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Lisa Shaffer

This is a preview profile on BiomedExperts - the first literature-based scientific social network. It brings the right researchers together and allows them to collaborate online. Collexis and Dell provide the BiomedExperts network of +1.5 Million pre-calculated profiles free of charge to researchers worldwide.

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TOP 3
D'Angelo Carla S; Gajecka Marzena; Kim Chong A; Gentles Andrew J; Glotzbach Caron D; Shaffer Lisa G; Koiffmann Célia P
Further delineation of nonhomologous-based recombination and evidence for subtelomeric segmental duplications in 1p36 rearrangements.
Adams Sara Anne; Coppinger Justine; Saitta Sulagna C; Stroud Tracy; Kandamurugu Manikum; Fan Zheng; Ballif Blake C; Shaffer Lisa G; Bejjani Bassem A
Impact of genotype-first diagnosis: the detection of microdeletion and microduplication syndromes with cancer predisposition by aCGH.
Theisen Aaron; Rosenfeld Jill A; Farrell Sandra A; Harris Catharine J; Wetzel Heather H; Torchia Beth A; Bejjani Bassem A; Ballif Blake C; Shaffer Lisa G
aCGH detects partial tetrasomy of 12p in blood from Pallister-Killian syndrome cases without invasive skin biopsy.

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All Publications

2009: D'Angelo Carla S; Gajecka Marzena; Kim Chong A; Gentles Andrew J; Glotzbach Caron D; Shaffer Lisa G; Koiffmann Célia P
Further delineation of nonhomologous-based recombination and evidence for subtelomeric segmental duplications in 1p36 rearrangements.
Human genetics 2009;125(5-6):551-63.
2009: Adams Sara Anne; Coppinger Justine; Saitta Sulagna C; Stroud Tracy; Kandamurugu Manikum; Fan Zheng; Ballif Blake C; Shaffer Lisa G; Bejjani Bassem A
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: Theisen Aaron; Rosenfeld Jill A; Farrell Sandra A; Harris Catharine J; Wetzel Heather H; Torchia Beth A; Bejjani Bassem A; Ballif Blake C; Shaffer Lisa G
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: Traylor Ryan N; Fan Zheng; Hudson Beth; Rosenfeld Jill A; Shaffer Lisa G; Torchia Beth S; Ballif Blake C
Microdeletion of 6q16.1 encompassing EPHA7 in a child with mild neurological abnormalities and dysmorphic features: case report.
Molecular Cytogenetics 2009;2():17.
2009: Haj Roland; Jackson Kelly; Torchia Beth A; Shaffer Lisa G; Bejjani Bassem A; Gowans Gordon C; Ruff Michael W
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: Gajecka Marzena; Saadeh Reem; Mackay Katherine L; Glotzbach Caron D; Spodar Krystyna; Chitayat David; Shaffer Lisa G
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: Gajecka Marzena; Gentles Andrew J; Tsai Albert; Chitayat David; Mackay Katherine L; Glotzbach Caron D; Lieber Michael R; Shaffer Lisa G
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: Shaffer Lisa G; Coppinger Justine; Alliman Sarah; Torchia Beth A; Theisen Aaron; Ballif Blake C; Bejjani Bassem A
Comparison of microarray-based detection rates for cytogenetic abnormalities in prenatal and neonatal specimens.
Prenatal diagnosis 2008;28(9):789-95.
2008: Dobyns William B; Mirzaa Ghayda; Christian Susan L; Petras Kristin; Roseberry Jessica; Clark Gary D; Curry Cynthia J R; McDonald-McGinn Donna; Medne Livija; Zackai Elaine; Parsons Julie; Zand Dina J; Hisama Fuki M; Walsh Christopher A; Leventer Richard J; Martin Christa L; Gajecka Marzena; Shaffer Lisa G
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: Bejjani Bassem A; Shaffer Lisa G
Clinical utility of contemporary molecular cytogenetics.
Annual review of genomics and human genetics 2008;9():71-86.
