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Homozygous mutations in VAMP1 cause a presynaptic congenital myasthenic syndrome

Annals of neurology, 2017-04, Vol.81 (4), p.597-603

2017

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Genotype-phenotype correlation in 22q11.2 deletion syndrome

BMC medical genetics, 2012-12, Vol.13 (1), p.122-122, Article 122

2012

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Substrate interaction defects in histidyl‐tRNA synthetase linked to dominant axonal peripheral neuropathy

Human mutation, 2018-03, Vol.39 (3), p.415-432

2018

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Phenotypic psychiatric characterization of children with Williams syndrome and response of those with ADHD to methylphenidate treatment

American journal of medical genetics. Part B, Neuropsychiatric genetics, 2012-01, Vol.159B (1), p.13-20

2012

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Kaufman oculocerebrofacial syndrome: Novel UBE3B mutations and clinical features in four unrelated patients

American journal of medical genetics. Part A, 2018-01, Vol.176 (1), p.187-193

2018

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Acute lymphoblastic leukemia in Weaver syndrome

American journal of medical genetics. Part A, 2010-02, Vol.152A (2), p.383-386

Basel-Vanagaite, Lina

2010

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Dominant Mutations in GRHL3 Cause Van der Woude Syndrome and Disrupt Oral Periderm Development

American journal of human genetics, 2014-01, Vol.94 (1), p.23-32

2014

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Mutated nup62 causes autosomal recessive infantile bilateral striatal necrosis

Annals of neurology, 2006-08, Vol.60 (2), p.214-222

2006

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Homozygous mutations in VAMP 1 cause a presynaptic congenital myasthenic syndrome

Annals of neurology, 2017-04, Vol.81 (4), p.597-603

2017

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Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia

Brain (London, England : 1878), 2011-01, Vol.134 (Pt 1), p.143-156

2011

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Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature

American journal of medical genetics. Part A, 2018-11, Vol.176 (11), p.2259-2275

2018

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Clinical and Brain Imaging Heterogeneity of Severe Microcephaly

Pediatric neurology, 2010-07, Vol.43 (1), p.7-16

2010

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Microcephaly Thin Corpus Callosum Intellectual Disability Syndrome Caused by Mutated TAF2

Pediatric neurology, 2013-12, Vol.49 (6), p.411-416.e1

2013

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G Protein-Coupled Receptor-Dependent Development of Human Frontal Cortex

Science (American Association for the Advancement of Science), 2004-03, Vol.303 (5666), p.2033-2036

2004

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De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy

Human mutation, 2003-06, Vol.21 (6), p.615-621

2003

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Large Intragenic Deletion in DSTYK Underlies Autosomal-Recessive Complicated Spastic Paraparesis, SPG23

American journal of human genetics, 2017-02, Vol.100 (2), p.364-370

2017

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Twenty-two novel mutations in the lysosomal α-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II

Human mutation, 2004-01, Vol.23 (1), p.47-56

2004

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Keppen-Lubinsky syndrome: Expanding the phenotype

American journal of medical genetics. Part A, 2009-08, Vol.149A (8), p.1827-1829

2009

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Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East

Human mutation, 2008-11, Vol.29 (11), p.E231-E241

2008

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Identification of a novel mutation in the PNLIP gene in two brothers with congenital pancreatic lipase deficiency

Journal of lipid research, 2014-02, Vol.55 (2), p.307-312

2014

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A Comparative Study of Hearing Loss in Two Microdeletion Syndromes: Velocardiofacial (22q11.2 Deletion) and Williams (7q11.23 Deletion) Syndromes

The Journal of pediatrics, 2011-02, Vol.158 (2), p.301-306

2011

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Homozygous mutations in VAMP1 cause a presynaptic congenital myasthenic syndrome

Genotype-phenotype correlation in 22q11.2 deletion syndrome

Substrate interaction defects in histidyl‐tRNA synthetase linked to dominant axonal peripheral neuropathy

Phenotypic psychiatric characterization of children with Williams syndrome and response of those with ADHD to methylphenidate treatment

Mutation Spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and Genotype-Phenotype Correlations in Warburg Micro Syndrome and Martsolf Syndrome

Kaufman oculocerebrofacial syndrome: Novel UBE3B mutations and clinical features in four unrelated patients

Acute lymphoblastic leukemia in Weaver syndrome

Dominant Mutations in GRHL3 Cause Van der Woude Syndrome and Disrupt Oral Periderm Development

Mutated nup62 causes autosomal recessive infantile bilateral striatal necrosis

Homozygous mutations in VAMP 1 cause a presynaptic congenital myasthenic syndrome

Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia

Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature

Clinical and Brain Imaging Heterogeneity of Severe Microcephaly

Microcephaly Thin Corpus Callosum Intellectual Disability Syndrome Caused by Mutated TAF2

Deficiency for the Ubiquitin Ligase UBE3B in a Blepharophimosis-Ptosis-Intellectual-Disability Syndrome

G Protein-Coupled Receptor-Dependent Development of Human Frontal Cortex

De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy

Large Intragenic Deletion in DSTYK Underlies Autosomal-Recessive Complicated Spastic Paraparesis, SPG23

Expanding the Mutational Spectrum of CRLF1 in Crisponi/CISS1 Syndrome

Twenty-two novel mutations in the lysosomal α-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II

Mutations in GMPPA Cause a Glycosylation Disorder Characterized by Intellectual Disability and Autonomic Dysfunction

Keppen-Lubinsky syndrome: Expanding the phenotype

Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East

Identification of a novel mutation in the PNLIP gene in two brothers with congenital pancreatic lipase deficiency

A Comparative Study of Hearing Loss in Two Microdeletion Syndromes: Velocardiofacial (22q11.2 Deletion) and Williams (7q11.23 Deletion) Syndromes

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