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

Kaur, M., Blair, J., Devkota, B., Fortunato, S., Clark, D., Lawrence, A., Kim, J., Do, W., Semeo, B., Katz, O., Mehta, D., Yamamoto, N., Schindler, E., Al Rawi, Z., Wallace, N., Wilde, J. J., McCallum, J., Liu, J., Xu, D., … Krantz, I. D. (2023). Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype–phenotype correlations and common mechanisms. American Journal of Medical Genetics Part A, 191(8), 2113–2131. Portico. https://doi.org/10.1002/ajmg.a.63247
Authors:
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
Affiliated Authors:
Kwame Anyane-Yeboa
Subjects:
Author Keywords:
cdls
cohesin
cornelia de lange syndrome
genome
hdac8
nipbl
rad21
smc1a
smc3
transcription
Publication Type:
Article
Unique ID:
10.1002/ajmg.a.63247
PMID:
Publication Date:
Data Source:
PubMed

Record Created: