P. Krawitz

发表

Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis

N. Brown, S. Köhler, D. Horn, 2017, bioRxiv.

Clinical diagnostics in human genetics with semantic similarity searches in ontologies.

Marcel H. Schulz, Peter N. Robinson, S. Köhler, 2009, American journal of human genetics.

Disruptions of Topological Chromatin Domains Cause Pathogenic Rewiring of Gene-Enhancer Interactions

A. Visel, J. Opitz, D. Horn, 2015, Cell.

Significantly different clinical phenotypes associated with mutations in synthesis and transamidase+remodeling glycosylphosphatidylinositol (GPI)-anchor biosynthesis genes

P. Robinson, Hannah Blau, P. Krawitz, 2020, Orphanet Journal of Rare Diseases.

Improved exome prioritization of disease genes through cross-species phenotype comparison

Damian Smedley, Sebastian Bauer, Melissa Haendel, 2014, Genome research.

Identifying facial phenotypes of genetic disorders using deep learning

Peter M. Krawitz, Yaron Gurovich, Guy Nadav, 2019, Nature Medicine.

Basin entropy in Boolean network ensembles.

I. Shmulevich, P. Krawitz, 2007, Physical review letters.

Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardation.

A. Pagnamenta, P. Robinson, D. Horn, 2014, American journal of human genetics.

A case of paroxysmal nocturnal hemoglobinuria caused by a germline mutation and a somatic mutation in PIGT.

P. Robinson, S. Mundlos, D. Parkhomchuk, 2013, Blood.

Key Point : A carrier of a deleterious splice site mutation in PIGT acquired a second hit in PIGT and developed PNH

P. Robinson, S. Mundlos, D. Parkhomchuk, 2013 .

PIGT mutation and a somatic mutation in A case of paroxysmal nocturnal hemoglobinuria caused by a germline

P. Robinson, S. Mundlos, D. Parkhomchuk, 2013 .

Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome

Sebastian Bauer, Sebastian Köhler, Christian Rödelsperger, 2010, Nature Genetics.

Estimating exome genotyping accuracy by comparing to data from large scale sequencing projects

Tom Kamphans, Thorsten Dickhaus, Verena Heinrich, 2013, Genome Medicine.

Whole exome sequencing identified a novel zinc-finger gene ZNF141 associated with autosomal recessive postaxial polydactyly type A

S. Mundlos, P. Krawitz, E. Klopocki, 2012, Journal of Medical Genetics.

Strategies for exome and genome sequence data analysis in disease‐gene discovery projects

P. Robinson, S. Mundlos, P. Krawitz, 2011, Clinical genetics.

Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome

Damian Smedley, Yves Moreau, Melissa Haendel, 2014, Science Translational Medicine.

Microindel detection in short-read sequence data

Sebastian Bauer, Christian Rödelsperger, Peter M. Krawitz, 2010, Bioinform..

Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3.

S. Mundlos, P. Krawitz, J. Hecht, 2014, Brain : a journal of neurology.

Screening for single nucleotide variants, small indels and exon deletions with a next-generation sequencing based gene panel approach for Usher syndrome

P. Robinson, S. Mundlos, D. Parkhomchuk, 2014, Molecular genetics & genomic medicine.

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

M. Nöthen, D. Horn, S. Mundlos, 2021, medRxiv.

Multimodal Machine Learning Workflows for Prediction of Psychosis in Patients With Clinical High-Risk Syndromes and Recent-Onset Depression

K. Heekeren, P. Falkai, R. Lencer, 2020, JAMA psychiatry.

Key features and clinical variability of COG6-CDG.

Gert Matthijs, Uwe Kornak, Hubertus C M T Prinsen, 2015, Molecular genetics and metabolism.

Mutations in WNT1 cause different forms of bone fragility.

S. Mundlos, K. Garcia, P. Krawitz, 2013, American journal of human genetics.

Boosting polygenic risk scores

P. Krawitz, A. Mayr, Hannah Klinkhammer, 2022, bioRxiv.

Dependence of age-specific incidence of acute myeloid leukemia on karyotype.

