Anophthalmia and microphthalmia

Por Verma, Amit S, FitzPatrick, David R
Publicado em 2007

Variant detection sensitivity and biases in whole genome and exome sequencing

Por Meynert, Alison M, Ansari, Morad, FitzPatrick, David R, Taylor, Martin S
Publicado em 2014

The RNA-binding landscape of RBM10 and its role in alternative splicing regulation in models of mouse early development

Por Rodor, Julie, FitzPatrick, David R., Eyras, Eduardo, Cáceres, Javier F.
Publicado no RNA Biol (2016)

CGG-Repeat Expansion in the DIP2B Gene Is Associated with the Fragile Site FRA12A on Chromosome 12q13.1

Por Winnepenninckx, Birgitta , Debacker, Kim , Ramsay, Jacqueline , Smeets, Dominique , Smits, Arie , FitzPatrick, David R. , Kooy, R. Frank 
Publicado em 2007

Diagnostically relevant facial gestalt information from ordinary photos

Por Ferry, Quentin, Steinberg, Julia, Webber, Caleb, FitzPatrick, David R, Ponting, Chris P, Zisserman, Andrew, Nellåker, Christoffer
Publicado em 2014

Bilateral Renal Agenesis/Hypoplasia/Dysplasia (BRAHD): Postmortem Analysis of 45 Cases with Breakpoint Mapping of Two De Novo Translocations

Por Harewood, Louise, Liu, Monica, Keeling, Jean, Howatson, Alan, Whiteford, Margo, Branney, Peter, Evans, Margaret, Fantes, Judy, FitzPatrick, David R.
Publicado em 2010

Returning genome sequences to research participants: Policy and practice

Por Wright, Caroline F., Middleton, Anna, Barrett, Jeffrey C., Firth, Helen V., FitzPatrick, David R., Hurles, Matthew E., Parker, Michael
Publicado no Wellcome Open Res (2017)

Warburg Micro syndrome is caused by RAB18 deficiency or dysregulation

Por Handley, Mark T., Carpanini, Sarah M., Mali, Girish R., Sidjanin, Duska J., Aligianis, Irene A., Jackson, Ian J., FitzPatrick, David R.
Publicado no Open Biol (2015)

A rare de novo nonsense mutation in OTX2 causes early onset retinal dystrophy and pituitary dysfunction

Por Henderson, Robert H., Williamson, Kathleen A., Kennedy, Joanna S., Webster, Andrew R., Holder, Graham E., Robson, Anthony G., FitzPatrick, David R., van Heyningen, Veronica, Moore, Anthony T.
Publicado em 2009

Clinical and mutation analysis of 51 probands with anophthalmia and/or severe microphthalmia from a single center

Por Gerth-Kahlert, Christina, Williamson, Kathleen, Ansari, Morad, Rainger, Jacqueline K, Hingst, Volker, Zimmermann, Theodor, Tech, Stefani, Guthoff, Rudolf F, van Heyningen, Veronica, FitzPatrick, David R
Publicado em 2013

Mutations in the 3β-Hydroxysterol Δ(24)-Reductase Gene Cause Desmosterolosis, an Autosomal Recessive Disorder of Cholesterol Biosynthesis

Por Waterham, Hans R., Koster, Janet, Romeijn, Gerrit Jan, Hennekam, Raoul C.M., Vreken, Peter, Andersson, Hans C., FitzPatrick, David R., Kelley, Richard. I., Wanders, Ronald J. A.
Publicado em 2001

Familial Recurrence of SOX2 Anophthalmia Syndrome: Phenotypically Normal Mother with Two Affected Daughters

Por Schneider, Adele, Bardakjian, Tanya M., Zhou, Jie, Hughes, Nkecha, Keep, Rosanne, Dorsainville, Darnelle, Kherani, Femida, Katowitz, James, Schimmenti, Lisa A., Hummel, Marybeth, FitzPatrick, David R, Young, Terri L.
Publicado em 2008

