Peter Lauffer

Affiliations

Department of Paediatrics, Tergooi Hospital, Blaricum, The Netherlands, p.lauffer@amc.uva.nl.

Publications (21)

Towards a Rational and Efficient Diagnostic Approach in Children Referred for Tall Stature and/or Accelerated Growth to the General Paediatrician.

Hormone research in paediatrics

Avec: Peter Lauffer , Gerdine A Kamp , Leonie A Menke , Jan M Wit , Wilma Oostdijk , Auteur inconnu

SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling.

American journal of human genetics

Avec: Yuh-Charn Lin , Marcello Niceta , Valentina Muto , Barbara Vona , Alistair T Pagnamenta , Reza Maroofian , Christian Beetz , Hermine van Duyvenvoorde , Maria Lisa Dentici , Peter Lauffer , Sadeq Vallian , Andrea Ciolfi , Simone Pizzi , Peter Bauer , Nana-Maria Grüning , Emanuele Bellacchio , Andrea Del Fattore , Stefania Petrini , Ranad Shaheen , Dov Tiosano , Rana Halloun , Ben Pode-Shakked , Hatice Mutlu Albayrak , Emregül Işık , Jan M Wit , Marcus Dittrich , Bruna L Freire , Debora R Bertola , Alexander A L Jorge , Ortal Barel , Ataf H Sabir , Amal M J Al Tenaiji , Sulaima M Taji , Nouriya Al-Sannaa , Hind Al-Abdulwahed , Maria Cristina Digilio , Melita Irving , Yair Anikster , Gandham S L Bhavani , Katta M Girisha , Auteur inconnu , Thomas Haaf , Jenny C Taylor , Bruno Dallapiccola , Fowzan S Alkuraya , Ruey-Bing Yang , Marco Tartaglia

DNA methylation episignature, extension of the clinical features and comparative epigenomic profiling of Hao-Fountain syndrome caused by variants in USP7.

Genetics in medicine : official journal of the American College of Medical Genetics

Avec: Liselot van der Laan , Karim Karimi , Kathleen Rooney , Peter Lauffer , Haley McConkey , Pilar Caro , Raissa Relator , Michael A Levy , Pratibha Bhai , Cyril Mignot , Boris Keren , Silvana Briuglia , Andrew K Sobering , Dong Li , Lisenka E L M Vissers , Alexander J M Dingemans , Irene Valenzuela , Eline A Verberne , Mala Misra-Isrie , Petra J G Zwijnenburg , Quinten Waisfisz , Mariëlle Alders , Sebastian Sailer , Christian P Schaaf , Marcel M A M Mannens , Bekim Sadikovic , Mieke M van Haelst , Peter Henneman

Mild Isolated Congenital Central Hypothyroidism Due to a Novel Homozygous Variant in

Thyroid : official journal of the American Thyroid Association

Avec: Peter Lauffer , Hennie Bikker , Anita Boelen , Jasper J Jöbsis , A S Paul van Trotsenburg , Nitash Zwaveling-Soonawala

An Activating Deletion Variant in the Submembrane Region of Natriuretic Peptide Receptor-B Causes Tall Stature.

The Journal of clinical endocrinology and metabolism

Avec: Peter Lauffer , Erick Miranda-Laferte , Hermine A van Duyvenvoorde , Arie van Haeringen , Franziska Werner , Eveline Boudin , Hannes Schmidt , Thomas D Mueller , Michaela Kuhn , Daniëlle C M van der Kaay

Low free thyroxine and normal thyroid-stimulating hormone in infants and children: possible causes and diagnostic work-up.

European journal of pediatrics

Avec: Peter Lauffer , A S Paul van Trotsenburg , Nitash Zwaveling-Soonawala

DNA methylation episignature and comparative epigenomic profiling of HNRNPU-related neurodevelopmental disorder.

Genetics in medicine : official journal of the American College of Medical Genetics

Avec: Kathleen Rooney , Liselot van der Laan , Slavica Trajkova , Sadegheh Haghshenas , Raissa Relator , Peter Lauffer , Niels Vos , Michael A Levy , Nicola Brunetti-Pierri , Gaetano Terrone , Cyril Mignot , Boris Keren , Thierry B de Villemeur , Catharina M L Volker-Touw , Nienke Verbeek , Jasper J van der Smagt , Renske Oegema , Alfredo Brusco , Giovanni B Ferrero , Mala Misra-Isrie , Ron Hochstenbach , Mariëlle Alders , Marcel M A M Mannens , Bekim Sadikovic , Mieke M van Haelst , Peter Henneman

Expression Quantitative Trait Methylation Analysis Identifies Whole Blood Molecular Footprint in Fetal Alcohol Spectrum Disorder (FASD).

