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Research |
Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia
- Alison M. Muir
- , Jennifer F. Gardner
- , Richard H. van Jaarsveld
- , Iris M. de Lange
- , Jasper J. van der Smagt
- , Golder N. Wilson
- , Holly Dubbs
- , Ethan M. Goldberg
- , Lia Zitano
- , Caleb Bupp
- , Jose Martinez
- , Myriam Srour
- , Andrea Accogli
- , Afnan Alhakeem
- , Meira Meltzer
- , Andrea Gropman
- , Carole Brewer
- , Richard C. Caswell
- , Tara Montgomery
- , Caoimhe McKenna
- , Shane McKee
- , Corinna Powell
- , Pradeep C. Vasudevan
- , Angela F. Brady
- , Shelagh Joss
- , Carolyn Tysoe
- , Grace Noh
- , Mark Tarnopolsky
- , Lauren Brady
- , Muhammad Zafar
- , Samantha A. Schrier Vergano
- , Brianna Murray
- , Lindsey Sawyer
- , Bryan E. Hainline
- , Katherine Sapp
- , Danielle DeMarzo
- , Darcy J. Huismann
- , Ingrid M. Wentzensen
- , Rhonda E. Schnur
- , Kristin G. Monaghan
- , Jane Juusola
- , Lindsay Rhodes
- , William B. Dobyns
- , Francois Lecoquierre
- , Alice Goldenberg
- , Tilman Polster
- , Susanne Axer-Schaefer
- , Konrad Platzer
- , Chiara Klöckner
- , Trevor L. Hoffman
- , Daniel G. MacArthur
- , Melanie C. O’Leary
- , Grace E. VanNoy
- , Eleina England
- , Vinod C. Varghese
- & Heather C. Mefford
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Research |
A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome
- Shereen G. Ghosh
- , Marcello Scala
- , Christian Beetz
- , Guy Helman
- , Valentina Stanley
- , Xiaoxu Yang
- , Martin W. Breuss
- , Neda Mazaheri
- , Laila Selim
- , Fatemeh Hadipour
- , Lynn Pais
- , Chloe A. Stutterd
- , Vasiliki Karageorgou
- , Amber Begtrup
- , Amy Crunk
- , Jane Juusola
- , Rebecca Willaert
- , Leigh A. Flore
- , Kelly Kennelly
- , Christopher Spencer
- , Martha Brown
- , Pamela Trapane
- , Anna C. E. Hurst
- , S. Lane Rutledge
- , Dana H. Goodloe
- , Marie T. McDonald
- , Vandana Shashi
- , Kelly Schoch
- , Hoda Tomoum
- , Raghda Zaitoun
- , Zahra Hadipour
- , Hamid Galehdari
- , Alistair T. Pagnamenta
- , Majid Mojarrad
- , Alireza Sedaghat
- , Patrícia Dias
- , Sofia Quintas
- , Atiyeh Eslahi
- , Gholamreza Shariati
- , Peter Bauer
- , Cas Simons
- , Henry Houlden
- , Mahmoud Y. Issa
- , Maha S. Zaki
- , Reza Maroofian
- & Joseph G. Gleeson
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Research |
Evidence for 28 genetic disorders discovered by combining healthcare and research data
- Joanna Kaplanis
- , Kaitlin E. Samocha
- , Laurens Wiel
- , Zhancheng Zhang
- , Kevin J. Arvai
- , Ruth Y. Eberhardt
- , Giuseppe Gallone
- , Stefan H. Lelieveld
- , Hilary C. Martin
- , Jeremy F. McRae
- , Patrick J. Short
- , Rebecca I. Torene
- , Elke de Boer
- , Petr Danecek
- , Eugene J. Gardner
- , Ni Huang
- , Jenny Lord
- , Iñigo Martincorena
