Clinical care models in the era of next‐generation sequencing

Por Slavotinek, Anne
Publicado no Mol Genet Genomic Med (2016)

Molecular Insights into Development in Humans: Studies in Normal Development and Birth Defects

Por Slavotinek, Anne
Publicado no Eur J Hum Genet (2016)

Eye Development Genes and Known Syndromes

Por Slavotinek, Anne M.
Publicado em 2011

A much needed new journal in the field of Pediatric Genetics

Por Slavotinek, Anne M.
Publicado no J Pediatr Genet (2012)

The Family of Crumbs Genes and Human Disease

Por Slavotinek, Anne M.
Publicado no Mol Syndromol (2016)

Clinical utility gene card for: Bardet–Biedl syndrome

Por Slavotinek, Anne, Beales, Philip
Publicado em 2011

Haploinsufficiency and triploinsensitivity of the same 6p25.1p24.3 region in a family

Por Qi, Zhongxia, Jeng, Linda Jo Bone, Slavotinek, Anne, Yu, Jingwei
Publicado no BMC Med Genomics (2015)

Congenital Diaphragmatic Hernia and Microtia in a Newborn with Mycophenolate Mofetil (MMF) Exposure: Phenocopy for Fryns Syndrome or Broad Spectrum of Teratogenic Effects?

Por Parisi, Melissa A., Zayed, Hatem, Slavotinek, Anne M., Rutledge, Joe C.
Publicado em 2009

Absence of mutations in NR2E1 and SNX3 in five patients with MMEP (microcephaly, microphthalmia, ectrodactyly, and prognathism) and related phenotypes

Por Kumar, Ravinesh A, Everman, David B, Morgan, Chad T, Slavotinek, Anne, Schwartz, Charles E, Simpson, Elizabeth M
Publicado em 2007

Novel FGFR2 Deletion in Patient with Beare-Stevenson-like Syndrome

Por Slavotinek, Anne, Crawford, Howard, Golabi, Mahin, Tao, Cathy, Perry, Hazel, Oberoi, Sneha, Vargevik, Karin, Friez, Michael
Publicado em 2009

Pregnancy outcomes following exposure to onabotulinumtoxinA

Por Brin, Mitchell F., Kirby, Russell S., Slavotinek, Anne, Miller‐Messana, Mary Ann, Parker, Lori, Yushmanova, Irina, Yang, Huiying
Publicado no Pharmacoepidemiol Drug Saf (2015)

A maternally inherited chromosome 18q22.1 deletion in a male with late-presenting diaphragmatic hernia and microphthalmia – evaluation of DSEL as a candidate gene for the diaphragm...

Por Zayed, Hatem, Chao, Ryan, Moshrefi, Ali, LopezJimenez, Nelson, Delaney, Allen, Chen, Justin, Shaw, Gary M., Slavotinek, Anne M.
Publicado em 2010

Expanding the phenotypic spectrum of PORCN variants in two males with syndromic microphthalmia

Por Brady, Paul D, Van Esch, Hilde, Fieremans, Nathalie, Froyen, Guy, Slavotinek, Anne, Deprest, Jan, Devriendt, Koenraad, Vermeesch, Joris R
Publicado no Eur J Hum Genet (2015)

Novel FREM1 Mutations Expand the Phenotypic Spectrum Associated with Manitoba-Oculo-Tricho-Anal (MOTA) Syndrome and Bifid Nose Renal Agenesis Anorectal Malformations (BNAR) Syndrom...

Por Nathanson, Jared, Swarr, Daniel T., Singer, Amihood, Liu, Mochi, Chinn, Amy, Jones, Wendy, Hurst, Jane, Khalek, Nahla, Zackai, Elaine, Slavotinek, Anne
Publicado em 2013

Targeted 'Next-Generation' sequencing in anophthalmia and microphthalmia patients confirms SOX2, OTX2 and FOXE3 mutations

Por Lopez Jimenez, Nelson, Flannick, Jason, Yahyavi, Mani, Li, Jiang, Bardakjian, Tanya, Tonkin, Leath, Schneider, Adele, Sherr, Elliott H, Slavotinek, Anne M
Publicado em 2011

Examination of FGFRL1 as a candidate gene for diaphragmatic defects at chromosome 4p16.3 shows that Fgfrl1 null mice have reduced expression of Tpm3, sarcomere genes and Lrtm1 in t...

Por LopezJimenez, Nelson, Gerber, Simon D., Popovici, Vlad, Mirza, Sonia, Copren, Kirsten, Ta, Linda, Shaw, Gary M., Trueb, Beat, Slavotinek, Anne M.
Publicado em 2009

Pregnancy and Birth Outcomes among Women with Idiopathic Thrombocytopenic Purpura

Por Wyszynski, Diego F., Carman, Wendy J., Cantor, Alan B., Graham, John M., Kunz, Liza H., Slavotinek, Anne M., Kirby, Russell S., Seeger, John
Publicado no J Pregnancy (2016)

CRB2 Mutations Produce a Phenotype Resembling Congenital Nephrosis, Finnish Type, with Cerebral Ventriculomegaly and Raised Alpha-Fetoprotein

Por Slavotinek, Anne, Kaylor, Julie, Pierce, Heather, Cahr, Michelle, DeWard, Stephanie J., Schneidman-Duhovny, Dina, Alsadah, Adnan, Salem, Fadi, Schmajuk, Gabriela, Mehta, Lakshmi
Publicado no Am J Hum Genet (2015)

Novel mutations in PXDN cause microphthalmia and anterior segment dysgenesis

Por Choi, Alex, Lao, Richard, Ling-Fung Tang, Paul, Wan, Eunice, Mayer, Wasima, Bardakjian, Tanya, Shaw, Gary M, Kwok, Pui-yan, Schneider, Adele, Slavotinek, Anne
Publicado no Eur J Hum Genet (2015)

Brief Report: VAX1 mutation associated with microphthalmia, corpus callosum agenesis and orofacial clefting – the first description of a VAX1 phenotype in humans

Por Slavotinek, Anne M., Chao, Ryan, Vacik, Tomas, Yahyavi, Mani, Abouzeid, Hana, Bardakjian, Tanya, Schneider, Adele, Shaw, Gary, Sherr, Elliott H., Lemke, Greg, Youssef, Mohammed, Schorderet, Daniel F.
Publicado em 2011