Works by Shaffer, Lisa

Results: 112

Compensating for central nervous system dysmyelination: females with a proteolipid protein gene duplication and sustained clinical improvement.

Published in:

2001

By:

Inoue, Ken;
Tanaka, Hajime;
Scaglia, Fernando;
Araki, Akiko;
Shaffer, Lisa G.;
Lupski, James R.;
Inoue, K;
Tanaka, H;
Scaglia, F;
Araki, A;
Shaffer, L G;
Lupski, J R

Publication type:

journal article

Proteolipid protein gene duplications causing Pelizaeus-Merzbacher disease: Molecular mechanism and phenotypic manifestations.

Published in:

Annals of Neurology, 1999, v. 45, n. 5, p. 624, doi. 10.1002/1531-8249(199905)45:5<624::AID-ANA11>3.0.CO;2-1

By:

Inoue, Ken;
Osaka, Hitoshi;
Imaizumi, Kiyoshi;
Nezu, Atsuo;
Takanashi, Jun-Ichi;
Arii, Junko;
Murayama, Keiko;
Ono, Jiro;
Kikawa, Yoshiharu;
Mito, Takashi;
Shaffer, Lisa G.;
Lupski, James R.

Publication type:

Article

A Novel Fluorochrome Linked lmmunosorbent Assay (FLISA) for the complete analysis of the mannose binding lectin (MBL) complement pathway.

Published in:

FASEB Journal, 2007, v. 21, n. 5, p. A181, doi. 10.1096/fasebj.21.5.a181-d

By:

Walsh, Mary Christine;
Shaffer, Lisa A.;
Body, Simon C.;
Shernan, Stanton K.;
Fox, Amanda A.;
Collard, Charles D.;
Taylor, Ronald P.;
Stahl, Gregory L.

Publication type:

Article

Haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palate.

Published in:

Human Genetics, 2013, v. 132, n. 5, p. 537, doi. 10.1007/s00439-013-1263-x

By:

Lindgren, Amelia;
Hoyos, Tatiana;
Talkowski, Michael;
Hanscom, Carrie;
Blumenthal, Ian;
Chiang, Colby;
Ernst, Carl;
Pereira, Shahrin;
Ordulu, Zehra;
Clericuzio, Carol;
Drautz, Joanne;
Rosenfeld, Jill;
Shaffer, Lisa;
Velsher, Lea;
Pynn, Tania;
Vermeesch, Joris;
Harris, David;
Gusella, James;
Liao, Eric;
Morton, Cynthia

Publication type:

Article

Clinical characterization of individuals with deletions of genes in holoprosencephaly pathways by aCGH refines the phenotypic spectrum of HPE.

Published in:

Human Genetics, 2010, v. 127, n. 4, p. 421, doi. 10.1007/s00439-009-0778-7

By:

Rosenfeld, Jill A.;
Ballif, Blake C.;
Martin, Donna M.;
Aylsworth, Arthur S.;
Bejjani, Bassem A.;
Torchia, Beth S.;
Shaffer, Lisa G.

Publication type:

Article

Further delineation of nonhomologous-based recombination and evidence for subtelomeric segmental duplications in 1p36 rearrangements.

Published in:

Human Genetics, 2009, v. 125, n. 5/6, p. 551, doi. 10.1007/s00439-009-0650-9

By:

D'Angelo, Carla S.;
Gajecka, Marzena;
Kim, Chong A.;
Gentles, Andrew J.;
Glotzbach, Caron D.;
Shaffer, Lisa G.;
Koiffmann, Célia P.

Publication type:

Article

Identification of sequence motifs at the breakpoint junctions in three t(1;9)(p36.3;q34) and delineation of mechanisms involved in generating balanced translocations.

Published in:

Human Genetics, 2006, v. 120, n. 4, p. 519, doi. 10.1007/s00439-006-0222-1

By:

Gajecka, Marzena;
Pavlicek, Adam;
Glotzbach, Caron D.;
Ballif, Blake C.;
Jarmuz, Malgorzata;
Jurka, Jerzy;
Shaffer, Lisa G.

Publication type:

Article

Evidence for involvement of TRE-2 ( USP6) oncogene, low-copy repeat and acrocentric heterochromatin in two families with chromosomal translocations.