- , Rolph Pfundt
- , Margot R. F. Reijnders
- , Alison Yeung
- , Helger G. Yntema
- , Silvia Borras
- , Caroline Clark
- , John Dean
- , Zosia Miedzybrodzka
- , Alison Ross
- , Stephen Tennant
- , Tabib Dabir
- , Deirdre Donnelly
- , Mervyn Humphreys
- , Alex Magee
- , Vivienne McConnell
- , Shane McKee
- , Susan McNerlan
- , Patrick J. Morrison
- , Gillian Rea
- , Fiona Stewart
- , Trevor Cole
- , Nicola Cooper
- , Lisa Cooper-Charles
- , Helen Cox
- , Lily Islam
- , Joanna Jarvis
- , Rebecca Keelagher
- , Derek Lim
- , Dominic McMullan
- , Jenny Morton
- , Swati Naik
- , Mary O’Driscoll
- , Kai-Ren Ong
- , Deborah Osio
- , Nicola Ragge
- , Sarah Turton
- , Julie Vogt
- , Denise Williams
- , Simon Bodek
- , Alan Donaldson
- , Alison Hills
- , Karen Low
- , Ruth Newbury-Ecob
- , Andrew M. Norman
- , Eileen Roberts
- , Ingrid Scurr
- , Sarah Smithson
- , Madeleine Tooley
- , Steve Abbs
- , Ruth Armstrong
- , Carolyn Dunn
- , Simon Holden
- , Soo-Mi Park
- , Joan Paterson
- , Lucy Raymond
- , Evan Reid
- , Richard Sandford
- , Ingrid Simonic
- , Marc Tischkowitz
- , Geoff Woods
- , Lisa Bradley
- , Joanne Comerford
- , Andrew Green
- , Sally Lynch
- , Shirley McQuaid
- , Brendan Mullaney
- , Jonathan Berg
- , David Goudie
- , Eleni Mavrak
- , Joanne McLean
- , Catherine McWilliam
- , Eleanor Reavey
- , Tara Azam
- , Elaine Cleary
- , Andrew Jackson
- , Wayne Lam
- , Anne Lampe
- , David Moore
- , Mary Porteous
- , Emma Baple
- , Júlia Baptista
- , Carole Brewer
- , Bruce Castle
- , Emma Kivuva
- , Martina Owens
- , Julia Rankin
- , Charles Shaw-Smith
- , Claire Turner
- , Peter Turnpenny
- , Carolyn Tysoe
- , Therese Bradley
- , Rosemarie Davidson
- , Carol Gardiner
- , Shelagh Joss
- , Esther Kinning
- , Cheryl Longman
- , Ruth McGowan
- , Victoria Murday
- , Daniela Pilz
- , Edward Tobias
- , Margo Whiteford
- , Nicola Williams
- , Angela Barnicoat
- , Emma Clement
- , Francesca Faravelli
- , Jane Hurst
- , Lucy Jenkins
- , Wendy Jones
- , V. K. Ajith Kumar
- , Melissa Lees
- , Sam Loughlin
- , Alison Male
- , Deborah Morrogh
- , Elisabeth Rosser
- , Richard Scott
- , Louise Wilson
- , Ana Beleza
- , Charu Deshpande
- , Frances Flinter
- , Muriel Holder
- , Melita Irving
- , Louise Izatt
- , Dragana Josifova
- , Shehla Mohammed
- , Aneta Molenda
- , Leema Robert
- , Wendy Roworth
- , Deborah Ruddy
- , Mina Ryten
- , Shu Yau
- , Christopher Bennett
- , Moira Blyth
- , Jennifer Campbell
- , Andrea Coates
- , Angus Dobbie
- , Sarah Hewitt
- , Emma Hobson
- , Eilidh Jackson
- , Rosalyn Jewell
- , Alison Kraus
- , Katrina Prescott
- , Eamonn Sheridan
- , Jenny Thomson
- , Kirsty Bradshaw
- , Abhijit Dixit
- , Jacqueline Eason
- , Rebecca Haines
- , Rachel Harrison
- , Stacey Mutch
- , Ajoy Sarkar
- , Claire Searle
- , Nora Shannon
- , Abid Sharif
