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Swaroop Aradhya

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Mohamed Khalifa; Jeanne Meck; Valery Nelson; Jennifer Stein; Swaroop Aradhya; Lance Grau; John Duby
Partial deletion of ANKRD11 results in the KBG phenotype distinct from the 16q24.3 microdeletion syndrome.
Matthew R Greives; Tong-Chuan He; Allison Mitchell; Eric A Odessey; Deana S Shenaq; Darrel J Waggoner; Neil Warshawsky; Emma Whitcomb; Swaroop Aradhya; Russell R Reid
RUNX2 quadruplication: additional evidence toward a new form of syndromic craniosynostosis.
Kavita S Reddy; George Tiller; Sridevi Abboy; Swaroop Aradhya; Jeanne Meck; Harold Bass
A systematic analysis of small supernumerary marker chromosomes using array CGH exposes unexpected complexity.

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2013: Mohamed Khalifa; Jeanne Meck; Valery Nelson; Jennifer Stein; Swaroop Aradhya; Lance Grau; John Duby
Partial deletion of ANKRD11 results in the KBG phenotype distinct from the 16q24.3 microdeletion syndrome.
American journal of medical genetics. Part A 2013;161(4):835-40.
2013: Matthew R Greives; Tong-Chuan He; Allison Mitchell; Eric A Odessey; Deana S Shenaq; Darrel J Waggoner; Neil Warshawsky; Emma Whitcomb; Swaroop Aradhya; Russell R Reid
RUNX2 quadruplication: additional evidence toward a new form of syndromic craniosynostosis.
The Journal of craniofacial surgery 2013;24(1):126-9.
2013: Kavita S Reddy; George Tiller; Sridevi Abboy; Swaroop Aradhya; Jeanne Meck; Harold Bass
A systematic analysis of small supernumerary marker chromosomes using array CGH exposes unexpected complexity.
Genetics in medicine : official journal of the American College of Medical Genetics 2013;15(1):3-13.
2012: Cheryl DeScipio; Jennifer Goldstein; Y Hilhorst-Hofstee; Darlene Ho; Marie-Claude Addor; Swaroop Aradhya; Dinah Clark; Laura Conlin; Danielle Martinet; Thornton B A Mason; Marie T McDonald; Marianne McGuire; Livija Medne; Surabhi Mulchandani; Romela Pasion; Ankita Patel; Jill Rosenfeld; Claudia Ruivenkamp; Rosemarie Rupps; Alvaro H Serrano; Nancy B Spinner; James Tepperberg; Erik C Thorland; Anne C-H Tsai; Hilde Van Esch; Ian D Krantz
Subtelomeric deletion of chromosome 10p15.3: clinical findings and molecular cytogenetic characterization.
American journal of medical genetics. Part A 2012;158A(9):2152-61.
2012: Judith E Allanson; Swaroop Aradhya; Emilia Bijlsma; Kym Boycott; Dennis Bulman; Susan F Crocker; Bruno Dallapiccola; Emilio Donti; David Fitzpatrick; Heather Hare; Bertrand Isidor; Olga Jarinova; Katherine Lachlan; Cédric Le Caignec; Jean McGowan-Jordan; Paolo Prontera; Annick Raas-Rothschild; Daniela Rogaia; Amanda Smith; Bregje van Bon; Beate Albrecht; Christina Ringmann Fagerberg
Nablus mask-like facial syndrome: deletion of chromosome 8q22.1 is necessary but not sufficient to cause the phenotype.
American journal of medical genetics. Part A 2012;158A(9):2091-9.
2012: Dagur Ingi Jonsson; Swaroop Aradhya; Helga Hauksdottir; Petur Ludvigsson; Sunna Sigurdardottir; Margret Steinarsdottir; Jon Johannes Jonsson
A de novo 1.13 Mb microdeletion in 12q13.13 associated with congenital distal arthrogryposis, intellectual disability and mild dysmorphism.
European journal of medical genetics 2012;55(6-7):437-40.
2012: Jodi Warman Chardon; Delphine Héron; Anna Kaminska; Boris Keren; Cyril Mignot; Alexandra Afenjar; Swaroop Aradhya; Cherif Beldjord; Kym M Boycott
Deletion of filamin A in two female patients with periventricular nodular heterotopia.
American journal of medical genetics. Part A 2012;158A(6):1512-6.