W. Hiddemann, T. Haferlach, P. Krawitz, 2001, Blood.

Advances in computer-assisted syndrome recognition by the example of inborn errors of metabolism

S. Mundlos, J. Pantel, Nurulhuda Hajjir, 2018, Journal of Inherited Metabolic Disease.

Clinical, Brain, and Multilevel Clustering in Early Psychosis and Affective Stages.

P. Falkai, C. Davatzikos, R. Lencer, 2022, JAMA psychiatry.

First description of a patient with Vici syndrome due to a mutation affecting the penultimate exon of EPG5 and review of the literature

P. Robinson, S. Mundlos, P. Krawitz, 2014, American journal of medical genetics. Part A.

Cross-tissue transcriptome-wide association studies of 885,176 individuals and seven diseases of the gut-brain axis identify susceptibility genes shared between schizophrenia and inflammatory bowel disease

M. Nöthen, S. Brunak, O. Wolkenhauer, 2021 .

Hematologist‐Level Classification of Mature B‐Cell Neoplasm Using Deep Learning on Multiparameter Flow Cytometry Data

T. Haferlach, Max Zhao, P. Krawitz, 2020, medRxiv.

European School of Genetic Medicine 3 rd Course in Next Generation Sequencing

P. Robinson, S. Mundlos, P. Krawitz, 2014 .

KBG Syndrome: Prospective Videoconferencing and Use of AI-driven Facial Phenotyping in 25 New Patients

Tzung-Chien Hsieh, P. Krawitz, G. Lyon, 2021, medRxiv.

De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway

Tzung-Chien Hsieh, N. Fleischer, P. Krawitz, 2022, HGG advances.

A CRISPR-Cas9–engineered mouse model for GPI-anchor deficiency mirrors human phenotypes and exhibits hippocampal synaptic dysfunctions

D. Horn, S. Mundlos, A. Becker, 2020, Proceedings of the National Academy of Sciences.

Whole exome sequencing identifies FGF16 nonsense mutations as the cause of X-linked recessive metacarpal 4/5 fusion

S. Mundlos, P. Krawitz, J. Hecht, 2013, Journal of Medical Genetics.

Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome.

Gabriele Gillessen-Kaesbach, Dagmar Wieczorek, Na Zhu, 2014, American journal of human genetics.

Boolean Modeling of Biological Networks

Ilya Shmulevich, Peter M. Krawitz, I. Shmulevich, 2009, Encyclopedia of Complexity and Systems Science.

Basin entropy in Boolean network ensembles.

I. Shmulevich, P. Krawitz, 2007, Physical review letters.

Multisite de novo mutations in human offspring after paternal exposure to ionizing radiation

S. Mundlos, J. Goldmann, M. Holtgrewe, 2018, Scientific Reports.

CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation.

A. Hoischen, M. Huynen, Y. Wada, 2016, American journal of human genetics.

Broadening of cohesinopathies: exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange‐overlapping phenotype

D. Lazarević, P. Krawitz, E. Watrin, 2016, Clinical genetics.

KBG syndrome: videoconferencing and use of artificial intelligence driven facial phenotyping in 25 new patients

Tzung-Chien Hsieh, P. Krawitz, Kai Wang, 2022, European Journal of Human Genetics.

TBK1 and TNFRSF13B mutations and an autoinflammatory disease in a child with lethal COVID-19

M. Nöthen, Alexej Knaus, P. Krawitz, 2021, NPJ genomic medicine.

Next‐generation phenotyping contributing to the identification of a 4.7 kb deletion in KANSL1 causing Koolen‐de Vries syndrome

Alexej Knaus, Tzung-Chien Hsieh, P. Krawitz, 2022, Human mutation.

