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Loss-of-Function Mutations in the Human GLI2 Gene Are Associated with Pituitary Anomalies and Holoprosencephaly-like Features

Proceedings of the National Academy of Sciences - PNAS, 2003-11, Vol.100 (23), p.13424-13429

2003

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Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomes

Genome research, 2011-01, Vol.21 (1), p.33-46

2011

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Risk Factors for Perinatal Arterial Stroke: A Study of 60 Mother-Child Pairs

Pediatric neurology, 2007-08, Vol.37 (2), p.99-107

2007

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Holoprosencephaly due to mutations in ZIC2 , a homologue of Drosophila odd-paired

Nature genetics, 1998-10, Vol.20 (2), p.180-183

1998

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Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms

Molecular genetics & genomic medicine, 2021-10, Vol.9 (10), p.e1809-n/a

2021

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Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly

Nature genetics, 2017-10, Vol.49 (10), p.1529-1538

2017

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Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size

Journal of medical genetics, 2010-05, Vol.47 (5), p.332-341

2010

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Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

Nature genetics, 2008-12, Vol.40 (12), p.1466-1471

2008

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Intranasal Carbetocin Reduces Hyperphagia, Anxiousness, and Distress in Prader-Willi Syndrome: CARE-PWS Phase 3 Trial

The journal of clinical endocrinology and metabolism, 2023-07, Vol.108 (7), p.1696-1708

2023

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Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals

European journal of human genetics : EJHG, 2024-04, Vol.32 (8), p.928-937

2024

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Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins

Human genetics, 2016-05, Vol.135 (5), p.569-586

2016

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Correction: Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals

European journal of human genetics : EJHG, 2024-07, Vol.32 (8), p.1032-1032

2024

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Recurring germline mosaicism in a family due to reversion of an inherited derivative chromosome 8 from an 8;21 translocation with interstitial telomeric sequences

Journal of medical genetics, 2023-06, Vol.60 (6), p.547-556

2023

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Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly

American journal of human genetics, 2023-03, Vol.110 (3), p.499-515

2023

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Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications

Human molecular genetics, 2011-05, Vol.20 (10), p.1975-1988

2011

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Recurrent microdeletions of 15q25.2 are associated with increased risk of congenital diaphragmatic hernia, cognitive deficits and possibly Diamond–Blackfan anaemia

Journal of medical genetics, 2010-11, Vol.47 (11), p.777-781

2010

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Chromosomal microarray analysis (CMA) detects a large X chromosome deletion including FMR1, FMR2, and IDS in a female patient with mental retardation

American journal of medical genetics. Part A, 2007-06, Vol.143A (12), p.1358-1365

2007

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The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis

Genetics in medicine, 2020-02, Vol.22 (2), p.389-397

2020

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Mutation update for the SATB2 gene

Human mutation, 2019-08, Vol.40 (8), p.1013-1029, Article humu.23771

2019

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NUDT21-spanning CNVs lead to neuropsychiatric disease and altered MeCP2 abundance via alternative polyadenylation

Loss-of-Function Mutations in the Human GLI2 Gene Are Associated with Pituitary Anomalies and Holoprosencephaly-like Features

Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomes

Risk Factors for Perinatal Arterial Stroke: A Study of 60 Mother-Child Pairs

Holoprosencephaly due to mutations in ZIC2 , a homologue of Drosophila odd-paired

Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms

Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly

Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants

Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation

Intranasal Carbetocin Reduces Hyperphagia, Anxiousness, and Distress in Prader-Willi Syndrome: CARE-PWS Phase 3 Trial

Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals

Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins

Correction: Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals

Variants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disorders

Recurring germline mosaicism in a family due to reversion of an inherited derivative chromosome 8 from an 8;21 translocation with interstitial telomeric sequences

Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly

Pathogenic MAST3 Variants in the STK Domain Are Associated with Epilepsy

Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications

De novo heterozygous missense and loss‐of‐function variants in CDC42BPB are associated with a neurodevelopmental phenotype

Recurrent microdeletions of 15q25.2 are associated with increased risk of congenital diaphragmatic hernia, cognitive deficits and possibly Diamond–Blackfan anaemia

Chromosomal microarray analysis (CMA) detects a large X chromosome deletion including FMR1, FMR2, and IDS in a female patient with mental retardation

The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis

Mutation update for the SATB2 gene

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