Published in:

Human Genetics, 2006, v. 120, n. 2, p. 227, doi. 10.1007/s00439-006-0200-7

By:

Ou, Zhishuo;
Jarmuż, Małgorzata;
Sparagana, Steven;
Michaud, Jacques;
Décarie, Jean-Claude;
Yatsenko, Svetlana;
Nowakowska, Beata;
Furman, Patti;
Shaw, Chad;
Shaffer, Lisa;
Lupski, James;
Chinault, A.;
Cheung, Sau;
Stankiewicz, Paweł

Publication type:

Article

Translocation breakpoint mapping and sequence analysis in three monosomy 1p36 subjects with der(1)t(1;1)(p36;q44) suggest mechanisms for telomere capture in stabilizing de novo terminal rearrangements.

Published in:

Human Genetics, 2004, v. 114, n. 2, p. 198, doi. 10.1007/s00439-003-1029-y

By:

Ballif, Blake C.;
Wakui, Keiko;
Gajecka, Marzena;
Shaffer, Lisa G.

Publication type:

Article

Skeletal defects in paternal uniparental disomy for chromosome 14 are re-capitulated in the mouse model (paternal uniparental disomy 12).

Published in:

Human Genetics, 2003, v. 113, n. 5, p. 447, doi. 10.1007/s00439-003-0981-x

By:

Sutton, V. Reid;
McAlister, William H.;
Bertin, Terry K.;
Kaffe, Sara;
Wang, Jin-Chen C.;
Yano, Shoji;
Shaffer, Lisa G.;
Lee, Brendan;
Epstein, Charles J.;
Villar, Angela J.

Publication type:

Article

Haploinsufficiency of PAX9 is associated with autosomal dominant hypodontia.

Published in:

Human Genetics, 2002, v. 110, n. 4, p. 371, doi. 10.1007/s00439-002-0699-1

By:

Das, Parimal;
Stockton, David W.;
Bauer, Christopher;
Shaffer, Lisa G.;
D'Souza, Rena N.;
Wright, Timothy J.;
Patel, Pragna I.

Publication type:

Article

A case of segmental paternal isodisomy of chromosome 14.

Published in:

Human Genetics, 2002, v. 110, n. 3, p. 251, doi. 10.1007/s00439-002-0688-4

By:

Coveler, Karen J.;
Yang, Sam P.;
Sutton, Reid V.;
Milstein, Jay M.;
Yuan-Qing Wu;
Bois, Cami;
Beischel, Linda S.;
Johnson, John P.;
Shaffer, Lisa G.

Publication type:

Article

Discovery of a previously unrecognized microdeletion syndrome of 16p11.2–p12.2.

Published in:

Nature Genetics, 2007, v. 39, n. 9, p. 1071, doi. 10.1038/ng2107

By:

Ballif, Blake C.;
Hornor, Sara A.;
Jenkins, Elizabeth;
Madan-Khetarpal, Suneeta;
Surti, Urvashi;
Jackson, Kelly E.;
Asamoah, Alexander;
Brock, Pamela L.;
Gowans, Gordon C.;
Conway, Robert L.;
Graham Jr., John M.;
Medne, Livija;
Zackai, Elaine H.;
Shaikh, Tamim H.;
Geoghegan, Joel;
Selzer, Rebecca R.;
Eis, Peggy S.;
Bejjani, Bassem A.;
Shaffer, Lisa G.

Publication type:

Article

Loss of the SKI proto-oncogene in individuals affected with 1p36 deletion syndrome is predicted by strain-dependent defects in Ski<sup>-/-</sup> mice.

Published in:

Nature Genetics, 2002, v. 30, n. 1, p. 106, doi. 10.1038/ng770

By:

Colmenares, Clemencia;
Heilstedt, Heidi A.;
Shaffer, Lisa G.;
Schwartz, Stuart;
Berk, Michael;
Murray, Jeffrey C.;
Stavnezer, Ed

Publication type:

Article

Molecular mechanism for duplication 17p11.2? the homologous recombination reciprocal of the Smith-Magenis microdeletion.