2012: Swaroop Aradhya; Barbara Boggs; Tahrra Bonaga; John G Compton; Kathleen Hruska; Rachel Lewis; Nnenna Nwokekeh; Gabriele Richard; Nizar Smaoui; Amanda Stafford; Sharon Suchy
Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders.
Genetics in medicine : official journal of the American College of Medical Genetics 2012;14(6):594-603.
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: Brian H Y Chung; Lucie Dupuis; Sarah H Elsea; Chumei Li; Anath C Lionel; Christian R Marshall; Sureni Mullegama; Stephen W Scherer; D James Stavropoulos; Rosanna Weksberg; Swaroop Aradhya; Lauren Brick; Roberto Mendoza-Londono
Severe intellectual disability and autistic features associated with microduplication 2q23.1.
European journal of human genetics : EJHG 2012;20(4):398-403.
2012: Eric A Muller; Subhadra Ramanathan; David A Stevenson; David Wayne Stockton; Emma Kivuva; Swaroop Aradhya; Joan F Atkin; Erin P Carmany; Albert E Chudley; Robin D Clark; Alison M Elliott; David B Everman; Shannon Garner; Bryan D Hall; Gail E Herman; Louanne Hudgins
Microdeletion 9q22.3 syndrome includes metopic craniosynostosis, hydrocephalus, macrosomia, and developmental delay.
American journal of medical genetics. Part A 2012;158A(2):391-9.
2011: Vazken M Der Kaloustian; Gabriele Richard; Bernard Rosenblatt; Laura Russell; Swaroop Aradhya; Serge Melançon
A de novo 2.1-Mb deletion of 13q12.11 in a child with developmental delay and minor dysmorphic features.
American journal of medical genetics. Part A 2011;155A(10):2538-42.
2011: Swaroop Aradhya; Nizar Smaoui; Michael Marble; Yves Lacassie
De novo duplication 11p13 involving the PAX6 gene in a patient with neonatal seizures, hypotonia, microcephaly, developmental disability and minor ocular manifestations.
American journal of medical genetics. Part A 2011;155A(2):442-4.
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.
2008: Amélie Piton; Jacques L Michaud; Huashan Peng; Swaroop Aradhya; Julie Gauthier; Laurent Mottron; Nathalie Champagne; Ronald G Lafrenière; Fadi F Hamdan; Ridha Joober; Eric Fombonne; Claude Marineau; Patrick Cossette; Marie-Pierre Dubé; Pejmun Haghighi; Pierre Drapeau; Philip A Barker; Salvatore Carbonetto; Guy Rouleau
Mutations in the calcium-related gene IL1RAPL1 are associated with autism.
Human molecular genetics 2008;17(24):3965-74.
2007: Will P Walker; Swaroop Aradhya; Che-Lin Hu; Shiliang Shen; Wei Zhang; Arezou Azarani; Xin Yun Lu; Gregory S Barsh; Teresa M Gunn
Genetic analysis of attractin homologs.
Genesis (New York, N.Y. : 2000) 2007;45(12):744-56.
2007: Swaroop Aradhya; Athena M Cherry
Array-based comparative genomic hybridization: clinical contexts for targeted and whole-genome designs.
Genetics in medicine : official journal of the American College of Medical Genetics 2007;9(9):553-9.
2007: Swaroop Aradhya; Melanie A Manning; Alessandra Splendore; Athena M Cherry
Whole-genome array-CGH identifies novel contiguous gene deletions and duplications associated with developmental delay, mental retardation, and dysmorphic features.
American journal of medical genetics. Part A 2007;143A(13):1431-41.
2006: Joseph T C Shieh; Swaroop Aradhya; Antonio Novelli; Melanie A Manning; Athena M Cherry; Janet Brumblay; Carmelo Damiano Salpietro; Laura Bernardini; Bruno Dallapiccola; H Eugene Hoyme
Nablus mask-like facial syndrome is caused by a microdeletion of 8q detected by array-based comparative genomic hybridization.
American journal of medical genetics. Part A 2006;140(12):1267-73.
2006: Kelly A McGowan; Swaroop Aradhya; Helmut Fuchs; Martin Hrabé De Angelis; Gregory S Barsh
A mouse keratin 1 mutation causes dark skin and epidermolytic hyperkeratosis.
The Journal of investigative dermatology 2006;126(5):1013-6.