- , Mohnish Suri
- , Pradeep Vasudevan
- , Natalie Canham
- , Ian Ellis
- , Lynn Greenhalgh
- , Emma Howard
- , Victoria Stinton
- , Andrew Swale
- , Astrid Weber
- , Siddharth Banka
- , Catherine Breen
- , Tracy Briggs
- , Emma Burkitt-Wright
- , Kate Chandler
- , Jill Clayton-Smith
- , Dian Donnai
- , Sofia Douzgou
- , Lorraine Gaunt
- , Elizabeth Jones
- , Bronwyn Kerr
- , Claire Langley
- , Kay Metcalfe
- , Audrey Smith
- , Ronnie Wright
- , David Bourn
- , John Burn
- , Richard Fisher
- , Steve Hellens
- , Alex Henderson
- , Tara Montgomery
- , Miranda Splitt
- , Volker Straub
- , Michael Wright
- , Simon Zwolinski
- , Zoe Allen
- , Birgitta Bernhard
- , Angela Brady
- , Claire Brooks
- , Louise Busby
- , Virginia Clowes
- , Neeti Ghali
- , Susan Holder
- , Rita Ibitoye
- , Emma Wakeling
- , Edward Blair
- , Jenny Carmichael
- , Deirdre Cilliers
- , Susan Clasper
- , Richard Gibbons
- , Usha Kini
- , Tracy Lester
- , Andrea Nemeth
- , Joanna Poulton
- , Sue Price
- , Debbie Shears
- , Helen Stewart
- , Andrew Wilkie
- , Shadi Albaba
- , Duncan Baker
- , Meena Balasubramanian
- , Diana Johnson
- , Michael Parker
- , Oliver Quarrell
- , Alison Stewart
- , Josh Willoughby
- , Charlene Crosby
- , Frances Elmslie
- , Tessa Homfray
- , Huilin Jin
- , Nayana Lahiri
- , Sahar Mansour
- , Karen Marks
- , Meriel McEntagart
- , Anand Saggar
- , Kate Tatton-Brown
- , Rachel Butler
- , Angus Clarke
- , Sian Corrin
- , Andrew Fry
- , Arveen Kamath
- , Emma McCann
- , Hood Mugalaasi
- , Caroline Pottinger
- , Annie Procter
- , Julian Sampson
- , Francis Sansbury
- , Vinod Varghese
- , Diana Baralle
- , Alison Callaway
- , Emma J. Cassidy
- , Stacey Daniels
- , Andrew Douglas
- , Nicola Foulds
- , David Hunt
- , Mira Kharbanda
- , Katherine Lachlan
- , Catherine Mercer
- , Lucy Side
- , I. Karen Temple
- , Diana Wellesley
- , Lisenka E. L. M. Vissers
- , Jane Juusola
- , Caroline F. Wright
- , Han G. Brunner
- , Helen V. Firth
- , David R. FitzPatrick
- , Jeffrey C. Barrett
- , Matthew E. Hurles
- , Christian Gilissen
- & Kyle Retterer
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Amendments and Corrections |
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Research | | Open
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Research |
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Research |
Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature
- Erin Torti
- , Boris Keren
- , Elizabeth E. Palmer
- , Zehua Zhu
- , Alexandra Afenjar
- , Ilse. J. Anderson
- , Marisa V. Andrews
- , Celia Atkinson
- , Margaret Au
- , Susan A. Berry
- , Kevin M. Bowling
- , Jackie Boyle
- , Julien Buratti
- , Sara S. Cathey
- , Perrine Charles
- , Benjamin Cogne
- , Thomas Courtin
- , Luis F. Escobar
- , Sabra Ledare Finley
- , John M. Graham Jr.
