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Lisa Shaffer

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Angela L Duker; Blake C Ballif; Erawati V Bawle; Richard E Person; Sangeetha Mahadevan; Sarah Alliman; Regina Thompson; Ryan Traylor; Bassem A Bejjani; Lisa Shaffer; Jill A Rosenfeld; Allen N Lamb; Trilochan Sahoo
Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader-Willi syndrome.
Catherine D Kashork; Aaron Theisen; Lisa Shaffer
Diagnosis of cryptic chromosomal syndromes by fluorescence in situ hybridization (FISH).
Francesca Antonacci; Jeffrey M Kidd; Tomas Marques-Bonet; Brian Teague; Mario Ventura; Santhosh Girirajan; Can Alkan; Catarina D Campbell; Laura Vives; Maika Malig; Jill A Rosenfeld; Blake C Ballif; Lisa Shaffer; Tina A Graves; Richard K Wilson; David C Schwartz; Evan E Eichler
A large and complex structural polymorphism at 16p12.1 underlies microdeletion disease risk.

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2010: Angela L Duker; Blake C Ballif; Erawati V Bawle; Richard E Person; Sangeetha Mahadevan; Sarah Alliman; Regina Thompson; Ryan Traylor; Bassem A Bejjani; Lisa Shaffer; Jill A Rosenfeld; Allen N Lamb; Trilochan Sahoo
Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader-Willi syndrome.
European journal of human genetics : EJHG 2010;18(11):1196-201.
2010: Catherine D Kashork; Aaron Theisen; Lisa Shaffer
Diagnosis of cryptic chromosomal syndromes by fluorescence in situ hybridization (FISH).
Current protocols in human genetics / editorial board, Jonathan L. Haines ... [et al.] 2010;Chapter 8():Unit 8.10.1-20.
2010: Francesca Antonacci; Jeffrey M Kidd; Tomas Marques-Bonet; Brian Teague; Mario Ventura; Santhosh Girirajan; Can Alkan; Catarina D Campbell; Laura Vives; Maika Malig; Jill A Rosenfeld; Blake C Ballif; Lisa Shaffer; Tina A Graves; Richard K Wilson; David C Schwartz; Evan E Eichler
A large and complex structural polymorphism at 16p12.1 underlies microdeletion disease risk.
Nature genetics 2010;42(9):745-50.
2010: Jill A Rosenfeld; John A Crolla; Susan Tomkins; Patricia Bader; Bernice E Morrow; Jerome Gorski; Robin Troxell; Cynthia Forster-Gibson; Deirdre Cilliers; R Gordon Hislop; Allen Lamb; Beth Torchia; Blake C Ballif; Lisa Shaffer
Refinement of causative genes in monosomy 1p36 through clinical and molecular cytogenetic characterization of small interstitial deletions.
American journal of medical genetics. Part A 2010;152A(8):1951-9.
2010: Ji-Eun Kim; Kwang-Sook Woo; Kyung-Eun Kim; Sung-Hyun Kim; Joo-In Park; Lisa Shaffer; Jin-Yeong Han
Duplications of the long arm of both chromosome 1, dup(1)(q21q32), leading to tetrasomy 1q in myelodysplastic syndrome.
Leukemia research 2010;34(8):e210-2.
2010: Ji Eun Kim; Kwang Sook Woo; Kyung Eun Kim; Sung Hyun Kim; Joo-In Park; Lisa Shaffer; Jin-Yeong Han
A rare case of acute lymphoblastic leukemia with t(12;17)(p13;q21).
The Korean journal of laboratory medicine 2010;30(3):239-43.
2010: Arie Koifman; Annette Feigenbaum; Weimin Bi; Lisa Shaffer; Jill Rosenfeld; Susan Blaser; David Chitayat
A homozygous deletion of 8q24.3 including the NIBP gene associated with severe developmental delay, dysgenesis of the corpus callosum, and dysmorphic facial features.
American journal of medical genetics. Part A 2010;152A(5):1268-72.
2010: Blake C Ballif; Aaron Theisen; Jill A Rosenfeld; Ryan N Traylor; Julie M Gastier-Foster; Devon Lamb Thrush; Caroline Astbury; Dennis Bartholomew; Kim L McBride; Robert E Pyatt; Kate Shane; Wendy E Smith; Valerie Banks; William B Gallentine; Pamela Brock; M Katharine Rudd; Margaret P Adam; Julia A Keene; John A Phillips; Jean P Pfotenhauer; Gordon C Gowans; Pawel Stankiewicz; Bassem A Bejjani; Lisa Shaffer
Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities.
American journal of human genetics 2010;86(3):454-61.
2010: Santhosh Girirajan; Jill A Rosenfeld; Gregory Cooper; Francesca Antonacci; Priscillia Siswara; Andy Itsara; Laura Vives; Tom Walsh; Shane E McCarthy; Carl Baker; Heather C Mefford; Jeffrey M Kidd; Sharon R Browning; Brian L Browning; Diane E Dickel; Deborah L Levy; Blake C Ballif; Kathryn Platky; Darren M Farber; Gordon C Gowans; Jessica J Wetherbee; Alexander Asamoah; David D Weaver; Paul R Mark; Jennifer Dickerson; Bhuwan P Garg; Sara A Ellingwood; Rosemarie Smith; Valerie C Banks; Wendy Smith; Marie T McDonald; Joe J Hoo; Beatrice N French; Cindy Hudson; John P Johnson; Jillian R Ozmore; John B Moeschler; Urvashi Surti; Luis F Escobar; Dima El-Khechen; Jerome L Gorski; Jennifer Kussmann; Bonnie Salbert; Yves Lacassie; Alisha Biser; Donna M McDonald-McGinn; Elaine H Zackai; Matthew A Deardorff; Tamim H Shaikh; Eric Haan; Kathryn L Friend; Marco Fichera; Corrado Romano; Jozef Gécz; Lynn E DeLisi; Jonathan Sebat; Mary-Claire King; Lisa Shaffer; Evan E Eichler
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay.
Nature genetics 2010;42(3):203-9.
2010: Daniel Swarr; Douglas Bloom; Richard Alan Lewis; Ewa Elenberg; Ellen M Friedman; Caron D Glotzbach; Scott D Wissman; Lisa Shaffer; Lorraine Potocki
Potocki-Shaffer syndrome: comprehensive clinical assessment, review of the literature, and proposals for medical management.
American journal of medical genetics. Part A 2010;152A(3):565-72.
2010: Kwang-Sook Woo; Ji-Eun Kim; Kyung-Eun Kim; Myo-Jing Kim; Jae-Ho Yoo; Hyun-Sook Ahn; Lisa Shaffer; Jin-Yeong Han
A de novo proximal 6q deletion confirmed by array comparative genomic hybridization.
The Korean journal of laboratory medicine 2010;30(1):84-8.
2010: Ryan N Traylor; Damien L Bruno; Trent Burgess; Robert Wildin; Anne Spencer; Devika Ganesamoorthy; David J Amor; Matthew Hunter; Michael Caplan; Jill A Rosenfeld; Aaron Theisen; Beth S Torchia; Lisa Shaffer; Blake C Ballif; Howard R Slater
A genotype-first approach for the molecular and clinical characterization of uncommon de novo microdeletion of 20q13.33.
PloS one 2010;5(8):e12462.
2010: Nicholas J Neill; Beth S Torchia; Bassem A Bejjani; Lisa Shaffer; Blake C Ballif
Comparative analysis of copy number detection by whole-genome BAC and oligonucleotide array CGH.
Molecular cytogenetics 2010;3():11.
2010: Bassem A Bejjani; Lisa Shaffer; Blake C Ballif
The use of microarray technology for cytogenetics.
Methods in molecular biology (Clifton, N.J.) 2010;632():125-39.
2009: Karen D Tsuchiya; Lisa Shaffer; Swaroop Aradhya; Julie M Gastier-Foster; Ankita Patel; M Katharine Rudd; Julie Sanford Biggerstaff; Warren G Sanger; Stuart Schwartz; James H Tepperberg; Erik C Thorland; Beth A Torchia; Arthur R Brothman
Variability in interpreting and reporting copy number changes detected by array-based technology in clinical laboratories.
Genetics in medicine : official journal of the American College of Medical Genetics 2009;11(12):866-73.
2009: Linda Kleeman; Diana Bianchi; Lisa Shaffer; Emily Rorem; Janet Cowan; Sabrina D Craigo; Hocine Tighiouart; Louise E Wilkins-Haug
Use of array comparative genomic hybridization for prenatal diagnosis of fetuses with sonographic anomalies and normal metaphase karyotype.
Prenatal diagnosis 2009;29(13):1213-7.
2009: Justine Coppinger; Sarah Alliman; Allen N Lamb; Beth S Torchia; Bassem A Bejjani; Lisa Shaffer
Whole-genome microarray analysis in prenatal specimens identifies clinically significant chromosome alterations without increase in results of unclear significance compared to targeted microarray.
Prenatal diagnosis 2009;29(12):1156-66.
2009: Jill A Rosenfeld; Kathleen Leppig; Blake C Ballif; Heidi Thiese; Christine Erdie-Lalena; Erawati V Bawle; Sujatha Sastry; J Edward Spence; Anne Bandholz; Urvashi Surti; Jonathan (Jon) Zonana; Kory L Keller; Wendy Meschino; Bassem A Bejjani; Beth S Torchia; Lisa Shaffer
Genotype-phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutations.
Genetics in medicine : official journal of the American College of Medical Genetics 2009;11(11):797-805.
2009: Steve Byerly; Kyle Sundin; Rajiv Raja; Jim Stanchfield; Bassem A Bejjani; Lisa Shaffer
Effects of ozone exposure during microarray posthybridization washes and scanning.
The Journal of molecular diagnostics : JMD 2009;11(6):590-7.
