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Genetics in Medicine (13)
European Journal of Human Genetics (2)
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Showing 1–19 of 19 results

Advanced filters: Author: Mahshid Azamian Clear advanced filters

Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation

A vesicle trafficking Rab11 effector switch is important for ciliogenesis. Here, the authors report a ciliopathy-related disorder caused by variants in WDR44, a Rab11 effector. WDR44 variants show higher affinity for Rab11 and can impair ciliogenesis.

Andrea Accogli
Saurabh Shakya
Christopher J. Westlake
ResearchOpen Access08 Jan 2024
Nature Communications

Volume: 15, P: 1-20
Correction: A randomized trial to study the comparative efficacy of phenylbutyrate and benzoate on nitrogen excretion and ureagenesis in healthy volunteers

Sandesh C. S. Nagamani
Umang Agarwal
Juan C. Marini
Amendments and Corrections06 May 2021
Genetics in Medicine

Volume: 23, P: 2227
Quality of life, illness perceptions, and parental lived experiences in TANGO2-related metabolic encephalopathy and arrhythmias

Chaya N. Murali
Seema R. Lalani
Hadley Stevens Smith
Research13 Jun 2022
European Journal of Human Genetics

Volume: 30, P: 1044-1050
Aberrant DNA methylation as a diagnostic biomarker of diabetic embryopathy

Katharina V. Schulze
Amit Bhatt
Neil A. Hanchard
Research17 Apr 2019
Genetics in Medicine

Volume: 21, P: 2453-2461
A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative

Vandana Shashi
Kelly Schoch
Allison Zheng
Research15 Jun 2018
Genetics in Medicine

Volume: 21, P: 161-172
Genetic architecture of laterality defects revealed by whole exome sequencing

Alexander H. Li
Neil A. Hanchard
John W. Belmont
Research08 Jan 2019
European Journal of Human Genetics

Volume: 27, P: 563-573
A randomized trial to study the comparative efficacy of phenylbutyrate and benzoate on nitrogen excretion and ureagenesis in healthy volunteers

Sandesh C S Nagamani
Umang Agarwal
Juan C Marini
Research12 Oct 2017
Genetics in Medicine

Volume: 20, P: 708-716
Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts

A diagnostic tool based on blood RNA-seq is shown to identify causal genes and variants linked to clinical phenotypes in individuals with rare diseases for which whole-exome genetic sequencing was uninformative.

Laure Frésard
Craig Smail
Stephen B. Montgomery
Research03 Jun 2019
Nature Medicine

Volume: 25, P: 911-919
Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment

Marie Morimoto
Vikas Bhambhani
May Christine V. Malicdan
ResearchOpen Access10 Feb 2023
npj Genomic Medicine

Volume: 8, P: 1-16
Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

Lance H. Rodan
Rebecca C. Spillmann
Vandana Shashi
Research23 Jun 2021
Genetics in Medicine

Volume: 23, P: 1922-1932
Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain

Felix Marbach
Georgi Stoyanov
Christian P. Schaaf
ResearchOpen Access08 Apr 2021
Genetics in Medicine

Volume: 23, P: 1465-1473
Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11

Thomas A. Ravenscroft
Jennifer B. Phillips
Hugo J. Bellen
Research10 Jun 2021
Genetics in Medicine

Volume: 23, P: 1889-1900
Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases

Shilpa Nadimpalli Kobren
Dustin Baldridge
Isaac S. Kohane
ResearchOpen Access12 Feb 2021
Genetics in Medicine

Volume: 23, P: 1075-1085
An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

Sacha Ferdinandusse
Kirsty McWalter
Frédéric M. Vaz
ResearchOpen Access26 Nov 2020
Genetics in Medicine

Volume: 23, P: 740-750
Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science

Kelly Schoch
Cecilia Esteves
Vandana Shashi
Research23 Oct 2020
Genetics in Medicine

Volume: 23, P: 259-271
A resource of lipidomics and metabolomics data from individuals with undiagnosed diseases

Jennifer E. Kyle
Kelly G. Stratton
Thomas O. Metz
ResearchOpen Access21 Apr 2021
Scientific Data

Volume: 8, P: 1-12
One is the loneliest number: genotypic matchmaking using the electronic health record

Elly Brokamp
Mary E. Koziura
Jimann Shin
Comments & Opinion06 Jul 2021
Genetics in Medicine

Volume: 23, P: 1830-1832
Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

Lance H. Rodan
Rebecca C. Spillmann
Vandana Shashi
Amendments and Corrections14 Sept 2021
Genetics in Medicine

Volume: 23, P: 2016
Correction to: An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

Sacha Ferdinandusse
Kirsty McWalter
Frédéric M. Vaz
Amendments and CorrectionsOpen Access19 Oct 2021
Genetics in Medicine

Volume: 23, P: 2467

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Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation

Correction: A randomized trial to study the comparative efficacy of phenylbutyrate and benzoate on nitrogen excretion and ureagenesis in healthy volunteers

Quality of life, illness perceptions, and parental lived experiences in TANGO2-related metabolic encephalopathy and arrhythmias

Aberrant DNA methylation as a diagnostic biomarker of diabetic embryopathy

A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative

Genetic architecture of laterality defects revealed by whole exome sequencing

A randomized trial to study the comparative efficacy of phenylbutyrate and benzoate on nitrogen excretion and ureagenesis in healthy volunteers

Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts

Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment

Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain

Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11

Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases

An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science

A resource of lipidomics and metabolomics data from individuals with undiagnosed diseases

One is the loneliest number: genotypic matchmaking using the electronic health record

Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

Correction to: An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

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