2008: Ballif Blake C; Theisen Aaron; Coppinger Justine; Gowans Gordon C; Hersh Joseph H; Madan-Khetarpal Suneeta; Schmidt Karen R; Tervo Raymond; Escobar Luis F; Friedrich Christopher A; McDonald Marie; Campbell Lindsey; Ming Jeffrey E; Zackai Elaine H; Bejjani Bassem A; Shaffer Lisa G
Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication.
Molecular Cytogenetics 2008;1(1):8.
2008: Jiang Yong-Hui; Wauki Kekio; Liu Qian; Bressler Jan; Pan Yanzhen; Kashork Catherine D; Shaffer Lisa G; Beaudet Arthur L
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.
2007: Gajecka Marzena; Mackay Katherine L; Shaffer Lisa G
Monosomy 1p36 deletion syndrome.
American journal of medical genetics. Part C, Seminars in medical genetics 2007;145C(4):346-56.
2007: Shaffer Lisa G; Bejjani Bassem A; Torchia Beth; Kirkpatrick Susan; Coppinger Justine; Ballif Blake C
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: Shaffer Lisa G; Beaudet Arthur L; Brothman Arthur R; Hirsch Betsy; Levy Brynn; Martin Christa Lese; Mascarello James T; Rao Kathleen W;
Microarray analysis for constitutional cytogenetic abnormalities.
Genetics in medicine : official journal of the American College of Medical Genetics 2007;9(9):654-62.
2007: Shaffer Lisa G; Theisen Aaron; Bejjani Bassem A; Ballif Blake C; Aylsworth Arthur S; Lim Cynthia; McDonald Marie; Ellison Jay W; Kostiner Dana; Saitta Sulagna; Shaikh Tamim
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: 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 John M; Medne Livija; Zackai Elaine H; Shaikh Tamim H; Geoghegan Joel; Selzer Rebecca R; Eis Peggy S; Bejjani Bassem A; Shaffer Lisa G
Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2.
Nature genetics 2007;39(9):1071-3.
2007: Ballif Blake C; Sulpizio Scott G; Lloyd Richard M; Minier Sara L; Theisen Aaron; Bejjani Bassem A; Shaffer Lisa G
The clinical utility of enhanced subtelomeric coverage in array CGH.
American journal of medical genetics. Part A 2007;143A(16):1850-7.
2007: Ballif Blake C; Hornor Sara A; Sulpizio Scott G; Lloyd Richard M; Minier Sara L; Rorem Emily A; Theisen Aaron; Bejjani Bassem A; Shaffer Lisa G
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: Jarmuz Malgorzata; Glotzbach Caron D; Bailey Kristen A; Bandyopadhyay Ruma; Shaffer Lisa G
The Evolution of satellite III DNA subfamilies among primates.
American journal of human genetics 2007;80(3):495-501.
2006: Ballif Blake C; Rorem Emily A; Sundin Kyle; Lincicum Matt; Gaskin Shannon; Coppinger Justine; Kashork Catherine D; Shaffer Lisa G; Bejjani Bassem A
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: Gajecka Marzena; Glotzbach Caron D; Jarmuz Malgorzata; Ballif Blake C; Shaffer Lisa G
Identification of cryptic imbalance in phenotypically normal and abnormal translocation carriers.
European journal of human genetics : EJHG 2006;14(12):1255-62.
2006: Gajecka Marzena; Pavlicek Adam; Glotzbach Caron D; Ballif Blake C; Jarmuz Malgorzata; Jurka Jerzy; Shaffer Lisa G
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: Baris Hagit; Bejjani Bassem A; Tan Wen-Hann; Coulter David L; Martin Judith A; Storm Andrea L; Burton Barbara K; Saitta Sulagna C; Gajecka Marzena; Ballif Blake C; Irons Mira B; Shaffer Lisa G; Kimonis Virginia E
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: Ou Zhishuo; Jarmuz Malgorzata; Sparagana Steven P; Michaud Jacques; Décarie Jean-Claude; Yatsenko Svetlana A; Nowakowska Beata; Furman Patti; Shaw Chad A; Shaffer Lisa G; Lupski James R; Chinault A Craig; Cheung Sau W; Stankiewicz Pawel
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: Shaffer Lisa G; Kashork Catherine D; Saleki Reza; Rorem Emily; Sundin Kyle; Ballif Blake C; Bejjani Bassem A
Targeted genomic microarray analysis for identification of chromosome abnormalities in 1500 consecutive clinical cases.