2009: Kwang-Sook Woo; Kyung-Eun Kim; Kyeong-Hee Kim; Sung-Hyun Kim; Joo-In Park; Lisa Shaffer; Jin-Yeong Han
Deletions of chromosome arms 7p and 7q in adult acute myeloid leukemia: a marker chromosome confirmed by array comparative genomic hybridization.
Cancer genetics and cytogenetics 2009;194(2):71-4.
2009: Lisa Shaffer; Bassem A Bejjani
Using microarray-based molecular cytogenetic methods to identify chromosome abnormalities.
Pediatric annals 2009;38(8):440-7.
2009: Jan O Korbel; Tal Tirosh-Wagner; Alexander Eckehart Urban; Xiao-Ning Chen; Maya Kasowski; Li Dai; Fabian Grubert; Chandra Erdman; Michael C Gao; Ken Lange; Eric M Sobel; Gillian M Barlow; Arthur S Aylsworth; Nancy J Carpenter; Robin Dawn Clark; Monika Y Cohen; Eric Doran; Tzipora Falik-Zaccai; Susan O Lewin; Ira T Lott; Barbara C McGillivray; John B Moeschler; Mark J Pettenati; Siegfried M Pueschel; Kathleen W Rao; Lisa Shaffer; Mordechai Shohat; Alexander J Van Riper; Dorothy Warburton; Sherman Weissman; Mark B Gerstein; Michael Snyder; julie R korenberg
The genetic architecture of Down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies.
Proceedings of the National Academy of Sciences of the United States of America 2009;106(29):12031-6.
2009: Paweł Stankiewicz; Partha Sen; samarth Bhatt; Mekayla Storer; Zhilian Xia; Bassem A Bejjani; Zhishuo Ou; Joanna Wiszniewska; Daniel J Driscoll; Melissa K Maisenbacher; Juan Bolivar; Mislen Bauer; Elaine H Zackai; Donna McDonald-McGinn; Małgorzata M J Nowaczyk; Mitzi Murray; Virginia Hustead; Kristin Mascotti; Regina Schultz; Lavinia Hallam; Duncan McRae; Andrew G Nicholson; Robert Newbury; Jane Durham-O'Donnell; Gail Knight; Usha Kini; Tamim H Shaikh; Vicki Martin; Matthew Tyreman; Ingrid Simonic; Lionel Willatt; Joan Paterson; Sarju Mehta; Diana Rajan; Tomas Fitzgerald; Susan Gribble; Elena Prigmore; Ankita Patel; Lisa Shaffer; Nigel P Carter; Sau Wai Cheung; Claire Langston; Charles Shaw-Smith
Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations.
American journal of human genetics 2009;84(6):780-91.
2009: Carla S D'Angelo; Marzena Gajecka; Chong A Kim; Andrew Gentles; Caron D Glotzbach; Lisa Shaffer; Célia P Koiffmann
Further delineation of nonhomologous-based recombination and evidence for subtelomeric segmental duplications in 1p36 rearrangements.
Human genetics 2009;125(5-6):551-63.
2009: Sara Anne Adams; Justine Coppinger; Sulagna C Saitta; Tracy Stroud; Manikum Kandamurugu; Zheng Fan; Blake C Ballif; Lisa Shaffer; Bassem A Bejjani
Impact of genotype-first diagnosis: the detection of microdeletion and microduplication syndromes with cancer predisposition by aCGH.
Genetics in medicine : official journal of the American College of Medical Genetics 2009;11(5):314-22.
2009: Aaron Theisen; Jill A Rosenfeld; Sandra A Farrell; Catharine J Harris; Heather H Wetzel; Beth A Torchia; Bassem A Bejjani; Blake C Ballif; Lisa Shaffer
aCGH detects partial tetrasomy of 12p in blood from Pallister-Killian syndrome cases without invasive skin biopsy.
American journal of medical genetics. Part A 2009;149A(5):914-8.
2009: Justine Coppinger; Donna McDonald-McGinn; Elaine Zackai; Kate Shane; Joan F Atkin; Alexander Asamoah; Robert Leland; David D Weaver; Susan C Lansky-Shafer; Karen Schmidt; Heidi Feldman; William Cohen; Judy Phalin; Berkley Powell; Blake C Ballif; Aaron Theisen; Elizabeth Geiger; Chad Haldeman-Englert; Tamim H Shaikh; Sulagna Saitta; Bassem A Bejjani; Lisa Shaffer
Identification of familial and de novo microduplications of 22q11.21-q11.23 distal to the 22q11.21 microdeletion syndrome region.
Human molecular genetics 2009;18(8):1377-83.
2009: Arthur R Brothman; D L Persons; Lisa Shaffer
Nomenclature evolution: Changes in the ISCN from the 2005 to the 2009 edition.
Cytogenetic and genome research 2009;127(1):1-4.
2009: Jill A Rosenfeld; Blake C Ballif; Ann Lucas; Edward J Spence; CM Powell; Arthur S Aylsworth; Beth A Torchia; Lisa Shaffer
Small deletions of SATB2 cause some of the clinical features of the 2q33.1 microdeletion syndrome.
PloS one 2009;4(8):e6568.
2009: Ryan N Traylor; Zheng Fan; Beth Hudson; Jill A Rosenfeld; Lisa Shaffer; Beth S Torchia; Blake C Ballif
Microdeletion of 6q16.1 encompassing EPHA7 in a child with mild neurological abnormalities and dysmorphic features: case report.
Molecular cytogenetics 2009;2():17.
2009: Roland Haj; Kelly Jackson; Beth A Torchia; Lisa Shaffer; Bassem A Bejjani; Gordon C Gowans; Michael W Ruff
Identification of a rare de novo three-way complex t(5;20;8)(q31;p11.2;p21) with microdeletions on 5q31.2, 5q31.3, and 8p23.2 in a patient with hearing loss and global developmental delay: case report.
Molecular cytogenetics 2009;2():2.
2008: Myriam Srour; Bassam A Bejjani; Emily A Rorem; Nicholas Hall; Lisa Shaffer; Michael I Shevell
An instructive case of an 8-year-old boy with intellectual disability.
Seminars in pediatric neurology 2008;15(4):154-5; discussion 155-6.
2008: Philippe Campeau; Nicholas Ah Mew; Lola Cartier; Katherine L Mackay; Lisa Shaffer; Vazken M Der Kaloustian; Mary Ann Thomas
Prenatal diagnosis of monosomy 1p36: a focus on brain abnormalities and a review of the literature.
American journal of medical genetics. Part A 2008;146A(23):3062-9.
2008: Marzena Gajecka; Reem Saadeh; Katherine L Mackay; Caron D Glotzbach; Krystyna Spodar; David Chitayat; Lisa Shaffer
Clinical and molecular cytogenetic characterization of four patients with unbalanced translocation der(1)t(1;22)(p36;q13).
American journal of medical genetics. Part A 2008;146A(21):2777-84.
2008: Emily Chen; Elise Obolensky; Katherine A Rauen; Lisa Shaffer; Xu Li
Cytogenetic and array CGH characterization of de novo 1p36 duplications and deletion in a patient with congenital cataracts, hearing loss, choanal atresia, and mental retardation.
American journal of medical genetics. Part A 2008;146A(21):2785-90.
2008: B C Ballif; Aaron Theisen; D M McDonald-McGinn; E H Zackai; J H Hersh; B A Bejjani; Lisa Shaffer
Identification of a previously unrecognized microdeletion syndrome of 16q11.2q12.2.
Clinical genetics 2008;74(5):469-75.
2008: Marzena Gajecka; Andrew Gentles; Albert Tsai; David Chitayat; Katherine L Mackay; Caron D Glotzbach; Michael R Lieber; Lisa Shaffer
Unexpected complexity at breakpoint junctions in phenotypically normal individuals and mechanisms involved in generating balanced translocations t(1;22)(p36;q13).
Genome research 2008;18(11):1733-42.
2008: M I Shevell; B A Bejjani; Myriam Srour; E A Rorem; N Hall; Lisa Shaffer
Array comparative genomic hybridization in global developmental delay.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2008;147B(7):1101-8.
2008: Prakesh S Shah; Prashanth Murthy; David Skidmore; Lisa Shaffer; Bassem A Bejjani; David Chitayat
Williams syndrome in a preterm infant with phenotype of Alagille syndrome.
American journal of medical genetics. Part A 2008;146A(18):2407-11.
2008: Lisa Shaffer; Justine Coppinger; Sarah Alliman; Beth A Torchia; Aaron Theisen; Blake C Ballif; Bassem A Bejjani
Comparison of microarray-based detection rates for cytogenetic abnormalities in prenatal and neonatal specimens.
Prenatal diagnosis 2008;28(9):789-95.
2008: M M Suhoski; E E Perez; M L Heltzer; A Laney; Lisa Shaffer; S Saitta; S Nachman; Nancy B Spinner; Carl H June; Jordan S Orange
Monosomy 1p36 uncovers a role for OX40 in survival of activated CD4+ T cells.
Clinical immunology (Orlando, Fla.) 2008;128(2):181-9.
2008: William B Dobyns; Ghayda Mirzaa; Susan L Christian; Kristin Petras; Jessica Roseberry; Gary D Clark; Cynthia J R Curry; Donna McDonald-McGinn; Livija Medne; Elaine Zackai; Julie Parsons; Dina J Zand; Fuki M Hisama; Christopher Walsh; Richard J Leventer; Christa Lese Martin; Marzena Gajecka; Lisa Shaffer
Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2.
American journal of medical genetics. Part A 2008;146A(13):1637-54.
2008: Bassem A Bejjani; Lisa Shaffer
Clinical utility of contemporary molecular cytogenetics.
Annual review of genomics and human genetics 2008;9():71-86.
2008: Yuri B Yurov; Thomas Liehr; Lisa Shaffer; Ivan Y Iourov; Svetlana G Vorsanova
A new open access journal for a rapidly evolving biomedical field: introducing Molecular Cytogenetics.
