E. O’Heir

发表

De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability

Michael T. Zimmermann, Nikita R. Dsouza, S. Antonarakis, 2020, Journal of Medical Genetics.

Ehlers‐Danlos/myopathy overlap syndrome caused by a large de novo deletion in COL12A1

S. Coppens, P. van Bogaert, C. Vilain, 2022, American journal of medical genetics. Part A.

seqr: A web‐based analysis and collaboration tool for rare disease genomics

D. MacArthur, H. Rehm, A. O’Donnell-Luria, 2022, Human mutation.

Homozygous WASHC4 variant in two sisters causes a syndromic phenotype defined by dysmorphisms, intellectual disability, profound developmental disorder, and skeletal muscle involvement

Hanns Lochmüller, R. Horvath, A. Sickmann, 2021, The Journal of pathology.

High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases

P. Chinnery, H. Lochmüller, R. Horvath, 2021, Brain : a journal of neurology.

Phenotype and genetic analysis of data collected within the first year of NeuroDev: A Pilot Study

Alicia R. Martin, Lethukuthula L Nkambule, D. MacArthur, 2022, medRxiv.

Wide range of phenotypic severity in individuals with late truncations unique to the predominant CDKL5 transcript in the brain

Mahshid S. Azamian, Alyssa A. Tran, J. Rosenfeld, 2022, American journal of medical genetics. Part A.

Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling.

B. Burton, Katherine H Kim, W. Dobyns, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Centers for Mendelian Genomics: A decade of facilitating gene discovery

Jeffrey M. Weiss, Ryan L. Collins, Jack M. Fu, 2021, medRxiv.

De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures

J. Rosenfeld, E. Zackai, L. Burrage, 2021, Molecular Autism.

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

William E. Byrd, Mercedes E. Alejandro, Mahshid S. Azamian, 2021, Genetics in Medicine.

seqr: A web‐based analysis and collaboration tool for rare disease genomics

H. Rehm, A. O’Donnell-Luria, B. Weisburd, 2021, medRxiv.

Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death

Ryan L. Collins, Jack M. Fu, Beryl B. Cummings, 2023, Nature Medicine.

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

William E. Byrd, Mercedes E. Alejandro, Mahshid S. Azamian, 2021, Genetics in Medicine.

Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy

H. Mefford, H. Rehm, M. Koenig, 2021, Brain : a journal of neurology.

A de novo CSDE1 variant causing neurodevelopmental delay, intellectual disability, neurologic and psychiatric symptoms in a child of consanguineous parents

Hanns Lochmüller, R. Horvath, H. Kölbel, 2021, American journal of medical genetics. Part A.

Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project

Julius O. B. Jacobsen, Fullerton, Azza, 2023, medRxiv.

Successful treatment of intractable epilepsy with ketogenic diet therapy in twins with ALG3-CDG

R. Horvath, U. Yiş, A. Töpf, 2020, Brain and Development.

Phenotype and genetic analysis of data collected within the first year of NeuroDev

Lethukuthula L Nkambule, A. O’Donnell-Luria, H. Brand, 2023, Neuron.

Phenotype and genetic analysis of data collected within the first year of NeuroDev: A Pilot Study

A. O’Donnell-Luria, H. Brand, M. Talkowski, 2022 .

Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease

Jack M. Fu, K. Garimella, A. O’Donnell-Luria, 2023, medRxiv.