Published in:

Nature Genetics, 2000, v. 24, n. 1, p. 84, doi. 10.1038/71743

By:

Potocki, Lorraine;
Chen, Ken-Shiung;
Park, Sung-Sup;
Osterholm, Doreen E.;
Withers, Marjorie A.;
Kimonis, Virginia;
Summers, Anne M.;
Meschino, Wendy S.;
Anyane-Yeboa, Kwame;
Kashork, Catherine D.;
Shaffer, Lisa G.;
Lupski, James R.

Publication type:

Article

Special issue on companion animal genetics: Novel variants discovered in wide variety of diseases in dogs, identification and further characterization of traits in dogs and cats, and the use of microarrays in the detection of aneuploidy in dogs.

Published in:

Human Genetics, 2021, v. 140, n. 11, p. 1501, doi. 10.1007/s00439-021-02375-z

By:

Shaffer, Lisa G.

Publication type:

Article

Identification of a novel missense mutation in the fibroblast growth factor 5 gene associated with longhair in the Maine Coon Cat.

Published in:

Human Genetics, 2021, v. 140, n. 11, p. 1517, doi. 10.1007/s00439-021-02373-1

By:

Shaffer, Griffin D.;
Ballif, Blake C.;
Meurs, Kathryn;
Shaffer, Lisa G.;
Flores-Smith, Helen

Publication type:

Article

Radiographical Survey of Osteochondrodysplasia in Scottish Fold Cats caused by the TRPV4 gene variant.

Published in:

Human Genetics, 2021, v. 140, n. 11, p. 1525, doi. 10.1007/s00439-021-02337-5

By:

Rorden, Chris;
Griswold, Marilee C.;
Moses, Nan;
Berry, Clifford R.;
Keller, G. Gregory;
Rivas, Rudy;
Flores-Smith, Helen;
Shaffer, Lisa G.;
Malik, Richard

Publication type:

Article

The PMEL gene and merle (dapple) in the dachshund: cryptic, hidden, and mosaic variants demonstrate the need for genetic testing prior to breeding.

Published in:

Human Genetics, 2021, v. 140, n. 11, p. 1581, doi. 10.1007/s00439-021-02330-y

By:

Ballif, Blake C.;
Emerson, Lisa J.;
Ramirez, Christina J.;
Carl, Casey R.;
Sundin, Kyle;
Flores-Smith, Helen;
Shaffer, Lisa G.

Publication type:

Article

Identification of aneuploidy in dogs screened by a SNP microarray.

Published in:

Human Genetics, 2021, v. 140, n. 11, p. 1619, doi. 10.1007/s00439-021-02318-8

By:

Shaffer, Lisa G.;
Hopp, Bradley;
Switonski, Marek;
Zahand, Adam;
Ballif, Blake C.

Publication type:

Article

Special issue on canine genetics: animal models for human disease and gene therapies, new discoveries for canine inherited diseases, and standards and guidelines for clinical genetic testing for domestic dogs.

Published in:

Human Genetics, 2019, v. 138, n. 5, p. 437, doi. 10.1007/s00439-019-02025-5

By:

Shaffer, Lisa G.

Publication type:

Article

Quality assurance checklist and additional considerations for canine clinical genetic testing laboratories: a follow-up to the published standards and guidelines.

Published in:

Human Genetics, 2019, v. 138, n. 5, p. 501, doi. 10.1007/s00439-019-02013-9

By:

Shaffer, Lisa G.;
Geretschlaeger, Anja;
Ramirez, Christina J.;
Ballif, Blake C.;
Carl, Casey

Publication type:

Article

Standards and guidelines for canine clinical genetic testing laboratories.

Published in:

Human Genetics, 2019, v. 138, n. 5, p. 493, doi. 10.1007/s00439-018-1954-4

By:

Shaffer, Lisa G.;
Sundin, Kyle;
Geretschlaeger, Anja;
Segert, Julia;
Swinburne, June E.;
Royal, Ramon;
Loechel, Robert;
Ramirez, Christina J.;
Ballif, Blake C.

Publication type:

Article

Loss of the Potassium Channel β-Subunit Gene, KCNAB2, Is Associated with Epilepsy in Patients with 1p36 Deletion Syndrome.

Published in:

Epilepsia (Series 4), 2001, v. 42, n. 9, p. 1103, doi. 10.1046/j.1528-1157.2001.08801.x

By:

Heilstedt, Heidi A.;
Burgess, Daniel L.;
Anderson, Anne E.;
Chedrawi, Aziza;
Tharp, Barry;
Lee, Olivia;
Kashork, Catherine D.;
Starkey, David E.;
Wu, Yuan-Qing;
Noebels, Jeffrey L.;
Shaffer, Lisa G.;
Shapira, Stuart K.

