L. Schimmenti
发表
W. Dobyns,
M. Eccles,
M. Pierpont,
1995,
Nature Genetics.
W. Grody,
C. Palmer,
L. Schimmenti,
2008,
Journal of Genetic Counseling.
Andrew R. Grant,
Marina T. DiStefano,
H. Rehm,
2019,
bioRxiv.
Andrew M. Petzold,
Andrew M Petzold,
S. Ekker,
2009,
Zebrafish.
G. Raca,
T. Bardakjian,
L. Schimmenti,
2011,
Genetics in Medicine.
Alex Chapin,
Margaret Kenna,
Heidi L Rehm,
2018,
bioRxiv.
H. Brunner,
S. Ekker,
H. van Bokhoven,
2009,
Developmental dynamics : an official publication of the American Association of Anatomists.
S. Ellard,
K. Muthusamy,
R. Møller,
2022,
medRxiv.
David P. Argue,
S. Ekker,
L. Schimmenti,
2020,
American journal of audiology.
B. Hirsch,
L. Schimmenti,
S. Berry,
1994,
American journal of medical genetics.
G. Valle,
J. Towbin,
A. di Lenarda,
2003,
Journal of the American College of Cardiology.
W. Dobyns,
M. Pierpont,
L. Schimmenti,
1995,
American journal of medical genetics.
N. Leslie,
R. Hopkin,
P. Rinaldo,
2015,
Genetics in Medicine.
D. Saltzman,
B. Hirsch,
D. Hess,
2018,
Molecular Syndromology.
H. Rehm,
H. Kremer,
K. Avraham,
2018,
bioRxiv.
M. Eccles,
L. Schimmenti,
1999,
Clinical genetics.
Ellen F. Macnamara,
Undiagnosed Diseases Network,
C. Tifft,
2022,
Molecular genetics and metabolism.
J. Ross,
M. Schleiss,
A. Jurek,
2011,
Genetics in Medicine.
W. Grody,
C. Palmer,
B. Crandall,
2008,
Genetics in Medicine.
W. Grody,
C. Palmer,
B. Crandall,
2004,
Genetics in Medicine.
L. Schimmenti,
2017,
Zebrafish.
J. Moller,
M. Finkelstein,
L. Schimmenti,
2006,
Pediatrics.
J. Smadbeck,
M. Carlson,
G. Vasmatzis,
2018,
Journal of Neurological Surgery Part B: Skull Base.
S. Selleck,
Å. Borg,
D. Avramopoulos,
2007,
American journal of human genetics.
D. Balciunas,
S. Ekker,
V. Korzh,
2008,
PloS one.
S. Cederbaum,
N. Longo,
M. Pasquali,
2007,
Molecular genetics and metabolism.
P. Mayeux,
L. Schimmenti,
J. Winkelmann,
1995,
Blood.
L. Schimmenti,
2011,
European Journal of Human Genetics.
Stephanie J. Youssef,
L. Schimmenti,
D. Price,
2020,
The Annals of otology, rhinology, and laryngology.
W. Grody,
C. Palmer,
T. Blase,
2007,
Journal of Genetic Counseling.
T. Young,
T. Bardakjian,
L. Schimmenti,
2008,
Molecular Vision.
Donna M. Martin,
J. Belmont,
S. Camper,
2002,
American journal of medical genetics.
L. Schimmenti,
2016,
Zebrafish.
Mark D. Urban,
S. Sivasubbu,
D. Balciunas,
2020,
eLife.
Mark D. Urban,
S. Sivasubbu,
D. Balciunas,
2019,
bioRxiv.
L. Schimmenti,
Alaa Koleilat,
Shawna A. Cooper,
2022,
bioRxiv.
W. Huskins,
L. Schimmenti,
S. Cofer,
2021
.
L. Schimmenti,
Marc Tye,
E. A. Duffy,
2014,
Zebrafish.
R. Lewis,
M. Muenke,
L. Schimmenti,
2003,
American journal of medical genetics. Part A.
L. Schimmenti,
Logan Spector,
Rheanne Zimmerman,
2015,
Pediatric blood & cancer.
C. Palmer,
L. Schimmenti,
Ariadna Martínez,
2003
.
J. Bernstein,
J. Abdenur,
P. Rinaldo,
2010,
The Journal of pediatrics.
E. I. Pierpont,
W. Dobyns,
A. Lin,
2020,
American journal of medical genetics. Part A.
