R
Roger L. Ladda
Researcher at Boston Children's Hospital
Publications - 94
Citations - 3362
Roger L. Ladda is an academic researcher from Boston Children's Hospital. The author has contributed to research in topics: Epidermal growth factor & Receptor. The author has an hindex of 29, co-authored 92 publications receiving 3102 citations. Previous affiliations of Roger L. Ladda include Pennsylvania State University & Children's Hospital of Philadelphia.
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Journal ArticleDOI
Identity-by-descent and association mapping of a recessive gene for Hirschsprung disease on human chromosome 13q22.
Erik G. Puffenberger,Erick R.Kauffman,Stacey Bolk,Tara C. Matise,Sarah S. Washington,Misha Angrist,Jean Weissenbach,Kenneth L.Garver,Maria J. Mascari,Roger L. Ladda,Susan A.SIaugenhaupt,Aravinda Chakravarti,Aravinda Chakravarti +12 more
TL;DR: A large, inbred, Mennonite kindred which demonstrates a high incidence of Hirschsprung disease is ascertained and preliminary evidence for a genetic modifier of HSCR in this kindred on chromosome 21q22 is revealed.
Journal ArticleDOI
The frequency of uniparental disomy in Prader-Willi syndrome. Implications for molecular diagnosis.
Maria J. Mascari,Wayne Gottlieb,Peter K. Rogan,Merlin G. Butler,David A. Waller,John A.L. Armour,Alec J. Jeffreys,Roger L. Ladda,Robert D. Nicholls +8 more
TL;DR: In this article, the frequency of maternal uniparental disomy in Prader-Willi syndrome was determined using molecular genetic techniques, using DNA markers within 15q11q13 and elsewhere on chromosome 15 in 30 patients who had no cytogenetically visible deletion.
Journal ArticleDOI
Hereditary factors in sleepwalking and night terrors.
Anthony Kales,Constantin R. Soldatos,Edward O. Bixler,Roger L. Ladda,Dennis S. Charney,Gary Weber,Paula K. Schweitzer +6 more
TL;DR: The data appear to fit a 'two threshold' multifactorial mode of inheritance, which supports the hypothesis that sleepwalking and night terrors share a common genetic predisposition, with sleepwalking being a more prevalent and less severe manifestation of the same substrate that underliesNight terrors.
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The impact of antibodies on clinical outcomes in diseases treated with therapeutic protein: Lessons learned from infantile Pompe disease
Suhrad G. Banugaria,Sean N. Prater,Yiu Ki Ng,Joyce A. Kobori,Richard S. Finkel,Roger L. Ladda,Yuan-Tsong Chen,Amy S. Rosenberg,Priya S. Kishnani +8 more
TL;DR: It is indicated that, irrespective of crossreactive immunologic material status, patients with infantile Pompe disease with high sustained antibody titer have an attenuated therapeutic response to enzyme replacement therapy.
Journal ArticleDOI
Exonic Deletions in AUTS2 Cause a Syndromic Form of Intellectual Disability and Suggest a Critical Role for the C Terminus
Gea Beunders,Els Voorhoeve,Christelle Golzio,Luba M. Pardo,Jill A. Rosenfeld,Michael E. Talkowski,Michael E. Talkowski,Ingrid Simonic,Anath C. Lionel,Anath C. Lionel,Sarah Vergult,Robert E. Pyatt,Robert E. Pyatt,Jiddeke M. van de Kamp,Aggie W. M. Nieuwint,Marjan M. Weiss,Patrizia Rizzu,Lucilla E.N.I. Verwer,Rosalina M. L. van Spaendonk,Yiping Shen,Yiping Shen,Yiping Shen,Bai-Lin Wu,Bai-Lin Wu,Tingting Yu,Tingting Yu,Yongguo Yu,Yongguo Yu,Colby Chiang,James F. Gusella,James F. Gusella,Amelia M. Lindgren,Amelia M. Lindgren,Cynthia C. Morton,Cynthia C. Morton,Cynthia C. Morton,Ellen van Binsbergen,Saskia Bulk,Els Van Rossem,Olivier Vanakker,Ruth Armstrong,Soo Mi Park,Lynn Greenhalgh,Una Maye,Nicholas J. Neill,Kristin M. Abbott,Susan Sell,Roger L. Ladda,Darren Farber,Patricia I. Bader,Tom Cushing,Joanne M. Drautz,Laura Konczal,Patricia L. Nash,Emily de los Reyes,Melissa T. Carter,Elizabeth Hopkins,Christian R. Marshall,Christian R. Marshall,Lucy R. Osborne,Karen W. Gripp,Devon Lamb Thrush,Devon Lamb Thrush,Sayaka Hashimoto,Julie M. Gastier-Foster,Julie M. Gastier-Foster,Caroline Astbury,Caroline Astbury,Bauke Ylstra,Hanne Meijers-Heijboer,Danielle Posthuma,Danielle Posthuma,Danielle Posthuma,Björn Menten,Geert Mortier,Stephen W. Scherer,Stephen W. Scherer,Evan E. Eichler,Santhosh Girirajan,Santhosh Girirajan,Nicholas Katsanis,Alexander J. Groffen,Alexander J. Groffen,Erik A. Sistermans +83 more
TL;DR: The observations demonstrate a causal role of AUTS2 in neurocognitive disorders, establish a hitherto unappreciated syndromic phenotype at this locus, and show how transcriptional complexity can underpin human pathology.