Publication type:

Article

Prenatal Diagnosis of Charcot-Marie-Tooth Disease Type 1A.

Published in:

Annals of the New York Academy of Sciences, 1999, v. 883, n. 1, p. 457, doi. 10.1111/j.1749-6632.1999.tb08609.x

By:

KASHORK, CATHERINE D.;
CHEN, KEN-SHIUNG;
LUPSKI, JAMES R.;
SHAFFER, LISA G.

Publication type:

Article

The PMEL Gene and Merle in the Domestic Dog: A Continuum of Insertion Lengths Leads to a Spectrum of Coat Color Variations in Australian Shepherds and Related Breeds.

Published in:

Cytogenetic & Genome Research, 2018, v. 156, n. 1, p. 22, doi. 10.1159/000491408

By:

Ballif, Blake C.;
Ramirez, Christina J.;
Carl, Casey R.;
Sundin, Kyle;
Krug, Melissa;
Zahand, Adam;
Shaffer, Lisa G.;
Flores-Smith, Helen

Publication type:

Article

An International Genetic Survey of Breed-Specific Diseases in Working Dogs from the United States, Israel, and Poland.

Published in:

Cytogenetic & Genome Research, 2018, v. 153, n. 4, p. 198, doi. 10.1159/000486774

By:

Shaffer, Lisa G.;
Ramirez, Christina J.;
Phelps, Patricia;
Aviram, Maya;
Walczak, Marta;
Bar-Gal, Gila Kahila;
Ballif, Blake C.

Publication type:

Article

In case you missed it: the Prenatal Diagnosis section editors bring you the most significant advances of 2013.

Published in:

Prenatal Diagnosis, 2014, v. 34, n. 1, p. 1, doi. 10.1002/pd.4288

By:

Bianchi, Diana W.;
Van Mieghem, Tim;
Shaffer, Lisa G.;
Faas, Brigitte H. W.;
Chitty, Lyn S.;
Ghidini, Alessandro;
Deprest, Jan

Publication type:

Article

The clinical utility of microarray technologies applied to prenatal cytogenetics in the presence of a normal conventional karyotype: a review of the literature.

Published in:

Prenatal Diagnosis, 2013, v. 33, n. 12, p. 1119, doi. 10.1002/pd.4209

By:

Callaway, Jonathan L. A.;
Shaffer, Lisa G.;
Chitty, Lyn S.;
Rosenfeld, Jill A.;
Crolla, John A.

Publication type:

Article

The 2012 Malcolm Ferguson-Smith Young Investigator Award.

Published in:

Prenatal Diagnosis, 2013, v. 33, n. 7, p. 619, doi. 10.1002/pd.4169

By:

Bianchi, Diana W.;
Chitty, Lyn S.;
Deprest, Jan;
Ghidini, Alessandro;
Shaffer, Lisa G.;
Cousens, Rupert K. J.

Publication type:

Article

Experience with microarray-based comparative genomic hybridization for prenatal diagnosis in over 5000 pregnancies.

Published in:

Prenatal Diagnosis, 2012, v. 32, n. 10, p. 976, doi. 10.1002/pd.3945

By:

Shaffer, Lisa G.;
Dabell, Mindy P.;
Fisher, Allan J.;
Coppinger, Justine;
Bandholz, Anne M.;
Ellison, Jay W.;
Ravnan, J. Britt;
Torchia, Beth S.;
Ballif, Blake C.;
Rosenfeld, Jill A.

Publication type:

Article

Detection rates of clinically significant genomic alterations by microarray analysis for specific anomalies detected by ultrasound.

Published in:

Prenatal Diagnosis, 2012, v. 32, n. 10, p. 986, doi. 10.1002/pd.3943

By:

Shaffer, Lisa G;
Rosenfeld, Jill A;
Dabell, Mindy P;
Coppinger, Justine;
Bandholz, Anne M;
Ellison, Jay W;
Ravnan, J Britt;
Torchia, Beth S;
Ballif, Blake C;
Fisher, Allan J

Publication type:

Article

The 2011 Malcolm Ferguson-Smith Young Investigator Award.

