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GestaltMatcher facilitates rare disease matching using facial phenotype descriptors

Nature genetics, 2022-03, Vol.54 (3), p.349-357

2022

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Bi-allelic truncating mutations in VWA1 cause neuromyopathy

Brain (London, England : 1878), 2021-03, Vol.144 (2), p.574-583

2021

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Loss-of-function variants in HIVEP2 are a cause of intellectual disability

European journal of human genetics : EJHG, 2016-04, Vol.24 (4), p.556-561

2016

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De novo FBXO11 mutations are associated with intellectual disability and behavioural anomalies

Human genetics, 2018-05, Vol.137 (5), p.401-411

2018

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De novo nonsense and frameshift variants of TCF20 in individuals with intellectual disability and postnatal overgrowth

European journal of human genetics : EJHG, 2016-12, Vol.24 (12), p.1739-1745

2016

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A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients

European journal of human genetics : EJHG, 2009-12, Vol.17 (12), p.1592-1599

2009

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Manchmal hilft nur ein Blick in die Gene weiter

Pädiatrie : Kinder- und Jugendmedizin hautnah, 2021-09, Vol.33 (S2), p.52-55

2021

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Whole exome sequencing and array-based molecular karyotyping as aids to prenatal diagnosis in fetuses with suspected Simpson-Golabi-Behmel syndrome

Prenatal diagnosis, 2016-10, Vol.36 (10), p.961-965

2016

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The phenotypic spectrum of duplication 5q35.2-q35.3 encompassing NSD1: Is it really a reversed sotos syndrome?

American journal of medical genetics. Part A, 2013-09, Vol.161A (9), p.2158-2166

2013

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De Novo Duplication of 11p15 Associated With Congenital Diaphragmatic Hernia

Frontiers in pediatrics, 2018-04, Vol.6, p.116

2018

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A phenotype map for 14q32.3 terminal deletions

American journal of medical genetics. Part A, 2012-04, Vol.158A (4), p.695-706

2012

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Rare interstitial deletion 9q31.2 to q33.1 de novo: Longitudinal study in a patient over a period of more than 20 years

American journal of medical genetics. Part A, 2008-05, Vol.146A (9), p.1180-1184

2008

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Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations

Journal of medical genetics, 2007-02, Vol.44 (2), p.131-135

2007

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A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients

European journal of human genetics : EJHG, 2009-12, Vol.17 (12), p.1592-1599

2009

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Syndromale und nichtsyndromale orofaziale Spalten

Medizinische Genetik, 2017, Vol.29 (4), p.397-412

2017

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Primary immunodeficiency in combination with transverse upper limb defect and anal atresia in a 34‐year‐old patient with Jacobsen syndrome

American journal of medical genetics, 2004-04, Vol.126A (3), p.293-298

2004

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Syndromale und nichtsyndromale orofaziale Spalten

Medizinische Genetik, 2017-12, Vol.29 (4), p.397-412

2017

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GestaltMatcher facilitates rare disease matching using facial phenotype descriptors

Nature genetics, 2022-03, Vol.54 (3), p.349-2

2022

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GestaltMatcher: Overcoming the limits of rare disease matching using facial phenotypic descriptors

Nature genetics, 2022-02, Vol.54 (3), p.349-357

2022

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Autosomal-dominant non-syndromic anal atresia: sequencing of candidate genes, array-based molecular karyotyping, and review of the literature

European journal of pediatrics, 2011-06, Vol.170 (6), p.741-746

2011

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Clinical and molecular characterization of two patients with overlapping de novo microdeletions in 2p14-p15 and mild mental retardation

European journal of medical genetics, 2011-01, Vol.54 (1), p.67-72

2011

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De Novo Duplication of 11p15 Associated With Congenital Diaphragmatic Hernia

Frontiers in pediatrics, 2018, Vol.6, p.116-116

2018

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Rare interstitial deletion 9q31.2 to q33.1 de novo: Longitudinal study in a patient over a period of more than 20 years

American Journal of Medical Genetics Part A, 2008, Vol.146A (9), p.1180-1184

2008

Volltextzugriff (PDF)

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GestaltMatcher facilitates rare disease matching using facial phenotype descriptors

Bi-allelic truncating mutations in VWA1 cause neuromyopathy

Adult‐Onset Neurodegeneration in Nucleotide Excision Repair Disorders (NERDND): Time to Move Beyond the Skin

Loss-of-function variants in HIVEP2 are a cause of intellectual disability

De novo FBXO11 mutations are associated with intellectual disability and behavioural anomalies

De novo nonsense and frameshift variants of TCF20 in individuals with intellectual disability and postnatal overgrowth

A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients

Manchmal hilft nur ein Blick in die Gene weiter

Whole exome sequencing and array-based molecular karyotyping as aids to prenatal diagnosis in fetuses with suspected Simpson-Golabi-Behmel syndrome

The phenotypic spectrum of duplication 5q35.2-q35.3 encompassing NSD1: Is it really a reversed sotos syndrome?

De Novo Duplication of 11p15 Associated With Congenital Diaphragmatic Hernia

A phenotype map for 14q32.3 terminal deletions

Rare interstitial deletion 9q31.2 to q33.1 de novo: Longitudinal study in a patient over a period of more than 20 years

Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations

A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients

Syndromale und nichtsyndromale orofaziale Spalten

Monoallelic loss-of-function variants in GSK3B lead to autism and developmental delay

Primary immunodeficiency in combination with transverse upper limb defect and anal atresia in a 34‐year‐old patient with Jacobsen syndrome

Syndromale und nichtsyndromale orofaziale Spalten

GestaltMatcher facilitates rare disease matching using facial phenotype descriptors

GestaltMatcher: Overcoming the limits of rare disease matching using facial phenotypic descriptors

Autosomal-dominant non-syndromic anal atresia: sequencing of candidate genes, array-based molecular karyotyping, and review of the literature

Clinical and molecular characterization of two patients with overlapping de novo microdeletions in 2p14-p15 and mild mental retardation

De Novo Duplication of 11p15 Associated With Congenital Diaphragmatic Hernia

Rare interstitial deletion 9q31.2 to q33.1 de novo: Longitudinal study in a patient over a period of more than 20 years

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