The Journal of pediatrics 2006;149(1):98-102.
2006: Shaffer Lisa G
Risk estimates for uniparental disomy following prenatal detection of a nonhomologous Robertsonian translocation.
Prenatal diagnosis 2006;26(4):303-7.
2006: Ballif Blake C; Kashork Catherine D; Saleki Reza; Rorem Emily; Sundin Kyle; Bejjani Bassem A; Shaffer Lisa G
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: Shaffer L G; Bejjani B A
Medical applications of array CGH and the transformation of clinical cytogenetics.
Cytogenetic and genome research 2006;115(3-4):303-9.
2006: Jarmuz Malgorzata; Ballif Blake C; Kashork Catherine D; Theisen Aaron P; Bejjani Bassem A; Shaffer Lisa G
Comparative genomic hybridization by microarray for the detection of cytogenetic imbalance.
Methods in molecular medicine 2006;128():23-31.
2006: Jarmuz Malgorzata; Shaffer Lisa G
Cytogenetic analysis of cardiovascular disease: karyotyping.
Methods in molecular medicine 2006;128():1-9.
2006: Kashork C D; Theisen A; Bejjani B A; Shaffer L G
Rearrangements of chromosome 18 illustrate the utility of array-based comparative genomic hybridization.
Cytogenetic and genome research 2006;114(3-4):379-83.
2006: Gajecka Marzena; Glotzbach Caron D; Shaffer Lisa G
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: Shaffer Lisa G;
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: Bejjani Bassem A; Theisen Aaron P; Ballif Blake C; Shaffer Lisa G
Array-based comparative genomic hybridization in clinical diagnosis.
Expert review of molecular diagnostics 2005;5(3):421-9.
2005: Wakui Keiko; Gregato Giuliana; Ballif Blake C; Glotzbach Caron D; Bailey Kristen A; Kuo Pao-Lin; Sue Whui-Chen; Sheffield Leslie J; Irons Mira; Gomez Enrique G; Hecht Jacqueline T; Potocki Lorraine; Shaffer Lisa G
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: Yobb Twila M; Somerville Martin J; Willatt Lionel; Firth Helen V; Harrison Karen; MacKenzie Jennifer; Gallo Natasha; Morrow Bernice E; Shaffer Lisa G; Babcock Melanie; Chernos Judy; Bernier Francois; Sprysak Kathy; Christiansen Jesse; Haase Shelagh; Elyas Basil; Lilley Margaret; Bamforth Steven; McDermid Heather E
Microduplication and triplication of 22q11.2: a highly variable syndrome.
American journal of human genetics 2005;76(5):865-76.
2005: Bejjani Bassem A; Saleki Reza; Ballif Blake C; Rorem Emily A; Sundin Kyle; Theisen Aaron; Kashork Catherine D; Shaffer Lisa G
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: Chuang Louise; Wakui Keiko; Sue Whey-Chen; Su Mei-Hsu; Shaffer Lisa G; Kuo Pao-Lin
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: Gajecka Marzena; Yu Wei; Ballif Blake C; Glotzbach Caron D; Bailey Kristen A; Shaw Chad A; Kashork Catherine D; Heilstedt Heidi A; Ansel David A; Theisen Aaron; Rice Ritva; Rice David P C; Shaffer Lisa G
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: Mendoza-Londono Roberto; Kashork Catherine D; Shaffer Lisa G; Krance Robert; Plon Sharon E
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.
2005: Rosa Alberto L; Wu Yuan-Qing; Kwabi-Addo Bernard; Coveler Karen J; Reid Sutton V; Shaffer Lisa G
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.
2004: Jiang Yong-Hui; Sahoo Trilochan; Michaelis Ron C; Bercovich Dani; Bressler Jan; Kashork Catherine D; Liu Qian; Shaffer Lisa G; Schroer Richard J; Stockton David W; Spielman Richard S; Stevenson Roger E; Beaudet Arthur L
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: Shaffer Lisa G; Bejjani Bassem A
A cytogeneticist's perspective on genomic microarrays.
Human reproduction update 2004;10(3):221-6.
