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Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID

Molecular psychiatry, 2016-01, Vol.21 (1), p.126-132

2016

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Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant

Journal of medical genetics, 2009-04, Vol.46 (4), p.223-232

2009

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De novo SCN1A mutations in migrating partial seizures of infancy

Neurology, 2011-07, Vol.77 (4), p.380

2011

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Genetic investigations of the epileptic encephalopathies: Recent advances

Progress in brain research, 2016, Vol.226, p.35-60

2016

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The complex structure and dynamic evolution of human subtelomeres

Nature reviews. Genetics, 2002-02, Vol.3 (2), p.91-102

2002

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Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome

Journal of medical genetics, 2009-08, Vol.46 (8), p.511-523

2009

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Non-recurrent SEPT9 duplications cause hereditary neuralgic amyotrophy

Journal of medical genetics, 2010-09, Vol.47 (9), p.601-607

2010

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Severe cognitive impairment and early-onset epilepsy in six patients with the de novo p.Glu590Lys variant of CUX2

European journal of paediatric neurology, 2017-06, Vol.21, p.e194-e194

2017

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A roadmap for precision medicine in the epilepsies

Lancet neurology, 2015-12, Vol.14 (12), p.1219-1228

Anon

2015

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BRCA2 in American families with four or more cases of breast or ovarian cancer: Recurrent and novel mutations, variable expression, penetrance, and the possibility of families whose cancer is not attributable to BRCA1 or BRCA2

American journal of human genetics, 1997-05, Vol.60 (5), p.1031-1040

1997

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Recurrent Reciprocal Genomic Rearrangements of 17q12 Are Associated with Renal Disease, Diabetes, and Epilepsy

American journal of human genetics, 2007-11, Vol.81 (5), p.1057-1069

2007

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Comparative sequencing of a multicopy subtelomeric region containing olfactory receptor genes reveals multiple interactions between non-homologous chromosomes

Human molecular genetics, 2001-10, Vol.10 (21), p.2363-2372

2001

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Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity

Genetics in medicine, 2010-10, Vol.12 (10), p.641-647

2010

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De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

American journal of human genetics, 2018-11, Vol.103 (5), p.666-678

2018

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Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance

Human molecular genetics, 2009-10, Vol.18 (19), p.3626-3631

2009

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Genetic contribution to common epilepsies

Current opinion in neurology, 2011-04, Vol.24 (2), p.140-145

2011

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The Genetic Landscape of Epilepsy of Infancy with Migrating Focal Seizures

Annals of neurology, 2019-12, Vol.86 (6), p.821-831

2019

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Transcriptional activity of multiple copies of a subtelomerically located olfactory receptor gene that is polymorphic in number and location

Human molecular genetics, 2001-10, Vol.10 (21), p.2373-2383

2001

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Intestinal-Cell Kinase and Juvenile Myoclonic Epilepsy

The New England journal of medicine, 2019-04, Vol.380 (16), p.e24-1028

2019

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Use of fluorescent sequence-specific polyamides to discriminate human chromosomes by microscopy and flow cytometry

Nucleic acids research, 2002-07, Vol.30 (13), p.2790

2002

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Evidence for a BRCA1 Founder Mutation in Families of West African Ancestry

American journal of human genetics, 1999-08, Vol.65 (2), p.575-578

1999

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Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies

Brain (London, England : 1878), 2010-01, Vol.133 (1), p.23-32

2010

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A96 MOLECULAR MYCOBACTERIOLOGY: HOST AND BACILLUS: Polymorphisms In Siglec5 And Siglec14 And Susceptibility To Tuberculosis

American journal of respiratory and critical care medicine, 2015-01, Vol.191, p.1

2015

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The Importance of Genome Architecture in Mental Retardation

Genetics of Mental Retardation, 2010, Vol.18, p.43-56

2010

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Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID

Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant

De novo SCN1A mutations in migrating partial seizures of infancy

Genetic investigations of the epileptic encephalopathies: Recent advances

The complex structure and dynamic evolution of human subtelomeres

Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome

Non-recurrent SEPT9 duplications cause hereditary neuralgic amyotrophy

Severe cognitive impairment and early-onset epilepsy in six patients with the de novo p.Glu590Lys variant of CUX2

A roadmap for precision medicine in the epilepsies

BRCA2 in American families with four or more cases of breast or ovarian cancer: Recurrent and novel mutations, variable expression, penetrance, and the possibility of families whose cancer is not attributable to BRCA1 or BRCA2

Recurrent Reciprocal Genomic Rearrangements of 17q12 Are Associated with Renal Disease, Diabetes, and Epilepsy

Comparative sequencing of a multicopy subtelomeric region containing olfactory receptor genes reveals multiple interactions between non-homologous chromosomes

Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis

Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance

Genetic contribution to common epilepsies

The Genetic Landscape of Epilepsy of Infancy with Migrating Focal Seizures

Transcriptional activity of multiple copies of a subtelomerically located olfactory receptor gene that is polymorphic in number and location

Intestinal-Cell Kinase and Juvenile Myoclonic Epilepsy

Use of fluorescent sequence-specific polyamides to discriminate human chromosomes by microscopy and flow cytometry

Evidence for a BRCA1 Founder Mutation in Families of West African Ancestry

Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies

A96 MOLECULAR MYCOBACTERIOLOGY: HOST AND BACILLUS: Polymorphisms In Siglec5 And Siglec14 And Susceptibility To Tuberculosis

The Importance of Genome Architecture in Mental Retardation

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