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Table of Contents
December 2018; 4 (6)
MINI-REVIEW
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Diagnosing rare diseases after the exome
Laure Frésard
and
Stephen B. Montgomery
Cold Spring Harb Mol Case Stud
December 2018,
4
:
a003392
Abstract
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RESEARCH ARTICLES
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High-frequency actionable pathogenic exome variants in an average-risk cohort
Shannon Rego
,
Orit Dagan-Rosenfeld
,
Wenyu Zhou
,
M. Reza Sailani
,
Patricia Limcaoco
,
Elizabeth Colbert
,
Monika Avina
,
Jessica Wheeler
,
Colleen Craig
,
Denis Salins
,
Hannes L. Röst
,
Jessilyn Dunn
,
Tracey McLaughlin
,
Lars M. Steinmetz
,
Jonathan A. Bernstein
,
and
Michael P. Snyder
Cold Spring Harb Mol Case Stud
December 2018,
4
:
a003178
;
Published in Advance
November 28, 2018
Abstract
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A unique de novo gain-of-function variant in
CAMK4
associated with intellectual disability and hyperkinetic movement disorder
Michael Zech
,
Daniel D. Lam
,
Sandrina Weber
,
Riccardo Berutti
,
Kamila Poláková
,
Petra Havránková
,
Anna Fečíková
,
Tim M. Strom
,
Evžen Růžička
,
Robert Jech
,
and
Juliane Winkelmann
Cold Spring Harb Mol Case Stud
December 2018,
4
:
a003293
;
Published in Advance
September 27, 2018
Abstract
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RESEARCH REPORTS
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A recurrent novel
MGA–NUTM1
fusion identifies a new subtype of high-grade spindle cell sarcoma
Daniel Diolaiti
,
Filemon S. Dela Cruz
,
Gunes Gundem
,
Nancy Bouvier
,
Mathieu Boulad
,
Yanming Zhang
,
Alexander J. Chou
,
Ira J. Dunkel
,
Rashesh Sanghvi
,
Minita Shah
,
Heather Geiger
,
Sadia Rahman
,
Vanessa Felice
,
Kazimierz O. Wrzeszczynski
,
Robert B. Darnell
,
Cristina R. Antonescu
,
Christopher A. French
,
Elli Papaemmanuil
,
Andrew L. Kung
,
and
Neerav Shukla
Cold Spring Harb Mol Case Stud
December 2018,
4
:
a003194
;
Published in Advance
December 14, 2018
Abstract
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Whole-genome and transcriptome profiling of a metastatic thyroid-like follicular renal cell carcinoma
Jenny J. Ko
,
Jasleen K. Grewal
,
Tony Ng
,
Jean-Michel Lavoie
,
My Linh Thibodeau
,
Yaoqing Shen
,
Andrew J. Mungall
,
Greg Taylor
,
Kasmintan A. Schrader
,
Steven J.M. Jones
,
Christian Kollmannsberger
,
Janessa Laskin
,
and
Marco A. Marra
Cold Spring Harb Mol Case Stud
December 2018,
4
:
a003137
;
Published in Advance
November 16, 2018
Abstract
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Identification of therapeutic targets in chordoma through comprehensive genomic and transcriptomic analyses
Winnie S. Liang
,
Christopher Dardis
,
Adrienne Helland
,
Shobana Sekar
,
Jonathan Adkins
,
Lori Cuyugan
,
Daniel Enriquez
,
Sara Byron
,
and
Andrew S. Little
Cold Spring Harb Mol Case Stud
December 2018,
4
:
a003418
;
Published in Advance
October 15, 2018
Abstract
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Detection of endometrial precancer by a targeted gynecologic cancer liquid biopsy
John A. Martignetti
,
Deep Pandya
,
Nimesh Nagarsheth
,
Ying Chen
,
Olga Camacho
,
Shannon Tomita
,
Michael Brodman
,
Charles Ascher-Walsh
,
Valentin Kolev
,
Samantha Cohen
,
Timothy T. Harkins
,
Eric E. Schadt
,
Boris Reva
,
Robert Sebra
,
and
Peter Dottino
Cold Spring Harb Mol Case Stud
December 2018,
4
:
a003269
;
Published in Advance
October 9, 2018
Abstract
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Whole-genome sequencing in a family with twin boys with autism and intellectual disability suggests multimodal polygenic risk
Brooke McKenna
,
Tanner Koomar
,
Kevin Vervier
,
Jamie Kremsreiter
,
and
Jacob J. Michaelson
Cold Spring Harb Mol Case Stud
December 2018,
4
:
a003285
Abstract
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Early-onset infant epileptic encephalopathy associated with a de novo
PPP3CA
gene mutation
Yanyan Qian
,
Bingbing Wu
,
Yulan Lu
,
Xinran Dong
,
Qian Qin
,
Wenhao Zhou
,
and
Huijun Wang
Cold Spring Harb Mol Case Stud
December 2018,
4
:
a002949
;
Published in Advance
November 19, 2018
Abstract
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Two myeloid leukemia cases with rare
FLT3
fusions
Haijiao Zhang
,
Aleksandra Paliga
,
Evie Hobbs
,
Stephen Moore
,
Susan Olson
,
Nicola Long
,
Kim-Hien T. Dao
,
and
Jeffrey W. Tyner
Cold Spring Harb Mol Case Stud
December 2018,
4
:
a003079
Abstract
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RAPID COMMUNICATIONS
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Novel Factor XIII variant identified through whole-genome sequencing in a child with intracranial hemorrhage
Benjamin Briggs
,
Kiely N. James
,
Shimul Chowdhury
,
Courtney Thornburg
,
Lauge Farnaes
,
David Dimmock
,
Stephen F. Kingsmore
,
and
on behalf of the RCIGM Investigators
Cold Spring Harb Mol Case Stud
December 2018,
4
:
a003525
;
Published in Advance
November 7, 2018
Abstract
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Complexities of genetic diagnosis illustrated by an atypical case of congenital hypoplastic anemia
David Claassen
,
Michelle Boals
,
Kevin M. Bowling
,
Gregory M. Cooper
,
Jennifer Cox
,
Michael Hershfield
,
Sara Lewis
,
Marcin Wlodarski
,
Mitchell J. Weiss
,
and
Jeremie H. Estepp
Cold Spring Harb Mol Case Stud
December 2018,
4
:
a003384
Abstract
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Concomitant diagnosis of immune deficiency and
Pseudomonas
sepsis in a 19 month old with ecthyma gangrenosum by host whole-genome sequencing
Erica Sanford
,
Lauge Farnaes
,
Serge Batalov
,
Matthew Bainbridge
,
Susan Laubach
,
H. Michael Worthen
,
Mari Tokita
,
Stephen F. Kingsmore
,
and
John Bradley
Cold Spring Harb Mol Case Stud
December 2018,
4
:
a003244
Abstract
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RAPID CANCER COMMUNICATION
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A case of
KMT2A–SEPT9
fusion–associated acute megakaryoblastic leukemia
Christopher J. Forlenza
,
Yanming Zhang
,
JinJuan Yao
,
Ryma Benayed
,
Peter Steinherz
,
Kavitha Ramaswamy
,
Rachel Kessel
,
Mikhail Roshal
,
and
Neerav Shukla
Cold Spring Harb Mol Case Stud
December 2018,
4
:
a003426
;
Published in Advance
November 19, 2018
Abstract
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This Issue
December 2018;
4
(6)
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MINI-REVIEW
RESEARCH ARTICLES
RESEARCH REPORTS
RAPID COMMUNICATIONS
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