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Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype–phenotype correlations and common mechanisms

  • Maninder Kaur
  • , Justin Blair
  • , Batsal Devkota
  • , Sierra Fortunato
  • , Dinah Clark
  • , Audrey Lawrence
  • , Jiwoo Kim
  • , Wonwook Do
  • , Benjamin Semeo
  • , Olivia Katz
  • , Devanshi Mehta
  • , Nobuko Yamamoto
  • , Emma Schindler
  • , Zayd Al Rawi
  • , Nina Wallace
  • , Jonathan J. Wilde
  • , Jennifer McCallum
  • , Jinglan Liu
  • , Dongbin Xu
  • , Marie Jackson
    • Stefan Rentas, Ahmad Abou Tayoun, Zhang Zhe, Omar Abdul-Rahman, Bill Allen, Moris A. Angula, Kwame Anyane-Yeboa, Jesús Argente, Pamela H. Arn, Linlea Armstrong, Lina Basel-Salmon, Gareth Baynam, Lynne M. Bird, Daniel Bruegger, Gaik Siew Ch'ng, David Chitayat, Robin Clark, Gerald F. Cox, Usha Dave, Elfrede DeBaere, Michael Field, John M. Graham, Karen W. Gripp, Robert Greenstein, Neerja Gupta, Randy Heidenreich, Jodi Hoffman, Robert J. Hopkin, Kenneth L. Jones, Marilyn C. Jones, Ariana Kariminejad, Jillene Kogan, Baiba Lace, Julian Leroy, Sally Ann Lynch, Marie McDonald, Kirsten Meagher, Nancy Mendelsohn, Ieva Micule, John Moeschler, Sheela Nampoothiri, Kaoru Ohashi, Cynthia M. Powell, Subhadra Ramanathan, Salmo Raskin, Elizabeth Roeder, Marlene Rio, Alan F. Rope, Karan Sangha, Angela E. Scheuerle, Adele Schneider, Stavit Shalev, Victoria Siu, Rosemarie Smith, Cathy Stevens, Tinatin Tkemaladze, John Toimie, Helga Toriello, Anne Turner, Patricia G. Wheeler, Susan M. White, Terri Young, Kathleen M. Loomes, Mary Pipan, Ann Tokay Harrington, Elaine Zackai, Ramakrishnan Rajagopalan, Laura Conlin, Matthew A. Deardorff, Deborah McEldrew, Juan Pie, Feliciano Ramos, Antonio Musio, Antonie D. Kline, Kosuke Izumi, Sarah E. Raible, Ian D. Krantz*
*Corresponding author for this work
  • The Children's Hospital of Philadelphia
  • Illumina, Inc.
  • Natera, Inc
  • National Center for Child Health and Development
  • Emugen Therapeutics
  • University of Pennsylvania
  • Thomas Jefferson University
  • HematoLogics Inc
  • Duke University
  • Al Jalila Children’s Specialty Hospital
  • Mohammed Bin Rashid University of Medicine and Health Sciences
  • University of Nebraska Medical Center
  • Mission Health
  • Winthrop Pulmonary and Critical Care Associates
  • Columbia University
  • Hospital Infantil Universitario Nino Jesus de Madrid
  • Centro de Investigación Biomédica en Red
  • Nemours Children's Health System
  • University of British Columbia
  • British Columbia Women's Hospital
  • Rabin Medical Center Israel
  • King Edward Memorial Hospital for Women
  • University of Western Australia
  • Perth Childrens Hospital
  • University of California at San Diego
  • Rady Children's Hospital
  • University of Kansas
  • Kuala Lumpur Hospital
  • University of Toronto
  • Loma Linda University Health
  • Boston Children's Hospital
  • R & D MILS International India
  • Ghent University
  • Hunter Health
  • Cedars-Sinai Medical Center
  • University of Connecticut
  • All India Institute of Medical Sciences, New Delhi
  • University of New Mexico
  • Boston University
  • University of Cincinnati
  • Kariminejad-Najmabadi Pathology and Genetics Center
  • Advocate Children's Hospital
  • Children's Clinical University Hospital
  • Children’s Health Ireland
  • UnitedHealth Group
  • Dartmouth College
  • Amrita Vishwa Vidyapeetham
  • University of North Carolina at Chapel Hill
  • Genetika—Centro de aconselhamento e laboratório de genética
  • Baylor College of Medicine
  • Université Paris Cité
  • Genome Medical, Inc.
  • University of Texas Southwestern Medical Center
  • Wills Eye Hospital
  • Technion-Israel Institute of Technology
  • London Health Sciences Centre
  • Western University
  • Maine Medical Center
  • University of Tennessee Health Science Center
  • Tbilisi State Medical University
  • NHS Greater Glasgow and Clyde
  • Michigan State University
  • Sydney Children's Hospital
  • Orlando Regional Medical Center
  • Murdoch Children's Research Institute
  • University of Melbourne
  • University of Wisconsin-Madison
  • Research to Prevent Blindness Inc
  • University of Southern California
  • University of Zaragoza
  • Hospital Clínico Universitario Lozano Blesa
  • National Research Council of Italy
  • Harvey Institute of Human Genetics

Research output: Contribution to journal › Article › peer-review

35 Scopus citations

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Biochemistry, Genetics and Molecular Biology