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Christa Lese Martin

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Ronald J Wapner; Julia M Zachary; Vimla S Aggarwal; Blake C Ballif; Arthur L Beaudet; Brian Bunke; Christine M Eng; William A Grobman; Susan Klugman; Allen N Lamb; David H Ledbetter; Brynn Levy; Christa Lese Martin; Kimberly McCall; Odelia Nahum; Ankita Patel; Lawrence D Platt; Daniel Saltzman; Melissa Savage; Thomas Scholl; Lisa G Shaffer; Joe Leigh Simpson; Elizabeth A Thom; Laird Jackson
Chromosomal microarray versus karyotyping for prenatal diagnosis.
E R Riggs; S T South; Erik C Thorland; K E Wain; E S Williams; Swaroop Aradhya; D M Church; K Hanson; Victoria Horner; E B Kaminsky; Hutton M Kearney; R M Kuhn; David Ledbetter; Christa Lese Martin
Towards an evidence-based process for the clinical interpretation of copy number variation.
Andres Moreno-De-Luca; David Ledbetter; Christa Lese Martin
Genetic [corrected] insights into the causes and classification of [corrected] cerebral palsies.

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All Publications

2012: Ronald J Wapner; Julia M Zachary; Vimla S Aggarwal; Blake C Ballif; Arthur L Beaudet; Brian Bunke; Christine M Eng; William A Grobman; Susan Klugman; Allen N Lamb; David H Ledbetter; Brynn Levy; Christa Lese Martin; Kimberly McCall; Odelia Nahum; Ankita Patel; Lawrence D Platt; Daniel Saltzman; Melissa Savage; Thomas Scholl; Lisa G Shaffer; Joe Leigh Simpson; Elizabeth A Thom; Laird Jackson
Chromosomal microarray versus karyotyping for prenatal diagnosis.
The New England journal of medicine 2012;367(23):2175-84.
2012: E R Riggs; S T South; Erik C Thorland; K E Wain; E S Williams; Swaroop Aradhya; D M Church; K Hanson; Victoria Horner; E B Kaminsky; Hutton M Kearney; R M Kuhn; David Ledbetter; Christa Lese Martin
Towards an evidence-based process for the clinical interpretation of copy number variation.
Clinical genetics 2012;81(5):403-12.
2012: Andres Moreno-De-Luca; David Ledbetter; Christa Lese Martin
Genetic [corrected] insights into the causes and classification of [corrected] cerebral palsies.
Lancet neurology 2012;11(3):283-92.
2012: Lambertus Klei; David H Ledbetter; Catherine Lord; Jennifer K Lowe; Shrikant M Mane; Christa Lese Martin; Donna M Martin; Nadine M Melhem; Daniel Moreno-De-Luca; Eric M Morrow; Michael T Murtha; Kathryn Roeder; Stephan J Sanders; Matthew W State; James S Sutcliffe; Christopher A Walsh; A Jeremy Willsey; Timothy W Yu; Eric Fombonne; Daniel Geschwind; Dorothy E Grice; Vanessa Hus; Pauline Chaste; Edwin H Cook; Bernie Devlin
Common genetic variants, acting additively, are a major source of risk for autism.
Molecular autism 2012;3(1):9.
2011: Robert J Hartman; Christa Lese Martin; Sonja A Rasmussen; Tiffany Riehle-Colarusso; Mikyong Shin; Lorenzo D Botto; Janet D Cragan; Adolfo Correa
The contribution of chromosomal abnormalities to congenital heart defects: a population-based study.
Pediatric cardiology 2011;32(8):1147-57.
2011: Yue Luo; Christa Lese Martin; Jennifer Gladys Mulle; Blake C Ballif; Jannine Cody; Anne Dodd; Karen E Hermetz; Jodi M Jackson; David Ledbetter; Lisa G Shaffer; Karen D Tsuchiya; M Katharine Rudd
Diverse mutational mechanisms cause pathogenic subtelomeric rearrangements.
Human molecular genetics 2011;20(19):3769-78.
