paul kruszka
paul kruszka
Verified email at nih.gov
Title
Cited by
Cited by
Year
Neurotrophins can enhance spiral ganglion cell survival after inner hair cell loss
JM Miller, DH Chi, LJ O'Keeffe, P Kruszka, Y Raphael, RA Altschuler
International Journal of Developmental Neuroscience 15 (4-5), 631-643, 1997
3311997
Diagnosis and management of Sjogren syndrome
P Kruszka, RJ O'Brian
American family physician 79 (6), 465-470, 2009
972009
Evaluation of acute pelvic pain in women
P Kruszka, SJ Kruszka
American family physician 82 (2), 141-147, 2010
832010
22q11. 2 deletion syndrome in diverse populations
P Kruszka, YA Addissie, DE McGinn, AR Porras, E Biggs, M Share, ...
American Journal of Medical Genetics Part A 173 (4), 879-888, 2017
692017
Down syndrome in diverse populations
P Kruszka, AR Porras, AK Sobering, FA Ikolo, S La Qua, V Shotelersuk, ...
American Journal of Medical Genetics Part A 173 (1), 42-53, 2017
552017
Noonan syndrome in diverse populations
P Kruszka, AR Porras, YA Addissie, A Moresco, S Medrano, GTK Mok, ...
American Journal of Medical Genetics Part A 173 (9), 2323-2334, 2017
472017
Williams–Beuren syndrome in diverse populations
P Kruszka, AR Porras, DH De Souza, A Moresco, V Huckstadt, AD Gill, ...
American Journal of Medical Genetics Part A 176 (5), 1128-1136, 2018
332018
Dominant-negative kinase domain mutations in FGFR1 can explain the clinical severity of Hartsfield syndrome
S Hong, P Hu, J Marino, SB Hufnagel, RJ Hopkin, A Toromanović, ...
Human molecular genetics 25 (10), 1912-1922, 2016
332016
Mutations in SPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome
P Kruszka, D Li, MH Harr, NR Wilson, D Swarr, EM McCormick, ...
Journal of medical genetics 52 (2), 104-110, 2015
312015
Renal growth in isolated methylmalonic acidemia
PS Kruszka, I Manoli, JL Sloan, JB Kopp, CP Venditti
Genetics in Medicine 15 (12), 990-996, 2013
292013
Muenke syndrome: An international multicenter natural history study
P Kruszka, YA Addissie, CMP Yarnell, DW Hadley, MJ Guillen Sacoto, ...
American Journal of Medical Genetics Part A 170 (4), 918-929, 2016
272016
Syndromes associated with holoprosencephaly
P Kruszka, M Muenke
American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2018
232018
An electronic atlas of human malformation syndromes in diverse populations
M Muenke, A Adeyemo, P Kruszka
Genetics in Medicine 18 (11), 1085-1087, 2016
232016
Craniosynostosis and Noonan syndrome with KRAS mutations: Expanding the phenotype with a case report and review of the literature
YA Addissie, U Kotecha, RA Hart, AF Martinez, P Kruszka, M Muenke
American Journal of Medical Genetics Part A 167 (11), 2657-2663, 2015
232015
Rheumatic heart disease in Uganda: the association between MHC class II HLA DR alleles and disease: a case control study
E Okello, A Beaton, CK Mondo, P Kruszka, N Kiwanuka, R Odoi-Adome, ...
BMC cardiovascular disorders 14 (1), 28, 2014
232014
Whole-exome sequencing for diagnosis of Turner syndrome: toward next-generation sequencing and newborn screening
DR Murdock, FX Donovan, SC Chandrasekharappa, N Banks, C Bondy, ...
The Journal of Clinical Endocrinology & Metabolism 102 (5), 1529-1537, 2017
202017
Cohesin complex-associated holoprosencephaly
P Kruszka, SI Berger, V Casa, MR Dekker, J Gaesser, K Weiss, ...
Brain 142 (9), 2631-2643, 2019
172019
In-depth investigations of adolescents and adults with holoprosencephaly identify unique characteristics
K Weiss, P Kruszka, MJG Sacoto, YA Addissie, DW Hadley, CK Hadsall, ...
Genetics in Medicine 20 (1), 14-23, 2018
152018
Haploinsufficiency of ZNF462 is associated with craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay
K Weiss, K Wigby, M Fannemel, LB Henderson, N Beck, N Ghali, ...
European Journal of Human Genetics 25 (8), 946-951, 2017
152017
Limb body wall complex, amniotic band sequence, or new syndrome caused by mutation in IQ Motif containing K (IQCK)?
P Kruszka, A Uwineza, L Mutesa, AF Martinez, Y Abe, EH Zackai, ...
Molecular genetics & genomic medicine 3 (5), 424-432, 2015
152015
The system can't perform the operation now. Try again later.
Articles 1–20