Published in:

Prenatal Diagnosis, 2012, v. 32, n. 7, p. 613, doi. 10.1002/pd.3916

By:

Bianchi, Diana W.;
Chitty, Lyn S.;
Deprest, Jan;
Ghidini, Alessandro;
Shaffer, Lisa G.;
Hughes, Richard E. M.

Publication type:

Article

Referral patterns for microarray testing in prenatal diagnosis.

Published in:

Prenatal Diagnosis, 2012, v. 32, n. 6, p. 611, doi. 10.1002/pd.3909

By:

Shaffer, Lisa G.;
Dabell, Mindy Preston;
Rosenfeld, Jill A.;
Neill, Nicholas J.;
Ballif, Blake C.;
Coppinger, Justine;
Diwan, Noa Rinzler;
Chong, Karen;
Shohat, Mordechai;
Chitayat, David

Publication type:

Article

New technologies for the assessment of chromosomes in prenatal diagnosis.

Published in:

Prenatal Diagnosis, 2012, v. 32, n. 4, p. 307, doi. 10.1002/pd.3858

By:

Shaffer, Lisa G.;
Veyver, Ignatia B. Van

Publication type:

Article

Referral patterns for microarray testing in prenatal diagnosis.

Published in:

Prenatal Diagnosis, 2012, v. 32, n. 4, p. 344, doi. 10.1002/pd.3856

By:

Shaffer, Lisa G.;
Dabell, Mindy Preston;
Rosenfeld, Jill A.;
Neill, Nicholas J.;
Ballif, Blake C.;
Coppinger, Justine;
Diwan, Noa Rinzler;
Chong, Karen;
Shohat, Mordechai;
Chitayat, David

Publication type:

Article

The 2010 Malcolm Ferguson-Smith Young Investigator Award.

Published in:

Prenatal Diagnosis, 2011, v. 31, n. 10, p. 923, doi. 10.1002/pd.2841

By:

Bianchi, Diana W.;
Chitty, Lyn S.;
Deprest, Jan;
Ghidini, Alessandro;
Shaffer, Lisa G.;
Hughes, Richard E. M.

Publication type:

Article

The development of a rapid assay for prenatal testing of common aneuploidies and microdeletion syndromes.

Published in:

Prenatal Diagnosis, 2011, v. 31, n. 8, p. 778, doi. 10.1002/pd.2766

By:

Shaffer, Lisa G.;
Coppinger, Justine;
Morton, S. Annie;
Alliman, Sarah;
Burleson, Jessica;
Traylor, Ryan;
Walker, Cathryn;
Byerly, Steve;
Lamb, Allen N.;
Schultz, Roger;
Ravnan, J. Britt;
Kashork, Catherine D.;
Torchia, Beth S.;
Sulpizio, Scott;
Sundin, Kyle;
Schermer, Mack;
Adler, Karl;
Dallaire, Stephanie;
Ballif, Blake C.

Publication type:

Article

Current controversies in prenatal diagnosis 3: is conventional chromosome analysis necessary in the post-array CGH era?

Published in:

Prenatal Diagnosis, 2011, v. 31, n. 3, p. 235, doi. 10.1002/pd.2722

By:

Bui, The-Hung;
Vetro, Annalisa;
Zuffardi, Orsetta;
Shaffer, Lisa G.

Publication type:

Article

Diagnostic utility of array-based comparative genomic hybridization (aCGH) in a prenatal setting.

Published in:

Prenatal Diagnosis, 2010, v. 30, n. 12/13, p. 1131, doi. 10.1002/pd.2626

By:

Maya, Idit;
Davidov, Bella;
Gershovitz, Liron;
Zalzstein, Yael;
Taub, Ellen;
Coppinger, Justine;
Shaffer, Lisa G.;
Shohat, Mordechai

Publication type:

Article

Use of array comparative genomic hybridization for prenatal diagnosis of fetuses with sonographic anomalies and normal metaphase karyotype.

Published in:

Prenatal Diagnosis, 2009, v. 29, n. 13, p. 1213, doi. 10.1002/pd.2367

By:

Kleeman, Linda;
Bianchi, Diana W.;
Shaffer, Lisa G.;
Rorem, Emily;
Cowan, Janet;
Craigo, Sabrina D.;
Tighiouart, Hocine;
Wilkins-Haug, Louise E.