Novel de novo EEF1A2 missense mutations causing epilepsy and intellectual disability

Por Lam, Wayne W.K., Millichap, John J., Soares, Dinesh C., Chin, Richard, McLellan, Ailsa, FitzPatrick, David R., Elmslie, Frances, Lees, Melissa M., Schaefer, G. Bradley, Abbott, Catherine M.
Publicado no Mol Genet Genomic Med (2016)

Esrrg functions in early branch generation of the ureteric bud and is essential for normal development of the renal papilla

Por Berry, Rachel, Harewood, Louise, Pei, Liming, Fisher, Malcolm, Brownstein, David, Ross, Allyson, Alaynick, William A., Moss, Julie, Hastie, Nicholas D., Hohenstein, Peter, Davies, Jamie A., Evans, Ronald M., FitzPatrick, David R.
Publicado em 2011

Human-specific gain of function in a developmental enhancer

Por Prabhakar, Shyam, Visel, Axel, Akiyama, Jennifer A., Shoukry, Malak, Lewis, Keith D., Holt, Amy, Plajzer-Frick, Ingrid, Morrison, Harris, FitzPatrick, David R., Afzal, Veena, Pennacchio, Len A., Rubin, Edward M., Noonan, James P.
Publicado em 2008

A Trans-Acting Protein Effect Causes Severe Eye Malformation in the Mp Mouse

Por Rainger, Joe, Keighren, Margaret, Keene, Douglas R., Charbonneau, Noe L., Rainger, Jacqueline K., Fisher, Malcolm, Mella, Sebastien, Huang, Jeffrey T-J., Rose, Lorraine, van't Hof, Rob, Sakai, Lynne Y., Jackson, Ian J., FitzPatrick, David R.
Publicado em 2013

Clinical utility gene card for: Cornelia de Lange syndrome

Por Ramos, Feliciano J, Puisac, Beatriz, Baquero-Montoya, Carolina, Gil-Rodríguez, Ma Concepción, Bueno, Inés, Deardorff, Matthew A, Hennekam, Raoul C, Kaiser, Frank J, Krantz, Ian D, Musio, Antonio, Selicorni, Angelo, FitzPatrick, David R, Pié, Juan
Publicado no Eur J Hum Genet (2015)

FRA2A Is a CGG Repeat Expansion Associated with Silencing of AFF3

Por Metsu, Sofie, Rooms, Liesbeth, Rainger, Jacqueline, Taylor, Martin S., Bengani, Hemant, Wilson, David I., Chilamakuri, Chandra Sekhar Reddy, Morrison, Harris, Vandeweyer, Geert, Reyniers, Edwin, Douglas, Evelyn, Thompson, Geoffrey, Haan, Eric, Gecz, Jozef, FitzPatrick, David R., Kooy, R. Frank
Publicado em 2014

Disruption of SATB2 or its long-range cis-regulation by SOX9 causes a syndromic form of Pierre Robin sequence

Por Rainger, Jacqueline K., Bhatia, Shipra, Bengani, Hemant, Gautier, Philippe, Rainger, Joe, Pearson, Matt, Ansari, Morad, Crow, Jayne, Mehendale, Felicity, Palinkasova, Bozena, Dixon, Michael J., Thompson, Pamela J., Matarin, Mar, Sisodiya, Sanjay M., Kleinjan, Dirk A., FitzPatrick, David R.
Publicado em 2014

De novo, heterozygous, loss‐of‐function mutations in SYNGAP1 cause a syndromic form of intellectual disability

Por Parker, Michael J., Fryer, Alan E., Shears, Deborah J., Lachlan, Katherine L., McKee, Shane A., Magee, Alex C., Mohammed, Shehla, Vasudevan, Pradeep C., Park, Soo‐Mi, Benoit, Valérie, Lederer, Damien, Maystadt, Isabelle, study, DDD, FitzPatrick, David R.
Publicado no Am J Med Genet A (2015)