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Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 9, p. 2750, doi. 10.1002/ajmg.a.62772
By:
- O'Grady, Lauren;
- Schrier Vergano, Samantha A.;
- Hoffman, Trevor L.;
- Sarco, Dean;
- Cherny, Sara;
- Bryant, Emily;
- Schultz‐Rogers, Laura;
- Chung, Wendy K.;
- Sacharow, Stephanie;
- Immken, Ladonna L.;
- Holder, Susan;
- Blackwell, Rebecca R.;
- Buchanan, Catherine;
- Yusupov, Roman;
- Lecoquierre, François;
- Guerrot, Anne‐Marie;
- Rodan, Lance;
- de Vries, Bert B. A.;
- Kamsteeg, Erik Jan;
- Santos Simarro, Fernando
Publication type:
Article
Clinical Comparison of Overlapping Deletions of 19p13.3.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 5, p. 1110, doi. 10.1002/ajmg.a.35923
By:
- Risheg, Hiba;
- Pasion, Romela;
- Sacharow, Stephanie;
- Proud, Virginia;
- Immken, LaDonna;
- Schwartz, Stuart;
- Tepperberg, Jim H.;
- Papenhausen, Peter;
- Tan, Tiong Y.;
- Andrieux, Joris;
- Plessis, Ghislaine;
- Amor, David J.;
- Keitges, Elisabeth A.
Publication type:
Article
Three cases of isolated terminal deletion of chromosome 8p without heart defects presenting with a mild phenotype.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 4, p. 822, doi. 10.1002/ajmg.a.35699
By:
- Burnside, Rachel D.;
- Pappas, John G.;
- Sacharow, Stephanie;
- Applegate, Carolyn;
- Hamosh, Ada;
- Gadi, Inder K.;
- Jaswaney, Vikram;
- Keitges, Elisabeth;
- Phillips, Karen K.;
- Potluri, Venketaswara R.;
- Risheg, Hiba;
- Smith, Janice L.;
- Tepperberg, Jim H.;
- Schwartz, Stuart;
- Papenhausen, Peter
Publication type:
Article
Familial 16q24.3 microdeletion involving ANKRD11 causes a KBG-like syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 3, p. 547, doi. 10.1002/ajmg.a.34436
By:
- Sacharow, Stephanie;
- Li, Deling;
- Fan, Yao Shan;
- Tekin, Mustafa
Publication type:
Article
Multiple DICER1‐related tumors in a child with a large interstitial 14q32 deletion.
Published in:
Genes, Chromosomes & Cancer, 2018, v. 57, n. 5, p. 223, doi. 10.1002/gcc.22523
By:
- de Kock, Leanne;
- Geoffrion, Dominique;
- Rivera, Barbara;
- Wagener, Rabea;
- Sabbaghian, Nelly;
- Bens, Susanne;
- Ellezam, Benjamin;
- Bouron‐Dal Soglio, Dorothée;
- Ordóñez, Jessica;
- Sacharow, Stephanie;
- Polo Nieto, Jose Fernando;
- Guillerman, R. Paul;
- Vujanic, Gordan M.;
- Priest, John R.;
- Siebert, Reiner;
- Foulkes, William D.
Publication type:
Article
A de novo 1.5 Mb microdeletion on chromosome 14q23.2-23.3 in a patient with autism and spherocytosis.
Published in:
Autism Research: Official Journal of the International Society for Autism Research, 2011, v. 4, n. 3, p. 221, doi. 10.1002/aur.186
By:
- Griswold, Anthony J.;
- Ma, Deqiong;
- Sacharow, Stephanie J.;
- Robinson, Joycelyn L.;
- Jaworski, James M.;
- Wright, Harry H.;
- Abramson, Ruth K.;
- Lybæk, Helle;
- Øyen, Nina;
- Cuccaro, Michael L.;
- Gilbert, John R.;
- Pericak-Vance, Margaret A.
Publication type:
Article
Copy Number Variants in Extended Autism Spectrum Disorder Families Reveal Candidates Potentially Involved in Autism Risk.
Published in:
PLoS ONE, 2011, v. 6, n. 10, p. 1, doi. 10.1371/journal.pone.0026049
By:
- Salyakina, Daria;
- Cukier, Holly N.;
- Lee, Joycelyn M.;
- Sacharow, Stephanie;
- Nations, Laura D.;
- Ma, Deqiong;
- Jaworski, James M.;
- Konidari, Ioanna;
- Whitehead, Patrice L.;
- Wright, Harry H.;
- Abramson, Ruth K.;
- Williams, Scott M.;
- Menon, Ramkumar;
- Haines, Jonathan L.;
- Gilbert, John R.;
- Cuccaro, Michael L.;
- Pericak-Vance, Margaret A.
Publication type:
Article
A Novel Sporadic 614-Kb Duplication of the 22q11.2 Chromosome in a Child With Amyoplasia.
Published in:
2011
By:
- Liewluck, Teerin;
- Sacharow, Stephanie J.;
- Fan, YaoShan;
- Lopez-Alberola, Roberto
Publication type:
Case Study
<italic>MPV17</italic>‐related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects.
Published in:
Human Mutation, 2018, v. 39, n. 4, p. 461, doi. 10.1002/humu.23387
By:
- El‐Hattab, Ayman W.;
- Wang, Julia;
- Dai, Hongzheng;
- Almannai, Mohammed;
- Staufner, Christian;
- Alfadhel, Majid;
- Gambello, Michael J.;
- Prasun, Pankaj;
- Raza, Saleem;
- Lyons, Hernando J.;
- Afqi, Manal;
- Saleh, Mohammed A. M.;
- Faqeih, Eissa A.;
- Alzaidan, Hamad I.;
- Alshenqiti, Abduljabbar;
- Flore, Leigh Anne;
- Hertecant, Jozef;
- Sacharow, Stephanie;
- Barbouth, Deborah S.;
- Murayama, Kei
Publication type:
Article
Detection of pathogenic gene copy number variations in patients with mental retardation by genomewide oligonucleotide array comparative genomic hybridization.
Published in:
Human Mutation, 2007, v. 28, n. 11, p. 1124, doi. 10.1002/humu.20581
By:
- Fan, Yao-Shan;
- Jayakar, Parul;
- Zhu, Hongbo;
- Barbouth, Deborah;
- Sacharow, Stephanie;
- Morales, Ana;
- Carver, Virginia;
- Benke, Paul;
- Mundy, Peter;
- Elsas, Louis J.
Publication type:
Article

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