Amy Lacroix

发表

De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies.

Michael R. Johnson, G. Carvill, I. Scheffer, 2016, American journal of human genetics.

Description of a new oncogenic mechanism for atypical teratoid rhabdoid tumors in patients with ring chromosome 22

H. Mefford, W. Dobyns, M. Adam, 2017, American journal of medical genetics. Part A.

Severe infantile onset developmental and epileptic encephalopathy caused by mutations in autophagy gene WDR45

G. Carvill, I. Scheffer, H. Mefford, 2018, Epilepsia.

Parental Mosaicism in "De Novo" Epileptic Encephalopathies.

G. Carvill, I. Scheffer, H. Mefford, 2018, The New England journal of medicine.

Correction: TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants

H. Mefford, Manuela Pendziwiat, H. Muhle, 2018, Genetics in Medicine.

GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects

Anup D. Patel, Ethan M. Goldberg, I. Scheffer, 2017, Journal of Medical Genetics.

GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome.

Martin Kircher, George Anadiotis, Michael J Bamshad, 2019, American journal of human genetics.

Genetic convergence of developmental and epileptic encephalopathies and intellectual disability

L. Vissers, G. Carvill, I. Scheffer, 2021, Developmental medicine and child neurology.

Five patients with a chromosome 1q21.1 triplication show macrocephaly, increased weight and facial similarities.

J. Rosenfeld, H. Mefford, G. Mortier, 2015, European journal of medical genetics.

STRling: a k-mer counting approach that detects short tandem repeat expansions at known and novel loci

Brent S. Pedersen, H. Mefford, A. Quinlan, 2021, bioRxiv.

The epilepsy phenotypic spectrum associated with a recurrent CUX2 variant

R. Pfundt, G. Carvill, I. Scheffer, 2018, Annals of neurology.

TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants

H. Mefford, Manuela Pendziwiat, H. Muhle, 2018, Genetics in Medicine.

GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome.

Daniel G. Miller, H. Mefford, D. Nickerson, 2019, American journal of human genetics.

De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies.

Michael R. Johnson, G. Carvill, I. Scheffer, 2016, American journal of human genetics.