2002: Takanori Yamagata; Swaroop Aradhya; Masato Mori; Ken Inoue; Mariko Y Momoi; David L Nelson
The human secretin gene: fine structure in 11p15.5 and sequence variation in patients with autism.
Genomics 2002;80(2):185-94.
2002: Swaroop Aradhya; Hayley Woffendin; Penelope E Bonnen; Nina S Heiss; Takanori Yamagata; Teresa Esposito; Tiziana Bardaro; Annemarie Poustka; Michele D'Urso; Sue Kenwrick; David L Nelson
Physical and genetic characterization reveals a pseudogene, an evolutionary junction, and unstable loci in distal Xq28.
Genomics 2002;79(1):31-40.
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: Swaroop Aradhya; Tiziana Bardaro; P Galgóczy; Takanori Yamagata; Teresa Esposito; H Patlan; Alfredo Ciccodicola; Arnold Munnich; Sue Kenwrick; Matthias Platzer; Michele D'Urso; David L Nelson
Multiple pathogenic and benign genomic rearrangements occur at a 35 kb duplication involving the NEMO and LAGE2 genes.
Human molecular genetics 2001;10(22):2557-67.
2001: Swaroop Aradhya; Hayley Woffendin; Tracy J Jakins; Tiziana Bardaro; Teresa Esposito; Asma Smahi; Chad Shaw; M Levy; Arnold Munnich; Michele D'Urso; R A Lewis; Sue Kenwrick; David L Nelson
A recurrent deletion in the ubiquitously expressed NEMO (IKK-gamma) gene accounts for the vast majority of incontinentia pigmenti mutations.
Human molecular genetics 2001;10(19):2171-9.
2001: Swaroop Aradhya; David L Nelson
NF-kappaB signaling and human disease.
Current opinion in genetics & development 2001;11(3):300-6.
2001: Swaroop Aradhya; Gilles Courtois; Aleksandar Rajkovic; R A Lewis; M Levy; Alain Israël; David L Nelson
Atypical forms of incontinentia pigmenti in male individuals result from mutations of a cytosine tract in exon 10 of NEMO (IKK-gamma).
American journal of human genetics 2001;68(3):765-71.
2000: Swaroop Aradhya; P Ahobila; R A Lewis; David L Nelson; Teresa Esposito; Alfredo Ciccodicola; Tiziana Bardaro; Michele D'Urso; Hayley Woffendin; Sue Kenwrick; Asma Smahi; Solange Heuertz; Arnold Munnich; Nina S Heiss; Annemarie Poustka; Athar H Chishti
Filamin (FLN1), plexin (SEX), major palmitoylated protein p55 (MPP1), and von-Hippel Lindau binding protein (VBP1) are not involved in incontinentia pigmenti type 2.
American journal of medical genetics 2000;94(1):79-84.
2000: Asma Smahi; Gilles Courtois; Pierre VABRES; Shoji Yamaoka; Solange Heuertz; Arnold Munnich; Alain Israël; Nina S Heiss; Sabine M Klauck; Petra Kioschis; S Wiemann; Annemarie Poustka; Teresa Esposito; Tiziana Bardaro; Fernando Gianfrancesco; Alfredo Ciccodicola; Michele D'Urso; Hayley Woffendin; Tracy J Jakins; Dian Donnai; H Stewart; Sue Kenwrick; Swaroop Aradhya; Takanori Yamagata; M Levy; R A Lewis; David L Nelson
Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium.
Nature 2000;405(6785):466-72.
2000: Swaroop Aradhya; David L Nelson; Nina S Heiss; Annemarie Poustka; Hayley Woffendin; Sue Kenwrick; Teresa Esposito; Alfredo Ciccodicola; Tiziana Bardaro; Michele D'Urso; Asma Smahi; Arnold Munnich; G E Herman; Richard Alan Lewis
Human homologue of the murine bare patches/striated gene is not mutated in incontinentia pigmenti type 2.
American journal of medical genetics 2000;91(3):241-4.
1999: Nina S Heiss; Annemarie Poustka; Stuart W Knight; Swaroop Aradhya; David L Nelson; R A Lewis; Teresa Esposito; Alfredo Ciccodicola; Michele D'Urso; Asma Smahi; Solange Heuertz; Arnold Munnich; Pierre VABRES; Hayley Woffendin; Sue Kenwrick
Mutation analysis of the DKC1 gene in incontinentia pigmenti.
Journal of medical genetics 1999;36(11):860-2.