2004: Lynch M Fran; Fernandes Caraciolo J; Shaffer Lisa G; Potocki Lorraine
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: Ballif Blake C; Wakui Keiko; Gajecka Marzena; Shaffer Lisa G
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.
2004: Ballif Blake C; Gajecka Marzena; Shaffer Lisa G
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.
2003: Babcock Melanie; Pavlicek Adam; Spiteri Elizabeth; Kashork Catherine D; Ioshikhes Ilya; Shaffer Lisa G; Jurka Jerzy; Morrow Bernice E
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: Yatsenko S A; Mendoza-Londono R; Belmont J W; Shaffer L G
Omphalocele in trisomy 3q: further delineation of phenotype.
Clinical genetics 2003;64(5):404-13.
2003: Heilstedt H A; Ballif B C; Howard L A; Kashork C D; Shaffer L G
Population data suggest that deletions of 1p36 are a relatively common chromosome abnormality.
Clinical genetics 2003;64(4):310-6.
2003: 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
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: Ballif Blake C; Yu Wei; Shaw Chad A; Kashork Catherine D; Shaffer Lisa G
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: Yu Wei; Ballif Blake C; Kashork Catherine D; Heilstedt Heidi A; Howard Leslie A; Cai Wei-Wen; White Lisa D; Liu Wenbin; Beaudet Arthur L; Bejjani Bassem A; Shaw Chad A; Shaffer Lisa G
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: Kovaleva Natalia V; Shaffer Lisa G
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: Spiteri Elizabeth; Babcock Melanie; Kashork Catherine D; Wakui Keiko; Gogineni Swarna; Lewis Debbie A; Williams Kisa M; Minoshima Shinsei; Sasaki Takashi; Shimizu Nobuyoshi; Potocki Lorraine; Pulijaal Venkat; Shanske Alan; Shaffer Lisa G; Morrow Bernice E
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: Murphy S K; Wylie A A; Coveler K J; Cotter P D; Papenhausen P R; Sutton V R; Shaffer L G; Jirtle R L
Epigenetic detection of human chromosome 14 uniparental disomy.
Human mutation 2003;22(1):92-7.
2003: Heilstedt Heidi A; Ballif Blake C; Howard Leslie A; Lewis Richard A; Stal Samuel; Kashork Catherine D; Bacino Carlos A; Shapira Stuart K; Shaffer Lisa G
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: Stankiewicz Pawel; Shaw Christine J; Dapper Jason D; Wakui Keiko; Shaffer Lisa G; Withers Marjorie; Elizondo Leah; Park Sung-Sup; Lupski James R
Genome architecture catalyzes nonrecurrent chromosomal rearrangements.
American journal of human genetics 2003;72(5):1101-16.
2003: Wang Qing; Gu Yanghong; Ferguson James M; Chen Qiuyun; Boatwright Scott; Gardiner James; Below Cheryl; Espinosa Janna; Nelson David L; Shaffer Lisa G
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: Coveler K J; Sutton V R; Knox-DuBois C; Shaffer L G
Comprehensive microsatellite marker analysis contradicts previous report of segmental maternal heterodisomy of chromosome 14.
Journal of medical genetics 2003;40(3):e26.
2003: Berend Sue Ann; Page Scott L; Atkinson William; McCaskill Christopher; Lamb Neil E; Sherman Stephanie L; Shaffer Lisa G
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: Bandyopadhyay Ruma; McCaskill Christopher; Knox-Du Bois Cami; Zhou Yaolin; Berend Sue Ann; Bijlsma Emilia; Shaffer Lisa G
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: Mohammed Mansoor S; Shaffer Lisa G
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: Bandyopadhyay Ruma; Heller Anita; Knox-DuBois Cami; McCaskill Christopher; Berend Sue Ann; Page Scott L; Shaffer Lisa G
Parental origin and timing of de novo Robertsonian translocation formation.
American journal of human genetics 2002;71(6):1456-62.