- , Dorothy K. Grange
- , Delphine Heron
- , Stacy Hewson
- , Susan M. Hiatt
- , Kathleen A. Hibbs
- , Parul Jayakar
- , Louisa Kalsner
- , Lise Larcher
- , Gaetan Lesca
- , Paul R. Mark
- , Kathryn Miller
- , Caroline Nava
- , Mathilde Nizon
- , G. Shashidhar Pai
- , John Pappas
- , Gretchen Parsons
- , Katelyn Payne
- , Audrey Putoux
- , Rachel Rabin
- , Isabelle Sabatier
- , Marwan Shinawi
- , Natasha Shur
- , Steven A. Skinner
- , Stephanie Valence
- , Hannah Warren
- , Sandra Whalen
- , Amy Crunk
- , Ganka Douglas
- , Kristin G. Monaghan
- , Richard E. Person
- , Rebecca Willaert
- , Benjamin D. Solomon
- & Jane Juusola
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Research |
Misattributed parentage as an unanticipated finding during exome/genome sequencing: current clinical laboratory practices and an opportunity for standardization
- Celeste Eno
- , Pinar Bayrak-Toydemir
- , Lora Bean
- , Alicia Braxton
- , Elizabeth C. Chao
- , Dima El-Khechen
- , Edward D. Esplin
- , Bethany Friedman
- , Kelly D. Farwell Hagman
- , Tina Hambuch
- , Amy Hernandez
- , Jane Juusola
- , Gina Londre
- , Jerry Machado
- , Rong Mao
- , Lindsey Mighion
- , Heidi L. Rehm
- , Patricia Ward
- & Joshua L. Deignan
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Amendments and Corrections |
Correction: Corrigendum: The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype–phenotype correlations
- Chun-An Chen
- , Daniëlle G M Bosch
- , Megan T Cho ScM
- , Jill A Rosenfeld
- , Marwan Shinawi
- , Richard Alan Lewis
- , John Mann
- , Parul Jayakar
- , Katelyn Payne
- , Laurence Walsh
- , Timothy Moss
- , Allison Schreiber
- , Cheri Schoonveld
- , Kristin G Monaghan
- , Frances Elmslie
- , Ganka Douglas
- , F Nienke Boonstra
- , Francisca Millan
- , Frans P M Cremers
- , Dianalee McKnight
- , Gabriele Richard
- , Jane Juusola
- , Fran Kendall
- , Keri Ramsey
- , Kwame Anyane-Yeboa
- , Elfrida Malkin
- , Wendy K Chung
- , Dmitriy Niyazov
- , Juan M Pascual
- , Magdalena Walkiewicz
- , Vivekanand Veluchamy
- , Chumei Li
- , Fuki M Hisama
- , Bert B A de Vries
- & Christian Schaaf
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The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families
- Michael D. Fountain
- , Emmelien Aten
- , Megan T. Cho
- , Jane Juusola
- , Magdalena A. Walkiewicz
- , Joseph W. Ray
- , Fan Xia
- , Yaping Yang
- , Brett H. Graham
- , Carlos A. Bacino
- , Lorraine Potocki
- , Arie van Haeringen
- , Claudia A.L. Ruivenkamp
- , Pedro Mancias
- , Hope Northrup
- , Mary K. Kukolich
- , Marjan M. Weiss
- , Conny M.A. van Ravenswaaij-Arts
- , Inge B. Mathijssen
- , Sebastien Levesque
- , Naomi Meeks
- , Jill A. Rosenfeld
- , Danielle Lemke
- , Ada Hamosh
- , Suzanne K. Lewis
- , Simone Race
- , Laura L. Stewart
- , Beverly Hay
- , Andrea M. Lewis
- , Rita L. Guerreiro
- , Jose T. Bras
- , Marcia P. Martins
- , Gerarda Derksen-Lubsen
- , Els Peeters
