Showing 1–21 of 21 results
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Amendments and Corrections |
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Amendments and Corrections |
Correction: KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants
- Joanna Kennedy
- , David Goudie
- , Edward Blair
- , Kate Chandler
- , Shelagh Joss
- , Victoria McKay
- , Andrew Green
- , Ruth Armstrong
- , Melissa Lees
- , Benjamin Kamien
- , Bruce Hopper
- , Tiong Yang Tan
- , Patrick Yap
- , Zornitza Stark
- , Nobuhiko Okamoto
- , Noriko Miyake
- , Naomichi Matsumoto
- , Ellen Macnamara
- , Jennifer L. Murphy
- , Elizabeth McCormick
- , Hakon Hakonarson
- , Marni J. Falk
- , Dong Li
- , Patrick Blackburn
- , Eric Klee
- , Dusica Babovic-Vuksanovic
- , Susan Schelley
- , Louanne Hudgins
- , Sarina Kant
- , Bertrand Isidor
- , Benjamin Cogne
- , Kimberley Bradbury
- , Mark Williams
- , Chirag Patel
- , Helen Heussler
- , Celia Duff-Farrier
- , Phillis Lakeman
- , Ingrid Scurr
- , Usha Kini
- , Mariet Elting
- , Margot Reijnders
- , Janneke Schuurs-Hoeijmakers
- , Mohamed Wafik
- , Anne Blomhoff
- , Claudia A. L. Ruivenkamp
- , Esther Nibbeling
- , Alexander J. M. Dingemans
- , Emilie D. Douine
- , Stanley F. Nelson
- , Maja Hempel
- , Tatjana Bierhals
- , Davor Lessel
- , Jessika Johannsen
- , Valerie A. Arboleda
- & Ruth Newbury-Ecob
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Amendments and Corrections |
Correction: DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract
- Alexandria T. M. Blackburn
- , Nasim Bekheirnia
- , Vanessa C. Uma
- , Mark E. Corkins
- , Yuxiao Xu
- , Jill A. Rosenfeld
- , Matthew N. Bainbridge
- , Yaping Yang
- , Pengfei Liu
- , Suneeta Madan-Khetarpal
- , Mauricio R. Delgado
- , Louanne Hudgins
- , Ian Krantz
- , David Rodriguez-Buritica
- , Patricia G. Wheeler
- , Lihadh Al-Gazali
- , Aisha Mohamed Saeed Mohamed Al Shamsi
- , Natalia Gomez-Ospina
- , Hsiao-Tuan Chao
- , Ghayda M. Mirzaa
- , Angela E. Scheuerle
- , Mary K. Kukolich
- , Fernando Scaglia
- , Christine Eng
- , Helen Rankin Willsey
- , Michael C. Braun
- , Dolores J. Lamb
- , Rachel K. Miller
- & Mir Reza Bekheirnia
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Research |
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Research |
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Research |
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Research |
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Reviews |
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Reviews |
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Research |
Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis
- Yaoqin Gong
- , Deborah Krakow
- , Jose Marcelino
- , Douglas Wilkin
- , David Chitayat
- , Riyana Babul-Hirji
- , Louanne Hudgins
- , Cor W. Cremers
- , Frans P.M. Cremers
- , Han G. Brunner
- , Kent Reinker
- , David L. Rimoin
- , Daniel H. Cohn
- , Frances R. Goodman
- , William Reardon
- , Michael Patton
- , Clair A. Francomano
- & Matthew L. Warman
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Research |
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Research |
DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract
- Alexandria T. M. Blackburn
- , Nasim Bekheirnia
- , Vanessa C. Uma
- , Mark E. Corkins
- , Yuxiao Xu
- , Jill A. Rosenfeld
- , Matthew N. Bainbridge
- , Yaping Yang
- , Pengfei Liu
- , Suneeta Madan-Khetarpal
- , Mauricio R. Delgado
- , Louanne Hudgins
- , Ian Krantz
- , David Rodriguez-Buritica
- , Patricia G. Wheeler
- , Lihadh Al-Gazali
- , Aisha Mohamed Saeed Mohamed Al Shamsi
- , Natalia Gomez-Ospina
- , Hsiao-Tuan Chao
- , Ghayda M. Mirzaa
- , Angela E. Scheuerle
- , Mary K. Kukolich
- , Fernando Scaglia
- , Christine Eng
- , Helen Rankin Willsey
- , Michael C. Braun
- , Dolores J. Lamb
- , Rachel K. Miller
- & Mir Reza Bekheirnia
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Research |
KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants
- Joanna Kennedy
- , David Goudie
- , Edward Blair
- , Kate Chandler
- , Shelagh Joss
- , Victoria McKay
- , Andrew Green
- , Ruth Armstrong
- , Melissa Lees
- , Benjamin Kamien
- , Bruce Hopper
- , Tiong Yang Tan
- , Patrick Yap
- , Zornitza Stark
- , Nobuhiko Okamoto
