants as a cause of isolated ophthalmologic phenotypes.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 8, p. 1960, doi. 10.1002/ajmg.a.61634

By:

Gibson, Shelley;
Azamian, Mahshid S.;
Lalani, Seema R.;
Yen, Kimberly G.;
Sutton, V. Reid;
Scott, Daryl A.

Publication type:

Article

Multiple mitochondrial dysfunctions syndrome 1: An unusual cause of developmental pulmonary hypertension.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 4, p. 755, doi. 10.1002/ajmg.a.61491

By:

Birjiniuk, Alona;
Glinton, Kevin E.;
Villafranco, Natalie;
Boyer, Suzanne;
Laufman, Jason;
Mizerik, Elizabeth;
Scott, Daryl;
Elsea, Sarah H.;
Galambos, Csaba;
Varghese, Nidhy P.;
Scaglia, Fernando

Publication type:

Article

Further delineation of the phenotypic spectrum associated with hemizygous loss‐of‐function variants in NONO.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 4, p. 652, doi. 10.1002/ajmg.a.61466

By:

Sewani, Maham;
Nugent, Kimberly;
Blackburn, Patrick R.;
Tarnowski, Jessica M.;
Hernandez‐Garcia, Andres;
Amiel, Jeanne;
Whalen, Sandra;
Keren, Boris;
Courtin, Thomas;
Rosenfeld, Jill A.;
Yang, Yaping;
Patterson, Marc C.;
Pichurin, Pavel;
McLean, Scott D.;
Scott, Daryl A.

Publication type:

Article

Loss of CLTRN function produces a neuropsychiatric disorder and a biochemical phenotype that mimics Hartnup disease.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 12, p. 2459, doi. 10.1002/ajmg.a.61357

By:

Pillai, Nishitha R.;
Yubero, Delia;
Shayota, Brian J.;
Oyarzábal, Alfonso;
Ghosh, Rajarshi;
Sun, Qin;
Azamian, Mahshid S.;
Arjona, Cesar;
Brandi, Núria;
Palau, Francesc;
Lalani, Seema R.;
Artuch, Rafael;
García‐Cazorla, Angeles;
Scott, Daryl A.

Publication type:

Article

Review of the phenotypic spectrum associated with haploinsufficiency of MYRF.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 7, p. 1376, doi. 10.1002/ajmg.a.61182

By:

Rossetti, Linda Z.;
Glinton, Kevin;
Yuan, Bo;
Liu, Pengfei;
Pillai, Nishitha;
Mizerik, Elizabeth;
Magoulas, Pilar;
Rosenfeld, Jill A.;
Karaviti, Lefkothea;
Sutton, Vernon R.;
Lalani, Seema R.;
Scott, Daryl A.

Publication type:

Article

Schaaf‐Yang syndrome overview: Report of 78 individuals.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2564, doi. 10.1002/ajmg.a.40650

By:

McCarthy, John;
Lupo, Philip J.;
Kovar, Erin;
Rech, Megan;
Bostwick, Bret;
Scott, Daryl;
Kraft, Katerina;
Roscioli, Tony;
Charrow, Joel;
Schrier Vergano, Samantha A.;
Lose, Edward;
Smiegel, Robert;
Lacassie, Yves;
Schaaf, Christian P.

Publication type:

Article

Chromosome 5q33 Deletions Associated with Congenital Heart Defects.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3338, doi. 10.1002/ajmg.a.37957

By:

Starkovich, Molly;
Lalani, Seema R.;
Mercer, Catherine L.;
Scott, Daryl A.

Publication type:

Article

Duplication of HEY2 in cardiac and neurologic development.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 9, p. 2145, doi. 10.1002/ajmg.a.37086

By:

Jordan, Valerie K.;
Rosenfeld, Jill A.;
Lalani, Seema R.;
Scott, Daryl A.

Publication type:

Article

FBN1 contributing to familial congenital diaphragmatic hernia.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 4, p. 831, doi. 10.1002/ajmg.a.36960

By:

Beck, Tyler F.;
Campeau, Philippe M.;
Jhangiani, Shalini N.;
Gambin, Tomasz;
Li, Alexander H.;
Abo‐Zahrah, Reem;
Jordan, Valerie K.;
Hernandez‐Garcia, Andres;
Wiszniewski, Wojciech K.;
Muzny, Donna;
Gibbs, Richard A.;
Boerwinkle, Eric;
Lupski, James R.;
Lee, Brendan;
Reardon, Willie;
Scott, Daryl A.

Publication type:

Article

Clinical geneticists' views of VACTERL/VATER association.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 12, p. 3087, doi. 10.1002/ajmg.a.35638

By:

Solomon, Benjamin D.;
Bear, Kelly A.;
Kimonis, Virginia;
de Klein, Annelies;
Scott, Daryl A.;
Shaw-Smith, Charles;
Tibboel, Dick;
Reutter, Heiko;
Giampietro, Philip F.

Publication type:

Article

Contribution of LPP copy number and sequence changes to esophageal atresia, tracheoesophageal fistula, and VACTERL association.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 7, p. 1785, doi. 10.1002/ajmg.a.35391

By:

Hernández-García, Andrés;
Brosens, Erwin;
Zaveri, Hitisha P.;
de Jong, Elisabeth M.;
Yu, Zhiyin;
Namwanje, Maria;
Mayle, Allison;
Fernandes, Caraciolo J.;
Lee, Brendan;
Blazo, Maria;
Lalani, Seema R.;
Tibboel, Dick;
de Klein, Annelies;
Scott, Daryl A.