Molecular cytogenetics 2008;1():1.
2008: Blake C Ballif; Aaron Theisen; Justine Coppinger; Gordon C Gowans; Joseph H Hersh; Suneeta Madan-Khetarpal; Karen R Schmidt; Raymond Tervo; Luis F Escobar; Christopher A Friedrich; Marie McDonald; Lindsey Campbell; Jeffrey E Ming; Elaine H Zackai; Bassem A Bejjani; Lisa Shaffer
Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication.
Molecular cytogenetics 2008;1():8.
2008: Catherine D Kashork; Aaron Theisen; Lisa Shaffer
Prenatal diagnosis using array CGH.
Methods in molecular biology (Clifton, N.J.) 2008;444():59-69.
2008: Yong-Hui Jiang; Kekio Wauki; Qian Liu; Jan Bressler; Yanzhen Pan; Catherine D Kashork; Lisa Shaffer; Arthur L Beaudet
Genomic analysis of the chromosome 15q11-q13 Prader-Willi syndrome region and characterization of transcripts for GOLGA8E and WHCD1L1 from the proximal breakpoint region.
BMC genomics 2008;9():50.
2008: Kwang-Sook Woo; Kyung-Soo Sung; Ki-Uk Kim; Lisa Shaffer; Jin-Yeong Han
Characterization of complex chromosome aberrations in a recurrent meningioma combining standard cytogenetic and array comparative genomic hybridization techniques.
Cancer genetics and cytogenetics 2008;180(1):56-9.
2007: Marzena Gajecka; Katherine L Mackay; Lisa Shaffer
Monosomy 1p36 deletion syndrome.
American journal of medical genetics. Part C, Seminars in medical genetics 2007;145C(4):346-56.
2007: Lisa Shaffer; Bassem A Bejjani; Beth Torchia; Susan Kirkpatrick; Justine Coppinger; Blake C Ballif
The identification of microdeletion syndromes and other chromosome abnormalities: cytogenetic methods of the past, new technologies for the future.
American journal of medical genetics. Part C, Seminars in medical genetics 2007;145C(4):335-45.
2007: Lisa Shaffer; Arthur L Beaudet; Arthur R Brothman; Betsy Hirsch; Brynn Levy; Christa Lese Martin; James T Mascarello; Kathleen W Rao
Microarray analysis for constitutional cytogenetic abnormalities.
Genetics in medicine : official journal of the American College of Medical Genetics 2007;9(9):654-62.
2007: Lisa Shaffer; Aaron Theisen; Bassem A Bejjani; Blake C Ballif; Arthur S Aylsworth; Cynthia Lim; Marie McDonald; Jay W Ellison; Dana Kostiner; Sulagna C Saitta; Tamim H Shaikh
The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome.
Genetics in medicine : official journal of the American College of Medical Genetics 2007;9(9):607-16.
2007: Blake C Ballif; Sara A Hornor; Elizabeth Jenkins; Suneeta Madan-Khetarpal; Urvashi Surti; Kelly E Jackson; Alexander Asamoah; Pamela L Brock; Gordon C Gowans; Robert L Conway; John M Graham; Livija Medne; Elaine H Zackai; Tamim H Shaikh; Joel Geoghegan; Rebecca R Selzer; Peggy S Eis; Bassem A Bejjani; Lisa Shaffer
Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2.
Nature genetics 2007;39(9):1071-3.
2007: Blake C Ballif; Scott G Sulpizio; Richard M Lloyd; Sara L Minier; Aaron Theisen; Bassem A Bejjani; Lisa Shaffer
The clinical utility of enhanced subtelomeric coverage in array CGH.
American journal of medical genetics. Part A 2007;143A(16):1850-7.
2007: Lynda J Campbell; Marilyn L Slovak; Lisa Shaffer
Comments on editorial entitled "ISCN (2005) is not acceptable for describing clonal evolution in cancer".
Genes, chromosomes & cancer 2007;46(5):514-5; author reply 516.
2007: Blake C Ballif; Sara A Hornor; Scott G Sulpizio; Richard M Lloyd; Sara L Minier; Emily A Rorem; Aaron Theisen; Bassem A Bejjani; Lisa Shaffer
Development of a high-density pericentromeric region BAC clone set for the detection and characterization of small supernumerary marker chromosomes by array CGH.
Genetics in medicine : official journal of the American College of Medical Genetics 2007;9(3):150-62.
2007: Malgorzata Jarmuz; Caron D Glotzbach; Kristen A Bailey; Ruma Bandyopadhyay; Lisa Shaffer
The Evolution of satellite III DNA subfamilies among primates.
American journal of human genetics 2007;80(3):495-501.
2007: Lisa Shaffer; The-Hung Bui
Molecular cytogenetic and rapid aneuploidy detection methods in prenatal diagnosis.
American journal of medical genetics. Part C, Seminars in medical genetics 2007;145C(1):87-98.
2006: Blake C Ballif; Emily A Rorem; Kyle Sundin; Matt Lincicum; Shannon Gaskin; Justine Coppinger; Catherine D Kashork; Lisa Shaffer; Bassem A Bejjani
Detection of low-level mosaicism by array CGH in routine diagnostic specimens.
American journal of medical genetics. Part A 2006;140(24):2757-67.
2006: Marzena Gajecka; Caron D Glotzbach; Malgorzata Jarmuz; Blake C Ballif; Lisa Shaffer
Identification of cryptic imbalance in phenotypically normal and abnormal translocation carriers.
European journal of human genetics : EJHG 2006;14(12):1255-62.
2006: Bassem A Bejjani; Lisa Shaffer
Application of array-based comparative genomic hybridization to clinical diagnostics.
The Journal of molecular diagnostics : JMD 2006;8(5):528-33.
2006: J S Biggerstaff; W Liu; Marilyn L Slovak; Dolores Bobadilla; E Bryant; C Glotzbach; Lisa Shaffer
A dual-color FISH assay distinguishes between ELL and MLLT1 (ENL) gene rearrangements in t(11;19)-positive acute leukemia.
Leukemia 2006;20(11):2046-50.
2006: Marzena Gajecka; Adam Pavlicek; Caron D Glotzbach; Blake C Ballif; Malgorzata Jarmuz; Jerzy Jurka; Lisa Shaffer
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.
Human genetics 2006;120(4):519-26.
2006: Hagit Baris; Bassem A Bejjani; Wen-Hann Tan; David L Coulter; Judith A Martin; Andrea L Storm; Barbara K Burton; Sulagna C Saitta; Marzena Gajecka; Blake C Ballif; Mira Irons; Lisa Shaffer; Virginia E Kimonis
Identification of a novel polymorphism--the duplication of the NPHP1 (nephronophthisis 1) gene.
American journal of medical genetics. Part A 2006;140A(17):1876-9.
2006: Zhishuo Ou; Malgorzata Jarmuz; Steven P Sparagana; Jacques Michaud; Jean-Claude Décarie; Svetlana A Yatsenko; Beata Nowakowska; Patti Furman; Chad A Shaw; Lisa Shaffer; James R Lupski; A Craig Chinault; Sau Wai Cheung; Pawel Stankiewicz
Evidence for involvement of TRE-2 (USP6) oncogene, low-copy repeat and acrocentric heterochromatin in two families with chromosomal translocations.
Human genetics 2006;120(2):227-37.
2006: Lisa Shaffer; Catherine D Kashork; Reza Saleki; Emily A Rorem; Kyle Sundin; Blake C Ballif; Bassem A Bejjani
Targeted genomic microarray analysis for identification of chromosome abnormalities in 1500 consecutive clinical cases.
The Journal of pediatrics 2006;149(1):98-102.
2006: Lisa Shaffer
Risk estimates for uniparental disomy following prenatal detection of a nonhomologous Robertsonian translocation.
Prenatal diagnosis 2006;26(4):303-7.
2006: Blake C Ballif; Catherine D Kashork; Reza Saleki; Emily A Rorem; Kyle Sundin; Bassem A Bejjani; Lisa Shaffer
Detecting sex chromosome anomalies and common triploidies in products of conception by array-based comparative genomic hybridization.
Prenatal diagnosis 2006;26(4):333-9.
2006: Lisa Shaffer; Bassem A Bejjani
Medical applications of array CGH and the transformation of clinical cytogenetics.
Cytogenetic and genome research 2006;115(3-4):303-9.
2006: Malgorzata Jarmuz; Blake C Ballif; Catherine D Kashork; Aaron Theisen; Bassem A Bejjani; Lisa Shaffer
Comparative genomic hybridization by microarray for the detection of cytogenetic imbalance.
Methods in molecular medicine 2006;128():23-31.
2006: Malgorzata Jarmuz; Lisa Shaffer
Cytogenetic analysis of cardiovascular disease: karyotyping.
Methods in molecular medicine 2006;128():1-9.
2006: Catherine D Kashork; Aaron Theisen; Bassem A Bejjani; Lisa Shaffer
Rearrangements of chromosome 18 illustrate the utility of array-based comparative genomic hybridization.
Cytogenetic and genome research 2006;114(3-4):379-83.
2006: Jin-Yeong Han; Ji-Hyun Shin; Myong-Seok Han; Goo-Hwa Je; Lisa Shaffer
Microarray detection of a de novo der(X)t(X;11)(q28;p13) in a girl with premature ovarian failure and features of Beckwith-Wiedemann syndrome.
Journal of human genetics 2006;51(7):641-3.
2006: Marzena Gajecka; Caron D Glotzbach; Lisa Shaffer
Characterization of a complex rearrangement with interstitial deletions and inversion on human chromosome 1.
Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology 2006;14(3):277-82.
2005: Lisa Shaffer
American College of Medical Genetics guideline on the cytogenetic evaluation of the individual with developmental delay or mental retardation.
Genetics in medicine : official journal of the American College of Medical Genetics 2005;7(9):650-4.