2002: 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
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: Inoue Ken; Osaka Hitoshi; Thurston Virginia C; Clarke Joe T R; Yoneyama Akira; Rosenbarker Lisa; Bird Thomas D; Hodes M E; Shaffer Lisa G; Lupski James R
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: Sutton V Reid; Coveler Karen J; Lalani Seema R; Kashork Catherine D; Shaffer Lisa G
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: Berend Sue Ann; Bejjani Bassem A; McCaskill Christopher; Shaffer Lisa G
Identification of uniparental disomy in phenotypically abnormal carriers of isochromosomes or Robertsonian translocations.
American journal of medical genetics 2002;111(4):362-5.
2002: Bi Weimin; Yan Jiong; Stankiewicz Pawe; Park Sung-Sup; Walz Katherina; Boerkoel Cornelius F; Potocki Lorraine; Shaffer Lisa G; Devriendt Koen; Nowaczyk Magorzata J M; Inoue Ken; Lupski James R
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: Berend Sue Ann; Bodamer Olaf A F; Shapira Stuart K; Shaffer Lisa G; Bacino Carlos A
Familial complex chromosomal rearrangement resulting in a recombinant chromosome.
American journal of medical genetics 2002;109(4):311-7.
2002: Wu Yuan-Qing; Bejjani Bassem A; Tsui Lap-Chee; Mandel Ariane; Osborne Lucy R; Shaffer Lisa G
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: Das Parimal; Stockton David W; Bauer Christopher; Shaffer Lisa G; D'Souza Rena N; Wright TimothyJ; Patel Pragna I
Haploinsufficiency of PAX9 is associated with autosomal dominant hypodontia.
Human genetics 2002;110(4):371-6.
2002: Coveler Karen J; Yang Sam P; Sutton ReidV; Milstein Jay M; Wu Yuan-Qing; Bois Knox-Du; Beischel Linda S; Johnson John P; Shaffer Lisa G
A case of segmental paternal isodisomy of chromosome 14.
Human genetics 2002;110(3):251-6.
2002: McGowan Kathryn D; Weiser Joseph J; Horwitz Juli; Berend Sue Ann; McCaskill Christopher; Sutton V Reid; Shaffer Lisa G
The importance of investigating for uniparental disomy in prenatally identified balanced acrocentric rearrangements.
Prenatal diagnosis 2002;22(2):141-3.
2002: Colmenares Clemencia; Heilstedt Heidi A; Shaffer Lisa G; Schwartz Stuart; Berk Michael; Murray Jeffrey C; Stavnezer Ed
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: Inoue K; Kanai M; Tanabe Y; Kubota T; Kashork C D; Wakui K; Fukushima Y; Lupski J R; Shaffer L G
Prenatal interphase FISH diagnosis of PLP1 duplication associated with Pelizaeus-Merzbacher disease.
Prenatal diagnosis 2001;21(13):1133-6.
2001: Shaffer L G; Heilstedt H A
Terminal deletion of 1p36.
Lancet 2001;358 Suppl():S9.
2001: Inoue K; Tanaka H; Scaglia F; Araki A; Shaffer L G; Lupski J R
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: Stankiewicz P; Parka S S; Holder S E; Waters C S; Palmer R W; Berend S A; Shaffer L G; Potocki L; Lupski J R
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: Stockton D W; Meade R A; Netscher D T; Epstein M J; Shenaq S M; Shaffer L G; Lupski J R
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: Heilstedt H A; Burgess D L; Anderson A E; Chedrawi A; Tharp B; Lee O; Kashork C D; Starkey D E; Wu Y Q; Noebels J L; Shaffer L G; Shapira S K
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: Shaffer L G
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: Shaffer L G; Agan N; Goldberg J D; Ledbetter D H; Longshore J W; Cassidy S B
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: Wu Y Q; Lin X; Liu C M; Jamrich M; Shaffer L G
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: Edelmann L; Stankiewicz P; Spiteri E; Pandita R K; Shaffer L; Lupski J R; Morrow B E;
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: Bandyopadhyay R; Berend S A; Page S L; Choo K H; Shaffer L G
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: Bandyopadhyay R; McQuillan C; Page S L; Choo K H; Shaffer L G
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: Ballif B C; Kashork C D; Shaffer L G
The promise and pitfalls of telomere region-specific probes.
American journal of human genetics 2000;67(5):1356-9.