Publication type:

Article

Whole-genome microarray analysis in prenatal specimens identifies clinically significant chromosome alterations without increase in results of unclear significance compared to targeted microarray.

Published in:

Prenatal Diagnosis, 2009, v. 29, n. 12, p. 1156, doi. 10.1002/pd.2371

By:

Coppinger, Justine;
Alliman, Sarah;
Lamb, Allen N.;
Torchia, Beth S.;
Bejjani, Bassem A.;
Shaffer, Lisa G.

Publication type:

Article

Comparison of microarray-based detection rates for cytogenetic abnormalities in prenatal and neonatal specimens.

Published in:

Prenatal Diagnosis, 2008, v. 28, n. 9, p. 789, doi. 10.1002/pd.2053

By:

Shaffer, Lisa G.;
Coppinger, Justine;
Alliman, Sarah;
Torchia, Beth A.;
Theisen, Aaron;
Ballif, Blake C.;
Bejjani, Bassem A.

Publication type:

Article

Detecting sex chromosome anomalies and common triploidies in products of conception by array-based comparative genomic hybridization.

Published in:

Prenatal Diagnosis, 2006, v. 26, n. 4, p. 333, doi. 10.1002/pd.1411

By:

Ballif, Blake C.;
Kashork, Catherine D.;
Saleki, Reza;
Rorem, Emily;
Sundin, Kyle;
Bejjani, Bassem A.;
Shaffer, Lisa G.

Publication type:

Article

Risk estimates for uniparental disomy following prenatal detection of a nonhomologous Robertsonian translocation.

Published in:

2006

By:

Shaffer, Lisa G.

Publication type:

Other

Low or absent unconjugated estriol in pregnancy: an indicator for steroid sulfatase deficiency detectable by fluorescence in situ hybridization and biochemical analysis.

Published in:

Prenatal Diagnosis, 2002, v. 22, n. 11, p. 1028, doi. 10.1002/pd.466

By:

Kashork, Catherine D.;
Sutton, V. Reid;
Fonda Allen, Jill S.;
Schmidt, Deborah E.;
Likhite, Marisa L.;
Potocki, Lorraine;
O'Brien, William E.;
Shaffer, Lisa G.

Publication type:

Article

The importance of investigating for uniparental disomy in prenatally identified balanced acrocentric rearrangements.

Published in:

Prenatal Diagnosis, 2002, v. 22, n. 2, p. 141, doi. 10.1002/pd.279

By:

McGowan, Kathryn D.;
Weiser, Joseph J.;
Horwitz, Juli;
Ann Berend, Sue;
McCaskill, Christopher;
Reid Sutton, V.;
Shaffer, Lisa G.

Publication type:

Article

Prenatal interphase FISH diagnosis of PLP1 duplication associated with Pelizaeus-Merzbacher disease.

Published in:

Prenatal Diagnosis, 2001, v. 21, n. 13, p. 1133, doi. 10.1002/pd.186

By:

Inoue, Ken;
Kanai, Makoto;
Tanabe, Yuzo;
Kubota, Takeo;
Kashork, Catherine D.;
Wakui, Keiko;
Fukushima, Yoshimitsu;
Lupski, James R.;
Shaffer, Lisa G.

Publication type:

Article

Prenatal diagnosis of a homologous Robertsonian translocation involving chromosome 15.

Published in:

Prenatal Diagnosis, 2001, v. 21, n. 8, p. 676, doi. 10.1002/pd.133

By:

Abrams, Debra J.;
Aronoff, Amy R.;
Ann Berend, Sue;
Roa, Benjamin B.;
Shaffer, Lisa G.;
Geier, Mark R.

Publication type:

Article

Confined placental mosaicism for trisomy 14 and maternal uniparental disomy in association with elevated second trimester maternal serum human chorionic gonadotrophin and third trimester fetal growth restriction.

Published in:

Prenatal Diagnosis, 2001, v. 21, n. 5, p. 395, doi. 10.1002/pd.75

By:

Towner, Dena R.;
Shaffer, Lisa G.;
Yang, Sam P.;
Walgenbach, Donna D.

Publication type:

Article