Table of Contents

MINI-REVIEW

Select this article
Diagnosing rare diseases after the exome
- Laure Frésard and
- Stephen B. Montgomery
Cold Spring Harb Mol Case Stud December 2018, 4: a003392

RESEARCH ARTICLES

Select this article
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
Select this article
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

RESEARCH REPORTS

Select this article
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
Select this article
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
Select this article
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
Select this article
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
Select this article
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
Select this article
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
Select this article
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

RAPID COMMUNICATIONS

Select this article
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
Select this article
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
Select this article
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

RAPID CANCER COMMUNICATION

Select this article
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

MINI-REVIEW

Diagnosing rare diseases after the exome

RESEARCH ARTICLES

High-frequency actionable pathogenic exome variants in an average-risk cohort

A unique de novo gain-of-function variant in CAMK4 associated with intellectual disability and hyperkinetic movement disorder

RESEARCH REPORTS

A recurrent novel MGA–NUTM1 fusion identifies a new subtype of high-grade spindle cell sarcoma

Whole-genome and transcriptome profiling of a metastatic thyroid-like follicular renal cell carcinoma

Identification of therapeutic targets in chordoma through comprehensive genomic and transcriptomic analyses

Detection of endometrial precancer by a targeted gynecologic cancer liquid biopsy

Whole-genome sequencing in a family with twin boys with autism and intellectual disability suggests multimodal polygenic risk

Early-onset infant epileptic encephalopathy associated with a de novo PPP3CA gene mutation

Two myeloid leukemia cases with rare FLT3 fusions

RAPID COMMUNICATIONS

Novel Factor XIII variant identified through whole-genome sequencing in a child with intracranial hemorrhage

Complexities of genetic diagnosis illustrated by an atypical case of congenital hypoplastic anemia

Concomitant diagnosis of immune deficiency and Pseudomonas sepsis in a 19 month old with ecthyma gangrenosum by host whole-genome sequencing

RAPID CANCER COMMUNICATION

A case of KMT2A–SEPT9 fusion–associated acute megakaryoblastic leukemia

This Issue

In the News

Current Issue

Featured Articles