2000: Wu Y Q; Badano J L; McCaskill C; Vogel H; Potocki L; Shaffer L G
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: Ballif B C; Kashork C D; Shaffer L G
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: Sutton V R; Shaffer L G
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: Britton R A; Chen S M; Wallis D; Koeuth T; Powell B S; Shaffer L G; Largaespada D; Jenkins N A; Copeland N G; Court D L; Lupski J R
Isolation and preliminary characterization of the human and mouse homologues of the bacterial cell cycle gene era.
Genomics 2000;67(1):78-82.
2000: Li D; Burch P; Gonzalez O; Kashork C D; Shaffer L G; Bachinski L L; Roberts R
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: Potocki L; Glaze D; Tan D X; Park S S; Kashork C D; Shaffer L G; Reiter R J; Lupski J R
Circadian rhythm abnormalities of melatonin in Smith-Magenis syndrome.
Journal of medical genetics 2000;37(6):428-33.
2000: Bacino C A; Kashork C D; Davino N A; Shaffer L G
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: Berend S A; Horwitz J; McCaskill C; Shaffer L G
Identification of uniparental disomy following prenatal detection of Robertsonian translocations and isochromosomes.
American journal of human genetics 2000;66(6):1787-93.
2000: Ligon A H; Kashork C D; Richards C S; Shaffer L G
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: Tubb B E; Bardien-Kruger S; Kashork C D; Shaffer L G; Ramagli L S; Xu J; Siciliano M J; Bryan J
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: Atkins K E; Gregg A; Spikes A S; Bacino C A; Bejjani B A; Kirkland J; Shaffer L G
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: Berend S A; Spikes A S; Kashork C D; Wu J M; Daw S C; Scambler P J; Shaffer L G
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: Scaglia F; Bodamer O A; Berend S A; Adam L R; Shaffer L G
Deletion (9) (p13.1 p21.1).
American journal of medical genetics 2000;91(2):113-5.
2000: Potocki L; Chen K S; Park S S; Osterholm D E; Withers M A; Kimonis V; Summers A M; Meschino W S; Anyane-Yeboa K; Kashork C D; Shaffer L G; Lupski J R
Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletion.
Nature genetics 2000;24(1):84-7.
1999: Wu Y Q; Nickerson E; Shaffer L G; Keppler-Noreuil K; Muilenburg A
A case of Williams syndrome with a large, visible cytogenetic deletion.
Journal of medical genetics 1999;36(12):928-32.
1999: Edelmann L; Spiteri E; McCain N; Goldberg R; Pandita R K; Duong S; Fox J; Blumenthal D; Lalani S R; Shaffer L G; Morrow B E
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: Shaffer L G; Kashork C D; Bacino C A; Benke P J
Caution: telomere crossing.
American journal of medical genetics 1999;87(3):278-80.
1999: Bowles K R; Gibson J; Wu J; Shaffer L G; Towbin J A; Bowles N E
Genomic organization and chromosomal localization of the human Coxsackievirus B-adenovirus receptor gene.
Human genetics 1999;105(4):354-9.
1999: Kashork C D; Chen K S; Lupski J R; Shaffer L G
Prenatal diagnosis of Charcot-Marie-Tooth disease type 1A.
Annals of the New York Academy of Sciences 1999;883():457-9.
1999: Heilstedt H A; Shapira S K; Gregg A R; Shaffer L G
Molecular and clinical characterization of a patient with duplication of 1p36.3 and metopic synostosis.
Clinical genetics 1999;56(2):123-8.
1999: Berend S A; Shaffer L G; Bejjani B A
Pure trisomy 10p involving an isochromosome 10p.
Clinical genetics 1999;55(5):367-71.
1999: Kashork C D; Lupski J R; Shaffer L G
Prenatal diagnosis of Charcot-Marie-Tooth disease type 1A by interphase fluorescence in situ hybridization.
Prenatal diagnosis 1999;19(5):446-9.
1999: Inoue K; Osaka H; Imaizumi K; Nezu A; Takanashi J; Arii J; Murayama K; Ono J; Kikawa Y; Mito T; Shaffer L G; Lupski J R
Proteolipid protein gene duplications causing Pelizaeus-Merzbacher disease: molecular mechanism and phenotypic manifestations.