- , Connie Stumpel
- , Sander Stegmann
- , Levinus A. Bok
- , Gijs W.E. Santen
- & Christian P. Schaaf
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The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype–phenotype correlations
- Chun-An Chen
- , Daniëlle G. M. Bosch
- , Megan T. Cho
- , Jill A. Rosenfeld
- , Marwan Shinawi
- , Richard Alan Lewis
- , John Mann
- , Parul Jayakar
- , Katelyn Payne
- , Laurence Walsh
- , Timothy Moss
- , Allison Schreiber
- , Cheri Schoonveld
- , Kristin G. Monaghan
- , Frances Elmslie
- , Ganka Douglas
- , F. Nienke Boonstra
- , Francisca Millan
- , Frans P. M. Cremers
- , Dianalee McKnight
- , Gabriele Richard
- , Jane Juusola
- , Fran Kendall
- , Keri Ramsey
- , Kwame Anyane-Yeboa
- , Elfrida Malkin
- , Wendy K. Chung
- , Dmitriy Niyazov
- , Juan M. Pascual
- , Magdalena Walkiewicz
- , Vivekanand Veluchamy
- , Chumei Li
- , Fuki M. Hisama
- , Bert B. A. de Vries
- & Christian Schaaf
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Clinical application of whole-exome sequencing across clinical indications
- Kyle Retterer
- , Jane Juusola
- , Megan T. Cho
- , Patrik Vitazka
- , Francisca Millan
- , Federica Gibellini
- , Annette Vertino-Bell
- , Nizar Smaoui
- , Julie Neidich
- , Kristin G. Monaghan
- , Dianalee McKnight
- , Renkui Bai
- , Sharon Suchy
- , Bethany Friedman
- , Jackie Tahiliani
- , Daniel Pineda-Alvarez
- , Gabriele Richard
- , Tracy Brandt
- , Eden Haverfield
- , Wendy K. Chung
- & Sherri Bale
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Research |
De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature
- Sophie Nambot
- , Laurence Faivre
- , Ghayda Mirzaa
- , Julien Thevenon
- , Ange-Line Bruel
- , Anne-Laure Mosca-Boidron
- , Alice Masurel-Paulet
- , Alice Goldenberg
- , Nathalie Le Meur
- , Aude Charollais
- , Cyril Mignot
- , Florence Petit
- , Massimiliano Rossi
- , Julia Metreau
- , Valérie Layet
- , Daniel Amram
- , Odile Boute-Bénéjean
- , Elizabeth Bhoj
- , Margot A. Cousin
- , Teresa M. Kruisselbrink
- , Brendan C. Lanpher
- , Eric W. Klee
- , Elise Fiala
- , Dorothy K. Grange
- , Wendy S. Meschino
- , Susan M. Hiatt
- , Gregory M. Cooper
- , Hilde Olivié
- , Wendy E. Smith
- , Meghan Dumas
- , Anna Lehman
- , Shelin Adam
- , Christèle du Souich
- , Alison M. Elliott
- , Anna Lehman
- , Jill Mwenifumbo
- , Tanya N. Nelson
- , Clara van Karnebeek
- , Jan M. Friedman
- , Cara Inglese
- , Mathilde Nizon
- , Renzo Guerrini
- , Annalisa Vetro
- , Eitan S. Kaplan
- , Dolores Miramar
- , Julien Van Gils
- , Patricia Fergelot
- , Olaf Bodamer
- , Johanna C. Herkert
- , Sander Pajusalu
- , Katrin Õunap
- , James J. Filiano
- , Thomas Smol
- , Amélie Piton
- , Bénédicte Gérard
- , Sandra Chantot-Bastaraud
- , Thierry Bienvenu
- , Dong Li
- , Jane Juusola
- , Koen Devriendt
- , Frederic Bilan
- , Charlotte Poé
- , Martin Chevarin
- , Thibaud Jouan
- , Emilie Tisserant
- , Jean-Baptiste Rivière