International journal of molecular sciences

Avec: Izabela M Krzyzewska , Peter Lauffer , Adri N Mul , Liselot van der Laan , Andrew Y F Li Yim , Jan Maarten Cobben , Jacek Niklinski , Monika A Chomczyk , Robert Smigiel , Marcel M A M Mannens , Peter Henneman

Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles.

HGG advances

Avec: Sadegheh Haghshenas , Hidde J Bout , Josephine M Schijns , Michael A Levy , Jennifer Kerkhof , Pratibha Bhai , Haley McConkey , Zandra A Jenkins , Ella M Williams , Benjamin J Halliday , Sylvia A Huisman , Peter Lauffer , Vivian de Waard , Laura Witteveen , Siddharth Banka , Angela F Brady , Elena Galazzi , Julien van Gils , Anna C E Hurst , Frank J Kaiser , Didier Lacombe , Antonio F Martinez-Monseny , Patricia Fergelot , Fabíola P Monteiro , Ilaria Parenti , Luca Persani , Fernando Santos Simarro , Brittany N Simpson , Auteur inconnu , Mariëlle Alders , Stephen P Robertson , Bekim Sadikovic , Leonie A Menke

Epidermal inclusion cyst of the thyroid: a rare case of a nodule-like structure at ultrasound.

BJR case reports

Avec: Peter Lauffer , Joost van Schuppen , Christiaan F Mooij

Broadening the Spectrum of Loss-of-Function Variants in NPR-C-Related Extreme Tall Stature.

Journal of the Endocrine Society

Avec: Peter Lauffer , Eveline Boudin , Daniëlle C M van der Kaay , Saskia Koene , Arie van Haeringen , Vera van Tellingen , Wim Van Hul , Timothy C R Prickett , Geert Mortier , Eric A Espiner , Hermine A van Duyvenvoorde

An animal model for Pierpont syndrome: a mouse bearing the Tbl1xr1Y446C/Y446C mutation.

Human molecular genetics

Avec: Yalan Hu , Peter Lauffer , Michelle Stewart , Gemma Codner , Steffen Mayerl , Heike Heuer , Lily Ng , Douglas Forrest , Paul van Trotsenburg , Aldo Jongejan , Eric Fliers , Raoul Hennekam , Anita Boelen

Growth charts for Marfan syndrome in the Netherlands and analysis of genotype-phenotype relationships.

American journal of medical genetics. Part A

Avec: Peter Lauffer , Gerard Pals , Aeilko H Zwinderman , Floor A M Postema , Marieke J H Baars , Eelco Dulfer , Yvonne Hilhorst-Hofstee , Arjan C Houweling , Marlies Kempers , Ingrid P C Krapels , Ingrid M B H van de Laar , Bart Loeys , Alexander M J Spaans , Jessica Warnink-Kavelaars , Vivian de Waard , Jan M Wit , Leonie A Menke

DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variants.

HGG advances

Avec: Liselot van der Laan , Peter Lauffer , Kathleen Rooney , Ananília Silva , Sadegheh Haghshenas , Raissa Relator , Michael A Levy , Slavica Trajkova , Sylvia A Huisman , Emilia K Bijlsma , Tjitske Kleefstra , Bregje W van Bon , Özlem Baysal , Christiane Zweier , María Palomares-Bralo , Jan Fischer , Katalin Szakszon , Laurence Faivre , Amélie Piton , Simone Mesman , Ron Hochstenbach , Mariet W Elting , Johanna M van Hagen , Astrid S Plomp , Marcel M A M Mannens , Mariëlle Alders , Mieke M van Haelst , Giovanni B Ferrero , Alfredo Brusco , Peter Henneman , David A Sweetser , Bekim Sadikovic , Antonio Vitobello , Leonie A Menke

[The diagnostic evaluation of tall stature in children].

Nederlands tijdschrift voor geneeskunde

Avec: Peter Lauffer , Jan Maarten Wit , Wilma Oostdijk , Christiaan F Mooij , Noud A J Drewes , Gerdine A Kamp

Diagnosis and Management of Central Congenital Hypothyroidism.