Annals of neurology 1999;45(5):624-32.
1999: Potocki L; Chen K S; Koeuth T; Killian J; Iannaccone S T; Shapira S K; Kashork C D; Spikes A S; Shaffer L G; Lupski J R
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: Wu Y Q; Heilstedt H A; Bedell J A; May K M; Starkey D E; McPherson J D; Shapira S K; Shaffer L G
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: Berend S A; Feldman G L; McCaskill C; Czarnecki P; Van Dyke D L; Shaffer L G
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: Bacino C A; Lee B; Spikes A S; Shaffer L G
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: Goodman B K; Shaffer L G; Rutberg J; Leppert M; Harum K; Gagos S; Ray J H; Bialer M G; Zhou X; Pletcher B A; Shapira S K; Geraghty M T
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: Berend S A; Canún S; McCaskill C; Page S L; Shaffer L G
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: Shaffer L G; McCaskill C; Adkins K; Hassold T J
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: Wu Y Q; Sutton V R; Nickerson E; Lupski J R; Potocki L; Korenberg J R; Greenberg F; Tassabehji M; Shaffer L G
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: Pan Y; McCaskill C D; Thompson K H; Hicks J; Casey B; Shaffer L G; Craigen W J
Paternal isodisomy of chromosome 7 associated with complete situs inversus and immotile cilia.
American journal of human genetics 1998;62(6):1551-5.
1998: Page S L; Shaffer L G
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: Cheung S W; Shaffer L G; Richards C S; Page S L; Riconda D L
Prenatal diagnosis of a fetus with a homologous Robertsonian translocation of chromosomes 15.
American journal of medical genetics 1997;72(1):47-50.
1997: Shapira S K; McCaskill C; Northrup H; Spikes A S; Elder F F; Sutton V R; Korenberg J R; Greenberg F; Shaffer L G
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: Shaffer L G; McCaskill C; Egli C A; Baker J C; Johnston K M
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: Ferrero G B; Gebbia M; Pilia G; Witte D; Peier A; Hopkin R J; Craigen W J; Shaffer L G; Schlessinger D; Ballabio A; Casey B
A submicroscopic deletion in Xq26 associated with familial situs ambiguus.
American journal of human genetics 1997;61(2):395-401.
1997: Stockton D W; Ross H L; Bacino C A; Altman C A; Shaffer L G; Lupski J R
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: Ligon A H; Beaudet A L; Shaffer L G
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: Voskova-Goldman A; Peier A; Caskey C T; Richards C S; Shaffer L G
DMD-specific FISH probes are diagnostically useful in the detection of female carriers of DMD gene deletions.
Neurology 1997;48(6):1633-8.
1997: Shapira S K; Orr-Urtreger A; Gagos S; Shaffer L G
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: Shaffer L G; Kennedy G M; Spikes A S; Lupski J R
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: Page S L; Shaffer L G
Nonhomologous Robertsonian translocations form predominantly during female meiosis.
Nature genetics 1997;15(3):231-2.
1996: Schneider A S; Bischoff F Z; McCaskill C; Coady M L; Stopfer J E; Shaffer L G
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: Walter C A; Shaffer L G; Kaye C I; Huff R W; Ghidoni P D; McCaskill C; McFarland M B; Moore C M
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: Shaffer L G; Langlois S; McCaskill C; Main D M; Robinson W P; Barrett I J; Kalousek D K
Analysis of nine pregnancies with confined placental mosaicism for trisomy 2.
Prenatal diagnosis 1996;16(10):899-905.
1996: Page S L; Shin J C; Han J Y; Choo K H; Shaffer L G
Breakpoint diversity illustrates distinct mechanisms for Robertsonian translocation formation.
Human molecular genetics 1996;5(9):1279-88.
1996: Shaffer L G; Spikes A S; Macha M; Dunn R
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: Roa B B; Greenberg F; Gunaratne P; Sauer C M; Lubinsky M S; Kozma C; Meck J M; Magenis R E; Shaffer L G; Lupski J R
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: Potocki L; Shaffer L G
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: Hegmann K M; Spikes A S; Orr-Urtreger A; Shaffer L G
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: Shaffer L G; McCaskill C; Hersh J H; Greenberg F; Lupski J R
A clinical and molecular study of mosaicism for trisomy 17.
