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Diagnostic exome sequencing in children: A survey of parental understanding, experience and psychological impact

Clinical genetics, 2018-05, Vol.93 (5), p.1039-1048

2018

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Partial uniparental disomy with mosaic deletion 13q in an infant with multiple congenital anomalies

American journal of medical genetics. Part A, 2013-09, Vol.161A (9), p.2393-2395

2013

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Molecular Definition of 22q11 Deletions in 151 Velo-Cardio-Facial Syndrome Patients

American journal of human genetics, 1997-09, Vol.61 (3), p.620-629

1997

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Brain Abnormalities in Patients with Germline Variants in H3F3 : Novel Imaging Findings and Neurologic Symptoms Beyond Somatic Variants and Brain Tumors

American journal of neuroradiology : AJNR, 2022-07, Vol.43 (7), p.1048-1053

2022

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Congenital myopathy, recurrent secretory diarrhea, bullous eruption of skin, microcephaly, and deafness: A new genetic syndrome?

American journal of medical genetics. Part A, 2003-01, Vol.116A (1), p.20-25

2003

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Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletion

Nature genetics, 2000-01, Vol.24 (1), p.84-87

2000

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Networks of Attention in Children With the 22q11 Deletion Syndrome

Developmental neuropsychology, 2004-01, Vol.26 (2), p.611-626

2004

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NEUROPSYCHOLOGICAL CHARACTERISTICS OF CHILDREN WITH THE 22Q11 DELETION SYNDROME: A DESCRIPTIVE ANALYSIS

Child neuropsychology, 2005-02, Vol.11 (1), p.39-53

2005

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Nine novel mutations in NR0B1 (DAX1) causing adrenal hypoplasia congenita

Human mutation, 2001-12, Vol.18 (6), p.547-547

2001

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Cerebro-Oculo-Facio-Skeletal Syndrome with a Nucleotide Excision–Repair Defect and a Mutated XPD Gene, with Prenatal Diagnosis in a Triplet Pregnancy

American journal of human genetics, 2001-08, Vol.69 (2), p.291-300

2001

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Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen

Human molecular genetics, 2013-01, Vol.22 (1), p.1-17

2013

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Application of ROMA (representational oligonucleotide microarray analysis) to patients with cytogenetic rearrangements

Genetics in medicine, 2005-02, Vol.7 (2), p.111-118

2005

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Homozygosity for Multiple Contiguous Single-Nucleotide Polymorphisms as an Indicator of Large Heterozygous Deletions: Identification of a Novel Heterozygous 8-kb Intragenic Deletion (IVS7–19 to IVS15–17) in a Patient with Glycogen Storage Disease Type II

American journal of human genetics, 2002-04, Vol.70 (4), p.1054-1057

2002

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Cutis Verticis Gyrata in a Patient with Noonan Syndrome

Pediatric dermatology, 2005-03, Vol.22 (2), p.142-146

2005

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Calcium ionophore-induced degradation of neurofilament and cell death in MSN neuroblastoma cells

Neurochemical research, 1998-03, Vol.23 (3), p.393-400

1998

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Baller-Gerold syndrome Craniosynostosis-radial aplasia syndrome

Clinical genetics, 1980-02, Vol.17 (2), p.161-166

1980

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Paternal germline mosaicism in Herlitz junctional epidermolysis bullosa

Experimental dermatology, 2002-10, Vol.11 (5), p.468-470

2002

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Identification of six novel mutations in the acid alpha-glucosidase gene in three Spanish patients with infantile onset glycogen storage disease type II (Pompe disease)

Neuromuscular disorders : NMD, 2002-02, Vol.12 (2), p.159-166

2002

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Hemoglobinopathy screening during early pregnancy

Pediatrics (Evanston), 1989-05, Vol.83 (5 Pt 2), p.881-883

Anyane-Yeboa, K

1989

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Maternal Germline Mosaicism in Dominant Dystrophic Epidermolysis Bullosa

Journal of investigative dermatology, 2001-11, Vol.117 (5), p.1327-1328

2001

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Myelomeningocele, Arnold-Chiari anomaly and hydrocephalus in focal dermal hypoplasia

American journal of medical genetics, 1988-08, Vol.30 (4), p.917-923

1988

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First-trimester transvaginal ultrasonographic diagnosis of Dandy-Walker malformation

American journal of perinatology, 2001, Vol.18 (7), p.373-377

2001

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Preliminary definition of a "critical region" of chromosome 13 in q32: Report of 14 cases with 13q deletions and review of the literature

American journal of medical genetics, 1993-01, Vol.45 (1), p.52-59

1993

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First-Trimester Transvaginal Ultrasonographic Diagnosis of Dandy-Walker Malformation

American journal of perinatology, 2001-11, Vol.18 (7), p.373-378

2001

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Newborn screening for hemoglobinopathies: the benefit beyond the target

American journal of public health (1971), 1986-10, Vol.76 (10), p.1236-1237

1986

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Diagnostic exome sequencing in children: A survey of parental understanding, experience and psychological impact

Partial uniparental disomy with mosaic deletion 13q in an infant with multiple congenital anomalies

Molecular Definition of 22q11 Deletions in 151 Velo-Cardio-Facial Syndrome Patients

Brain Abnormalities in Patients with Germline Variants in H3F3 : Novel Imaging Findings and Neurologic Symptoms Beyond Somatic Variants and Brain Tumors

Congenital myopathy, recurrent secretory diarrhea, bullous eruption of skin, microcephaly, and deafness: A new genetic syndrome?

Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletion

Networks of Attention in Children With the 22q11 Deletion Syndrome

NEUROPSYCHOLOGICAL CHARACTERISTICS OF CHILDREN WITH THE 22Q11 DELETION SYNDROME: A DESCRIPTIVE ANALYSIS

Nine novel mutations in NR0B1 (DAX1) causing adrenal hypoplasia congenita

Cerebro-Oculo-Facio-Skeletal Syndrome with a Nucleotide Excision–Repair Defect and a Mutated XPD Gene, with Prenatal Diagnosis in a Triplet Pregnancy

Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen

Application of ROMA (representational oligonucleotide microarray analysis) to patients with cytogenetic rearrangements

Homozygosity for Multiple Contiguous Single-Nucleotide Polymorphisms as an Indicator of Large Heterozygous Deletions: Identification of a Novel Heterozygous 8-kb Intragenic Deletion (IVS7–19 to IVS15–17) in a Patient with Glycogen Storage Disease Type II

Cutis Verticis Gyrata in a Patient with Noonan Syndrome

Calcium ionophore-induced degradation of neurofilament and cell death in MSN neuroblastoma cells

Baller-Gerold syndrome Craniosynostosis-radial aplasia syndrome

Paternal germline mosaicism in Herlitz junctional epidermolysis bullosa

Identification of six novel mutations in the acid alpha-glucosidase gene in three Spanish patients with infantile onset glycogen storage disease type II (Pompe disease)

Hemoglobinopathy screening during early pregnancy

Maternal Germline Mosaicism in Dominant Dystrophic Epidermolysis Bullosa

Myelomeningocele, Arnold-Chiari anomaly and hydrocephalus in focal dermal hypoplasia

First-trimester transvaginal ultrasonographic diagnosis of Dandy-Walker malformation

Preliminary definition of a "critical region" of chromosome 13 in q32: Report of 14 cases with 13q deletions and review of the literature

First-Trimester Transvaginal Ultrasonographic Diagnosis of Dandy-Walker Malformation

Newborn screening for hemoglobinopathies: the benefit beyond the target

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