2011: Erin B Kaminsky; Vineith Kaul; Dawn Kunig; David Ledbetter; Todd Ackley; Swaroop Aradhya; Emily Aston; Sarah J Beal; Arthur R Brothman; Brian Bunke; Deanna M Church; Morag N Collinson; John G Compton; John A Crolla; Amy E Fuller; Troy J Gliem; Denae M Golden; Shuwen Huang; Ramaswamy K Iyer; Andres Moreno-De-Luca; Daniel Moreno-De-Luca; Jennifer Gladys Mulle; Justin Paschall; Diane L Pickering; Gabriele Richard; Michael R Rossi; M Katharine Rudd; Warren G Sanger; Shashirekha Shetty; Sarah T South; Erik C Thorland; Stephen Warren; Heidi Whitby; Christa Lese Martin
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.
Genetics in medicine : official journal of the American College of Medical Genetics 2011;13(9):777-84.
2011: Christopher W Carr; Christa Lese Martin; Miikka Vikkula; Holly H Zimmerman; Adam C Byrd; Omar A Abdul-Rahman
5q14.3 neurocutaneous syndrome: a novel continguous gene syndrome caused by simultaneous deletion of RASA1 and MEF2C.
American journal of medical genetics. Part A 2011;155A(7):1640-5.
2011: Jamie K Davis; Josh J Lowman; Donna L Maney; Christa Lese Martin; Louis B Mittel; Pamela J Thomas; James W Thomas
Haplotype-based genomic sequencing of a chromosomal polymorphism in the white-throated sparrow (Zonotrichia albicollis).
The Journal of heredity 2011;102(4):380-90.
2011: Stephan Sanders; Chad A Shaw; Michael Sheldon; Youeun Song; James S Sutcliffe; Susanne A Thomson; Jay A Tischfield; Christopher Walsh; Qi Wang; Brian L Yaspan; Timothy W Yu; Ilana R Yurkiewicz; Nicole R Davis Wright; Arthur L Beaudet; Kaya Bilguvar; Andrew I Brooks; Rita M Cantor; Patricia B S Celestino-Soper; Murim Choi; Su H Chu; Edwin H Cook; Emily L Crawford; Martin Curland; Lea Davis; Bernie Devlin; Rahul M Dhodapkar; Michael DiCola; Nicholas M DiLullo; A Gulhan Ercan-Sencicek; Thomas V Fernandez; Vikram Fielding-Singh; Daniel O Fishman; Eric Fombonne; Stephanie Frahm; Rouben Garagaloyan; Daniel Geschwind; Gerald S Goh; Dorothy E Grice; Murat Günel; Abha R Gupta; Vanessa Hus; Sindhuja Kammela; Lambertus Klei; David Ledbetter; Richard P Lifton; Catherine Lord; Jennifer K Lowe; Sabata C Lund; Rui Luo; Shrikant M Mane; Christa Lese Martin; Donna M Martin; Christopher E Mason; Anna D McGrew; Kyle A Meyer; William J Moffat; Michael P Moreau; Daniel Moreno-De-Luca; Eric M Morrow; John D Murdoch; Michael T Murtha; Gordon T Ober; Brian J O'Roak; Rebecca S Pottenger; Melanie J Raubeson; Kathryn Roeder; Sate Matthew
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Neuron 2011;70(5):863-85.
2011: Joseph F Cubells; Elizabeth H Deoreo; Philip D Harvey; Steven J Garlow; Kathryn Garber; Margaret P Adam; Christa Lese Martin
Pharmaco-genetically guided treatment of recurrent rage outbursts in an adult male with 15q13.3 deletion syndrome.
American journal of medical genetics. Part A 2011;155A(4):805-10.
2011: Andres Moreno-De-Luca; Sandra L Helmers; Hui Mao; Thomas G Burns; Amanda M A Melton; Karen R Schmidt; Paul M FERNHOFF; David Ledbetter; Christa Lese Martin
Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disability.
Journal of medical genetics 2011;48(2):141-4.
2011: Christa Lese Martin; Seiichi Nakamura; Ralf Otte; Larry E Overman
Total synthesis of (+)-condylocarpine, (+)-isocondylocarpine, and (+)-tubotaiwine.
Organic letters 2011;13(1):138-41.