David P. Argue,
S. Ekker,
L. Schimmenti,
2020
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W. Grody,
C. Palmer,
L. Schimmenti,
2005,
Archives of otolaryngology--head & neck surgery.
M. Brodsky,
H. Kearney,
L. Schimmenti,
2022,
American journal of ophthalmology case reports.
Kirsten R Coverstone,
M. Schleiss,
L. Schimmenti,
2017,
American journal of otolaryngology.
Neil S. Patel,
M. Carlson,
Mai‐Lan Ho,
2017,
Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology.
C. Summers,
T. C. Chang,
L. Schimmenti,
2011,
British Journal of Ophthalmology.
D. Fitzpatrick,
T. Young,
T. Bardakjian,
2008,
American journal of medical genetics. Part A.
The MAP3K7 gene: Further delineation of clinical characteristics and genotype/phenotype correlations
B. V. van Bon,
L. Bird,
M. Tartaglia,
2022,
Human mutation.
Andrew R. Grant,
Marina T. DiStefano,
I. Krantz,
2021,
Genetics in Medicine.
L. Schimmenti,
Alaa Koleilat,
G. Poling,
2020
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M. Schleiss,
A. Jurek,
L. Schimmenti,
2009,
The Pediatric infectious disease journal.
C. Summers,
M. Brilliant,
Jennifer L. Anderson,
2015,
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus.
C. Summers,
L. Schimmenti,
C. Schoonveld,
2013,
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus.
Gordana Raca,
Tom Bair,
G. Raca,
2010,
Molecular genetics and metabolism.
C. Palmer,
L. Schimmenti,
2010
.
L. Schimmenti,
C. Driscoll,
Alaa Koleilat,
2020
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Z. Niu,
Mai‐Lan Ho,
L. Schimmenti,
2019,
Cold Spring Harbor molecular case studies.
C. M. Souza,
B. Hirsch,
Stephanie L. Lerach,
2015,
American journal of medical genetics. Part A.
Ryan L. Collins,
D. MacArthur,
Daisuke Sato,
2017,
Nature Genetics.
B. Hirsch,
M. Pierpont,
L. Schimmenti,
2010,
Genetics in Medicine.
P. Lockhart,
I. Scheffer,
H. Mefford,
2022,
American journal of human genetics.
J. Moller,
L. Schimmenti,
L. Kochilas,
2011,
Pediatric Cardiology.
S. Albelda,
L. Schimmenti,
J. Madri,
1992,
Journal of cellular physiology.
D. Fitzpatrick,
T. Young,
T. Bardakjian,
2016
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D. Balciunas,
S. Ekker,
K. Clark,
2012,
Development.
Katelyn A. Reed,
P. Lundquist,
L. Schimmenti,
2022,
Pediatric pulmonology.
L. Schimmenti,
B. LeRoy,
P. McCarthy Veach,
2009,
Journal of Genetic Counseling.
L. Schimmenti,
Joan M. Steyermark,
Matthew Bower,
2016,
Current Genetic Medicine Reports.
E. Klee,
L. Schimmenti,
F. Pinto e Vairo,
2021,
American journal of medical genetics. Part A.
Michael T. Zimmermann,
Gavin R. Oliver,
Tammy M. McAllister,
2020,
Genetics in Medicine.
W. Grody,
C. Palmer,
L. Schimmenti,
2009,
American journal of medical genetics. Part A.
P. Mayeux,
L. Schimmenti,
J. Winkelmann,
2011
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Z. Cayci,
L. Burmeister,
L. Schimmenti,
2016,
American journal of medical genetics. Part A.
C. Palmer,
L. Schimmenti,
Ariadna Martínez,
2003,
Genetics in Medicine.
B. Lanpher,
E. Morava,
L. Schimmenti,
2020,
American journal of medical genetics. Part A.
S. Dimauro,
F. Santorelli,
G. Silvestri,
1994,
Human mutation.
W. Dobyns,
M. Eccles,
M. Pierpont,
1996
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Eric W. Klee,
Brent R. Bill,
Stephen C. Ekker,
2006,
PloS one.
N. Rao,
K. Dipple,
L. Schimmenti,
2005,
Clinical dysmorphology.
J. Smadbeck,
M. Carlson,
G. Vasmatzis,
2018,
Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology.
L. Schimmenti,
L. Charnas,
S. Berry,
2008,
Journal of child neurology.
P. Drapeau,
L. Schimmenti,
I. Pena,
2018,
JCI insight.
L. Schimmenti,
S. Bakri,
A. Marmorstein,
2018,
Retinal cases & brief reports.
