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Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders
27 auth.
S. Soden,
Carol J. Saunders,
L. Willig,
E. Farrow,
Laurie D. Smith,
J. Petrikin,
J. LePichon,
Neil A. Miller,
I. Thiffault,
D. Dinwiddie,
Greyson Twist,
A. Noll,
B. Heese,
L. Zellmer,
Andrea M. Atherton,
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A. Abdelmoity,
N. Safina,
Sarah S Nyp,
Britton D. Zuccarelli,
Ingrid A. Larson,
Ann C. Modrcin,
Suzanne M. Herd,
Mitchell P. Creed,
Zhaohui Ye,
Xuan Yuan,
R. Brodsky,
S. Kingsmore
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9 |
2014 |
9
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Expanded newborn screening identifies maternal primary carnitine deficiency.
16 auth.
L. Schimmenti,
E. Crombez,
B. Schwahn,
B. Heese,
T. Wood,
R. Schroer,
Kristi Bentler,
S. Cederbaum,
K. Sarafoglou,
M. McCann,
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P. Rinaldo,
D. Matern,
Cristina Amat di San Filippo,
M. Pasquali,
S. Berry,
N. Longo
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6 |
2007 |
6
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Connective tissue dysplasia in five new patients with NF1 microdeletions: further expansion of phenotype and review of the literature
8 auth.
K. Mensink,
R. Ketterling,
H. Flynn,
R. Knudson,
N. Lindor,
B. Heese,
...
R. Spinner,
D. Babovic‐Vuksanovic
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5 |
2005 |
5
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Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy
13 auth.
R. Mineri,
M. Rimoldi,
Angelo Burlina,
S. Koskull,
C. Perletti,
B. Heese,
U. V. Döbeln,
Paolo Mereghetti,
I. Meo,
Federica Invernizzi,
...
Massimo Zeviani,
G. Uziel,
V. Tiranti
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5 |
2008 |
5
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Genomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomes
90 auth.
A. Cohen,
E. Farrow,
A. Abdelmoity,
J. Alaimo,
S. Amudhavalli,
John T. Anderson,
Lalit R. Bansal,
L. Bartik,
P. Baybayan,
Bradley Belden,
C. Berrios,
R. Biswell,
P. Buczkowicz,
Orion J. Buske,
Shreyasee Chakraborty,
...
W. Cheung,
Keith A. Coffman,
Ashley M. Cooper,
L. Cross,
Tom Curran,
T. T. T. Dang,
Mary M. Elfrink,
Kendra L. Engleman,
Erin Fecske,
Cynthia Fieser,
Keely Fitzgerald,
E. Fleming,
Randi N. Gadea,
J. Gannon,
Rose Gelineau-Morel,
M. Gibson,
Jeffrey Goldstein,
E. Grundberg,
Kelsee Halpin,
Brian S. Harvey,
B. Heese,
Wendy Hein,
Suzanne M. Herd,
S. Hughes,
M. Ilyas,
J. Jacobson,
J. Jenkins,
Shao Jiang,
J. Johnston,
K. Keeler,
J. Korlach,
J. Kussmann,
Christine C. Lambert,
Caitlin E Lawson,
J. Le Pichon,
J. S. Leeder,
Vicki C. Little,
Daniel A. Louiselle,
M. Lypka,
Brittany McDonald,
Neil A. Miller,
Ann C. Modrcin,
Annapoorna Nair,
Shelby H. Neal,
C. Oermann,
D. Pacicca,
Kailash Pawar,
N. Posey,
Nigel J. Price,
L. Puckett,
Julio F. Quezada,
N. Raje,
W. Rowell,
E. Rush,
V. Sampath,
Carol J. Saunders,
Caitlin R. Schwager,
R. Schwend,
Elizabeth Shaffer,
Craig Smail,
Sarah Soden,
Meghan E. Strenk,
Bonnie R. Sullivan,
Brooke Sweeney,
J. Tam-Williams,
Adam M. Walter,
Holly I. Welsh,
A. Wenger,
L. Willig,
Yun Yan,
S. Younger,
Dihong Zhou,
T. Zion,
I. Thiffault,
T. Pastinen
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5 |
2021 |
5
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Genotype–phenotype correlation in interstitial 6q deletions: a report of 12 new cases
28 auth.
J. Rosenfeld,
D. Amrom,
E. Andermann,
F. Andermann,
M. Veilleux,
C. Curry,
J. Fisher,
S. Deputy,
A. Aylsworth,
C. Powell,
Kandamurugu Manickam,
B. Heese,
M. Maisenbacher,
C. Stevens,
J. Ellison,
...
Sheila Upton,
J. Moeschler,
Wilfredo Torres‐Martinez,
Abby K. Stevens,
R. Marion,
E. Pereira,
M. Babcock,
B. Morrow,
T. Sahoo,
A. Lamb,
B. Ballif,
A. Paciorkowski,
L. Shaffer
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5 |
2012 |
5
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Effects of Valproic Acid on Organic Acid Metabolism in Children: A Metabolic Profiling Study
12 auth.
K. E. Price,
R. Pearce,
U. Garg,
B. Heese,
L. D. Smith,
J. Sullivan,
...
M. J. Kennedy,
J. Bale,
R. Ward,
T.K.H. Chang,
FS Abbott,
J. Leeder
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5 |
2011 |
5
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🐢
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CARCASS SELECTION IN A HIGH ALTITUDE POPULATION OF THE BURYING BEETLE, NICROPHOR US INVESTIGATOR (SILPHIDAE)
Rosemary J. Smith,
B. Heese
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5 |
1995 |
5
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🦁
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Current strategies in the management of lysosomal storage diseases.
B. Heese
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5 |
2008 |
5
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