Frontiers in endocrinology

Avec: Peter Lauffer , Nitash Zwaveling-Soonawala , Jolanda C Naafs , Anita Boelen , A S Paul van Trotsenburg

Episignature Mapping of

International journal of molecular sciences

Avec: Liselot van der Laan , Kathleen Rooney , Mariëlle Alders , Raissa Relator , Haley McConkey , Jennifer Kerkhof , Michael A Levy , Peter Lauffer , Mio Aerden , Miel Theunis , Eric Legius , Matthew L Tedder , Lisenka E L M Vissers , Saskia Koene , Claudia Ruivenkamp , Mariette J V Hoffer , Dagmar Wieczorek , Nuria C Bramswig , Theresia Herget , Vanesa López González , Fernando Santos-Simarro , Pernille M Tørring , Anne-Sophie Denomme-Pichon , Bertrand Isidor , Boris Keren , Sophie Julia , Elise Schaefer , Christine Francannet , Pierre-Yves Maillard , Mala Misra-Isrie , Hilde Van Esch , Marcel M A M Mannens , Bekim Sadikovic , Mieke M van Haelst , Peter Henneman

Identification of a Novel

Journal of clinical research in pediatric endocrinology

Avec: Mark R Garrelfs , Tuula Rinne , Jacquelien J Hillebrand , Peter Lauffer , Merijn W Bijlsma , Hedi L Claahsen-van der Grinten , Nicole de Leeuw , Martijn J J Finken , Joost Rotteveel , Nitash Zwaveling-Soonawala , Max Nieuwdorp , A S Paul van Trotsenburg , Christiaan F Mooij

Peripheral blood DNA methylation signatures and response to tofacitinib in moderate-to-severe ulcerative colitis.

Journal of Crohn's & colitis

Avec: Vincent Joustra , Andrew Y F Li Yim , Sara van Gennep , Ishtu Hageman , T de Waard , Evgeni Levin , Peter Lauffer , Wouter J de Jonge , Peter Henneman , Mark Löwenberg , Geert R D'Haens

GNB1 and obesity: Evidence for a correlation between haploinsufficiency and syndromic obesity.

Clinical obesity

Avec: Lotte Kleinendorst , Ozair Abawi , Niels Vos , Eline S van der Valk , Saskia M Maas , Angela T Morgan , Michael S Hildebrand , Jorge D Da Silva , Ralph J Florijn , Peter Lauffer , Jenny A Visser , Elisabeth F C van Rossum , Erica L T van den Akker , Mieke M van Haelst

Analysis of genes differentially expressed in the cortex of mice with the Tbl1xr1

Gene

Avec: Yalan Hu , Peter Lauffer , Aldo Jongejan , Kim Falize , Eveline Bruinstroop , Paul van Trotsenburg , Eric Fliers , Raoul C Hennekam , Anita Boelen