Genetics and population analysis A likelihood ratio-based method to predict exact pedigrees for complex families from next-generation sequencing data

P. Robinson, S. Mundlos, P. Krawitz, 2016 .

Few-Shot Meta Learning for Recognizing Facial Phenotypes of Genetic Disorders

Tzung-Chien Hsieh, P. Krawitz, Elisabeth Andr'e, 2022, ArXiv.

PDE3A mutations cause autosomal dominant hypertension with brachydactyly

Andreas Busjahn, Jens Jordan, Herbert Schulz, 2015, Nature Genetics.

Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype-phenotype correlation study.

A. Pagnamenta, Jenny C. Taylor, M. Roselló, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction.

D. Horn, S. Mundlos, T. Mielke, 2017, American journal of human genetics.

De Novo Mutations in SLC 25 A 24 Cause a Craniosynostosis Syndrome with Hypertrichosis , Progeroid Appearance , and Mitochondrial Dysfunction

D. Horn, S. Mundlos, T. Mielke, 2022 .

Molecular mechanism of CHRDL1-mediated X-linked megalocornea in humans and in Xenopus model.

B. Seliger, P. Krawitz, E. Klopocki, 2015, Human molecular genetics.

Distinct global shifts in genomic binding profiles of limb malformation-associated HOXD13 mutations

P. Robinson, D. Horn, S. Mundlos, 2013, Genome research.

Perspectives on the future of dysmorphology

P. Krawitz, B. Solomon, S. Phadke, 2022, American journal of medical genetics. Part A.

Somatic neurofibromatosis type 1 (NF1) inactivation events in cutaneous neurofibromas of a single NF1 patient

P. Robinson, S. Mundlos, M. Spielmann, 2014, European Journal of Human Genetics.

Jannovar: A Java Library for Exome Annotation

Damian Smedley, Sebastian Bauer, Marten Jäger, 2014, Human mutation.

Homeotic arm-to-leg transformation associated with genomic rearrangements at the PITX1 locus.

P. Robinson, S. Mundlos, M. Spielmann, 2012, American journal of human genetics.

GestaltMatcher facilitates rare disease matching using facial phenotype descriptors

M. Nöthen, D. Horn, S. Mundlos, 2022, Nature Genetics.

Loss-of-function mutations in the IL-21 receptor gene cause a primary immunodeficiency syndrome

A. Schäffer, A. Schambach, P. Robinson, 2013, The Journal of experimental medicine.

Mechanism for Release of Alkaline Phosphatase Caused by Glycosylphosphatidylinositol Deficiency in Patients with Hyperphosphatasia Mental Retardation Syndrome*

P. Robinson, S. Mundlos, P. Krawitz, 2012, The Journal of Biological Chemistry.

PGAP2 mutations, affecting the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation syndrome.

Na Zhu, Peter M. Krawitz, Stefan Mundlos, 2013, American journal of human genetics.

Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation.

P. Robinson, D. Horn, S. Mundlos, 2012, American journal of human genetics.

Complement and inflammasome overactivation mediates paroxysmal nocturnal hemoglobinuria with autoinflammation.

Alexej Knaus, M. Jäger, P. Krawitz, 2019, The Journal of clinical investigation.

Chromatin-remodeling factor SMARCD2 regulates transcriptional networks controlling differentiation of neutrophil granulocytes

A. Schäffer, J. Gagneur, E. Wolf, 2017, Nature Genetics.

[Artificial intelligence in the diagnosis of rare disorders: the development of phenotype analysis].

P. Krawitz, 2022, Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz.

Challenges ahead for matchmaking

Peter M. Krawitz, P. Krawitz, 2016, it Inf. Technol..

Filtering for Compound Heterozygous Sequence Variants in Non-Consanguineous Pedigrees

Tom Kamphans, Na Zhu, Peter M. Krawitz, 2013, PloS one.