- , Noriko Miyake
- , Naomichi Matsumoto
- , Ellen Macnamara
- , Jennifer L. Murphy
- , Elizabeth McCormick
- , Hakon Hakonarson
- , Marni J. Falk
- , Dong Li
- , Patrick Blackburn
- , Eric Klee
- , Dusica Babovic-Vuksanovic
- , Susan Schelley
- , Louanne Hudgins
- , Sarina Kant
- , Bertrand Isidor
- , Benjamin Cogne
- , Kimberley Bradbury
- , Mark Williams
- , Chirag Patel
- , Helen Heussler
- , Celia Duff-Farrier
- , Phillis Lakeman
- , Ingrid Scurr
- , Usha Kini
- , Mariet Elting
- , Margot Reijnders
- , Janneke Schuurs-Hoeijmakers
- , Mohamed Wafik
- , Anne Blomhoff
- , Claudia A. L. Ruivenkamp
- , Esther Nibbeling
- , Alexander J. M. Dingemans
- , Emilie D. Douine
- , Stanley F. Nelson
- , Maja Hempel
- , Tatjana Bierhals
- , Davor Lessel
- , Jessika Johannsen
- , Valerie A. Arboleda
- & Ruth Newbury-Ecob
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Research |
Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies
- Bo Yuan
- , Juanita Neira
- , Davut Pehlivan
- , Teresa Santiago-Sim
- , Xiaofei Song
- , Jill Rosenfeld
- , Jennifer E. Posey
- , Vipulkumar Patel
- , Weihong Jin
- , Margaret P. Adam
- , Emma L. Baple
- , John Dean
- , Chin-To Fong
- , Scott E. Hickey
- , Louanne Hudgins
- , Eyby Leon
- , Suneeta Madan-Khetarpal
- , Lettie Rawlins
- , Cecilie F. Rustad
- , Asbjørg Stray-Pedersen
- , Kristian Tveten
- , Olivia Wenger
- , Jullianne Diaz
- , Laura Jenkins
- , Laura Martin
- , Marianne McGuire
- , Marguerite Pietryga
- , Linda Ramsdell
- , Leah Slattery
- , Farida Abid
- , Alison A. Bertuch
- , Dorothy Grange
- , LaDonna Immken
- , Christian P. Schaaf
- , Hilde Van Esch
- , Weimin Bi
- , Sau Wai Cheung
- , Amy M. Breman
- , Janice L. Smith
- , Chad Shaw
- , Andrew H. Crosby
- , Christine Eng
- , Yaping Yang
- , James R. Lupski
- , Rui Xiao
- & Pengfei Liu
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Research |
Developing a conceptual, reproducible, rubric-based approach to consent and result disclosure for genetic testing by clinicians with minimal genetics background
- Kelly E. Ormond
- , Miranda L. G. Hallquist
- , Adam H. Buchanan
- , Danielle Dondanville
- , Mildred K. Cho
- , Maureen Smith
- , Myra Roche
- , Kyle B. Brothers
- , Curtis R. Coughlin II
- , Laura Hercher
- , Louanne Hudgins
- , Seema Jamal
- , Howard P. Levy
- , Misha Raskin
- , Melissa Stosic
- , Wendy Uhlmann
- , Karen E. Wain
- , Erin Currey
- & W. Andrew Faucett
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Recommendations for the integration of genomics into clinical practice
- Sarah Bowdin
- , Adel Gilbert
- , Emma Bedoukian
- , Christopher Carew
- , Margaret P. Adam
- , John Belmont
- , Barbara Bernhardt
- , Leslie Biesecker
- , Hans T. Bjornsson
- , Miriam Blitzer
- , Lisa C.A. D’Alessandro
- , Matthew A. Deardorff
- , Laurie Demmer
- , Alison Elliott
- , Gerald L. Feldman
- , Ian A. Glass
- , Gail Herman
- , Lucia Hindorff
- , Fuki Hisama
- , Louanne Hudgins
- , A. Micheil Innes
- , Laird Jackson
- , Gail Jarvik
- , Raymond Kim
- , Bruce Korf
- , David H. Ledbetter
- , Mindy Li
- , Eriskay Liston
- , Christian Marshall
- , Livija Medne
- , M. Stephen Meyn
- , Nasim Monfared
- , Cynthia Morton
- , John J. Mulvihill
- , Sharon E. Plon
- , Heidi Rehm
- , Amy Roberts
- , Cheryl Shuman
- , Nancy B. Spinner
- , D. James Stavropoulos
- , Kathleen Valverde
- , Darrel J. Waggoner
- , Alisha Wilkens
- , Ronald D. Cohn
- & Ian D. Krantz
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Research |
DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies
- Jianling Ji
- , Hane Lee
- , Bob Argiropoulos
- , Naghmeh Dorrani
- , John Mann
- , Julian A Martinez-Agosto
- , Natalia Gomez-Ospina
- , Natalie Gallant
- , Jonathan A Bernstein
- , Louanne Hudgins
- , Leah Slattery
- , Bertrand Isidor
- , Cédric Le Caignec
- , Albert David
- , Ewa Obersztyn
- , Barbara Wiśniowiecka-Kowalnik
- , Michelle Fox
- , Joshua L Deignan
- , Eric Vilain
- , Emily Hendricks
- , Margaret Horton Harr
- , Sarah E Noon
- , Jessi R Jackson
- , Alisha Wilkens
- , Ghayda Mirzaa
- , Noriko Salamon
- , Jeff Abramson
- , Elaine H Zackai
- , Ian Krantz
- , A Micheil Innes
- , Stanley F Nelson
- , Wayne W Grody
- & Fabiola Quintero-Rivera
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Research |
