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Inborn errors of type I IFN immunity in patients with life-threatening COVID-19

Science (American Association for the Advancement of Science), 2020-10, Vol.370 (6515)

2020

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CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome

Human molecular genetics, 2005-07, Vol.14 (14), p.1935-1946

2005

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Early-onset seizure variant of Rett syndrome: Definition of the clinical diagnostic criteria

Brain & development (Tokyo. 1979), 2010-01, Vol.32 (1), p.17-24

2010

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Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

Nature (London), 2011-10, Vol.478 (7367), p.97-102

2011

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X-linked Alport syndrome: Natural history and genotype-phenotype correlations in girls and women belonging to 195 families: A European Community Alport Syndrome Concerted Action Study

Journal of the American Society of Nephrology, 2003-10, Vol.14 (10), p.2603-2610

2003

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Autosomal-dominant Alport syndrome: Natural history of a disease due to COL4A3 or COL4A4 gene

Kidney international, 2004-05, Vol.65 (5), p.1598-1603

2004

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CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms

Journal of medical genetics, 2005-02, Vol.42 (2), p.103-107

2005

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Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy

American journal of human genetics, 2019-06, Vol.104 (6), p.1210-1222

2019

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Interstitial 22q13 deletions not involving SHANK3 gene: A new contiguous gene syndrome

American journal of medical genetics. Part A, 2014-07, Vol.164A (7), p.1666-1676

2014

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Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients

Orphanet journal of rare diseases, 2011-06, Vol.6 (1), p.38-38, Article 38

2011

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Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes

Molecular psychiatry, 2017-06, Vol.22 (6), p.836-849

2017

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A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology

American journal of human genetics, 2015-05, Vol.96 (5), p.784-796

2015

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FACL4 , encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation

Nature genetics, 2002-04, Vol.30 (4), p.436-440

2002

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Autosomal recessive Alport syndrome: an in-depth clinical and molecular analysis of five families

Nephrology, dialysis, transplantation, 2006-03, Vol.21 (3), p.665-671

2006

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Recurrent duplications of 17q12 associated with variable phenotypes

American journal of medical genetics. Part A, 2015-12, Vol.167A (12), p.3038-3045

2015

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Thin glomerular basement membrane disease: clinical significance of a morphological diagnosis—a collaborative study of the Italian Renal Immunopathology Group

Nephrology, dialysis, transplantation, 2005-03, Vol.20 (3), p.545-551

2005

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The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP

Orphanet journal of rare diseases, 2013-04, Vol.8 (1), p.63-63

2013

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Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients

Human mutation, 2008-10, Vol.29 (10), p.1237-1246

2008

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Retinoblastoma and mental retardation microdeletion syndrome: clinical characterization and molecular dissection using array CGH

Journal of human genetics, 2007-06, Vol.52 (6), p.535-542

2007

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Preserved speech variant is allelic of classic Rett syndrome

European journal of human genetics : EJHG, 2000-05, Vol.8 (5), p.325-330

2000

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A large-scale association study to assess the impact of known variants of the human INHA gene on premature ovarian failure

Human reproduction (Oxford), 2009-08, Vol.24 (8), p.2023-2028

2009

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Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation

European journal of medical genetics, 2012-06, Vol.55 (6), p.404-413

2012

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Epidermal basement membrane alpha 5(IV) expression in females with Alport syndrome and severity of renal disease

Kidney international, 2003-11, Vol.64 (5), p.1787-1791

2003

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A third MRX family (MRX68) is the result of mutation in the long chain fatty acid-CoA ligase 4 (FACL4) gene: proposal of a rapid enzymatic assay for screening mentally retarded patients

Journal of medical genetics, 2003-01, Vol.40 (1), p.11-17

2003

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Inborn errors of type I IFN immunity in patients with life-threatening COVID-19

CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome

Early-onset seizure variant of Rett syndrome: Definition of the clinical diagnostic criteria

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

X-linked Alport syndrome: Natural history and genotype-phenotype correlations in girls and women belonging to 195 families: A European Community Alport Syndrome Concerted Action Study

Autosomal-dominant Alport syndrome: Natural history of a disease due to COL4A3 or COL4A4 gene

CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy

Interstitial 22q13 deletions not involving SHANK3 gene: A new contiguous gene syndrome

Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients

Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes

A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology

16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy

FACL4 , encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation

Autosomal recessive Alport syndrome: an in-depth clinical and molecular analysis of five families

Recurrent duplications of 17q12 associated with variable phenotypes

Thin glomerular basement membrane disease: clinical significance of a morphological diagnosis—a collaborative study of the Italian Renal Immunopathology Group

The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP

Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients

Retinoblastoma and mental retardation microdeletion syndrome: clinical characterization and molecular dissection using array CGH

Preserved speech variant is allelic of classic Rett syndrome

A large-scale association study to assess the impact of known variants of the human INHA gene on premature ovarian failure

Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation

Epidermal basement membrane alpha 5(IV) expression in females with Alport syndrome and severity of renal disease

A third MRX family (MRX68) is the result of mutation in the long chain fatty acid-CoA ligase 4 (FACL4) gene: proposal of a rapid enzymatic assay for screening mentally retarded patients

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