2005: Bassem A Bejjani; Aaron Theisen; Blake C Ballif; Lisa Shaffer
Array-based comparative genomic hybridization in clinical diagnosis.
Expert review of molecular diagnostics 2005;5(3):421-9.
2005: Keiko Wakui; Giuliana Gregato; Blake C Ballif; Caron D Glotzbach; Kristen A Bailey; Pao-Lin Kuo; Whey-Chen Sue; Leslie J Sheffield; Mira Irons; Enrique G Gomez; Jacqueline T Hecht; Lorraine Potocki; Lisa Shaffer
Construction of a natural panel of 11p11.2 deletions and further delineation of the critical region involved in Potocki-Shaffer syndrome.
European journal of human genetics : EJHG 2005;13(5):528-40.
2005: Twila M Yobb; Martin J Somerville; Lionel Willatt; Helen V Firth; Karen Harrison; Jennifer MacKenzie; Natasha Gallo; Bernice E Morrow; Lisa Shaffer; Melanie Babcock; Judy Chernos; Francois P Bernier; Kathleen A Sprysak; Jesse Christiansen; Shelagh Haase; Basil Elyas; Margaret Lilley; Steven Bamforth; Heather E McDermid
Microduplication and triplication of 22q11.2: a highly variable syndrome.
American journal of human genetics 2005;76(5):865-76.
2005: Bassem A Bejjani; Reza Saleki; Blake C Ballif; Emily A Rorem; Kyle Sundin; Aaron Theisen; Catherine D Kashork; Lisa Shaffer
Use of targeted array-based CGH for the clinical diagnosis of chromosomal imbalance: is less more?
American journal of medical genetics. Part A 2005;134(3):259-67.
2005: Louise Chuang; Keiko Wakui; Whey-Chen Sue; Mei-Hsu Su; Lisa Shaffer; Pao-Lin Kuo
Interstitial deletion 11(p11.12p11.2) and analphoid marker formation results in inherited Potocki-Shaffer syndrome.
American journal of medical genetics. Part A 2005;133A(2):180-3.
2005: Marzena Gajecka; Wei Yu; Blake C Ballif; Caron D Glotzbach; Kristen A Bailey; Chad A Shaw; Catherine D Kashork; Heidi A Heilstedt; David A Ansel; Aaron Theisen; Ritva Rice; David P C Rice; Lisa Shaffer
Delineation of mechanisms and regions of dosage imbalance in complex rearrangements of 1p36 leads to a putative gene for regulation of cranial suture closure.
European journal of human genetics : EJHG 2005;13(2):139-49.
2005: Alberto L Rosa; Yuan-Qing Wu; Bernard Kwabi-Addo; Karen J Coveler; V Reid Sutton; Lisa Shaffer
Allele-specific methylation of a functional CTCF binding site upstream of MEG3 in the human imprinted domain of 14q32.
Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology 2005;13(8):809-18.
2005: Marta S Gallego; Gabriela Zelaya; Aurora S Feliu; Liliana Rossetti; Lisa Shaffer; Kristen A Bailey; Carlos A Bacino; Cristina Z Barreiro
ATR-16 due to a de novo complex rearrangement of chromosome 16.
Hemoglobin 2005;29(2):141-50.
2005: Roberto Mendoza-Londono; Catherine D Kashork; Lisa Shaffer; Robert A Krance; Sharon E Plon
Acute lymphoblastic leukemia in a patient with Greig cephalopolysyndactyly and interstitial deletion of chromosome 7 del(7)(p11.2 p14) involving the GLI3 and ZNFN1A1 genes.
Genes, chromosomes & cancer 2005;42(1):82-6.
2004: Jin-Yeong Han; K H Kim; H J Jun; Goo-Hwa Je; C D Glotzbach; Lisa Shaffer
Partial trisomy of chromosome 10(q22-q24) due to maternal insertional translocation (15;10).
American journal of medical genetics. Part A 2004;131(2):190-3.
2004: Yong-Hui Jiang; Trilochan Sahoo; Ron C Michaelis; Dani Bercovich; Jan Bressler; Catherine D Kashork; Qian Liu; Lisa Shaffer; Richard J Schroer; David Wayne Stockton; Richard S Spielman; Roger E Stevenson; Arthur L Beaudet
A mixed epigenetic/genetic model for oligogenic inheritance of autism with a limited role for UBE3A.
American journal of medical genetics. Part A 2004;131(1):1-10.
2004: Carlos A Bacino; Farideh Z Bischoff; Lisa Shaffer
Re: Familial cryptic translocation (2;17) ascertained through recurrent spontaneous abortions: Bruyere H, Rajcan-Separovic E, Doyle J, Pantzar T, Langlois S.
American journal of medical genetics. Part A 2004;130A(4):439-40.
2004: Lisa Shaffer; Bassem A Bejjani
A cytogeneticist's perspective on genomic microarrays.
Human reproduction update 2004;10(3):221-6.
2004: M Fran Lynch; Caraciolo J Fernandes; Lisa Shaffer; Lorraine Potocki
Trisomy 14 mosaicism: a case report and review of the literature.
Journal of perinatology : official journal of the California Perinatal Association 2004;24(2):121-3.
2004: Philip F Giampietro; Deepti Babu; Monica A Koehn; Daniel M Jacobson; Karla A Mueller-Schrader; Cara Moretti; Stella F Patten; Lisa Shaffer; Robert J Gorlin; William B Dobyns
New syndrome: focal dermal hypoplasia, morning glory anomaly, and polymicrogyria.
American journal of medical genetics. Part A 2004;124A(2):202-8.
2004: Blake C Ballif; Marzena Gajecka; Lisa Shaffer
Monosomy 1p36 breakpoints indicate repetitive DNA sequence elements may be involved in generating and/or stabilizing some terminal deletions.
Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology 2004;12(2):133-41.
2004: Blake C Ballif; Keiko Wakui; Marzena Gajecka; Lisa Shaffer
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.
Human genetics 2004;114(2):198-206.
2003: Melanie Babcock; Adam Pavlicek; Elizabeth Spiteri; Catherine D Kashork; Ilya P Ioshikhes; Lisa Shaffer; Jerzy Jurka; Bernice E Morrow
Shuffling of genes within low-copy repeats on 22q11 (LCR22) by Alu-mediated recombination events during evolution.
Genome research 2003;13(12):2519-32.
2003: Svetlana A Yatsenko; Roberto Mendoza-Londono; John W Belmont; Lisa Shaffer
Omphalocele in trisomy 3q: further delineation of phenotype.
Clinical genetics 2003;64(5):404-13.
2003: Heidi A Heilstedt; Blake C Ballif; Leslie A Howard; Catherine D Kashork; Lisa Shaffer
Population data suggest that deletions of 1p36 are a relatively common chromosome abnormality.
Clinical genetics 2003;64(4):310-6.
2003: V Reid Sutton; William H McAlister; Terry K Bertin; Sara Kaffe; Jin-Chen C Wang; Shoji Yano; Lisa Shaffer; Brendan Lee; Charles J Epstein; Angela J Villar
Skeletal defects in paternal uniparental disomy for chromosome 14 are re-capitulated in the mouse model (paternal uniparental disomy 12).
Human genetics 2003;113(5):447-51.
2003: Blake C Ballif; Wei Yu; Chad A Shaw; Catherine D Kashork; Lisa Shaffer
Monosomy 1p36 breakpoint junctions suggest pre-meiotic breakage-fusion-bridge cycles are involved in generating terminal deletions.
Human molecular genetics 2003;12(17):2153-65.
2003: Wei Yu; Blake C Ballif; Catherine D Kashork; Heidi A Heilstedt; Leslie A Howard; Wei-Wen Cai; Lisa D White; Wenbin Liu; Arthur L Beaudet; Bassem A Bejjani; Chad A Shaw; Lisa Shaffer
Development of a comparative genomic hybridization microarray and demonstration of its utility with 25 well-characterized 1p36 deletions.
Human molecular genetics 2003;12(17):2145-52.
2003: Natalia V Kovaleva; Lisa Shaffer
Under-ascertainment of mosaic carriers of balanced homologous acrocentric translocations and isochromosomes.
American journal of medical genetics. Part A 2003;121A(2):180-7.
2003: Elizabeth Spiteri; Melanie Babcock; Catherine D Kashork; Keiko Wakui; Swarna Gogineni; Debbie A Lewis; Kisa M Williams; Shinsei Minoshima; Takashi Sasaki; Nobuyoshi Shimizu; Lorraine Potocki; Venkat Pulijaal; Alan L Shanske; Lisa Shaffer; Bernice E Morrow
Frequent translocations occur between low copy repeats on chromosome 22q11.2 (LCR22s) and telomeric bands of partner chromosomes.
Human molecular genetics 2003;12(15):1823-37.
2003: Susan Murphy; Andrew A Wylie; Karen J Coveler; Philip D Cotter; Peter Papenhausen; V Reid Sutton; Lisa Shaffer; Randy L Jirtle
Epigenetic detection of human chromosome 14 uniparental disomy.
Human mutation 2003;22(1):92-7.