- , Frédéric Tran Mau-Them
- , Christophe Philippe
- , Yannis Duffourd
- , William B. Dobyns
- , Robert Hevner
- & Christel Thauvin-Robinet
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Research |
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Research | | Open
Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders
- Hui Guo
- , Elisa Bettella
- , Paul C. Marcogliese
- , Rongjuan Zhao
- , Jonathan C. Andrews
- , Tomasz J. Nowakowski
- , Madelyn A. Gillentine
- , Kendra Hoekzema
- , Tianyun Wang
- , Huidan Wu
- , Sharayu Jangam
- , Cenying Liu
- , Hailun Ni
- , Marjolein H. Willemsen
- , Bregje W. van Bon
- , Tuula Rinne
- , Servi J. C. Stevens
- , Tjitske Kleefstra
- , Han G. Brunner
- , Helger G. Yntema
- , Min Long
- , Wenjing Zhao
- , Zhengmao Hu
- , Cindy Colson
- , Nicolas Richard
- , Charles E. Schwartz
- , Corrado Romano
- , Lucia Castiglia
- , Maria Bottitta
- , Shweta U. Dhar
- , Deanna J. Erwin
- , Lisa Emrick
- , Boris Keren
- , Alexandra Afenjar
- , Baosheng Zhu
- , Bing Bai
- , Pawel Stankiewicz
- , Kristin Herman
- , Deborah A. Nickerson
- , Michael J. Bamshad
- , Saadet Mercimek-Andrews
- , Jane Juusola
- , Amy B. Wilfert
- , Rami Abou Jamra
- , Benjamin Büttner
- , Heather C. Mefford
- , Alison M. Muir
- , Ingrid E. Scheffer
- , Brigid M. Regan
- , Stephen Malone
- , Jozef Gecz
- , Jan Cobben
- , Marjan M. Weiss
- , Quinten Waisfisz
- , Emilia K. Bijlsma
- , Mariëtte J. V. Hoffer
- , Claudia A. L. Ruivenkamp
- , Stefano Sartori
- , Fan Xia
- , Jill A. Rosenfeld
- , Raphael A. Bernier
- , Michael F. Wangler
- , Shinya Yamamoto
- , Kun Xia
- , Alexander P. A. Stegmann
- , Hugo J. Bellen
- , Alessandra Murgia
- & Evan E. Eichler
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Research | | Open
Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies
- Michael D. Fountain
- , David S. Oleson
- , Megan E. Rech
- , Lara Segebrecht
- , Jill V. Hunter
- , John M. McCarthy
- , Philip J. Lupo
- , Manuel Holtgrewe
- , Rocio Moran
- , Jill A. Rosenfeld
- , Bertrand Isidor
- , Cédric Le Caignec
- , Margarita S. Saenz
- , Robert C. Pedersen
- , Thomas M. Morgan
- , Jean P. Pfotenhauer
- , Fan Xia
- , Weimin Bi
- , Sung-Hae L. Kang
- , Ankita Patel
- , Ian D. Krantz
- , Sarah E. Raible
- , Wendy Smith
- , Ingrid Cristian
- , Erin Torti
- , Jane Juusola
- , Francisca Millan
- , Ingrid M. Wentzensen
- , Richard E. Person
- , Sébastien Küry
- , Stéphane Bézieau
- , Kévin Uguen
- , Claude Férec
- , Arnold Munnich
- , Mieke van Haelst
- , Klaske D. Lichtenbelt
- , Koen van Gassen
- , Tanner Hagelstrom
- , Aditi Chawla
- , Denise L. Perry
- , Ryan J. Taft
- , Marilyn Jones
- , Diane Masser-Frye
- , David Dyment
- , Sunita Venkateswaran
- , Chumei Li
- , Luis F. Escobar
- , Denise Horn
- , Rebecca C. Spillmann
- , Loren Peña
- , Jolanta Wierzba
- , Tim M. Strom
- , Ilaria Parenti
- , Frank J. Kaiser
- , Nadja Ehmke
- & Christian P. Schaaf