Prioritization of non-coding elements involved in non-syndromic cleft lip with/without cleft palate through genome-wide analysis of de novo mutations

M. Holtgrewe, D. Beule, P. Krawitz, 2022, HGG advances.

DeepGestalt - Identifying Rare Genetic Syndromes Using Deep Learning pdf

Peter M. Krawitz, Yaron Gurovich, Omri Bar, 2018, ArXiv.

The GA4GH Phenopacket schema: A computable representation of clinical data for precision medicine

Julius O. B. Jacobsen, Michael A. Gargano, Peter N. Robinson, 2021, medRxiv.

Identity-by-descent filtering of exome sequence data for disease–gene identification in autosomal recessive disorders

Sebastian Bauer, Peter N. Robinson, Abigail W. Bigham, 2011, Bioinform..

The Genomic Birthday Paradox: How Much Is Enough?

Orion J. Buske, P. Robinson, M. Brudno, 2015, Human mutation.

Somatic neuro fi bromatosis type 1 ( NF 1 ) inactivation events in cutaneous neuro fi bromas of a single NF 1 patient

P. Robinson, S. Mundlos, M. Spielmann, 2014 .

Doubly heterozygous LMNA and TTN mutations revealed by exome sequencing in a severe form of dilated cardiomyopathy

P. Robinson, G. Condorelli, G. Faggian, 2013, European Journal of Human Genetics.

GeneTalk: an expert exchange platform for assessing rare sequence variants in personal genomes

Tom Kamphans, Peter M. Krawitz, P. Krawitz, 2012, Bioinform..

Misregulation of mitotic chromosome segregation in a new type of autosomal recessive primary microcephaly

P. Robinson, S. Mundlos, P. Krawitz, 2011, Cell cycle.

DeepCNV: a deep learning approach for authenticating copy number variations

Xiurui Hou, Jie Zhang, Peter Krawitz, 2021, Briefings Bioinform..

Combining callers improves the detection of copy number variants from whole-genome sequencing

D. Horn, S. Mundlos, M. Spielmann, 2021, European Journal of Human Genetics.

Combining callers improves the detection of copy number variants from whole-genome sequencing

D. Horn, S. Mundlos, M. Spielmann, 2021, European Journal of Human Genetics.

Mutations in PIGU Impair the Function of the GPI Transamidase Complex, Causing Severe Intellectual Disability, Epilepsy, and Brain Anomalies.

D. Horn, Alexej Knaus, F. Kortüm, 2019, American journal of human genetics.

Complement- and inflammasome-mediated autoinflammation-paroxysmal nocturnal hemoglobinuria

Alexej Knaus, P. Krawitz, Y. Kanakura, 2019, bioRxiv.

Sex-Specific Genetic Associations for Barrett's Esophagus and Esophageal Adenocarcinoma.

C. Caldas, P. Pharoah, Jingyan Dong, 2020, Gastroenterology.

Extending the allelic spectrum at noncoding risk loci of orofacial clefting

A. Hoischen, J. Bowes, A. Buness, 2021, Human mutation.

The allele distribution in next-generation sequencing data sets is accurately described as the result of a stochastic branching process

Sebastian Bauer, Thorsten Dickhaus, Peter M. Krawitz, 2011, Nucleic acids research.

PHIP-associated Chung-Jansen syndrome: Report of 23 new individuals

C. Depienne, A. Afenjar, D. Wieczorek, 2023, Frontiers in Cell and Developmental Biology.

GestaltMatcher facilitates rare disease matching using facial phenotype descriptors

D. Horn, S. Mundlos, M. Spielmann, 2022, Nature Genetics.

The Discovery of a LEMD2-Associated Nuclear Envelopathy with Early Progeroid Appearance Suggests Advanced Applications for AI-Driven Facial Phenotyping.

Tzung-Chien Hsieh, P. Krawitz, C. Gilissen, 2019, American journal of human genetics.

Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases.

J. Rosenfeld, S. Ellard, F. Alkuraya, 2019, American journal of human genetics.

Efficient CRISPR/Cas9 genome editing with low off-target effects in zebrafish

Peter Krawitz, Verena Heinrich, Christian Haass, 2013, Development.