2003: Stephen W Scherer; Joseph Cheung; Jeffrey R MacDonald; Lucy Osborne; Kazuhiko Nakabayashi; Jo-Anne Herbrick; Andrew R Carson; Layla Parker-Katiraee; Jennifer Skaug; Razi Khaja; Junjun Zhang; Alexander K Hudek; Martin Li; May Haddad; Gavin E Duggan; Bridget A Fernandez; Emiko Kanematsu; Simone Gentles; Constantine C Christopoulos; Sanaa Choufani; Dorota Kwasnicka; Xiangqun H Zheng; Zhongwu Lai; Deborah Nusskern; Qing Zhang; Zhiping Gu; Fu Lu; Susan Zeesman; Malgorzata J Nowaczyk; Ikuko Teshima; David Chitayat; Cheryl Shuman; Rosanna Weksberg; Elaine H Zackai; Theresa A Grebe; Sarah R Cox; Susan J Kirkpatrick; Nazneen Rahman; Jan M Friedman; Hong-Qiang Heng; Pier Giuseppe Pelicci; Francesco Lo-Coco; Elena Belloni; Lisa Shaffer; Barbara Pober; Cynthia C Morton; James Gusella; Gail A P Bruns; Bruce Korf; Bradley J Quade; Azra H Ligon; Heather Ferguson; Anne W Higgins; Natalia T Leach; Steven R Herrick; Emmanuelle Lemyre; Chantal G Farra; Hyung-Goo Kim; Anne M Summers; Karen W Gripp; Wendy Roberts; Peter Szatmari; Elizabeth J T Winsor; Karl-Heinz Grzeschik; Ahmed Teebi; Berge A Minassian; Juha Kere; Lluis Armengol; Miguel Angel Pujana; Xavier Estivill; Michael D Wilson; Ben F Koop; Sabrina Tosi; Gudrun E Moore; Andrew P Boright; Eitan Zlotorynski; Batsheva Kerem; Peter M Kroisel; Erwin Petek; David G Oscier; Sarah J Mould; Hartmut Döhner; Konstanze Döhner; Johanna M Rommens; John B Vincent; J Craig Venter; Peter W Li; Richard J Mural; Mark D Adams; Lap-Chee Tsui
Human chromosome 7: DNA sequence and biology.
Science (New York, N.Y.) 2003;300(5620):767-72.
2003: Heidi A Heilstedt; Blake C Ballif; Leslie A Howard; Richard A Lewis; Samuel Stal; Catherine D Kashork; Carlos A Bacino; Stuart K Shapira; Lisa Shaffer
Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the syndrome.
American journal of human genetics 2003;72(5):1200-12.
2003: Pawel Stankiewicz; Christine J Shaw; Jason D Dapper; Keiko Wakui; Lisa Shaffer; Marjorie Withers; Leah Elizondo; Sung Sup Park; James R Lupski
Genome architecture catalyzes nonrecurrent chromosomal rearrangements.
American journal of human genetics 2003;72(5):1101-16.
2003: Qing Wang; Yanghong Gu; James M Ferguson; Qiuyun Chen; Scott Boatwright; James Gardiner; Cheryl Below; Janna Espinosa; David L Nelson; Lisa Shaffer
Cytogenetic analysis of obsessive-compulsive disorder (OCD): identification of a FRAXE fragile site.
American journal of medical genetics. Part A 2003;118A(1):25-8.
2003: Karen J Coveler; V Reid Sutton; C Knox-DuBois; Lisa Shaffer
Comprehensive microsatellite marker analysis contradicts previous report of segmental maternal heterodisomy of chromosome 14.
Journal of medical genetics 2003;40(3):e26.
2003: Sue Ann Berend; Scott L Page; William Atkinson; Christopher McCaskill; Neil E Lamb; Stephanie L Sherman; Lisa Shaffer
Obligate short-arm exchange in de novo Robertsonian translocation formation influences placement of crossovers in chromosome 21 nondisjunction.
American journal of human genetics 2003;72(2):488-95.
2003: Ruma Bandyopadhyay; Christopher McCaskill; Cami Knox-Du Bois; Yaolin Zhou; Sue Ann Berend; Emilia Bijlsma; Lisa Shaffer
Mosaicism in a patient with Down syndrome reveals post-fertilization formation of a Robertsonian translocation and isochromosome.
American journal of medical genetics. Part A 2003;116A(2):159-63.
2003: Mansoor S Mohammed; Lisa Shaffer
Fluorescence in situ hybridization (FISH) for identifying the genomic rearrangements associated with three myelinopathies. Charcot-Marie-Tooth disease, hereditary neuropathy with liability to pressure palsies, and Pelizaeus-Merzbacher disease.
Methods in molecular biology (Clifton, N.J.) 2003;217():219-38.
2002: Ruma Bandyopadhyay; Anita Heller; Cami Knox-DuBois; Christopher McCaskill; Sue Ann Berend; Scott L Page; Lisa Shaffer
Parental origin and timing of de novo Robertsonian translocation formation.
American journal of human genetics 2002;71(6):1456-62.
2002: Catherine D Kashork; V Reid Sutton; Jill S Fonda Allen; Deborah E Schmidt; Marisa L Likhite; Lorraine Potocki; William E O'Brien; Lisa Shaffer
Low or absent unconjugated estriol in pregnancy: an indicator for steroid sulfatase deficiency detectable by fluorescence in situ hybridization and biochemical analysis.
Prenatal diagnosis 2002;22(11):1028-32.
2002: Ken Inoue; Hitoshi Osaka; Virginia C Thurston; Joe T R Clarke; Akira Yoneyama; Lisa Rosenbarker; Thomas D Bird; ME Hodes; Lisa Shaffer; James R Lupski
Genomic rearrangements resulting in PLP1 deletion occur by nonhomologous end joining and cause different dysmyelinating phenotypes in males and females.
American journal of human genetics 2002;71(4):838-53.
2002: V Reid Sutton; Karen J Coveler; Seema R Lalani; Catherine D Kashork; Lisa Shaffer
Subtelomeric FISH uncovers trisomy 14q32: lessons for imprinted regions, cryptic rearrangements and variant acrocentric short arms.
American journal of medical genetics 2002;112(1):23-7.
2002: Alka Saxena; Lee H Wong; Paul Kalitsis; Elizabeth Earle; Lisa Shaffer; K H Andy Choo
Poly(ADP-ribose) polymerase 2 localizes to mammalian active centromeres and interacts with PARP-1, Cenpa, Cenpb and Bub3, but not Cenpc.
Human molecular genetics 2002;11(19):2319-29.
2002: Sue Ann Berend; Bassem A Bejjani; Christopher McCaskill; Lisa Shaffer
Identification of uniparental disomy in phenotypically abnormal carriers of isochromosomes or Robertsonian translocations.
American journal of medical genetics 2002;111(4):362-5.
2002: Sue Ann Berend; Olaf Bodamer; Stuart K Shapira; Lisa Shaffer; Carlos A Bacino
Familial complex chromosomal rearrangement resulting in a recombinant chromosome.
American journal of medical genetics 2002;109(4):311-7.
2002: Weimin Bi; Jiong Yan; Pawel Stankiewicz; Sung Sup Park; Katherina Walz; Cornelius F Boerkoel; Lorraine Potocki; Lisa Shaffer; koenraad devriendt; Magorzata J M Nowaczyk; Ken Inoue; James R Lupski
Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse.
Genome research 2002;12(5):713-28.
2002: Yuan-Qing Wu; Bassem A Bejjani; Lap-Chee Tsui; Ariane Mandel; Lucy Osborne; Lisa Shaffer
Refinement of the genomic structure of STX1A and mutation analysis in nondeletion Williams syndrome patients.
American journal of medical genetics 2002;109(2):121-4.
2002: Parimal Das; David Wayne Stockton; Christopher Bauer; Lisa Shaffer; Rena N D'Souza; TimothyJ Wright; Pragna I Patel
Haploinsufficiency of PAX9 is associated with autosomal dominant hypodontia.
Human genetics 2002;110(4):371-6.
2002: Karen J Coveler; Sam P Yang; ReidV Sutton; Jay M Milstein; Yuan-Qing Wu; Knox-Du Bois; Linda S Beischel; John P Johnson; Lisa Shaffer
A case of segmental paternal isodisomy of chromosome 14.
Human genetics 2002;110(3):251-6.
2002: André Mégarbané; Bassem A Bejjani; Lisa Shaffer; Sélim Jambart; Noëlle Souraty; Catherine D Kashork; Martine Le Merrer
Craniofacial anomalies, deafness, brachydactyly, short stature, and moderate mental retardation due to a cryptic 6p;11q translocation.
American journal of medical genetics 2002;108(1):69-74.
2002: Kathryn D McGowan; Joseph J Weiser; Juli Horwitz; Sue Ann Berend; Christopher McCaskill; V Reid Sutton; Lisa Shaffer
The importance of investigating for uniparental disomy in prenatally identified balanced acrocentric rearrangements.
Prenatal diagnosis 2002;22(2):141-3.
2002: Sung-Ryul Kim; Lisa Shaffer
Robertsonian translocations: mechanisms of formation, aneuploidy, and uniparental disomy and diagnostic considerations.
Genetic testing 2002;6(3):163-8.
2002: Clemencia Colmenares; Heidi A Heilstedt; Lisa Shaffer; Stuart Schwartz; Michael Berk; Jeffrey C Murray; Ed Stavnezer
Loss of the SKI proto-oncogene in individuals affected with 1p36 deletion syndrome is predicted by strain-dependent defects in Ski-/- mice.
Nature genetics 2002;30(1):106-9.
2001: Ken Inoue; M Kanai; Y Tanabe; T Kubota; Catherine D Kashork; Keiko Wakui; Y Fukushima; James R Lupski; Lisa Shaffer
Prenatal interphase FISH diagnosis of PLP1 duplication associated with Pelizaeus-Merzbacher disease.
Prenatal diagnosis 2001;21(13):1133-6.
2001: Lisa Shaffer; Heidi A Heilstedt
Terminal deletion of 1p36.
Lancet 2001;358 Suppl():S9.
2001: Ken Inoue; H Tanaka; Fernando Scaglia; A Araki; Lisa Shaffer; James R Lupski
Compensating for central nervous system dysmyelination: females with a proteolipid protein gene duplication and sustained clinical improvement.
Annals of neurology 2001;50(6):747-54.
2001: Sue Kenwrick; Hayley Woffendin; Tracy J Jakins; S G Shuttleworth; E Mayer; L Greenhalgh; J Whittaker; S Rugolotto; Tiziana Bardaro; Teresa Esposito; Michele D'Urso; F Soli; A Turco; Asma Smahi; Dominique Hamel-Teillac; Stanislas LYONNET; Jean-Paul Bonnefont; Arnold Munnich; Swaroop Aradhya; C D Kashork; Lisa Shaffer; David L Nelson; M Levy; R A Lewis
Survival of male patients with incontinentia pigmenti carrying a lethal mutation can be explained by somatic mosaicism or Klinefelter syndrome.
