Benjamin Solomon
Benjamin Solomon
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Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries
ME Talkowski, JA Rosenfeld, I Blumenthal, V Pillalamarri, C Chiang, ...
Cell 149 (3), 525-537, 2012
4752012
Vacterl/Vater association
BD Solomon
Orphanet journal of rare diseases 6 (1), 56, 2011
2942011
Human malformations and related anomalies
RE Stevenson
Oxford University Press, 2015
2302015
Holoprosencephaly
M Muenke, B Solomon, S Odent
American journal of medical genetics. Part C, Seminars in medical genetics …, 2010
1392010
Parent-of-origin-specific signatures of de novo mutations
JM Goldmann, WSW Wong, M Pinelli, T Farrah, D Bodian, AB Stittrich, ...
Nature Genetics 48 (8), 935, 2016
1242016
Mutations in NOTCH1 cause Adams-Oliver syndrome
AB Stittrich, A Lehman, DL Bodian, J Ashworth, Z Zong, H Li, P Lam, ...
The American Journal of Human Genetics 95 (3), 275-284, 2014
1132014
New observations on maternal age effect on germline de novo mutations
WSW Wong, BD Solomon, DL Bodian, P Kothiyal, G Eley, KC Huddleston, ...
Nature communications 7 (1), 1-10, 2016
1122016
Analysis of genotype–phenotype correlations in human holoprosencephaly
BD Solomon, S Mercier, JI Vélez, DE Pineda‐Alvarez, A Wyllie, N Zhou, ...
American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2010
1102010
The clinical content of preconception care: women with chronic medical conditions
AL Dunlop, BW Jack, JN Bottalico, MC Lu, A James, CS Shellhaas, ...
American journal of obstetrics and gynecology 199 (6), S310-S327, 2008
1012008
Assessing tumor infiltrating lymphocytes in solid tumors: a practical review for pathologists and proposal for a standardized method from the International Immuno-Oncology …
S Hendry, R Salgado, T Gevaert, PA Russell, T John, B Thapa, M Christie, ...
Advances in anatomic pathology 24 (5), 235, 2017
952017
Analysis of component findings in 79 patients diagnosed with VACTERL association
BD Solomon, DE Pineda‐Alvarez, MS Raam, SM Bous, AA Keaton, ...
American Journal of Medical Genetics Part A 152 (9), 2236-2244, 2010
872010
Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association
P Saisawat, S Kohl, AC Hilger, DY Hwang, HY Gee, GC Dworschak, ...
Kidney international 85 (6), 1310-1317, 2014
852014
Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function
F Lacbawan, BD Solomon, E Roessler, K El-Jaick, S Domené, JI Velez, ...
Journal of medical genetics 46 (6), 389-398, 2009
832009
Compound heterozygosity for mutations in PAX6 in a patient with complex brain anomaly, neonatal diabetes mellitus, and microophthalmia
BD Solomon, DE Pineda‐Alvarez, JZ Balog, D Hadley, AL Gropman, ...
American journal of medical genetics Part A 149 (11), 2543-2546, 2009
752009
The mutational spectrum of holoprosencephaly‐associated changes within the SHH gene in humans predicts loss‐of‐function through either key structural …
E Roessler, KB El‐Jaick, C Dubourg, JI Vélez, BD Solomon, ...
Human mutation 30 (10), E921-E935, 2009
722009
Holoprosencephaly overview
BD Solomon, A Gropman, M Muenke
GeneReviews®[internet], 2013
702013
Evidence for inheritance in patients with VACTERL association
BD Solomon, DE Pineda-Alvarez, MS Raam, DAT Cummings
Human genetics 127 (6), 731-733, 2010
692010
Impact of genetics on the diagnosis and clinical management of syndromic craniosynostoses
NB Agochukwu, BD Solomon, M Muenke
Child's Nervous System 28 (9), 1447-1463, 2012
682012
Clinical genomic database
BD Solomon, AD Nguyen, KA Bear, TG Wolfsberg
Proceedings of the National Academy of Sciences 110 (24), 9851-9855, 2013
662013
Clinical geneticists' views of VACTERL/VATER association
BD Solomon, KA Bear, V Kimonis, A de Klein, DA Scott, C Shaw‐Smith, ...
American Journal of Medical Genetics Part A 158 (12), 3087-3100, 2012
662012
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