2010: Daniel Moreno-De-Luca; Jennifer Gladys Mulle; Erin B Kaminsky; Stephan Sanders; Scott M Myers; Margaret P Adam; Amy T Pakula; Nancy J Eisenhauer; Kim Uhas; LuAnn Weik; Lisa Guy; Melanie E Care; Chantal F Morel; Charlotte Boni; Bonnie Anne Salbert; ashadeep chandrareddy; Laurie A Demmer; Eva W C Chow; Urvashi Surti; Swaroop Aradhya; Diane L Pickering; Denae M Golden; Warren G Sanger; Emily Aston; Arthur R Brothman; Troy J Gliem; Erik C Thorland; Todd Ackley; Ram Iyer; Shuwen Huang; John C Barber; John A Crolla; Stephen Warren; Christa Lese Martin; David Ledbetter
Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia.
American journal of human genetics 2010;87(5):618-30.
2010: Christopher W Carr; Daniel Moreno-De-Luca; Colette Parker; Holly H Zimmerman; Nikki Ledbetter; Christa Lese Martin; William B Dobyns; Omar A Abdul-Rahman
Chiari I malformation, delayed gross motor skills, severe speech delay, and epileptiform discharges in a child with FOXP1 haploinsufficiency.
European journal of human genetics : EJHG 2010;18(11):1216-20.
2010: David T Miller; Margaret P Adam; Swaroop Aradhya; Leslie G Biesecker; Arthur R Brothman; Nigel P Carter; Deanna M Church; John A Crolla; Evan E Eichler; Charles J Epstein; W Andrew Faucett; Lars Feuk; Jan M Friedman; Ada Hamosh; Laird Jackson; Erin B Kaminsky; Klaas Kok; Ian D Krantz; Robert M Kuhn; Charles Lee; James M Ostell; Carla Rosenberg; Stephen W Scherer; Nancy B Spinner; Dimitri J Stavropoulos; James H Tepperberg; Erik C Thorland; Joris R Vermeesch; Darrel J Waggoner; Michael S Watson; Christa Lese Martin; David Ledbetter
Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.
American journal of human genetics 2010;86(5):749-64.
2010: Damien L Bruno; Britt-Marie Anderlid; Anna Lindstrand; Conny van Ravenswaaij-Arts; Devika Ganesamoorthy; Johanna Lundin; Christa Lese Martin; Jessica Douglas; Catherine Nowak; Margaret P Adam; R Frank Kooy; Nathalie Van der Aa; Edwin Reyniers; Geert Vandeweyer; Irene Stolte-Dijkstra; Trijnie Dijkhuizen; Alison Yeung; Martin B Delatycki; Birgit Borgström; Lena Thelin; Carlos Cardoso; Bregje van Bon; Rolph Pfundt; Bert B A de Vries; Anders Wallin; David J Amor; Paul A James; Howard R Slater; Jacqueline Schoumans
Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes.
Journal of medical genetics 2010;47(5):299-311.
2010: Jamie K Davis; Josh J Lowman; Pamela J Thomas; Boudewijn F H ten Hallers; Maxim Koriabine; Lynn Y Huynh; Donna L Maney; Pieter J de Jong; Christa Lese Martin; James W Thomas
Evolution of a bitter taste receptor gene cluster in a New World sparrow.
Genome biology and evolution 2010;2():358-70.
2009: L R Rowe; J-Y Lee; L Rector; E B Kaminsky; A R Brothman; Christa Lese Martin; S T South
U-type exchange is the most frequent mechanism for inverted duplication with terminal deletion rearrangements.
Journal of medical genetics 2009;46(10):694-702.
2009: M Katharine Rudd; Julia Keene; Brian Bunke; Erin B Kaminsky; Margaret P Adam; Jennifer Gladys Mulle; David Ledbetter; Christa Lese Martin
Segmental duplications mediate novel, clinically relevant chromosome rearrangements.
Human molecular genetics 2009;18(16):2957-62.
