List of works - Anna Lehman

19p13.2 microduplication causes a Sotos syndrome-like phenotype and alters gene expression.

scientific article

A Clinical Classification Scheme for Tracheobronchomegaly (Mounier-Kuhn Syndrome).

scientific article published on 19 July 2015

A characteristic syndrome associated with microduplication of 8q12, inclusive of CHD7.

scientific article published on 17 September 2009

A novel RYR2 loss-of-function mutation (I4855M) is associated with left ventricular non-compaction and atypical catecholaminergic polymorphic ventricular tachycardia.

scientific article published on 8 September 2016

Additional post-natal diagnoses following antenatal diagnosis of isolated cleft lip +/− palate.

scientific article published on 13 March 2014

Anterolateral diaphragmatic hernia with body wall defect understood in relation to the abaxial domain

scientific article published on 03 April 2014

BMPER variants associated with a novel, attenuated subtype of diaphanospondylodysostosis.

scientific article published on 15 October 2015

Child Neurology: Krabbe disease: a potentially treatable white matter disorder.

scientific article published in November 2012

Childhood-onset hemiatrophy caused by unilateral morphea

scientific article published in October 2009

Co-occurrence of Joubert syndrome and Jeune asphyxiating thoracic dystrophy.

scientific article

Corneal findings in Parry–Romberg syndrome

scientific article published in February 2014

Cost Analysis of Patients Referred for Inherited Heart Rhythm Disorder Evaluation.

scientific article published on 20 December 2016

DECIDE: a Decision Support Tool to Facilitate Parents' Choices Regarding Genome-Wide Sequencing.

scientific article published on 23 May 2016

De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome

scientific journal article

Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans

scientific article

Diffuse angiopathy in Adams-Oliver syndrome associated with truncating DOCK6 mutations.

scientific article published on 4 August 2014

Emphysema in an adult with galactosialidosis linked to a defect in primary elastic fiber assembly

scientific article published on 8 February 2012

Etiologies of uterine malformations

scientific article

Evidence of ancillary trigeminal innervation of levator palpebrae in the general population.

scientific article

Exome Sequencing and the Management of Neurometabolic Disorders.

scientific article published on 25 May 2016

Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome

scientific article

How do Physicians Decide to Refer Their Patients for Psychiatric Genetic Counseling? A Qualitative Study of Physicians' Practice.

scientific article

Hypogonadotropic Hypogonadism in Males with Glycogen Storage Disease Type 1.

scientific article published on 4 February 2017

Identifying candidate genes for 2p15p16.1 microdeletion syndrome using clinical, genomic, and functional analysis.

scientific article

Intracranial calcification after cord blood neonatal transplantation for krabbe disease

scientific article published in August 2009

Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy

scientific article published on 27 June 2017

Mitochondrial carbonic anhydrase VA deficiency resulting from CA5A alterations presents with hyperammonemia in early childhood

scientific article published on 13 February 2014

Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis.

scientific article published on March 2016

Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis.

scientific article published on 07 October 2013

Mutations in NOTCH1 cause Adams-Oliver syndrome

scientific article (publication date: 4 September 2014)

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

scientific journal article

Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies ⬇️

scientific article published on 6 March 2017

New developmental syndromes: Understanding the family experience

scientific article published on 02 April 2019

OCRL1 mutations in Dent 2 patients suggest a mechanism for phenotypic variability

scientific article (publication date: 2009)

Patient Recall, Interpretation, and Perspective of an Inconclusive Long QT Syndrome Genetic Test Result

scientific article published on 2 July 2016

Prenatal ultrasound and MRI findings of temporal and occipital lobe dysplasia in a twin with achondroplasia.

scientific article published in September 2014

Schinzel-Giedion syndrome: report of splenopancreatic fusion and proposed diagnostic criteria

scientific article published in May 2008

Transcriptional regulation of BACE1, the beta-amyloid precursor protein beta-secretase, by Sp1.

scientific article published on January 2004

Treatable inborn errors of metabolism causing neurological symptoms in adults

scientific article published on December 2013

List of works by Anna Lehman

19p13.2 microduplication causes a Sotos syndrome-like phenotype and alters gene expression.

A Clinical Classification Scheme for Tracheobronchomegaly (Mounier-Kuhn Syndrome).

A characteristic syndrome associated with microduplication of 8q12, inclusive of CHD7.

A novel RYR2 loss-of-function mutation (I4855M) is associated with left ventricular non-compaction and atypical catecholaminergic polymorphic ventricular tachycardia.

Additional post-natal diagnoses following antenatal diagnosis of isolated cleft lip +/− palate.

Anterolateral diaphragmatic hernia with body wall defect understood in relation to the abaxial domain

BMPER variants associated with a novel, attenuated subtype of diaphanospondylodysostosis.

Child Neurology: Krabbe disease: a potentially treatable white matter disorder.

Childhood-onset hemiatrophy caused by unilateral morphea

Co-occurrence of Joubert syndrome and Jeune asphyxiating thoracic dystrophy.

Corneal findings in Parry–Romberg syndrome

Cost Analysis of Patients Referred for Inherited Heart Rhythm Disorder Evaluation.

DECIDE: a Decision Support Tool to Facilitate Parents' Choices Regarding Genome-Wide Sequencing.

De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome

Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans

Diffuse angiopathy in Adams-Oliver syndrome associated with truncating DOCK6 mutations.

Emphysema in an adult with galactosialidosis linked to a defect in primary elastic fiber assembly

Etiologies of uterine malformations

Evidence of ancillary trigeminal innervation of levator palpebrae in the general population.

Exome Sequencing and the Management of Neurometabolic Disorders.

Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome

How do Physicians Decide to Refer Their Patients for Psychiatric Genetic Counseling? A Qualitative Study of Physicians' Practice.

Hypogonadotropic Hypogonadism in Males with Glycogen Storage Disease Type 1.

Identifying candidate genes for 2p15p16.1 microdeletion syndrome using clinical, genomic, and functional analysis.

Intracranial calcification after cord blood neonatal transplantation for krabbe disease

Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy

Mitochondrial carbonic anhydrase VA deficiency resulting from CA5A alterations presents with hyperammonemia in early childhood

Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis.

Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis.

Mutations in NOTCH1 cause Adams-Oliver syndrome

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

Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies ⬇️

New developmental syndromes: Understanding the family experience

OCRL1 mutations in Dent 2 patients suggest a mechanism for phenotypic variability

Patient Recall, Interpretation, and Perspective of an Inconclusive Long QT Syndrome Genetic Test Result

Prenatal ultrasound and MRI findings of temporal and occipital lobe dysplasia in a twin with achondroplasia.

Schinzel-Giedion syndrome: report of splenopancreatic fusion and proposed diagnostic criteria

Transcriptional regulation of BACE1, the beta-amyloid precursor protein beta-secretase, by Sp1.

Treatable inborn errors of metabolism causing neurological symptoms in adults