L
Luis F. Escobar
Researcher at Boston Children's Hospital
Publications - 40
Citations - 2542
Luis F. Escobar is an academic researcher from Boston Children's Hospital. The author has contributed to research in topics: Exome sequencing & Haploinsufficiency. The author has an hindex of 18, co-authored 36 publications receiving 2152 citations. Previous affiliations of Luis F. Escobar include St Vincent Hospital.
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Journal ArticleDOI
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay
Santhosh Girirajan,Jill A. Rosenfeld,Gregory M. Cooper,Francesca Antonacci,Priscillia Siswara,Andy Itsara,Laura Vives,Tom Walsh,Shane 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 Farber,Gordon C. Gowans,Jessica J. Wetherbee,Alexander Asamoah,David D. Weaver,Paul R. Mark,Jennifer Dickerson,Bhuwan P. Garg,Sara Ellingwood,Rosemarie Smith,Valerie Banks,Wendy E. 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 A. Salbert,Yves Lacassie,Alisha Biser,Donna M. McDonald-McGinn,Elaine H. Zackai,Matthew A. Deardorff,Tamim H. Shaikh,Eric Haan,Eric Haan,Kathryn Friend,Marco Fichera,Corrado Romano,Jozef Gecz,Jozef Gecz,Lynn E. DeLisi,Lynn E. DeLisi,Jonathan Sebat,Mary Claire King,Lisa G. Shaffer,Evan E. Eichler +61 more
TL;DR: The data support a two-hit model in which the 16p12.1 microdeletion both predisposes to neuropsychiatric phenotypes as a single event and exacerbates neurodevelopmental phenotypes in association with other large deletions or duplications.
Journal ArticleDOI
Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants
Santhosh Girirajan,Jill A. Rosenfeld,Bradley P. Coe,Sumit Parikh,Neil R. Friedman,Amy Goldstein,Robyn A. Filipink,Juliann Mcconnell,Brad Angle,Wendy S. Meschino,Marjan M. Nezarati,Alexander Asamoah,Kelly E. Jackson,Gordon C. Gowans,Judith A. Martin,Erin P. Carmany,David W. Stockton,Rhonda E. Schnur,Lynette S. Penney,Donna M. Martin,Salmo Raskin,Kathleen A. Leppig,Heidi Thiese,Rosemarie Smith,Erika Aberg,Dmitriy Niyazov,Luis F. Escobar,Dima El-Khechen,Kisha D. Johnson,Robert Roger Lebel,Kiana Siefkas,Susie Ball,Natasha Shur,Marianne McGuire,Campbell K. Brasington,J. Edward Spence,Laura S. Martin,Carol L. Clericuzio,Blake C. Ballif,Lisa G. Shaffer,Evan E. Eichler +40 more
TL;DR: It is found that syndromic disorders could be distinguished from those with extreme phenotypic heterogeneity on the basis of the total number of copy-number variants and whether the variants are inherited or de novo.
Journal ArticleDOI
Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication.
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 T. McDonald,Lindsey Campbell,Jeffrey E. Ming,Elaine H. Zackai,Bassem A. Bejjani,Bassem A. Bejjani,Lisa G. Shaffer +16 more
TL;DR: This report demonstrates that array CGH is especially suited to identify chromosome abnormalities with unclear or variable presentations, as well as identifying de novo and inherited abnormalities in both the microdeletion and microduplication cohorts.
Journal ArticleDOI
Reanalysis of Clinical Exome Sequencing Data
Pengfei Liu,Linyan Meng,Elizabeth A. Normand,Fan Xia,Xiaofei Song,Andrew R. Ghazi,Jill A. Rosenfeld,Pilar L. Magoulas,Alicia Braxton,Patricia A. Ward,Hongzheng Dai,Bo Yuan,Weimin Bi,Rui Xiao,Xia Wang,Theodore Chiang,Francesco Vetrini,Weimin He,Hanyin Cheng,Jie Dong,Charul Gijavanekar,Paul J. Benke,Jonathan A. Bernstein,Tanya N. Eble,Yasemen Eroglu,Deanna J. Erwin,Luis F. Escobar,James B. Gibson,Karen W. Gripp,Soledad Kleppe,Mary Kay Koenig,Andrea M. Lewis,Marvin R. Natowicz,Pedro Mancias,La Keesha Minor,Fernando Scaglia,Christian P. Schaaf,Haley Streff,Hilary J. Vernon,Crescenda L. Uhles,Elaine H. Zackai,Nan Wu,V. Reid Sutton,Arthur L. Beaudet,Donna M. Muzny,Richard A. Gibbs,Jennifer E. Posey,Seema R. Lalani,Chad A. Shaw,Christine M. Eng,James R. Lupski,Yaping Yang +51 more
TL;DR: Reanalysis of Clinical Exome Data and Diagnostic Yield As knowledge about genetic causes of disease improves, periodic reanalysis of clinical exome sequence could yield new genetic information.
Journal ArticleDOI
Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome.
Ludwine Messiaen,S. Yao,Hilde Brems,Tom Callens,Achara Sathienkijkanchai,Ellen Denayer,Emily Spencer,Pamela Arn,Dusica Babovic-Vuksanovic,Carolyn Bay,Gary Bobele,Bruce H. Cohen,Luis F. Escobar,Deborah L. Eunpu,Theresa A. Grebe,Robert M. Greenstein,Rachel K. Hachen,Mira Irons,David Kronn,Edmond G. Lemire,Kathleen A. Leppig,Cynthia Lim,Marie T. McDonald,Vinodh Narayanan,Amy Pearn,Robert Pedersen,Berkley R. Powell,Lawrence R. Shapiro,David Skidmore,David Tegay,Heidi Thiese,Elaine H. Zackai,Raymon Vijzelaar,Koji Taniguchi,Koji Taniguchi,Toranoshin Ayada,Fuyuki Okamoto,Akihiko Yoshimura,Akihiko Yoshimura,Annabel H. A. Parret,Bruce R. Korf,Eric Legius +41 more
TL;DR: A high SPRED1 mutation detection rate was found in NF1 mutation-negative families with an autosomal dominant phenotype of CALMs with or without freckling and no other NF1 features, and NFLS was not associated with the peripheral and central nervous system tumors seen inNF1.