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SCRIB and PUF60 Are Primary Drivers of the Multisystemic Phenotypes of the 8q24.3 Copy-Number Variant

American journal of human genetics, 2013-11, Vol.93 (5), p.798-811

2013

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Duplication of AKT3 as a cause of macrocephaly in duplication 1q43q44

American journal of medical genetics. Part A, 2013-08, Vol.161A (8), p.2016-2019

2013

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Absence of a Paternally Inherited FOXP2 Gene in Developmental Verbal Dyspraxia

American journal of human genetics, 2006-11, Vol.79 (5), p.965-972

2006

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Ovarian Failure Related to Eukaryotic Initiation Factor 2B Mutations

American journal of human genetics, 2003-06, Vol.72 (6), p.1544-1550

2003

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Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A

Genetics in medicine, 2012-10, Vol.14 (10), p.868-876

2012

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Duplication of AKT 3 as a cause of macrocephaly in duplication 1q43q44

American journal of medical genetics. Part A, 2013-08, Vol.161 (8), p.2016-2019

2013

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Speech and language impairment and oromotor dyspraxia due to deletion of 7q31 that involves FOXP2

American journal of medical genetics. Part A, 2006-03, Vol.140A (5), p.509-514

2006

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Prader-Willi syndrome and Tay-Sachs disease in association with mixed maternal uniparental isodisomy and heterodisomy 15 in a girl who also had isochromosome Xq

American journal of medical genetics. Part A, 2015-01, Vol.167A (1), p.180-184

2015

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MG-123 Exonic and intronic NRXN1 deletions: Novel genotype-phenotype correlations

Journal of medical genetics, 2015-11, Vol.52 (Suppl 2), p.A9-A9

2015

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SCRIB and PUF60 Are Primary Drivers of the Multisystemic Phenotypes of the 8q24.3 Copy-Number Variant

American journal of human genetics, 2013-11, Vol.93 (5), p.994-994

2013

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Microdeletion in distal 17p13.1: A recognizable phenotype with microcephaly, distinctive facial features, and intellectual disability

American journal of medical genetics. Part A, 2012-08, Vol.158A (8), p.1832-1836

2012

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Incidence of Smith-Lemli-Opitz syndrome in Canada: Results of three-year population surveillance

The Journal of pediatrics, 2004-10, Vol.145 (4), p.530-535

2004

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Paternal transmission of fragile X syndrome

American journal of medical genetics, 2004-08, Vol.129A (2), p.184-189

2004

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Paternal transmission of the congenital form of myotonic dystrophy type 1: A new case and review of the literature

American journal of medical genetics, 2002-01, Vol.107 (3), p.222-226

2002

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Pregnancy in a healthy woman with untreated citrullinemia

American journal of medical genetics, 2004-08, Vol.129A (1), p.77-82

2004

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Response to letter: "No evidence of paternal transmission of fragile X syndrome" by Doris and Peter Steinbach

American journal of medical genetics. Part A, 2005-07, Vol.136A (1), p.109-110

2005

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No evidence of paternal transmission of fragile X syndrome

American journal of medical genetics. Part A, 2005-07, Vol.136A (1), p.107-108

2005

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Oral‐facial‐digital syndrome VII is oral‐facial‐digital syndrome I: A clarification

American journal of medical genetics, 2003-12, Vol.123A (2), p.179-182

2003

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Boy with 47,XXY,del(15)(q11.2q13) karyotype and Prader–Willi syndrome: A new case and review of the literature

American journal of medical genetics, 2004-02, Vol.125A (1), p.73-76

2004

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SCRIB and PUF60 Are Primary Drivers of the Multisystemic Phenotypes of the 8q24.3 Copy-Number Variant

Duplication of AKT3 as a cause of macrocephaly in duplication 1q43q44

Absence of a Paternally Inherited FOXP2 Gene in Developmental Verbal Dyspraxia

Ovarian Failure Related to Eukaryotic Initiation Factor 2B Mutations

Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A

Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression

OP099 - The relevance of deep genomic analyses in families with variably expressive CNVs in the era of personalized medicine

The relevance of deep genomic analyses in families with variably expressive CNVs in the era of personalized medicine

Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity

Duplication of AKT 3 as a cause of macrocephaly in duplication 1q43q44

Speech and language impairment and oromotor dyspraxia due to deletion of 7q31 that involves FOXP2

Prader-Willi syndrome and Tay-Sachs disease in association with mixed maternal uniparental isodisomy and heterodisomy 15 in a girl who also had isochromosome Xq

MG-123 Exonic and intronic NRXN1 deletions: Novel genotype-phenotype correlations

SCRIB and PUF60 Are Primary Drivers of the Multisystemic Phenotypes of the 8q24.3 Copy-Number Variant

Microdeletion in distal 17p13.1: A recognizable phenotype with microcephaly, distinctive facial features, and intellectual disability

Incidence of Smith-Lemli-Opitz syndrome in Canada: Results of three-year population surveillance

Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype-phenotype correlation in 38 classical citrullinemia patients

Paternal transmission of fragile X syndrome

Paternal transmission of the congenital form of myotonic dystrophy type 1: A new case and review of the literature

Pregnancy in a healthy woman with untreated citrullinemia

Response to letter: "No evidence of paternal transmission of fragile X syndrome" by Doris and Peter Steinbach

No evidence of paternal transmission of fragile X syndrome

Oral‐facial‐digital syndrome VII is oral‐facial‐digital syndrome I: A clarification

Boy with 47,XXY,del(15)(q11.2q13) karyotype and Prader–Willi syndrome: A new case and review of the literature

Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype-phenotype correlation in 38 classical citrullinemia patients: ASS MUTATIONS IN CITRULLINEMIA

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