Suchergebnisse - "Hassey, Kelly"

PubPharm (32)

1

Recurrent ATP1A1 variant Gly903Arg causes developmental delay, intellectual disability, and autism

enthalten in: Annals of clinical and translational neurology | 2024

von Dohrn, M. | Bademci, G. | Rebelo, A. | +110

2

Undiagnosed Disease Network collaborative approach in diagnosing rare disease in a patient with a mosaic CACNA1D variant

enthalten in: American journal of medical genetics. Part A | 2024

von Ezell, K. | Tinker, R. | Furuta, Y. | +110

3

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

enthalten in: Annals of clinical and translational neurology | 2024

von Donkervoort, S. | Mohassel, P. | O'Leary, M. | +121

4

De novo variants in DENND5B cause a neurodevelopmental disorder

enthalten in: American journal of human genetics | 2024

von Scala, M. | Tomati, V. | Ferla, M. | +134

5

Exome and genome sequencing in a heterogeneous population of patients with rare disease : Identifying predictors of a diagnosis

enthalten in: Genetics in medicine : official journal of the American College of Medical Genetics | 2024

von Pucel, J. | Briere, L. | Reuter, C. | +103

6

LUSTR : a new customizable tool for calling genome-wide germline and somatic short tandem repeat variants

enthalten in: BMC genomics | 2024

von Lu, J. | Toro, C. | Adams, D. | +107

7

De novo missense variants in ZBTB47 are associated with developmental delays, hypotonia, seizures, gait abnormalities, and variable movement abnormalities

enthalten in: American journal of medical genetics. Part A | 2024

von Ward, S. | Wadley, A. | Tsai, C. | +117

ErratumIn: Am J Med Genet A. 2024 Feb 7;:e63558. - PMID 38327012

8

Kagami Ogata syndrome : a small deletion refines critical region for imprinting

enthalten in: NPJ genomic medicine | 2024

von Kilich, G. | Hassey, K. | Behrens, E. | +13

9

A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3

enthalten in: American journal of human genetics | 2024

von Paul, M. | Michener, S. | Pan, H. | +157

ErratumIn: Am J Hum Genet. 2024 Mar 19;:. - PMID 38508193

10

Dominant negative variants in IKZF2 cause ICHAD syndrome, a new disorder characterised by immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay

enthalten in: Journal of medical genetics | 2023

von Mohajeri, A. | Vaseghi-Shanjani, M. | Rosenfeld, J. | +126