2009: Katrina Tatton-Brown; Daniela T Pilz; Karen Helene Orstavik; Michael Patton; John C K Barber; Morag N Collinson; Vivienne K Maloney; Shuwen Huang; John A Crolla; Karen Marks; Eli Ormerod; Peter Thompson; Zafar Nawaz; Christa Lese Martin; Susan Tomkins; Paula Waits; Nazneen Rahman; Meriel McEntagart
15q overgrowth syndrome: a newly recognized phenotype associated with overgrowth, learning difficulties, characteristic facial appearance, renal anomalies and increased dosage of distal chromosome 15q.
American journal of medical genetics. Part A 2009;149A(2):147-54.
2009: Margaret P Adam; April N Justice; Susan Schelley; Andrea Kwan; Louanne Hudgins; Christa Lese Martin
Clinical utility of array comparative genomic hybridization: uncovering tumor susceptibility in individuals with developmental delay.
The Journal of pediatrics 2009;154(1):143-6.
2008: Xueya Hauge; Gordana Raca; Sara Cooper; Kristin May; Rhonda Spiro; Margaret Adam; Christa Lese Martin
Detailed characterization of, and clinical correlations in, 10 patients with distal deletions of chromosome 9p.
Genetics in medicine : official journal of the American College of Medical Genetics 2008;10(8):599-611.
2008: James W Thomas; Mario Cáceres; Joshua J Lowman; Caroline B Morehouse; Meghan E Short; Erin L Baldwin; Donna L Maney; Christa Lese Martin
The chromosomal polymorphism linked to variation in social behavior in the white-throated sparrow (Zonotrichia albicollis) is a complex rearrangement and suppressor of recombination.
Genetics 2008;179(3):1455-68.
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: Erin L Baldwin; Ji-Yun Lee; Douglas M Blake; Brian P Bunke; Chad R Alexander; Amy L Kogan; David Ledbetter; Christa Lese Martin
Enhanced detection of clinically relevant genomic imbalances using a targeted plus whole genome oligonucleotide microarray.
Genetics in medicine : official journal of the American College of Medical Genetics 2008;10(6):415-29.
2008: Christa Lese Martin; Shalini C Reshmi; Thomas Ried; William Gottberg; John W Wilson; Jaya K Reddy; Poornima Khanna; Jonas T Johnson; Eugene N Myers; Susanne M Gollin
Chromosomal imbalances in oral squamous cell carcinoma: examination of 31 cell lines and review of the literature.
Oral oncology 2008;44(4):369-82.
2008: Erin L Baldwin; Lorraine F May; April N Justice; Christa Lese Martin; David Ledbetter
Mechanisms and consequences of small supernumerary marker chromosomes: from Barbara McClintock to modern genetic-counseling issues.
American journal of human genetics 2008;82(2):398-410.
2008: Malgorzata J M Nowaczyk; Melissa T Carter; Jie Xu; Marlene Huggins; Gordana Raca; Soma Das; Christa Lese Martin; Stuart Schwartz; Robert Rosenfield; Darrel J Waggoner
Paternal deletion 6q24.3: a new congenital anomaly syndrome associated with intrauterine growth failure, early developmental delay and characteristic facial appearance.
American journal of medical genetics. Part A 2008;146(3):354-60.
2008: Gordana Raca; Lisa Schimmenti; Christa Lese Martin
Intrachromosomal duplications of 22q11 are not a common cause of isolated coloboma and coloboma with other limited features of cat eye syndrome.
American journal of medical genetics. Part A 2008;146(3):401-4.
2008: Maricela Alarcón; Brett S. Abrahams; Jennifer L Stone; Jacqueline Duvall; Julia V Perederiy; Jamee M Bomar; Jonathan Sebat; Michael Wigler; Christa Lese Martin; David Ledbetter; Stanley F Nelson; Rita M Cantor; Daniel Geschwind
Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene.
American journal of human genetics 2008;82(1):150-9.
2007: Dmitriy M Niyazov; Zafar Nawaz; April N Justice; Helga V Toriello; Christa Lese Martin; Margaret P Adam
Genotype/phenotype correlations in two patients with 12q subtelomere deletions.
American journal of medical genetics. Part A 2007;143A(22):2700-5.
2007: David Ledbetter; Christa Lese Martin
Cryptic telomere imbalance: a 15-year update.
American journal of medical genetics. Part C, Seminars in medical genetics 2007;145C(4):327-34.