Réseau de co-auteurs

Peter Henneman 6 collaborations

Liselot van der Laan 5 collaborations

Michael A Levy 5 collaborations

Mariëlle Alders 5 collaborations

Marcel M A M Mannens 5 collaborations

Bekim Sadikovic 5 collaborations

Mieke M van Haelst 5 collaborations

Leonie A Menke 4 collaborations

Kathleen Rooney 4 collaborations

Raissa Relator 4 collaborations

Anita Boelen 4 collaborations

A S Paul van Trotsenburg 4 collaborations

Nitash Zwaveling-Soonawala 4 collaborations

Jan M Wit 3 collaborations

None None 3 collaborations

Haley McConkey 3 collaborations

Boris Keren 3 collaborations

Mala Misra-Isrie 3 collaborations

Sadegheh Haghshenas 3 collaborations

Christiaan F Mooij 3 collaborations

Gerdine A Kamp 2 collaborations

Wilma Oostdijk 2 collaborations

Pratibha Bhai 2 collaborations

Cyril Mignot 2 collaborations

Lisenka E L M Vissers 2 collaborations

Hermine A van Duyvenvoorde 2 collaborations

Arie van Haeringen 2 collaborations

Eveline Boudin 2 collaborations

Daniëlle C M van der Kaay 2 collaborations

Slavica Trajkova 2 collaborations

Niels Vos 2 collaborations

Alfredo Brusco 2 collaborations

Giovanni B Ferrero 2 collaborations

Ron Hochstenbach 2 collaborations

Andrew Y F Li Yim 2 collaborations

Jennifer Kerkhof 2 collaborations

Sylvia A Huisman 2 collaborations

Vivian de Waard 2 collaborations

Saskia Koene 2 collaborations

Yalan Hu 2 collaborations

Paul van Trotsenburg 2 collaborations

Aldo Jongejan 2 collaborations

Eric Fliers 2 collaborations

Yuh-Charn Lin 1 collaboration

Marcello Niceta 1 collaboration

Valentina Muto 1 collaboration

Barbara Vona 1 collaboration

Alistair T Pagnamenta 1 collaboration

Reza Maroofian 1 collaboration

Christian Beetz 1 collaboration

Hermine van Duyvenvoorde 1 collaboration

Maria Lisa Dentici 1 collaboration

Sadeq Vallian 1 collaboration

Andrea Ciolfi 1 collaboration

Simone Pizzi 1 collaboration

Peter Bauer 1 collaboration

Nana-Maria Grüning 1 collaboration

Emanuele Bellacchio 1 collaboration

Andrea Del Fattore 1 collaboration

Stefania Petrini 1 collaboration

Ranad Shaheen 1 collaboration

Dov Tiosano 1 collaboration

Rana Halloun 1 collaboration

Ben Pode-Shakked 1 collaboration

Hatice Mutlu Albayrak 1 collaboration

Emregül Işık 1 collaboration

Marcus Dittrich 1 collaboration

Bruna L Freire 1 collaboration

Debora R Bertola 1 collaboration

Alexander A L Jorge 1 collaboration

Ortal Barel 1 collaboration

Ataf H Sabir 1 collaboration

Amal M J Al Tenaiji 1 collaboration

Sulaima M Taji 1 collaboration

Nouriya Al-Sannaa 1 collaboration

Hind Al-Abdulwahed 1 collaboration

Maria Cristina Digilio 1 collaboration

Melita Irving 1 collaboration

Yair Anikster 1 collaboration

Gandham S L Bhavani 1 collaboration

Katta M Girisha 1 collaboration

Thomas Haaf 1 collaboration

Jenny C Taylor 1 collaboration

Bruno Dallapiccola 1 collaboration

Fowzan S Alkuraya 1 collaboration

Ruey-Bing Yang 1 collaboration

Marco Tartaglia 1 collaboration

Karim Karimi 1 collaboration

Pilar Caro 1 collaboration

Silvana Briuglia 1 collaboration

Andrew K Sobering 1 collaboration

Dong Li 1 collaboration

Alexander J M Dingemans 1 collaboration

Irene Valenzuela 1 collaboration

Eline A Verberne 1 collaboration

Petra J G Zwijnenburg 1 collaboration

Quinten Waisfisz 1 collaboration

Sebastian Sailer 1 collaboration

Christian P Schaaf 1 collaboration

Hennie Bikker 1 collaboration

Jasper J Jöbsis 1 collaboration

Erick Miranda-Laferte 1 collaboration

Franziska Werner 1 collaboration

Hannes Schmidt 1 collaboration

Thomas D Mueller 1 collaboration

Michaela Kuhn 1 collaboration

Nicola Brunetti-Pierri 1 collaboration

Gaetano Terrone 1 collaboration

Thierry B de Villemeur 1 collaboration

Catharina M L Volker-Touw 1 collaboration

Nienke Verbeek 1 collaboration

Jasper J van der Smagt 1 collaboration

Renske Oegema 1 collaboration

Izabela M Krzyzewska 1 collaboration

Adri N Mul 1 collaboration

Jan Maarten Cobben 1 collaboration

Jacek Niklinski 1 collaboration