American journal of human genetics 2001;69(6):1210-7.
2001: Catherine R Hall; Y Wu; Lisa Shaffer; Jacqueline T Hecht
Familial case of Potocki-Shaffer syndrome associated with microdeletion of EXT2 and ALX4.
Clinical genetics 2001;60(5):356-9.
2001: Pawel Stankiewicz; S S Parka; S E Holder; C S Waters; R W Palmer; Sue Ann Berend; Lisa Shaffer; Lorraine Potocki; James R Lupski
Trisomy 17p10-p12 resulting from a supernumerary marker chromosome derived from chromosome 17: molecular analysis and delineation of the phenotype.
Clinical genetics 2001;60(5):336-44.
2001: David Wayne Stockton; Ricardo Meade; David T Netscher; M J Epstein; Saleh M Shenaq; Lisa Shaffer; James R Lupski
Hereditary neuropathy with liability to pressure palsies is not a major cause of idiopathic carpal tunnel syndrome.
Archives of neurology 2001;58(10):1635-7.
2001: Heidi A Heilstedt; Daniel L Burgess; Anne E Anderson; A Chedrawi; Barbara Z Tharp; O Lee; Catherine D Kashork; D E Starkey; YQ Wu; Jeffrey L Noebels; Lisa Shaffer; Stuart K Shapira
Loss of the potassium channel beta-subunit gene, KCNAB2, is associated with epilepsy in patients with 1p36 deletion syndrome.
Epilepsia 2001;42(9):1103-11.
2001: Dena Towner; S P Yang; Lisa Shaffer
Prenatal ultrasound findings in a fetus with paternal uniparental disomy 14q12-qter.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2001;18(3):268-71.
2001: Debra J Abrams; A R Aronoff; S Ann Berend; B B Roa; Lisa Shaffer; Mark R Geier
Prenatal diagnosis of a homologous Robertsonian translocation involving chromosome 15.
Prenatal diagnosis 2001;21(8):676-9.
2001: Lisa Shaffer
Diagnosis of microdeletion syndromes by fluorescence in situ hybridization (FISH).
Current protocols in human genetics / editorial board, Jonathan L. Haines ... [et al.] 2001;Chapter 8():Unit 8.10.
2001: Lisa Shaffer; N Agan; J D Goldberg; David Ledbetter; J W Longshore; S B Cassidy
American College of Medical Genetics statement of diagnostic testing for uniparental disomy.
Genetics in medicine : official journal of the American College of Medical Genetics 2001;3(3):206-11.
2001: Dena Towner; Lisa Shaffer; S P Yang; D D Walgenbach
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.
Prenatal diagnosis 2001;21(5):395-8.
2001: Yuan-Qing Wu; X Lin; C M Liu; Milan Jamrich; Lisa Shaffer
Identification of a human brain-specific gene, calneuron 1, a new member of the calmodulin superfamily.
Molecular genetics and metabolism 2001;72(4):343-50.
2001: L Edelmann; Pawel Stankiewicz; Elizabeth Spiteri; RK Pandita; Lisa Shaffer; James R Lupski; Bernice E Morrow; J Lupski
Two functional copies of the DGCR6 gene are present on human chromosome 22q11 due to a duplication of an ancestral locus.
Genome research 2001;11(2):208-17.
2001: Ruma Bandyopadhyay; Sue Ann Berend; Scott L Page; K H Choo; Lisa Shaffer
Satellite III sequences on 14p and their relevance to Robertsonian translocation formation.
Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology 2001;9(3):235-42.
2001: Ruma Bandyopadhyay; C McQuillan; Scott L Page; K H Choo; Lisa Shaffer
Identification and characterization of satellite III subfamilies to the acrocentric chromosomes.
Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology 2001;9(3):223-33.
2000: Blake C Ballif; Catherine D Kashork; Lisa Shaffer
The promise and pitfalls of telomere region-specific probes.
American journal of human genetics 2000;67(5):1356-9.
2000: YQ Wu; Jose L Badano; Christopher McCaskill; H Vogel; Lorraine Potocki; Lisa Shaffer
Haploinsufficiency of ALX4 as a potential cause of parietal foramina in the 11p11.2 contiguous gene-deletion syndrome.
American journal of human genetics 2000;67(5):1327-32.
2000: Blake C Ballif; Catherine D Kashork; Lisa Shaffer
FISHing for mechanisms of cytogenetically defined terminal deletions using chromosome-specific subtelomeric probes.
European journal of human genetics : EJHG 2000;8(10):764-70.
2000: Kenjiro Kosaki; R Kosaki; W P Robinson; W J Craigen; Lisa Shaffer; S Sato; N Matsuo
Diagnosis of maternal uniparental disomy of chromosome 7 with a methylation specific PCR assay.
Journal of medical genetics 2000;37(9):E19.
2000: V Reid Sutton; Lisa Shaffer
Search for imprinted regions on chromosome 14: comparison of maternal and paternal UPD cases with cases of chromosome 14 deletion.
American journal of medical genetics 2000;93(5):381-7.
2000: Duan Li; P Burch; Omar Y Gonzalez; Catherine D Kashork; Lisa Shaffer; Linda L Bachinski; Robert Roberts
Molecular cloning, expression analysis, and chromosome mapping of WDR6, a novel human WD-repeat gene.
Biochemical and biophysical research communications 2000;274(1):117-23.
2000: Robert A Britton; S M Chen; D Wallis; T Koeuth; Bradford S Powell; Lisa Shaffer; David Largaespada; Nancy A Jenkins; Neal G Copeland; Donald L Court; James R Lupski
Isolation and preliminary characterization of the human and mouse homologues of the bacterial cell cycle gene era.
Genomics 2000;67(1):78-82.
2000: Carlos A Bacino; Catherine D Kashork; Nelson A Davino; Lisa Shaffer
Detection of a cryptic translocation in a family with mental retardation using FISH and telomere region-specific probes.
American journal of medical genetics 2000;92(4):250-5.
2000: Lorraine Potocki; Daniel G Glaze; D X Tan; Sung Sup Park; Catherine D Kashork; Lisa Shaffer; Russel J Reiter; James R Lupski
Circadian rhythm abnormalities of melatonin in Smith-Magenis syndrome.
Journal of medical genetics 2000;37(6):428-33.
2000: Sue Ann Berend; J Horwitz; Christopher McCaskill; Lisa Shaffer
Identification of uniparental disomy following prenatal detection of Robertsonian translocations and isochromosomes.
American journal of human genetics 2000;66(6):1787-93.
2000: K E Atkins; Anthony Gregg; AS Spikes; Carlos A Bacino; Bassem A Bejjani; J Kirkland; Lisa Shaffer
Identification of Y chromatin directly in gonadal tissue by fluorescence in situ hybridization (FISH): significance for Ullrich-Turner syndrome screening in the cytogenetics laboratory.
American journal of medical genetics 2000;91(5):377-82.
2000: Benjamin Tubb; S Bardien-Kruger; Catherine D Kashork; Lisa Shaffer; Louis S Ramagli; Jingping Xu; Michael J Siciliano; Joseph Bryan
Characterization of human retinal fascin gene (FSCN2) at 17q25: close physical linkage of fascin and cytoplasmic actin genes.
Genomics 2000;65(2):146-56.
2000: Sue Ann Berend; AS Spikes; Catherine D Kashork; J M Wu; SC Daw; Peter J Scambler; Lisa Shaffer
Dual-probe fluorescence in situ hybridization assay for detecting deletions associated with VCFS/DiGeorge syndrome I and DiGeorge syndrome II loci.
American journal of medical genetics 2000;91(4):313-7.
2000: A H Ligon; Catherine D Kashork; Carolyn S (Sue) Richards; Lisa Shaffer
Identification of female carriers for Duchenne and Becker muscular dystrophies using a FISH-based approach.
European journal of human genetics : EJHG 2000;8(4):293-8.
2000: Fernando Scaglia; Olaf Bodamer; Sue Ann Berend; L R Adam; Lisa Shaffer
Deletion (9) (p13.1 p21.1).
American journal of medical genetics 2000;91(2):113-5.
2000: R Wallerstein; MT Yu; R L Neu; P Benn; C Lee Bowen; B Crandall; C Disteche; R Donahue; B Harrison; D Hershey; R R Higgins; L S Jenkins; C Jackson-Cook; E Keitges; G Khodr; C C Lin; F W Luthardt; L Meisner; G Mengden; S R Patil; M Rodriguez; L J Sciorra; Lisa Shaffer; Gail Stetten; Daniel L Van Dyke; H Wang
Common trisomy mosaicism diagnosed in amniocytes involving chromosomes 13, 18, 20 and 21: karyotype-phenotype correlations.
Prenatal diagnosis 2000;20(2):103-22.
2000: Elizabeth Earle; Alka Saxena; A MacDonald; DF Hudson; Lisa Shaffer; Richard Saffery; Michael Cancilla; SM Cutts; Emily Howman; K H Andy Choo
Poly(ADP-ribose) polymerase at active centromeres and neocentromeres at metaphase.
Human molecular genetics 2000;9(2):187-94.
2000: Lisa Shaffer; J R Lupski
Molecular mechanisms for constitutional chromosomal rearrangements in humans.
Annual review of genetics 2000;34():297-329.
2000: Lorraine Potocki; Ken-Shiung Chen; Sung Sup Park; D E Osterholm; Marjorie Withers; Virginia E Kimonis; A M Summers; W S Meschino; K Anyane-Yeboa; Catherine D Kashork; Lisa Shaffer; James R Lupski
Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletion.
Nature genetics 2000;24(1):84-7.