Genome sequencing in families with congenital limb malformations

D. Horn, S. Mundlos, M. Spielmann, 2021, Human Genetics.

Knowledge transfer to enhance the performance of deep learning models for automated classification of B cell neoplasms

T. Haferlach, Max Zhao, P. Krawitz, 2021, medRxiv.

CADA: phenotype-driven gene prioritization based on a case-enriched knowledge graph

H. Fröhlich, Alexej Knaus, N. Fleischer, 2021, medRxiv.

The GA4GH Phenopacket schema defines a computable representation of clinical data

Julius O. B. Jacobsen, Orion J. Buske, Michael A. Gargano, 2022, Nature Biotechnology.

Breast and prostate cancer risk: the interplay of polygenic risk, high-impact monogenic variants, and family history

M. Nöthen, P. May, P. Krawitz, 2021, medRxiv.

New technologies for intensive prevention programs after myocardial infarction: rationale and design of the NET-IPP trial

J. Erdmann, P. Krawitz, H. Wienbergen, 2020, Clinical Research in Cardiology.

A statistical boosting framework for polygenic risk scores based on large-scale genotype data

P. Krawitz, A. Mayr, Hannah Klinkhammer, 2023, Frontiers in Genetics.

Evidence of the milder phenotypic spectrum of c.1582G>A PIGT variant: Delineation based on seven novel Polish patients

P. Krawitz, Śmigiel Robert, Rydzanicz Małgorzata, 2020, Clinical genetics.

PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristics

A. Pagnamenta, D. Horn, J. Hurst, 2019, Genetics in Medicine.

Differential Localization and Identification of a Critical Aspartate Suggest Non-redundant Proteolytic Functions of the Presenilin Homologues SPPL2b and SPPL3*

P. Krawitz, C. Haass, R. Fluhrer, 2005, Journal of Biological Chemistry.

Improving Deep Facial Phenotyping for Ultra-rare Disorder Verification Using Model Ensembles

Tzung-Chien Hsieh, P. Krawitz, B. Javanmardi, 2022, 2023 IEEE/CVF Winter Conference on Applications of Computer Vision (WACV).

Deeplasia: prior-free deep learning for pediatric bone age assessment robust to skeletal dysplasias

Tzung-Chien Hsieh, P. Krawitz, K. Mohnike, 2023, medRxiv.

PEDIA: prioritization of exome data by image analysis

M. Nöthen, O. Bar, S. Köhler, 2018, Genetics in Medicine.

Drop of Prevalence after Population Expansion: A lower prevalence for recessive disorders in a random mating population is a transient phenomenon during and after a growth phase

J. Pantel, P. Krawitz, J. Frank, 2020, bioRxiv.

Factors in Color Fundus Photographs That Can Be Used by Humans to Determine Sex of Individuals

J. Pantel, P. Krawitz, Nikolas Pontikos, 2020, Translational vision science & technology.

Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome

P. Robinson, D. Horn, S. Mundlos, 2016, Human mutation.

Mutations in MYO1H cause a recessive form of central hypoventilation with autonomic dysfunction

S. Mundlos, M. Spielmann, P. Krawitz, 2017, Journal of Medical Genetics.

Few-Shot Meta Learning for Recognizing Facial Phenotypes of Genetic Disorders

Tzung-Chien Hsieh, P. Krawitz, Elisabeth Andr'e, 2022, MIE.

Identification of a Novel Missense Mutation in EDAR Causing Autosomal Recessive Hypohidrotic Ectodermal Dysplasia with Bilateral Amastia and Palmoplantar Hyperkeratosis

S. Mundlos, P. Krawitz, J. Hecht, 2013 .

Identification of a Novel Missense Mutation in EDAR Causing Autosomal Recessive Hypohidrotic Ectodermal Dysplasia with Bilateral Amastia and Palmoplantar Hyperkeratosis

S. Mundlos, P. Krawitz, N. Saleh-Gohari, 2012 .

AI-based multi-PRS models outperform classical single-PRS models

Andreas Mayr, P. Krawitz, A. Hillmer, 2023, Frontiers in Genetics.