Marni J. Falk,
Gerard C. P. Schaafsma,
R. Kumar,
2012,
Human mutation.
G. Wiesner,
L. Schimmenti,
R. Higgins,
1995,
American journal of medical genetics.
Arkasubhra Ghosh,
L. Schimmenti,
S. Murugan,
2019,
Molecular genetics & genomic medicine.
G. Carvill,
I. Scheffer,
H. Mefford,
2022,
Neurology.
Profound intellectual disability caused by homozygous TRAPPC9 pathogenic variant in a man from Malta
L. Schimmenti,
L. Hasadsri,
C. P. Wood,
2020,
Molecular genetics & genomic medicine.
R. Płoski,
V. Desquiret-Dumas,
V. Procaccio,
2022,
Clinical genetics.
P. Lapunzina,
P. Blackburn,
J. Nevado,
2019,
European Journal of Human Genetics.
M. Kohorst,
L. Schimmenti,
N. Hoppman,
2021,
British journal of haematology.
E. Klee,
L. Schimmenti,
J. Hand,
2020,
American journal of medical genetics. Part A.
Andrew R. Grant,
H. P. Kang,
Marina T. DiStefano,
2018,
Genetics in Medicine.
Prashant D. Tailor,
R. Iezzi,
L. Schimmenti,
2022,
Ophthalmology Retina.
M. Brodsky,
E. Klee,
L. Schimmenti,
2023,
American journal of ophthalmology case reports.
M. Boivin,
C. John,
J. Kazura,
2010,
The American journal of tropical medicine and hygiene.
M. Boivin,
C. John,
J. Kazura,
2010
.
C. Summers,
L. Schimmenti,
C. Schoonveld,
2013,
Journal of AAPOS.
G. Raca,
L. Schimmenti,
Craig A. Jackson,
2012,
American journal of medical genetics. Part A.
R. Cantor,
L. Schimmenti,
B. Nakamura,
1999,
Molecular genetics and metabolism.
W. Dobyns,
L. Schimmenti,
S. Kirkpatrick,
1999,
Human mutation.
H. Cunliffe,
K. Devriendt,
M. Masuno,
1997,
American journal of human genetics.
R. Fettiplace,
S. Amr,
L. Schimmenti,
2021,
The Journal of Neuroscience.
R. Iezzi,
L. Schimmenti,
J. Chiang,
2020,
Retinal cases & brief reports.
K. Kindt,
S. Burgess,
Lisha Xu,
2016,
Scientific Reports.
Y. Setoguchi,
L. Schimmenti,
P. Taub,
2003,
American journal of medical genetics. Part A.
Jason T. Little,
L. Schimmenti,
Brittni A Scruggs,
2023,
Pediatrics.
L. Schimmenti,
2016,
Zebrafish.
M. A. Masino,
S. Ekker,
L. Schimmenti,
2020,
Disease Models & Mechanisms.
M. A. Masino,
S. Ekker,
L. Schimmenti,
2019,
bioRxiv.
Tammy M. McAllister,
V. Ramanan,
L. Roberts,
2023,
Journal of Translational Medicine.
P. Sieving,
L. Schimmenti,
G. Manligas,
2003,
Ophthalmic genetics.
M. Eccles,
L. Schimmenti,
L. Heidet,
2011,
European Journal of Human Genetics.
L. Schimmenti,
2009
.
Detection of PAX2 deletions and duplications using multiplex ligation-dependent probe amplification.
A. Karger,
L. Schimmenti,
B. Thyagarajan,
2013,
Genetic testing and molecular biomarkers.
A. Edwards,
R. Ritter,
L. Schimmenti,
2001,
American journal of ophthalmology.
L. Schimmenti,
Alaa Koleilat,
Shawna A. Cooper,
2023,
Zebrafish.
L. Bird,
M. Tartaglia,
Y. Elgersma,
2021
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Nipun A. Mistry,
Z. Niu,
P. Lundquist,
2020,
The journal of applied laboratory medicine.
Andrew R. Grant,
Marina T. DiStefano,
H. Rehm,
2019,
Genetics in Medicine.
N. Staff,
S. Ekker,
A. Windebank,
2019,
Academic medicine : journal of the Association of American Medical Colleges.
G. Heidary,
O. Rapalino,
L. Schimmenti,
2024,
American journal of medical genetics. Part A.
J. Smadbeck,
G. Vasmatzis,
E. Klee,
2024,
American journal of medical genetics. Part A.
L. Schimmenti,
2016,
Zebrafish.