UDN

Solving Medical Mysteries
Through Team Science

Publications

A second hotspot for pathogenic exon-skipping variants in CDC45

March 11, 2024

European Journal of Human Genetics


De novo variants in DENND5B cause a neurodevelopmental disorder

March 7, 2024

American Journal of Human Genetics


Loss of the endoplasmic reticulum protein Tmem208 affects cell polarity, development, and viability

February 27, 2024

Proceedings of the National Academy of Sciences (PNAS)


EFEMP1 haploinsufficiency causes a Marfan-like hereditary connective tissue disorder

February 13, 2024

American Journal of Medical Genetics Part A


Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy

February 4, 2024

Annals of Clinical and Translational Neurology


Genetic counseling for congenital disorders of glycosylation (CDG)

January 19, 2024

Journal of Genetic Counseling


A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3

January 4, 2024

American Journal of Human Genetics


Biallelic CRELD1 variants cause a multisystem syndrome including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections

November 6, 2023

Genetics in Medicine : Official Journal of the American College of Medical Genetics


Probable digenic inheritance of Diamond–Blackfan anemia

October 27, 2023

American Journal of Medical Genetics Part A


The contribution of mosaicism to genetic diseases and de novo pathogenic variants

May 29, 2023

American Journal of Medical Genetics Part A


Dominant-negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome

May 16, 2023

Annals of Clinical and Translational Neurology


Exome/Genome Sequencing in Undiagnosed Syndromes

January 27, 2023

Annual Review of Medicine


TMEM161B regulates cerebral cortical gyration, Sonic Hedgehog signaling, and ciliary structure in the developing central nervous system

January 24, 2023

Proceedings of the National Academy of Sciences of the United States of America


A de novo hexokinase 1 (HK1) variant presenting as Boucher-Neuhäuser syndrome

December 21, 2022

American Journal of Medical Genetics


Adults with lysosomal storage diseases in the undiagnosed diseases network

July 18, 2022

Molecular Genetics & Genomic Medicine


A novel, de novo intronic variant in POGZ causes White-Sutton syndrome

April 9, 2022

American Journal of Medical Genetics Part A


Systematic analysis of physical examination characteristics of 94 individuals with Joubert syndrome: Keys to suspecting the diagnosis

March 23, 2022

Seminars in Medical Genetics, Part C of the American Journal of Medical Genetics (AJMG)


Lord of the fruit flies: an interview with Hugo Bellen

March 1, 2022

Disease Models & Mechanisms


A dominant negative variant of RAB5B disrupts maturation of surfactant protein B and surfactant protein C

February 8, 2022

Proceedings of the National Academy of Sciences of the United States of America


Patients as Partners in Rare Disease Diagnosis and Research

December 29, 2021

The Yale Journal of Biology and Medicine


Variable clinical severity in TANGO2 deficiency: Case series and literature review

October 19, 2021

American Journal of Medical Genetics, Part A


A novel de novo intronic variant in ITPR1 causes Gillespie syndrome

May 5, 2021

American Journal of Medical Genetics, Part A


Finding commonalities in rare diseases through the Undiagnosed Diseases Network

May 3, 2021

Journal of the American Medical Informatics Association


Heterozygous variants in SPTBN1 cause intellectual disability and autism

April 13, 2021

American Journal of Medical Genetics, Part A


Expansion of NEUROD2 phenotypes to include developmental delay without seizures

January 13, 2021

American Journal of Medical Genetics, Part A


Discovery of a novel CHD7 CHARGE syndrome variant by integrated omics analyses

November 13, 2020

American Journal of Medical Genetics, Part A


Novel NUDT2 variant causes intellectual disability and polyneuropathy

October 15, 2020

Annals of Clinical and Translational Neurology


The Undiagnosed Diseases Program: Approach to Diagnosis

April 13, 2020

Translational Science of Rare Diseases


Dominant-negative Mutations in Human IL6ST Underlie hyper-IgE Syndrome

March 24, 2020

Journal of Experimental Medicine


Limitations of Exome Sequencing in Detecting Rare and Undiagnosed Diseases

March 19, 2020

American Journal of Medical Genetics, Part A


Defining the clinical phenotype of Saul-Wilson syndrome

January 17, 2020

Genetics in Medicine


Phenotypic expansion in DDX3X - a common cause of intellectual disability in females

September 15, 2018

Annals of Clinical and Translational Neurology


IRF2BPL Is Associated with Neurological Phenotypes

July 26, 2018

American Journal of Human Genetics


Phenotypic heterogeneity of ZMPSTE24 deficiency

January 17, 2018

American Journal of Medical Genetics, Part A


A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3

January 5, 2017

American Journal of Human Genetics


The Undiagnosed Diseases Network of the National Institutes of Health: A National Extension

November 3, 2015

The Journal of the American Medical Association


Top