Publication type:

Article

A resource of lipidomics and metabolomics data from individuals with undiagnosed diseases.

Published in:

Scientific Data, 2021, v. 8, n. 1, p. 1, doi. 10.1038/s41597-021-00894-y

By:

Kyle, Jennifer E.;
Stratton, Kelly G.;
Zink, Erika M.;
Kim, Young-Mo;
Bloodsworth, Kent J.;
Monroe, Matthew E.;
Undiagnosed Diseases Network;
Bacino, Carlos A.;
Hanchard, Neil A.;
Lewis, Richard A.;
Rosenfeld, Jill A.;
Scott, Daryl A.;
Tran, Alyssa A.;
Ward, Patricia A.;
Burrage, Lindsay C.;
Clark, Gary D.;
Alejandro, Mercedes E.;
Posey, Jennifer E.;
Wangler, Michael F.;
Lee, Brendan H.

Publication type:

Article

Functional differences of the PDS gene product are associated with phenotypic variation in patients with Pendred syndrome and non-syndromic hearing loss (DFNB4).

Published in:

Human Molecular Genetics, 2000, v. 9, n. 11, p. 1709, doi. 10.1093/hmg/9.11.1709

By:

Scott, Daryl A.

Publication type:

Article

Two frequent missense mutations in Pendred syndrome.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 7, p. 1099, doi. 10.1093/hmg/7.7.1099

By:

Van Hauwe, Peter;
Everett, Lorraine A.;
Coucke, Paul;
Scott, Daryl A.;
Kraft, Michelle L.;
Ris‐Stalpers, Carrie;
Bolder, Cuny;
Otten, Barto;
de Vijlder, Jan J.M.;
Dietrich, Nicole L.;
Ramesh, Arabandi;
Srisailapathy, Srikumari C. R.;
Parving, Agnete;
Cremers, Cor W. R. J.;
Willems, Patrick J.;
Smith, Richard J. H.;
Green, Eric D.;
Van Camp, Guy

Publication type:

Article

Localization of the Usher Syndrome Type ID Gene (Ush1D) to Chromosome 10.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 10, p. 1689, doi. 10.1093/hmg/5.10.1689

By:

Wayne, Sigrid;
Der Kaloustian, Vazken M.;
Schloss, Melvin;
Polomeno, Robert;
Scott, Daryl A.;
Hejtmancik, J. Fielding;
Sheffield, Val C.;
Smith, Richard J. H.

Publication type:

Article

Xp11.22 deletions encompassing CENPVL1, CENPVL2, MAGED1 and GSPT2 as a cause of syndromic X-linked intellectual disability.

Published in:

PLoS ONE, 2017, v. 12, n. 4, p. 1, doi. 10.1371/journal.pone.0175962

By:

Grau, Christina;
Starkovich, Molly;
Azamian, Mahshid S.;
Xia, Fan;
Cheung, Sau Wai;
Evans, Patricia;
Henderson, Alex;
Lalani, Seema R.;
Scott, Daryl A.

Publication type:

Article

Sox7‐positive endothelial progenitors establish coronary arteries and govern ventricular compaction.

Published in:

EMBO Reports, 2023, v. 24, n. 10, p. 1, doi. 10.15252/embr.202255043

By:

Chiang, Ivy KN;
Humphrey, David;
Mills, Richard J;
Kaltzis, Peter;
Pachauri, Shikha;
Graus, Matthew;
Saha, Diptarka;
Wu, Zhijian;
Young, Paul;
Sim, Choon Boon;
Davidson, Tara;
Hernandez‐Garcia, Andres;
Shaw, Chad A;
Renwick, Alexander;
Scott, Daryl A;
Porrello, Enzo R;
Wong, Emily S;
Hudson, James E;
Red‐Horse, Kristy;
del Monte‐Nieto, Gonzalo

Publication type:

Article

Mouse model reveals the role of SOX7 in the development of congenital diaphragmatic hernia associated with recurrent deletions of 8p23.1.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 18, p. 4115, doi. 10.1093/hmg/dds241

By:

Wat, Margaret J.;
Beck, Tyler F.;
Hernández-García, Andrés;
Yu, Zhiyin;
Veenma, Danielle;
Garcia, Monica;
Holder, Ashley M.;
Wat, Jeanette J.;
Chen, Yuqing;
Mohila, Carrie A.;
Lally, Kevin P.;
Dickinson, Mary;
Tibboel, Dick;
de Klein, Annelies;
Lee, Brendan;
Scott, Daryl A.

Publication type:

Article

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

Published in:

Human Molecular Genetics, 2007, v. 16, n. 4, p. 424, doi. 10.1093/hmg/ddl475

By:

Scott, Daryl A.;
Klaassens, Merel;
Holder, Ashley M.;
Lally, Kevin P.;
Fernandes, Caraciolo J.;
Galjaard, Robert-Jan;
Tibboel, Dick;
de Klein, Annelies;
Lee, Brendan

Publication type:

Article