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Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP
103 auth.
Anke Van Dijck,
A. V. Vulto-van Silfhout,
E. Cappuyns,
Ilse M. van der Werf,
G. M. Mancini,
A. Tzschach,
R. Bernier,
I. Gozes,
Evan E. Eichler,
C. Romano,
A. Lindstrand,
A. Nordgren,
M. Kvarnung,
T. Kleefstra,
B. D. de Vries,
...
S. Küry,
Jill A. Rosenfeld,
M. Meuwissen,
G. Vandeweyer,
R. Kooy,
Madhura Bakshi,
Meredith Wilson,
Yemina Berman,
Rebecca Dickson,
E. Fransen,
C. Helsmoortel,
J. van den Ende,
N. van der Aa,
Marina J. van de Wijdeven,
J. Rosenblum,
F. Monteiro,
F. Kok,
N. Quercia,
S. Bowdin,
D. Dyment,
D. Chitayat,
Ebba Alkhunaizi,
S. E. Boonen,
B. Keren,
A. Jacquette,
L. Faivre,
S. Bézieau,
B. Isidor,
A. Riess,
U. Moog,
S. Lynch,
T. McVeigh,
O. Elpeleg,
Marie F. Smeland,
M. Fannemel,
A. van Haeringen,
Saskia M. Maas,
H. Veenstra-Knol,
M. Schouten,
M. Willemsen,
Carlo L. Marcelis,
C. Ockeloen,
I. van der Burgt,
I. Feenstra,
J. van der Smagt,
A. Jezela-Stanek,
M. Krajewska-Walasek,
D. González-Lamuño,
B. Anderlid,
H. Malmgren,
M. Nordenskjöld,
E. Clement,
J. Hurst,
K. Metcalfe,
S. Mansour,
K. Lachlan,
J. Clayton-Smith,
L. Hendon,
Omar Abdulrahman,
E. Morrow,
Clare McMillan,
J. Gerdts,
J. Peeden,
Samantha A Schrier Vergano,
Caitlin Valentino,
Wendy K. Chung,
J. Ozmore,
S. Bedrosian-Sermone,
Anna Dennis,
Kayla Treat,
S. S. Hughes,
N. Safina,
J. Le Pichon,
Marianne Mcguire,
Elena Infante,
Suneeta Madan‐Khetarpal,
Sonal J. Desai,
P. Benke,
Alyson Krokosky,
Ingrid Cristian,
L. Baker,
K. Gripp,
H. Stessman,
Jacob A Eichenberger,
P. Jayakar,
A. Pizzino,
Melanie A. Manning,
L. Slattery
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6 |
2019 |
6
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Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failure
18 auth.
Surabhi Mulchandani,
E. Bhoj,
Minjie Luo,
N. Powell-Hamilton,
Kim Jenny,
K. Gripp,
M. Elbracht,
T. Eggermann,
C. Turner,
I. Temple,
...
D. Mackay,
Holly A. Dubbs,
D. Stevenson,
L. Slattery,
E. Zackai,
N. Spinner,
I. Krantz,
L. Conlin
|
6 |
2015 |
6
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🐬
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Attitudes of Mothers of Children with Down Syndrome Towards Noninvasive Prenatal Testing
G. Kellogg,
L. Slattery,
L. Hudgins,
K. Ormond
|
6 |
2014 |
6
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Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
38 auth.
P. Stankiewicz,
T. Khan,
P. Szafranski,
L. Slattery,
Haley E. Streff,
Francesco Vetrini,
J. Bernstein,
Chester W. Brown,
J. Rosenfeld,
S. Rednam,
S. Scollon,
Katie Bergstrom,
D. Parsons,
S. Plon,
Marta W. Vieira,
...
C. Quaio,
W. Baratela,
Johanna C Acosta Guio,
R. Armstrong,
S. Mehta,
P. Rump,
R. Pfundt,
Raymond Lewandowski,
Erica M. Fernandes,
D. Shinde,
Sha Tang,
Juliane Hoyer,
C. Zweier,
A. Reis,
C. Bacino,
Rui Xiao,
Amy M. Breman,
Janice L. Smith,
N. Katsanis,
Bret L. Bostwick,
B. Popp,
E. Davis,
Yaping Yang
|
6 |
2017 |
6
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Clinical whole-exome sequencing: are we there yet?
14 auth.
P. Atwal,
M. Brennan,
Rachel Cox,
M. Niaki,
J. Platt,
M. Homeyer,
A. Kwan,
Sylvie Parkin,
S. Schelley,
L. Slattery,
...
Y. Wilnai,
J. Bernstein,
G. Enns,
L. Hudgins
|
6 |
2014 |
6
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Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies
46 auth.
Bo Yuan,
J. Neira,
D. Pehlivan,
Teresa Santiago-Sim,
Xiaofei Song,
J. Rosenfeld,
J. Posey,
Vipulkumar Patel,
Weihong Jin,
M. Adam,
E. Baple,
J. Dean,
C. Fong,
S. Hickey,
L. Hudgins,
...
E. Leon,
Suneeta Madan‐Khetarpal,
Lettie E Rawlins,
C. Rustad,
A. Stray-Pedersen,
K. Tveten,
Olivia Wenger,
Jullianne Diaz,
Laura Jenkins,
Laura S Martin,
Marianne Mcguire,
M. Pietryga,
Linda A. Ramsdell,
L. Slattery,
Farida Abid,
A. Bertuch,
D. Grange,
L. Immken,
C. Schaaf,
H. Van Esch,
W. Bi,
S. Cheung,
Amy M. Breman,
Janice L. Smith,
C. Shaw,
A. Crosby,
C. Eng,
Yaping Yang,
J. Lupski,
Rui Xiao,
Pengfei Liu
|
5 |
2018 |
5
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Novel X‐linked syndrome of cardiac valvulopathy, keloid scarring, and reduced joint mobility due to filamin A substitution G1576R
9 auth.
P. Atwal,
Sophie Blease,
Alicia A. Braxton,
J. Graves,
Weimin He,
R. Person,
...
L. Slattery,
J. Bernstein,
L. Hudgins
|
4 |
2016 |
4
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ASSESSING THE PERCEPTIONS OF AFRICAN AMERICANS TOWARD GENETICS AND GENETICS RESEARCH
L. Slattery
|
1 |
2007 |
1
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