Author details

Full Name

Zaheer Valivullah

Affiliation

Center for Mendelian Genomics, Broad Institute of MIT and Harvard

ORCID

Career Start Year

2015

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
35393337	<i>FXR1</i>-related congenital myopathy: expansion of the clinical and genetic spectrum.	J Med Genet	2022
32843486	A novel homozygous variant in <i>TRAPPC2L</i> results in a neurodevelopmental disorder and disrupts TRAPP complex function.	J Med Genet	2021
34186028	Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders.	Am J Hum Genet	2021
30674731	One-year pilot study on the effects of nitisinone on melanin in patients with OCA-1B.	JCI Insight	2019
31230195	COL4A1 mutations as a potential novel cause of autosomal dominant CAKUT in humans.	Hum Genet	2019
31010896	Homozygous noncanonical splice variant in <i>LSM1</i> in two siblings with multiple congenital anomalies and global developmental delay.	Cold Spring Harb Mol Case Stud	2019
28742462	A novel iris transillumination grading scale allowing flexible assessment with quantitative image analysis and visual matching.	Ophthalmic Genet	2018
28603714	Defining Disease, Diagnosis, and Translational Medicine within a Homeostatic Perturbation Paradigm: The National Institutes of Health Undiagnosed Diseases Program Experience.	Front Med (Lausanne)	2017
27785453	Distributed Cognition and Process Management Enabling Individualized Translational Research: The NIH Undiagnosed Diseases Program Experience.	Front Med (Lausanne)	2016
27417368	The Undiagnosed Diseases Program Integrated Collaboration System (UDPICS): One Program's Experience Developing Custom Software to Support Research for Complex-Disease Families.	Children (Basel)	2015
26584669	An anthrax toxin variant with an improved activity in tumor targeting.	Sci Rep	2015

1 - 11 of 11

Eleanor G Seaby

University of Southampton

Career Start Year 2014

Number of shared co-authors 9

Nikolas Pontikos

Moorfields Eye Hospital, UK UCL Institute of Ophthalmology, University College London

Career Start Year 2014

Number of shared co-authors 7

Margaret Harr

Center for Applied Genomics, Children's Hospital of Philadelphia

Career Start Year 2013

Number of shared co-authors 3

Matthew B Neu

HudsonAlpha Institute for Biotechnology

Career Start Year 2010

Number of shared co-authors 0

Tracy L McGregor

Alnylam Pharmaceuticals

Career Start Year 2009

Number of shared co-authors 0

Theodore G Drivas

Department of Genetics University of Pennsylvania Philadelphia PA.

Career Start Year 2008

Number of shared co-authors 5

Angela Del Pozo

Instituto de Genetica Medica y Molecular (INGEMM), Hospital Universitario La Paz

Career Start Year 2008

Number of shared co-authors 2

Catherine A Brownstein

Harvard Medical School.

Career Start Year 2008

Number of shared co-authors 16

Yiran Guo

Center for Data-Driven Discovery in Biomedicine, Children's Hospital of Philadelphia

Career Start Year 2007

Number of shared co-authors 6

Gareth Baynam

King Edward Memorial Hospital

Career Start Year 2006

Number of shared co-authors 14

Katherine R Smith

Walter and Eliza Hall Institute of Medical Research

Career Start Year 2005

Number of shared co-authors 4

Julie Richer

University of Ottawa, Canada Children's Hospital of Eastern Ontario

Career Start Year 2005

Number of shared co-authors 0

Fiona Cunningham

European Bioinformatics Institute

Career Start Year 2003

Number of shared co-authors 4

Christin D Collins

Emory University Department of Human Genetics Atlanta Georgia 30322.

Career Start Year 2003

Number of shared co-authors 2

Heidi Cope

GenOmics and Translational Research Center

Career Start Year 2002

Number of shared co-authors 6

Michael A Simpson

King's College London

Career Start Year 2002

Number of shared co-authors 1

Eric W Klee

Mayo Clinic College of Medicine and Science

Career Start Year 2001

Number of shared co-authors 6

Fowzan S Alkuraya

King Faisal Specialist Hospital and Research Center

Career Start Year 2001

Number of shared co-authors 14

Loren D M Pena

Duke University Medical Center

Career Start Year 2001

Number of shared co-authors 1

Jonathan A Bernstein

Stanford University

Career Start Year 2000

Number of shared co-authors 8

Tony Roscioli

Prince of Wales Hospital

Career Start Year 2000

Number of shared co-authors 10

Terry A Braun

University of Iowa

Career Start Year 1999

Number of shared co-authors 0

Jennifer A Sullivan

Duke University School of Medicine

Career Start Year 1999

Number of shared co-authors 2

Kym M Boycott

Children's Hospital of Eastern Ontario

Career Start Year 1996

Number of shared co-authors 19

Graeme C M Black

Manchester University Hospitals NHS Foundation Trust, St Mary's Hospital

Career Start Year 1991

Number of shared co-authors 8

Ada Hamosh

Johns Hopkins University School of Medicine

Career Start Year 1991

Number of shared co-authors 17

Stephen F Kingsmore

Rady Children's Institute for Genomic Medicine

Career Start Year 1988

Number of shared co-authors 4

Leslie G Biesecker

National Human Genome Research Institute, National Institutes of Health

Career Start Year 1987

Number of shared co-authors 9

Siddharth Banka

University of Manchester

Career Start Year 1986

Number of shared co-authors 12

Gholson J Lyon

NYS Institute for Basic Research in Developmental Disabilities .

Career Start Year 1972

Number of shared co-authors 11

row(s) 1 - 30 of 30

David R Adams

National Human Genome Research Institute, National Institutes of Health

Co-authored papers 5

William A Gahl

National Human Genome Research Institute, National Institutes of Health

Co-authored papers 5

David Draper

National Institutes of Health

Co-authored papers 3

Elizabeth Lee

National Institutes of Health

Co-authored papers 3

Jessica Guzm??n-Morales

Stanford University

Co-authored papers 3

Cornelius F Boerkoel

University of British Columbia

Co-authored papers 3

Murat Sincan

Boston University School of Public Health

Co-authored papers 3

Melissa A Haendel

American Medical Informatics Association, Oregon Health and Science University, Oregon State University, University of Colorado Anschutz Medical Campus, University of North Carolina at Chapel Hill, University of Wisconsin-Madison

Co-authored papers 2

Brian P Brooks

Co-authored papers 2

Dimitre R Simeonov

University of California San Francisco

Co-authored papers 2

Melissa A Haendel

Co-authored papers 2

Wendy K Chung

Boston Children's Hospital, Harvard Medical School

Co-authored papers 2

Valerie Maduro