1999: Jin-Yeong Han; K H Kim; H D Lee; S Y Moon; Lisa Shaffer
De novo direct duplication of 15q15-->q24 in a newborn boy with mild manifestations.
American journal of medical genetics 1999;87(5):395-8.
1999: Y Q Wu; E Nickerson; Lisa Shaffer; K Keppler-Noreuil; A Muilenburg
A case of Williams syndrome with a large, visible cytogenetic deletion.
Journal of medical genetics 1999;36(12):928-32.
1999: L Edelmann; Elizabeth Spiteri; N McCain; R Goldberg; RK Pandita; S Duong; Joyce Fox; D Blumenthal; S R Lalani; Lisa Shaffer; Bernice E Morrow
A common breakpoint on 11q23 in carriers of the constitutional t(11;22) translocation.
American journal of human genetics 1999;65(6):1608-16.
1999: Lisa Shaffer; Catherine D Kashork; Carlos A Bacino; P J Benke
Caution: telomere crossing.
American journal of medical genetics 1999;87(3):278-80.
1999: Karla R Bowles; J Gibson; J Wu; Lisa Shaffer; Jeffrey A Towbin; Neil E Bowles
Genomic organization and chromosomal localization of the human Coxsackievirus B-adenovirus receptor gene.
Human genetics 1999;105(4):354-9.
1999: Catherine D Kashork; Ken-Shiung Chen; James R Lupski; Lisa Shaffer
Prenatal diagnosis of Charcot-Marie-Tooth disease type 1A.
Annals of the New York Academy of Sciences 1999;883():457-9.
1999: AM Slavotinek; Lisa Shaffer; S K Shapira
Monosomy 1p36.
Journal of medical genetics 1999;36(9):657-63.
1999: Heidi A Heilstedt; Stuart K Shapira; Anthony Gregg; Lisa Shaffer
Molecular and clinical characterization of a patient with duplication of 1p36.3 and metopic synostosis.
Clinical genetics 1999;56(2):123-8.
1999: Osvaldo M Mutchinick; Lisa Shaffer; C D Kashork; E I Cervantes
Miller-Dieker syndrome and trisomy 5p in a child carrying a derivative chromosome with a microdeletion in 17p13.3 telomeric to the LIS1 and the D17S379 loci.
American journal of medical genetics 1999;85(2):99-104.
1999: Sue Ann Berend; Lisa Shaffer; Bassem A Bejjani
Pure trisomy 10p involving an isochromosome 10p.
Clinical genetics 1999;55(5):367-71.
1999: Catherine D Kashork; James R Lupski; Lisa Shaffer
Prenatal diagnosis of Charcot-Marie-Tooth disease type 1A by interphase fluorescence in situ hybridization.
Prenatal diagnosis 1999;19(5):446-9.
1999: Ken Inoue; Hitoshi Osaka; K Imaizumi; A Nezu; J Takanashi; J Arii; K Murayama; J Ono; Y Kikawa; T Mito; Lisa Shaffer; James R Lupski
Proteolipid protein gene duplications causing Pelizaeus-Merzbacher disease: molecular mechanism and phenotypic manifestations.
Annals of neurology 1999;45(5):624-32.
1999: Lorraine Potocki; Ken-Shiung Chen; T Koeuth; James Killian; S T Iannaccone; Stuart K Shapira; Catherine D Kashork; AS Spikes; Lisa Shaffer; James R Lupski
DNA rearrangements on both homologues of chromosome 17 in a mildly delayed individual with a family history of autosomal dominant carpal tunnel syndrome.
American journal of human genetics 1999;64(2):471-8.
1999: YQ Wu; Heidi A Heilstedt; Joseph A Bedell; K M May; D E Starkey; John D McPherson; Stuart K Shapira; Lisa Shaffer
Molecular refinement of the 1p36 deletion syndrome reveals size diversity and a preponderance of maternally derived deletions.
Human molecular genetics 1999;8(2):313-21.
1999: Sue Ann Berend; Gerald L Feldman; Christopher McCaskill; PM Czarnecki; Daniel L Van Dyke; Lisa Shaffer
Investigation of two cases of paternal disomy 13 suggests timing of isochromosome formation and mechanisms leading to uniparental disomy.
American journal of medical genetics 1999;82(3):275-81.
1999: Carlos A Bacino; Brendan Lee; AS Spikes; Lisa Shaffer
Trisomy 16q in a female newborn with a de novo X;16 translocation and hypoplastic left heart.
American journal of medical genetics 1999;82(2):128-31.
1998: Barbara K Goodman; Lisa Shaffer; Julie Rutberg; M Leppert; KH Harum; S Gagos; J H Ray; M G Bialer; X Zhou; B A Pletcher; Stuart K Shapira; Michael T Geraghty
Inherited duplication Xq27-qter at Xp22.3 in severely affected males: molecular cytogenetic evaluation and clinical description in three unrelated families.
American journal of medical genetics 1998;80(4):377-84.
1998: Sue Ann Berend; S Canún; Christopher McCaskill; Scott L Page; Lisa Shaffer
Molecular analysis of mosaicism for two different de novo acrocentric rearrangements demonstrates diversity in Robertsonian translocation formation.
American journal of medical genetics 1998;80(3):252-9.
1998: S Canún; O Mutchinick; Lisa Shaffer; C Fernández
Combined trisomy 9 and Ullrich-Turner syndrome in a girl with a 46,X,der(9)t(X;9)(q12;q32) karyotype.
American journal of medical genetics 1998;80(3):199-203.
1998: Peter H King; R Waldrop; J R Lupski; Lisa Shaffer
Charcot-Marie-Tooth phenotype produced by a duplicated PMP22 gene as part of a 17p trisomy-translocation to the X chromosome.
Clinical genetics 1998;54(5):413-6.
1998: Lisa Shaffer; Christopher McCaskill; K Adkins; Terry J Hassold
Systematic search for uniparental disomy in early fetal losses: the results and a review of the literature.
American journal of medical genetics 1998;79(5):366-72.
1998: Yuan-Qing Wu; V Reid Sutton; E Nickerson; James R Lupski; Lorraine Potocki; julie R korenberg; F Greenberg; M Tassabehji; Lisa Shaffer
Delineation of the common critical region in Williams syndrome and clinical correlation of growth, heart defects, ethnicity, and parental origin.
American journal of medical genetics 1998;78(1):82-9.
1998: Y Pan; C D McCaskill; K H Thompson; J Hicks; Brett Casey; Lisa Shaffer; William J Craigen
Paternal isodisomy of chromosome 7 associated with complete situs inversus and immotile cilia.
American journal of human genetics 1998;62(6):1551-5.
1998: A H Ligon; L Potocki; Lisa Shaffer; D Stickens; Glen A Evans
Gene for multiple exostoses (EXT2) maps to 11(p11.2p12) and is deleted in patients with a contiguous gene syndrome.
American journal of medical genetics 1998;75(5):538-40.
1998: Scott L Page; Lisa Shaffer
Chromosome stability is maintained by short intercentromeric distance in functionally dicentric human Robertsonian translocations.
Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology 1998;6(2):115-22.
1997: E Schröck; T Veldman; Hesed Padilla-Nash; Yi Ning; J Spurbeck; S Jalal; Lisa Shaffer; P Papenhausen; C Kozma; M C Phelan; E Kjeldsen; S A Schonberg; P O'Brien; Leslie G Biesecker; S du Manoir; Thomas Ried
Spectral karyotyping refines cytogenetic diagnostics of constitutional chromosomal abnormalities.
Human genetics 1997;101(3):255-62.
1997: S W Cheung; Lisa Shaffer; Carolyn S (Sue) Richards; Scott L Page; D L Riconda
Prenatal diagnosis of a fetus with a homologous Robertsonian translocation of chromosomes 15.
American journal of medical genetics 1997;72(1):47-50.
1997: Stuart K Shapira; Christopher McCaskill; H Northrup; AS Spikes; Frederick F Elder; V Reid Sutton; julie R korenberg; F Greenberg; Lisa Shaffer
Chromosome 1p36 deletions: the clinical phenotype and molecular characterization of a common newly delineated syndrome.
American journal of human genetics 1997;61(3):642-50.
1997: David Wayne Stockton; HL Ross; Carlos A Bacino; Carolyn A Altman; Lisa Shaffer; James R Lupski
Severe clinical phenotype due to an interstitial deletion of the short arm of chromosome 1: a brief review.
American journal of medical genetics 1997;71(2):189-93.
1997: Lisa Shaffer; Christopher McCaskill; C A Egli; J C Baker; K M Johnston
Is there an abnormal phenotype associated with maternal isodisomy for chromosome 2 in the presence of two isochromosomes?
American journal of human genetics 1997;61(2):461-2.
1997: GB Ferrero; Marinella Gebbia; Giuseppe Pilia; Deborah Witte; Andrea M Peier; R J Hopkin; William J Craigen; Lisa Shaffer; David Schlessinger; Andrea Ballabio; Brett Casey
A submicroscopic deletion in Xq26 associated with familial situs ambiguus.
American journal of human genetics 1997;61(2):395-401.
1997: A H Ligon; Arthur L Beaudet; Lisa Shaffer
Simultaneous, multilocus FISH analysis for detection of microdeletions in the diagnostic evaluation of developmental delay and mental retardation.
American journal of human genetics 1997;61(1):51-9.
1997: A Voskova-Goldman; Andrea M Peier; CT Caskey; Carolyn S (Sue) Richards; Lisa Shaffer
DMD-specific FISH probes are diagnostically useful in the detection of female carriers of DMD gene deletions.
Neurology 1997;48(6):1633-8.
1997: Stuart K Shapira; Avi Orr-Urtreger; S Gagos; Lisa Shaffer
Constitutional mosaicism for a chromosome 9 inversion resulting in recombinant aneusomy in an offspring.
American journal of medical genetics 1997;69(4):360-4.