Monika A Chomczyk 1 collaboration

Robert Smigiel 1 collaboration

Hidde J Bout 1 collaboration

Josephine M Schijns 1 collaboration

Zandra A Jenkins 1 collaboration

Ella M Williams 1 collaboration

Benjamin J Halliday 1 collaboration

Laura Witteveen 1 collaboration

Siddharth Banka 1 collaboration

Angela F Brady 1 collaboration

Elena Galazzi 1 collaboration

Julien van Gils 1 collaboration

Anna C E Hurst 1 collaboration

Frank J Kaiser 1 collaboration

Didier Lacombe 1 collaboration

Antonio F Martinez-Monseny 1 collaboration

Patricia Fergelot 1 collaboration

Fabíola P Monteiro 1 collaboration

Ilaria Parenti 1 collaboration

Luca Persani 1 collaboration

Fernando Santos Simarro 1 collaboration

Brittany N Simpson 1 collaboration

Stephen P Robertson 1 collaboration

Joost van Schuppen 1 collaboration

Vera van Tellingen 1 collaboration

Wim Van Hul 1 collaboration

Timothy C R Prickett 1 collaboration

Geert Mortier 1 collaboration

Eric A Espiner 1 collaboration

Michelle Stewart 1 collaboration

Gemma Codner 1 collaboration

Steffen Mayerl 1 collaboration

Heike Heuer 1 collaboration

Lily Ng 1 collaboration

Douglas Forrest 1 collaboration

Raoul Hennekam 1 collaboration

Gerard Pals 1 collaboration

Aeilko H Zwinderman 1 collaboration

Floor A M Postema 1 collaboration

Marieke J H Baars 1 collaboration

Eelco Dulfer 1 collaboration

Yvonne Hilhorst-Hofstee 1 collaboration

Arjan C Houweling 1 collaboration

Marlies Kempers 1 collaboration

Ingrid P C Krapels 1 collaboration

Ingrid M B H van de Laar 1 collaboration

Bart Loeys 1 collaboration

Alexander M J Spaans 1 collaboration

Jessica Warnink-Kavelaars 1 collaboration

Ananília Silva 1 collaboration

Emilia K Bijlsma 1 collaboration

Tjitske Kleefstra 1 collaboration

Bregje W van Bon 1 collaboration

Özlem Baysal 1 collaboration

Christiane Zweier 1 collaboration

María Palomares-Bralo 1 collaboration

Jan Fischer 1 collaboration

Katalin Szakszon 1 collaboration

Laurence Faivre 1 collaboration

Amélie Piton 1 collaboration

Simone Mesman 1 collaboration

Mariet W Elting 1 collaboration

Johanna M van Hagen 1 collaboration

Astrid S Plomp 1 collaboration

David A Sweetser 1 collaboration

Antonio Vitobello 1 collaboration

Jan Maarten Wit 1 collaboration

Noud A J Drewes 1 collaboration

Jolanda C Naafs 1 collaboration

Mio Aerden 1 collaboration

Miel Theunis 1 collaboration

Eric Legius 1 collaboration

Matthew L Tedder 1 collaboration

Claudia Ruivenkamp 1 collaboration

Mariette J V Hoffer 1 collaboration

Dagmar Wieczorek 1 collaboration

Nuria C Bramswig 1 collaboration

Theresia Herget 1 collaboration

Vanesa López González 1 collaboration

Fernando Santos-Simarro 1 collaboration

Pernille M Tørring 1 collaboration

Anne-Sophie Denomme-Pichon 1 collaboration

Bertrand Isidor 1 collaboration

Sophie Julia 1 collaboration

Elise Schaefer 1 collaboration

Christine Francannet 1 collaboration

Pierre-Yves Maillard 1 collaboration

Hilde Van Esch 1 collaboration

Mark R Garrelfs 1 collaboration

Tuula Rinne 1 collaboration

Jacquelien J Hillebrand 1 collaboration

Merijn W Bijlsma 1 collaboration

Hedi L Claahsen-van der Grinten 1 collaboration

Nicole de Leeuw 1 collaboration

Martijn J J Finken 1 collaboration

Joost Rotteveel 1 collaboration

Max Nieuwdorp 1 collaboration

Vincent Joustra 1 collaboration

Sara van Gennep 1 collaboration

Ishtu Hageman 1 collaboration

T de Waard 1 collaboration

Evgeni Levin 1 collaboration

Wouter J de Jonge 1 collaboration

Mark Löwenberg 1 collaboration

Geert R D'Haens 1 collaboration

Lotte Kleinendorst 1 collaboration

Ozair Abawi 1 collaboration

Eline S van der Valk 1 collaboration

Saskia M Maas 1 collaboration

Angela T Morgan 1 collaboration

Michael S Hildebrand 1 collaboration

Jorge D Da Silva 1 collaboration

Ralph J Florijn 1 collaboration

Jenny A Visser 1 collaboration

Elisabeth F C van Rossum 1 collaboration

Erica L T van den Akker 1 collaboration

Kim Falize 1 collaboration

Eveline Bruinstroop 1 collaboration

Raoul C Hennekam 1 collaboration