Human genetics 1996;97(1):69-72.
1995: Bischoff F Z; Zenger-Hain J; Moses D; Van Dyke D L; Shaffer L G
Mosaicism for trisomy 12: four cases with varying outcomes.
Prenatal diagnosis 1995;15(11):1017-26.
1995: Jones C; Booth C; Rita D; Jazmines L; Spiro R; McCulloch B; McCaskill C; Shaffer L G
Identification of a case of maternal uniparental disomy of chromosome 10 associated with confined placental mosaicism.
Prenatal diagnosis 1995;15(9):843-8.
1995: Nickerson E; Greenberg F; Keating M T; McCaskill C; Shaffer L G
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: Spikes A S; Hegmann K; Smith J L; Shaffer L G
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: Scheuerle A; Zenger-Hain J L; Van Dyke D L; Ledbetter D H; Greenberg F; Shaffer L G
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: Lindsay E A; Shaffer L G; Carrozzo R; Greenberg F; Baldini A
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: Bischoff F Z; Feldman G L; McCaskill C; Subramanian S; Hughes M R; Shaffer L G
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: Lindsay E A; Greenberg F; Shaffer L G; Shapira S K; Scambler P J; Baldini A
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: Page S L; Earnshaw W C; Choo K H; Shaffer L G
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: Chen K S; Gunaratne P H; Hoheisel J D; Young I G; Miklos G L; Greenberg F; Shaffer L G; Campbell H D; Lupski J R
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.
1995: Aqua M S; Rizzu P; Lindsay E A; Shaffer L G; Zackai E H; Overhauser J; Baldini A
Duplication 3q syndrome: molecular delineation of the critical region.
American journal of medical genetics 1995;55(1):33-7.
1995: Levin M L; Shaffer L G; Lewis RAp6; Gresik M V; Lupski J R
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.
1994: Shaffer L G; McCaskill C; Han J Y; Choo K H; Cutillo D M; Donnenfeld A E; Weiss L; Van Dyke D L
Molecular characterization of de novo secondary trisomy 13.
American journal of human genetics 1994;55(5):968-74.
1994: Han J Y; Choo K H; Shaffer L G
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: Parrish J E; Oostra B A; Verkerk A J; Richards C S; Reynolds J; Spikes A S; Shaffer L G; Nelson D L
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: Shapira S K; Anderson K L; Orr-Urtregar A; Craigen W J; Lupski J R; Shaffer L G
De novo proximal interstitial deletions of 14q: cytogenetic and molecular investigations.
American journal of medical genetics 1994;52(1):44-50.
1994: Schmidt D; Shaffer L G; McCaskill C; Rose E; Greenberg F
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.
1994: Bischoff F Z; Nguyen D D; Burt K J; Shaffer L G
Estimates of aneuploidy using multicolor fluorescence in situ hybridization on human sperm.
Cytogenetics and cell genetics 1994;66(4):237-43.
1993: Van den Veyver I B; Macha M E; McCaskill C; Carpenter R J; Shaffer L G
Prenatal diagnosis and clinical findings in a case of hexasomy 12p.
American journal of medical genetics 1993;47(8):1171-4.
1993: Shaffer L G; McCaskill C; Haller V; Brown J A; Jackson-Cook C K
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: Shaffer L G; Overhauser J; Jackson L G; Ledbetter D H
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: Shaffer L G; Hecht J T; Ledbetter D H; Greenberg F
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: Shaffer L G; Jackson-Cook C K; Stasiowski B A; Spence J E; Brown J A
Parental origin determination in thirty de novo Robertsonian translocations.
American journal of medical genetics 1992;43(6):957-63.
1991: Shaffer L G; Jackson-Cook C K; Meyer J M; Brown J A; Spence J E
A molecular genetic approach to the identification of isochromosomes of chromosome 21.
Human genetics 1991;86(4):375-82.
1990: Shaffer L G; Marazita M L; Bodurtha J; Newlin A; Nance W E
Evidence for a major gene in familial anencephaly.
American journal of medical genetics 1990;36(1):97-101.

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