2007: Christa Lese Martin; Jacqueline Duvall; Yesim Ilkin; Jason Simon; M Gladys Arreaza; Kristin Wilkes; Ana Alvarez-Retuerto; Amy Whichello; CM Powell; Kathleen W Rao; Edwin H Cook; Daniel Geschwind
Cytogenetic and molecular characterization of A2BP1/FOX1 as a candidate gene for autism.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2007;144B(7):869-76.
2007: Corrado Romano; Samantha J L Knight; Christa Lese Martin; Bert B A de Vries
3rd International Meeting on Cryptic Chromosomal Rearrangements in Mental Retardation and Autism.
European journal of human genetics : EJHG 2007;15(10):1098-101.
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: Christa Lese Martin; Zafar Nawaz; Erin L Baldwin; Elijah J Wallace; April N Justice; David Ledbetter
The evolution of molecular ruler analysis for characterizing telomere imbalances: from fluorescence in situ hybridization to array comparative genomic hybridization.
Genetics in medicine : official journal of the American College of Medical Genetics 2007;9(9):566-73.
2007: Jason S White; Joel L Weissfeld; C C R Ragin; Karen M Rossie; Christa Lese Martin; Michele Shuster; Chandra Ishwad; John C Law; Eugene N Myers; Jonas T Johnson; Susanne M Gollin
The influence of clinical and demographic risk factors on the establishment of head and neck squamous cell carcinoma cell lines.
Oral oncology 2007;43(7):701-12.
2007: Yuhei Nishimura; Christa Lese Martin; Araceli Vazquez-Lopez; Sarah J Spence; Ana Isabel Alvarez Retuerto; Marian Sigman; Corinna Steindler; Sandra Pellegrini; N Carolyn Schanen; Stephen Warren; Daniel Geschwind
Genome-wide expression profiling of lymphoblastoid cell lines distinguishes different forms of autism and reveals shared pathways.
Human molecular genetics 2007;16(14):1682-98.
2007: Jonathan Sebat; B Lakshmi; Dheeraj Malhotra; Jennifer Troge; Christa Lese Martin; Tom Walsh; Boris Yamrom; Seungtai Yoon; Alex Krasnitz; Jude Kendall; Anthony Leotta; Deepa Pai; Ray Zhang; Yoon-Ha Lee; James Hicks; Sarah J Spence; Annette T Lee; Kaija Puura; Terho Lehtimäki; David Ledbetter; Peter K Gregersen; Joel Bregman; James S Sutcliffe; Vaidehi Jobanputra; Wendy Chung; Dorothy Warburton; Mary-Claire King; David Skuse; Daniel Geschwind; T Conrad Gilliam; Qian Ye; Michael Wigler
Strong association of de novo copy number mutations with autism.
Science (New York, N.Y.) 2007;316(5823):445-9.
2007: Christa Lese Martin; David Ledbetter
Autism and cytogenetic abnormalities: solving autism one chromosome at a time.
Current psychiatry reports 2007;9(2):141-7.