Reduced cell surface levels of GPI‐linked markers in a new case with PIGG loss of function

L. Feuk, P. Georgii‐Hemming, Alexej Knaus, 2017, Human mutation.

Next-generation phenotyping contributing to the identification of a non-coding deletion in KANSL1 causing Koolen-de Vries syndrome

P. Krawitz, C. Perne, Fabian Brand, 2022 .

TBK1 and TNFRSF13B mutations and an autoinflammatory disease in a child with lethal COVID-19

Alexej Knaus, P. Krawitz, H. Engels, 2021, npj Genomic Medicine.

Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome

P. Robinson, D. Horn, S. Mundlos, 2014, European Journal of Human Genetics.

Loss-of-function variants in CUL3 cause a syndromic neurodevelopmental disorder

Jill A. Madden, J. Rosenfeld, J. R. Younce, 2023, medRxiv.

Whole‐exome sequencing identifies a novel missense mutation in EDAR causing autosomal recessive hypohidrotic ectodermal dysplasia with bilateral amastia and palmoplantar hyperkeratosis

S. Mundlos, P. Krawitz, J. Hecht, 2013, The British journal of dermatology.

New Mitochondrial Disease Identified In Monozygotic Twin Boys

V. Jobanputra, R. Happle, B. Gelb, 2023, American journal of medical genetics. Part A.

Crowdsourced direct-to-consumer genomic analysis of a family quartet

Fiona G. G. Nielsen, A. Harrison, P. Robinson, 2015, BMC Genomics.

Assessing the role of polygenic background on the penetrance of monogenic forms in Parkinson's disease.

P. May, P. Krawitz, D. Bobbili, 2021, medRxiv.

Estimating exome genotyping accuracy by comparing to data from large scale sequencing projects

T. Dickhaus, P. Robinson, D. Parkhomchuk, 2013 .

GestaltMatcher Database - a FAIR database for medical imaging data of rare disorders

M. Mücke, K. Devriendt, C. Nellåker, 2023, medRxiv.

Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis

Peter N. Robinson, N. Brown, S. Köhler, 2017, Genome Medicine.

Identification of a founder mutation in KRT14 associated with Naegeli–Franceschetti–Jadassohn syndrome

O. Sarig, G. Richard, E. Sprecher, 2020, The British journal of dermatology.

Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome

P. Robinson, D. Horn, S. Mundlos, 2015, European Journal of Human Genetics.

Strategies to improve the performance of rare variant association studies by optimizing the selection of controls

Peter N. Robinson, Tom Kamphans, Thorsten Dickhaus, 2015, Bioinform..

Identifying facial phenotypes of genetic disorders using deep learning

Yaron Gurovich, N. Fleischer, P. Krawitz, 2019, Nature Medicine.

Jannovar: A Java Library for Exome Annotation

D. Smedley, P. Robinson, Sebastian Bauer, 2014, Human mutation.

Molecular mechanism of CHRDL1-mediated X-linked megalocornea in humans and in Xenopus model.

B. Seliger, P. Krawitz, E. Klopocki, 2015, Human molecular genetics.

Broadening of cohesinopathies: exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange‐overlapping phenotype

D. Lazarević, P. Krawitz, E. Watrin, 2016, Clinical Genetics.

PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristics

A. Pagnamenta, D. Horn, J. Hurst, 2019, Genetics in Medicine.

BIOINFORMATICS Microindel detection in short-read sequence data

P. Robinson, Sebastian Bauer, C. Rödelsperger, 2010 .

PGAP2 mutations, affecting the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation syndrome.

P. Robinson, D. Horn, S. Mundlos, 2013, American journal of human genetics.