1997: Lisa Shaffer; G M Kennedy; AS Spikes; James R Lupski
Diagnosis of CMT1A duplications and HNPP deletions by interphase FISH: implications for testing in the cytogenetics laboratory.
American journal of medical genetics 1997;69(3):325-31.
1997: Scott L Page; Lisa Shaffer
Nonhomologous Robertsonian translocations form predominantly during female meiosis.
Nature genetics 1997;15(3):231-2.
1996: A S Schneider; Farideh Z Bischoff; Christopher McCaskill; M L Coady; J E Stopfer; Lisa Shaffer
Comprehensive 4-year follow-up on a case of maternal heterodisomy for chromosome 16.
American journal of medical genetics 1996;66(2):204-8.
1996: Christi A Walter; Lisa Shaffer; Celia I Kaye; R W Huff; Patricia D Ghidoni; Christopher McCaskill; M B McFarland; Charleen M Moore
Short-limb dwarfism and hypertrophic cardiomyopathy in a patient with paternal isodisomy 14: 45,XY,idic(14)(p11).
American journal of medical genetics 1996;65(4):259-65.
1996: Lisa Shaffer; Sylvie Langlois; Christopher McCaskill; D M Main; Wendy P Robinson; Irene Barrett; Dagmar K Kalousek
Analysis of nine pregnancies with confined placental mosaicism for trisomy 2.
Prenatal diagnosis 1996;16(10):899-905.
1996: Scott L Page; J C Shin; Jin-Yeong Han; K H Choo; Lisa Shaffer
Breakpoint diversity illustrates distinct mechanisms for Robertsonian translocation formation.
Human molecular genetics 1996;5(9):1279-88.
1996: Lisa Shaffer; AS Spikes; M Macha; R Dunn
Identification of a subtle chromosomal translocation in a family with recurrent miscarriages and a child with multiple congenital anomalies. A case report.
The Journal of reproductive medicine 1996;41(5):367-71.
1996: Benjamin B Roa; F Greenberg; P Gunaratne; C M Sauer; MS Lubinsky; Chahira Kozma; Jeanne M Meck; R Ellen Magenis; Lisa Shaffer; James R Lupski
Duplication of the PMP22 gene in 17p partial trisomy patients with Charcot-Marie-Tooth type-1 neuropathy.
Human genetics 1996;97(5):642-9.
1996: Lorraine Potocki; Lisa Shaffer
Interstitial deletion of 11(p11.2p12): a newly described contiguous gene deletion syndrome involving the gene for hereditary multiple exostoses (EXT2).
American journal of medical genetics 1996;62(3):319-25.
1996: K M Hegmann; AS Spikes; Avi Orr-Urtreger; Lisa Shaffer
Segregation of a paternal insertional translocation results in partial 4q monosomy or 4q trisomy in two siblings.
American journal of medical genetics 1996;61(1):10-5.
1996: Lisa Shaffer; Christopher McCaskill; J H Hersh; F Greenberg; James R Lupski
A clinical and molecular study of mosaicism for trisomy 17.
Human genetics 1996;97(1):69-72.
1995: Farideh Z Bischoff; J Zenger-Hain; D Moses; Daniel L Van Dyke; Lisa Shaffer
Mosaicism for trisomy 12: four cases with varying outcomes.
Prenatal diagnosis 1995;15(11):1017-26.
1995: C Jones; C Booth; D Rita; L Jazmines; R Spiro; B McCulloch; Christopher McCaskill; Lisa Shaffer
Identification of a case of maternal uniparental disomy of chromosome 10 associated with confined placental mosaicism.
Prenatal diagnosis 1995;15(9):843-8.
1995: AS Spikes; K Hegmann; J L Smith; Lisa Shaffer
Use of fluorescence in situ hybridization to clarify a complex chromosomal rearrangement in a child with multiple congenital anomalies.
American journal of medical genetics 1995;57(1):31-4.
1995: A Scheuerle; J L Zenger-Hain; Daniel L Van Dyke; David Ledbetter; F Greenberg; Lisa Shaffer
Replication banding and molecular studies of a mosaic, unbalanced dic(X;15)(Xpter-->Xq26.1::15p11-->15qter).
American journal of medical genetics 1995;56(4):403-8.
1995: E Nickerson; F Greenberg; M T Keating; Christopher McCaskill; Lisa Shaffer
Deletions of the elastin gene at 7q11.23 occur in approximately 90% of patients with Williams syndrome.
American journal of human genetics 1995;56(5):1156-61.
1995: Elizabeth Lindsay; Lisa Shaffer; R Carrozzo; F Greenberg; Antonio Baldini
De novo tandem duplication of chromosome segment 22q11-q12: clinical, cytogenetic, and molecular characterization.
American journal of medical genetics 1995;56(3):296-9.
1995: Elizabeth Lindsay; F Greenberg; Lisa Shaffer; Stuart K Shapira; Peter J Scambler; Antonio Baldini
Submicroscopic deletions at 22q11.2: variability of the clinical picture and delineation of a commonly deleted region.
American journal of medical genetics 1995;56(2):191-7.
1995: Farideh Z Bischoff; Gerald L Feldman; Christopher McCaskill; S Subramanian; M R Hughes; Lisa Shaffer
Single cell analysis demonstrating somatic mosaicism involving 11p in a patient with paternal isodisomy and Beckwith-Wiedemann syndrome.
Human molecular genetics 1995;4(3):395-9.
1995: Scott L Page; W C Earnshaw; K H Choo; Lisa Shaffer
Further evidence that CENP-C is a necessary component of active centromeres: studies of a dic(X; 15) with simultaneous immunofluorescence and FISH.
Human molecular genetics 1995;4(2):289-94.
1995: M S Aqua; P Rizzu; Elizabeth Lindsay; Lisa Shaffer; E H Zackai; J Overhauser; Antonio Baldini
Duplication 3q syndrome: molecular delineation of the critical region.
American journal of medical genetics 1995;55(1):33-7.
1995: M L Levin; Lisa Shaffer; Mary V Gresik; James R Lupski
Unique de novo interstitial deletion of chromosome 17, del(17) (q23.2q24.3) in a female newborn with multiple congenital anomalies.
American journal of medical genetics 1995;55(1):30-2.
1995: Ken-Shiung Chen; P H Gunaratne; J D Hoheisel; Ian G Young; George L Gabor Miklos; F Greenberg; Lisa Shaffer; Hugh D Campbell; James R Lupski
The human homologue of the Drosophila melanogaster flightless-I gene (flil) maps within the Smith-Magenis microdeletion critical region in 17p11.2.
American journal of human genetics 1995;56(1):175-82.
1994: Lisa Shaffer; Christopher McCaskill; Jin-Yeong Han; K H Choo; D M Cutillo; AE Donnenfeld; L Weiss; Daniel L Van Dyke
Molecular characterization of de novo secondary trisomy 13.
American journal of human genetics 1994;55(5):968-74.
1994: Jin-Yeong Han; K H Choo; Lisa Shaffer
Molecular cytogenetic characterization of 17 rob(13q14q) Robertsonian translocations by FISH, narrowing the region containing the breakpoints.
American journal of human genetics 1994;55(5):960-7.
1994: J E Parrish; Ben A Oostra; A J Verkerk; Carolyn S (Sue) Richards; J Reynolds; AS Spikes; Lisa Shaffer; David L Nelson
Isolation of a GCC repeat showing expansion in FRAXF, a fragile site distal to FRAXA and FRAXE.
Nature genetics 1994;8(3):229-35.
1994: Stuart K Shapira; K L Anderson; A Orr-Urtregar; William J Craigen; James R Lupski; Lisa Shaffer
De novo proximal interstitial deletions of 14q: cytogenetic and molecular investigations.
American journal of medical genetics 1994;52(1):44-50.
1994: Farideh Z Bischoff; DD Nguyen; K J Burt; Lisa Shaffer
Estimates of aneuploidy using multicolor fluorescence in situ hybridization on human sperm.
Cytogenetics and cell genetics 1994;66(4):237-43.
1994: D Schmidt; Lisa Shaffer; Christopher McCaskill; E Rose; F Greenberg
Very low maternal serum chorionic gonadotropin levels in association with fetal triploidy.
American journal of obstetrics and gynecology 1994;170(1 Pt 1):77-80.
1993: Ignatia B Van den Veyver; M E Macha; Christopher McCaskill; RJ Carpenter; Lisa Shaffer
Prenatal diagnosis and clinical findings in a case of hexasomy 12p.
American journal of medical genetics 1993;47(8):1171-4.
1993: Lisa Shaffer; Christopher McCaskill; V Haller; J A Brown; Colleen Jackson-Cook
Further characterization of 19 cases of rea(21q21q) and delineation as isochromosomes or Robertsonian translocations in Down syndrome.
American journal of medical genetics 1993;47(8):1218-22.
1993: Lisa Shaffer; J Overhauser; L G Jackson; David Ledbetter
Genetic syndromes and uniparental disomy: a study of 16 cases of Brachmann-de Lange syndrome.
American journal of medical genetics 1993;47(3):383-6.
1993: Lisa Shaffer; J T Hecht; David Ledbetter; F Greenberg
Familial interstitial deletion 11(p11.12p12) associated with parietal foramina, brachymicrocephaly, and mental retardation.
American journal of medical genetics 1993;45(5):581-3.
1992: Lisa Shaffer; Colleen Jackson-Cook; B A Stasiowski; J E Spence; J A Brown
Parental origin determination in thirty de novo Robertsonian translocations.
American journal of medical genetics 1992;43(6):957-63.
1991: Lisa Shaffer; Colleen Jackson-Cook; J M Meyer; J A Brown; J E Spence
A molecular genetic approach to the identification of isochromosomes of chromosome 21.
Human genetics 1991;86(4):375-82.
1990: Lisa Shaffer; Mary L Marazita; J Bodurtha; A Newlin; Walter E Nance
Evidence for a major gene in familial anencephaly.
American journal of medical genetics 1990;36(1):97-101.