2007: Peter Szatmari; Andrew D Paterson; Lonnie Zwaigenbaum; Wendy Roberts; Jessica Brian; Xiao-Qing Liu; John B Vincent; Jennifer L Skaug; Ann P Thompson; Lili Senman; Lars Feuk; Cheng Qian; Susan E Bryson; Marshall B Jones; Christian R Marshall; Stephen W Scherer; Veronica J Vieland; Christopher Bartlett; La Vonne Mangin; Rhinda Goedken; Alberto Segre; Margaret Pericak-Vance; Michael Cuccaro; John Gilbert; Harry H Wright; Ruth K Abramson; Catalina Betancur; Thomas Bourgeron; Christopher Gillberg; Marion Leboyer; Joseph Buxbaum; Kenneth L Davis; Eric Hollander; Jeremy Silverman; Joachim Hallmayer; Linda Lotspeich; James S Sutcliffe; Jonathan L Haines; Susan E Folstein; Joseph Piven; Thomas H Wassink; Val Sheffield; Daniel Geschwind; Maja Bucan; W Ted Brown; Rita M Cantor; John N Constantino; T Conrad Gilliam; Martha Herbert; Clara Lajonchere; David Ledbetter; Christa Lese Martin; Janet Miller; Stan Nelson; Carol A Samango-Sprouse; Sarah J Spence; Sate Matthew; Rudolph E Tanzi; Hilary Coon; Geraldine Dawson; Bernie Devlin; Annette Estes; Pamela Flodman; Lambertus Klei; William M McMahon; Nancy J Minshew; Jeffrey Munson; Elena Korvatska; Patricia M Rodier; Gerard D Schellenberg; Moyra Smith; M Anne Spence; Chris Stodgell; Ping Guo Tepper; Ellen M Wijsman; Chang-En Yu; Bernadette Rogé; Carine Mantoulan; Kerstin Wittemeyer; Annemarie Poustka; Bärbel Felder; Sabine M Klauck; Claudia Schuster; Fritz Poustka; Sven Bölte; Sabine Feineis-Matthews; Evelyn Herbrecht; Gabi Schmötzer; John Tsiantis; Katerina Papanikolaou; Elena Maestrini; Elena Bacchelli; Francesca Blasi; Simona Carone; Claudio Toma; Herman Van Engeland; Maretha de Jonge; Chantal Kemner; Frederieke Koop; Frederike Koop; Marjolein Langemeijer; Marjolijn Langemeijer; Channa Hijmans; Channa Hijimans; Wouter G Staal; Gillian Baird; Patrick Bolton; Michael L Rutter; Emma Weisblatt; Jonathan Green; Catherine Aldred; Julie-Anne Wilkinson; Andrew Pickles; Ann Le Couteur; Tom Berney; Helen McConachie; Anthony J Bailey; Kostas Francis; Gemma Honeyman; Aislinn Hutchinson; Jeremy R Parr; Simon Wallace; Anthony P Monaco; Gabrielle Barnby; Kazuhiro Kobayashi; Janine A Lamb; Ines Sousa; Nuala Sykes; Edwin H Cook; Stephen J Guter; Bennett L Leventhal; Jeff Salt; Catherine Lord; Christina Corsello; Vanessa Hus; Daniel E Weeks; Fred Volkmar; Maïté Tauber; Eric Fombonne; Andy Shih; Kacie J Meyer
Mapping autism risk loci using genetic linkage and chromosomal rearrangements.
Nature genetics 2007;39(3):319-28.
2006: Darrel J Waggoner; Christa Lese Martin
Integration of internet-based genetic databases into the medical school pre-clinical and clinical curriculum.
Genetics in medicine : official journal of the American College of Medical Genetics 2006;8(6):379-82.
2006: J. Britt Ravnan; James Tepperberg; Peter Papenhausen; A N Lamb; J Hedrick; D Eash; David Ledbetter; Christa Lese Martin
Subtelomere FISH analysis of 11 688 cases: an evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities.
Journal of medical genetics 2006;43(6):478-89.
2006: Fowzan S Alkuraya; Christa Lese Martin; Virginia E Kimonis
Recurrent miscarriage in a carrier of a balanced cytogenetically undetectable subtelomeric rearrangement: how many are we missing?
Prenatal diagnosis 2006;26(3):291-3.
2005: Darrel J Waggoner; Gordana Raca; Katherine Welch; Melissa A Dempsey; Ethan Anderes; Irina Ostrovnaya; Asem Alkhateeb; Junichi Kamimura; Naomichi Matsumoto; G Bradley Schaeffer; Christa Lese Martin; Soma Das
NSD1 analysis for Sotos syndrome: insights and perspectives from the clinical laboratory.
Genetics in medicine : official journal of the American College of Medical Genetics 2005;7(8):524-33.
2005: Hayley L Archer; S Gupta; S Enoch; Peter Thompson; Anthony W Rowbottom; I Chua; Stephen Warren; D Johnson; David Ledbetter; Christa Lese Martin; P Williams; Daniela T Pilz
Distinct phenotype associated with a cryptic subtelomeric deletion of 19p13.3-pter.
American journal of medical genetics. Part A 2005;136(1):38-44.
2005: D Eash; Darrel J Waggoner; J Chung; D Stevenson; Christa Lese Martin
Calibration of 6q subtelomere deletions to define genotype/phenotype correlations.
Clinical genetics 2005;67(5):396-403.
2005: Andrew Wong; Christa Lese Martin; Konstantina Heretis; Teresa Ruffalo; Kim Wilber; Walter King; David Ledbetter
Detection and calibration of microdeletions and microduplications by array-based comparative genomic hybridization and its applicability to clinical genetic testing.
Genetics in medicine : official journal of the American College of Medical Genetics 2005;7(4):264-71.
2005: Stephanie Mewborn; Christa Lese Martin; David Ledbetter
The dynamic nature and evolutionary history of subtelomeric and pericentromeric regions.
Cytogenetic and genome research 2005;108(1-3):22-5.
2004: Bing Huang; Christa Lese Martin; Constance J Sandlin; Shengbiao Wang; David Ledbetter
Mitotic and meiotic instability of a telomere association involving the Y chromosome.
American journal of medical genetics. Part A 2004;129A(2):120-3.
2004: Andrew Wong; Eric Vallender; Konstantina Heretis; Yesim Ilkin; Bruce T Lahn; Christa Lese Martin; David Ledbetter
Diverse fates of paralogs following segmental duplication of telomeric genes.
Genomics 2004;84(2):239-47.
2004: Anthony J Schaeffer; June Chung; Konstantina Heretis; Andrew Wong; David Ledbetter; Christa Lese Martin
Comparative genomic hybridization-array analysis enhances the detection of aneuploidies and submicroscopic imbalances in spontaneous miscarriages.
American journal of human genetics 2004;74(6):1168-74.
2003: Melissa B Ramocki; James Dowling; Inessa Grinberg; Virginia E Kimonis; Carlos Cardoso; Alyssa Gross; June Chung; Christa Lese Martin; David Ledbetter; William B Dobyns; Kathleen J Millen
Reciprocal fusion transcripts of two novel Zn-finger genes in a female with absence of the corpus callosum, ocular colobomas and a balanced translocation between chromosomes 2p24 and 9q32.
European journal of human genetics : EJHG 2003;11(7):527-34.
2003: Carlos Cardoso; Richard J Leventer; Heather L Ward; Kazuhito Toyo-Oka; June Chung; Alyssa Gross; Christa Lese Martin; Judith E Allanson; Daniela T Pilz; Ann H Olney; Osvaldo M Mutchinick; Shinji Hirotsune; Anthony Wynshaw-Boris; William B Dobyns; David Ledbetter
Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3.
American journal of human genetics 2003;72(4):918-30.
2002: Christa Lese Martin; Darrel J Waggoner; Andrew Wong; S Uhrig; Jessica A Roseberry; J F Hedrick; Svetlana D Pack; K Russell; E Zackai; William B Dobyns; David Ledbetter
"Molecular rulers" for calibrating phenotypic effects of telomere imbalance.
Journal of medical genetics 2002;39(10):734-40.
2002: Christa Lese Martin; Andrew Wong; Alyssa Gross; June Chung; Judy A Fantes; David Ledbetter
The evolutionary origin of human subtelomeric homologies--or where the ends begin.
American journal of human genetics 2002;70(4):972-84.
2002: Laurent Villard; Karine Nguyen; Carlos Cardoso; Christa Lese Martin; Ann M Weiss; Mara Sifry-Platt; Arthur W Grix; John M Graham; Robin M Winter; Richard J Leventer; William B Dobyns
A locus for bilateral perisylvian polymicrogyria maps to Xq28.
American journal of human genetics 2002;70(4):1003-8.
2002: Carlos Cardoso; Richard J Leventer; James Dowling; Heather L Ward; June Chung; Kristin S Petras; Jessica A Roseberry; Ann M Weiss; Soma Das; Christa Lese Martin; Daniela T Pilz; William B Dobyns; David Ledbetter
Clinical and molecular basis of classical lissencephaly: Mutations in the LIS1 gene (PAFAH1B1).
Human mutation 2002;19(1):4-15.
1996: Christa Lese Martin; John Gray Seiler; J S Lesesne
The cutaneous innervation of the palm: an anatomic study of the ulnar and median nerves.
The Journal of hand surgery 1996;21(4):634-8.